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Gene: Srsf4 MGI:1890577

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Gene Summary

Name:
serine and arginine-rich splicing factor 4
Synonyms:
5730499P16Rik,  Sfrs4,  SRp75,  MNCb-2616

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Srsf4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased hematocrit Srsf4tm1a(EUCOMM)Wtsi HET Early adult 3.12×10-07
abnormal tail movements Srsf4tm1a(EUCOMM)Wtsi HET   Early adult 2.92×10-05
short tibia Srsf4tm1a(EUCOMM)Wtsi HET Early adult 8.03×10-05
increased circulating creatinine level Srsf4tm1a(EUCOMM)Wtsi HET Early adult 6.76×10-06
abnormal coat/hair pigmentation Srsf4tm1a(EUCOMM)Wtsi HET   Early adult 9.98×10-05
abnormal coat/hair pigmentation Srsf4tm1a(EUCOMM)Wtsi HOM Early adult 9.77×10-05
increased IgE level Srsf4tm1a(EUCOMM)Wtsi HET Early adult 1.72×10-15

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (4 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (4 of 4)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 25% (1 of 4)
Gall bladder N/A heterozygote 50% (2 of 4)
Heart N/A heterozygote 50% (2 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 75% (3 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 50% (2 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 50% (2 of 4)
Parathyroid gland N/A heterozygote 100% (4 of 4)
Peripheral nervous system N/A heterozygote 75% (3 of 4)
Peyer's patch N/A heterozygote 100% (4 of 4)
Pituitary gland N/A heterozygote 25% (1 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 100% (4 of 4)
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 100% (4 of 4)
Thyroid gland N/A heterozygote 100% (4 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Srsf4tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI

View all 142 images

Srsf4tm1a(EUCOMM)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 6 images

Srsf4tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal vascularization, corneal opacity, abnormal cornea morphology, mydriasis, narrow eye opening, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
eye, corneal opacity, cornea/lens fusion, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Male, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Srsf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Srsf4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Srsf4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... ORPHA:2779
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased pro... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Clubbing of fingers, Hepatospleno... OMIM:618982
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Abnormality of the... ORPHA:90368
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level, Palmoplantar hyperkeratosis, Plantar hyperkeratosis OMIM:144200
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Hypoplastic fingernail, Abnormal metaphysis morphology, ... ORPHA:240
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Decreased proportion of class-switched memory B cells, Clubbing ... OMIM:615767
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Hip dysplasia, Brachydactyly, Short distal phalanx of finger, Increased c... ORPHA:1858
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia, Clubbing of fingers, Clubbing OMIM:162700
Hidrotic Ectodermal Dysplasia
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... ORPHA:189
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Peeling Skin Syndrome 1
Brittle hair, Palmoplantar hyperhidrosis, Onycholysis, Eosinophilia, Increased circulating IgE le... OMIM:270300
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased... ORPHA:169154
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Volar fing... OMIM:619217
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Abnormal d... ORPHA:3409
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Aplasia/Hypoplasia of the nails, Micrognathia, ... ORPHA:2756
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
White Forelock With Malformations
White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Netherton Syndrome
Aminoaciduria, Irregular hyperpigmentation, Sparse scalp hair, Sparse eyebrow, Trichorrhexis nodo... ORPHA:634
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Increased circulating... ORPHA:277
Netherton Syndrome
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair, Increased... OMIM:256500
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Hip dislocation, Eosinophilia, Clubbing OMIM:618523
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Small nail, Malaligned carpal bone, Patellar disloc... OMIM:228900
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Deep-set nails, O... OMIM:201170
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Lymphopenia, Decreased circul... OMIM:619752
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia OMIM:247800
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:606367
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Inflammatory Skin And Bowel Disease, Neonatal, 2
Long eyelashes, Increased circulating IgE level OMIM:616069
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Decreased circulating antibody lev... OMIM:607143
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Th... OMIM:304790
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Elevat... ORPHA:449400
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... OMIM:617744
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia, Micrognathia, Decreased circulating IgA level, Eosinophilia, Increased circulating IgE ... OMIM:618282
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612926
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Clubbi... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 1
Ankle clonus, Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Decr... OMIM:308230
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Growth arr... OMIM:102700
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgG lev... OMIM:243700
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic anemia, Inc... OMIM:612925
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... OMIM:618394
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia OMIM:617056
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short phalanx of finger, T lymphocytopenia, Micrognathia, Limb undergrowth, Aplasia/hypoplasia in... ORPHA:508533
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia OMIM:607676
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Decreased circulating complement C3 conc... OMIM:235400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Paronychia, Onychogryposis OMIM:614328
Tubulointerstitial Nephritis With Uveitis
Circulating immune complexes, Elevated circulating creatinine concentration, Non-caseating epithe... OMIM:607665
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Abnormal ulnar metaphysis morpho... ORPHA:177910
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Hypoplasia of the femoral head, Thrombocytosis, Leukocytosis, Increas... OMIM:209950
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Broad long bone diaphyses, Rhizomelia, Short iliac bones, Supernumerary nipple, Pes valgus, Aceta... OMIM:614376
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... OMIM:602450
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Hypopigmentation of the skin, Coxa valga, ... ORPHA:356961
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia OMIM:617872
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... OMIM:619510
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Decreased circulating complement C4 concentration,... ORPHA:567544
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating anti... OMIM:308240
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... OMIM:313900
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... ORPHA:1505
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
C3 Glomerulopathy
Decreased circulating complement C4 concentration, Elevated circulating creatinine concentration,... ORPHA:329918
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Alopecia, Decreased circulating complement C3 concentration, Absent isohe... OMIM:615559
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... ORPHA:1106
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Elevated circulating C-reactive protein conce... ORPHA:2902
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Fanconi Renotubular Syndrome 3
Bowing of the legs, Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Immunodeficiency 43
Reduced natural killer cell count, Decreased circulating IgG level, Decreased specific antibody r... OMIM:241600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Metaphyseal irregularity, Alopecia, Bulging epiphyses, Rickets of the lo... OMIM:600785
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis ORPHA:54057
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Impaired platelet aggr... OMIM:614072
Immunodeficiency 23
Hemolytic anemia, Increased circulating IgG level, Lymphopenia, Increased circulating IgM level, ... OMIM:615816
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Lead Poisoning
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... ORPHA:330015
Griscelli Syndrome
Leukopenia, Pedal edema, Abnormal circulating lipid concentration, Abnormal eyebrow morphology, P... ORPHA:381
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Paronychia, Eosinophilia, Abnormal hair morphology, Dystrophic f... ORPHA:2314
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnor... ORPHA:37042
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Orofaciodigital Syndrome Ix
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly OMIM:258865
Aspergillosis
Neutropenia, Abnormal long bone morphology, Eosinophilia, Increased circulating IgE level ORPHA:1163
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Blue... OMIM:614613
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... ORPHA:79477
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Elevated circulating C-reactive protein... OMIM:618048
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... ORPHA:91547
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... OMIM:301000
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Camptodactyly, Elevated circulating creatinine concentration, Thrombocytopenia, Talipes e... OMIM:608104
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgG level, Thr... OMIM:618213
Diffuse Alveolar Hemorrhage
Anemia, Decreased circulating complement C3 concentration, Decreased circulating complement C4 co... ORPHA:90060
Methionine Malabsorption Syndrome
White hair, Aminoaciduria, Blue irides, Positive ferric chloride test OMIM:250900
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Sparse eyebrow, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Micro... OMIM:616300
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Muenke Syndrome
Carpal synostosis, Hypopigmented skin patches, Hypopigmentation of hair, Short palm, Hypermelanot... ORPHA:53271
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... OMIM:613091
Multiple Myeloma
Anemia, Decreased circulating antibody level, Hypercalcemia, Increased circulating IgA level, Ele... ORPHA:29073
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... ORPHA:1988
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... ORPHA:507
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Aplasia of the eccrine swea... OMIM:300291
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Decreased serum creatinine, Decreased HDL cholesterol concentration, Sandal gap, Iron... OMIM:618885
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Premature graying of hair, Cutaneous finger syndactyly, Synophrys, Clino... OMIM:148820
Tempi Syndrome
Increased hematocrit, Increased circulating IgG level, Polycythemia ORPHA:284227
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Fine hair, Long fibula, White hair, Abnormal metaphysis morphology, Agammagl... ORPHA:935
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... OMIM:119800
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anemia, Metaphyseal cupping, Sparse eyebrow, Coxa vara, Fair hair, Hypopla... OMIM:250250
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Caffey Disease
Increased circulating antibody level, Periosteal thickening of long tubular bones, Cortical thick... ORPHA:1310
Ataxia-Telangiectasia
Premature graying of hair, Decreased circulating antibody level, Lymphopenia, Hypopigmentation of... ORPHA:100
Squalene Synthase Deficiency
Knee flexion contracture, 2-3 toe syndactyly, Decreased LDL cholesterol concentration, Abnormalit... OMIM:618156
Tibial Hemimelia
Absent tibia OMIM:275220
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Broad foot, Short toe, Small nail, Finger syndactyly, Toe syndactyly, Po... ORPHA:373
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Thick hair, Finger syndactyly, Mic... ORPHA:2751
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Chilblain Lupus
Finger swelling, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Onychogryposis, Syndact... OMIM:603671
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Increased total bilirubin, Hypoplastic toenails, Tapered toe, Tapered f... OMIM:608836
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Frontal hirsutism, He... ORPHA:96334
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgG... ORPHA:449432
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... OMIM:617925
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... OMIM:171480
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Cryoglobulinemia OMIM:123550
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Oculocutaneous Albinism Type 1
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... ORPHA:352731
Hoyeraal-Hreidarsson Syndrome
Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Gener... ORPHA:3322
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Myeloma, Multiple
Paraproteinemia OMIM:254500
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Toe syndactyly, Iris hypopigmentation, Clinodactyly... ORPHA:999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Synophrys, Flared iliac wing, Long eyelashes, Acetabular dysplasia, Clubbing,... OMIM:617303
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Periungual erythema, Lymphopenia, Nailfold capillary tortuosity, Elevated cir... OMIM:615934
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Splenomegaly, Leukocytosis ORPHA:37748
Interstitial Lung Disease 2
Increased circulating antibody level, Clubbing of fingers OMIM:178500
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hyperbili... ORPHA:542323
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Dysfunctional al... ORPHA:90038
Adult-Onset Nemaline Myopathy
Micrognathia, Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Igg4-Related Kidney Disease
Pedal edema, Decreased retinol-binding protein level, Increased circulating IgG4 level, Decreased... ORPHA:449395
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Prolidase Deficiency
Anemia, Increased circulating antibody level, Micrognathia, Low posterior hairline, Facial hirsut... OMIM:170100
Chediak-Higashi Syndrome
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... OMIM:214500
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... OMIM:263520
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Palmoplantar hyperkeratosis, Autoimmune hemolytic anemia, Elevated circulating... OMIM:617388
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Elevated circulating creatinine concentration, Avascular necrosis of the capit... ORPHA:247691
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Paraproteinemia, Hyperlipidemia ORPHA:439232
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly OMIM:618495
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Reduced p... OMIM:619172
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... ORPHA:276
Saul-Wilson Syndrome
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... OMIM:618150
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair OMIM:160980
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Premature graying of hair, Palmoplantar hyperkeratosis, Pancytopenia, White forelock,... OMIM:613989
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... ORPHA:198
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Fibrochondrogenesis 1
Hypoplastic toenails, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long b... OMIM:228520
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Abnormality of the calf musculature, Leukocytosis, Absent patel... ORPHA:206594
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... ORPHA:2442
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... ORPHA:36234
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair, Lymphopenia, Increased circulating IgA le... OMIM:616395
Tularemia
Increased circulating antibody level, Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Hepatosplenomegaly, Decreased HDL cholesterol concentration, Decreased circulating apolip... ORPHA:85450
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hyp... OMIM:617591
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Anemia, Hyperuricemia OMIM:174000
Boutonneuse Fever
Leukopenia, Abnormality of the plantar skin of foot, Increased circulating IgM level, Thrombocyto... ORPHA:83313
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Micrognathia, Elevated circulating creatinine concentration OMIM:154230
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... OMIM:617099
Chédiak-Higashi Syndrome
Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h... ORPHA:167
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Congenital Analbuminemia
Pedal edema, Increased circulating antibody level, Increased alpha-globulin, Hypoproteinemia, Hyp... ORPHA:86816
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... ORPHA:3214
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Hallux valgus, Premature graying of hair, Increased circulating interleu... OMIM:256040
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly OMIM:618541
Poems Syndrome
Metaphyseal sclerosis, Leukonychia, Increased circulating antibody level, Polycythemia, Clubbing ... ORPHA:2905
Juvenile Nephropathic Cystinosis
Aminoaciduria, Hypocalcemic tetany, Abnormal long bone morphology, Hypophosphatemia, Hypokalemia,... ORPHA:411634
Zika Virus Disease
Retinal pigment epithelial mottling, Thrombocytopenia, Ankle swelling, Increased circulating IgM ... ORPHA:448237
Viss Syndrome
Hypereosinophilia, Alopecia, Genu valgum, Arachnodactyly, Sparse scalp hair, Micrognathia, Hip dy... OMIM:619472
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Increased circulating IgE level, Elevated circulating C-reactiv... ORPHA:449563
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Micrognathia, Decreased circulating IgA lev... OMIM:242860
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... OMIM:164745
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeostasis, Panhypogammaglobulinemia... ORPHA:84064
Trichinellosis
Increased circulating IgE level ORPHA:863
Schneckenbecken Dysplasia
Hypoplastic toenails, Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thicken... ORPHA:3144
Igg4-Related Retroperitoneal Fibrosis
Pedal edema, Normocytic anemia, Increased blood urea nitrogen, Elevated circulating C-reactive pr... ORPHA:49041
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Hypercholesterolemia, Argininuria, Thrombocytop... ORPHA:470
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Hyperpigmentation of the skin ORPHA:48377
Vici Syndrome
Leukopenia, Hypopigmentation of the skin, T lymphocytopenia, Decreased T cell activation, Ocular ... OMIM:242840
Marburg Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Hypokalemia, Reticulocytosis, Lymphopenia, Elev... ORPHA:99826
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... OMIM:200980
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Abnormal toenail... ORPHA:1827
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Gaucher Disease Type 1
Leukopenia, Anemia, Pedal edema, Increased circulating antibody level, Hypersplenism, Pancytopeni... ORPHA:77259
Autoimmune Hepatitis
Increased total bilirubin, Increased circulating antibody level, Vitiligo, Increased circulating ... ORPHA:2137
Acrodysostosis With Multiple Hormone Resistance
Short phalanx of finger, Short toe, Hyperphosphatemia, Short metacarpal, Absent/hypoplastic paran... ORPHA:280651
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Finger syndactyly, Coarse hair, Micrognathia, Widow's peak, Clinodactyly of the 5th fin... ORPHA:1974
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Elevated circulating creatine kinase... OMIM:610377
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Brittle Cornea Syndrome 1
Red hair, Congenital hip dislocation, Palmoplantar cutis laxa OMIM:229200
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Reduced hematocrit, Increased circulating antibody level, Normocytic anemia, Abnor... ORPHA:91500
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... ORPHA:140
Brittle Cornea Syndrome
Hallux valgus, Abnormality of hair pigmentation, Hip dysplasia, Camptodactyly, Arachnodactyly, Ab... ORPHA:90354
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... ORPHA:238468
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Hemorrhagic Fever-Renal Syndrome
Anemia, Hyperphosphatemia, Increased circulating interleukin 6 concentration, Hyperkalemia, Leuko... ORPHA:340
Prader-Willi Syndrome
Genu valgum, Hypopigmentation of the skin, Small hand, Short foot, Generalized hypopigmentation, ... OMIM:176270
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Oligomeganephronia
Micrognathia, Elevated circulating creatinine concentration ORPHA:2260
Yellow Fever
Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Neutrophilia, Elevated cir... ORPHA:99829
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration OMIM:617478
Cranioectodermal Dysplasia 1
Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Short nail, Fine hair, Thin nail,... OMIM:218330
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... OMIM:236680
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Decreased circulating IgG level, Thick hair, Long eyelashes, Abnormality of r... ORPHA:505248
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating complement factor B c... ORPHA:2298
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Monoclonal elevation of IgG,... ORPHA:91139
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... OMIM:114290
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Ocular albinism, Iris hypopigmentation, Abnormal thumb morphology, Hypopigmentation of ha... ORPHA:2719
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration ORPHA:90003
Degcags Syndrome
Polydactyly, Premature graying of hair, Toe syndactyly, Micrognathia, Synophrys, Hepatosplenomega... OMIM:619488
Al Amyloidosis
Anemia, Howell-Jolly bodies, Increased circulating antibody level, Increased circulating NT-proBN... ORPHA:85443
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Small hand, Micrognathia, Iris hypopigmentation, Clinodactyly, Clin... ORPHA:177907
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Eosinophilia ORPHA:555905
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Limitation of move... ORPHA:98794
Duane Retraction Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Patchy hypopigme... ORPHA:233
Ebola Hemorrhagic Fever
Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Increased circulating IgA level, Increased circulating ... ORPHA:186
Selective Igm Deficiency
Decreased circulating total IgM, Neutropenia in presence of anti-neutropil antibodies, Decreased ... ORPHA:331235
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Hip dislocation, Arachnodactyly ORPHA:96169
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Genu valgum, Splenomegaly, Hypopigmentation of the sk... OMIM:219800
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot ORPHA:398079
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... OMIM:304120
Cystic Echinococcosis
Increased circulating antibody level, Splenic cyst, Hyperbilirubinemia, Eosinophilia ORPHA:400
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Distal lower limb muscle weakness, Hyponatrem... ORPHA:79139
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:98754
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... ORPHA:79430
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:177901
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Granulomatosis ORPHA:93126
Smith-Lemli-Opitz Syndrome
Talipes calcaneovalgus, 2-3 toe syndactyly, Rhizomelia, Finger syndactyly, Micrognathia, Abnormal... ORPHA:818
Alveolar Echinococcosis
Pedal edema, Anemia, Increased circulating antibody level, Abnormal spleen morphology, Abnormal p... ORPHA:284
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Pes cavus, Elevated circulating alpha-fetoprotein concentration, Increased circulating antibody l... OMIM:606002
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot ORPHA:398069
Prader-Willi-Like Syndrome
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:398073
Kinsship Syndrome
Polydactyly, Coxa valga, Micrognathia, Synophrys, Hip dislocation, Dislocated radial head, Hypert... OMIM:619297
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Increased circulating IgA leve... OMIM:260920
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... ORPHA:2753
Primary Sjögren Syndrome
Leukopenia, Decreased circulating complement C3 concentration, Decreased circulating antibody lev... ORPHA:289390
Scleromyxedema
Paraproteinemia, Elevated circulating creatine kinase concentration ORPHA:167635
Q Fever
Anemia, Increased circulating antibody level, Cryoglobulinemia, Hepatosplenomegaly, Thrombocytope... ORPHA:781
Tick-Borne Encephalitis
Leukopenia, Abnormality of serum cytokine level, Elevated circulating C-reactive protein concentr... ORPHA:297
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... ORPHA:163746
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Polydactyly, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Syndactyl... OMIM:619534
Prader-Willi Syndrome
Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot ORPHA:739
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Rift Valley Fever
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level ORPHA:319251
Menkes Disease
Micrognathia, Woolly hair, Hypopigmentation of hair, Sparse hair, Abnormal metaphysis morphology,... ORPHA:565
Aicardi-Goutieres Syndrome 7
Anemia, Hemolytic anemia, Increased circulating antibody level, Pancytopenia, Increased circulati... OMIM:615846
Gaucher Disease Type 3
Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly ORPHA:77261
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Hypoplastic toenails, Curly hair, Small hand, Micrognathia, Synophrys, Long eyel... ORPHA:444077
Brucellosis
Sacroiliac arthritis, Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Elevated c... ORPHA:1304
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Charge Syndrome
Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... OMIM:214800
Lassa Fever
Increased circulating IgM level ORPHA:99824
Postinfectious Vasculitis
Elevated haptoglobin level, Increased circulating antibody level, Cryoglobulinemia, Elevated circ... ORPHA:48435
Gaucher Disease
Anemia, Abnormality of skin pigmentation, Increased circulating antibody level, Pancytopenia, Ele... ORPHA:355
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Coccidioidomycosis
Abnormal long bone morphology, Abnormal metacarpal morphology, Broad metatarsal, Eosinophilia, In... ORPHA:228123
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia, Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology, Pancytopenia, Clubbing, S... OMIM:181000
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Increased circulating IgG4 level, Increased circulating IgA level, Increased ci... ORPHA:79078
Crimean-Congo Hemorrhagic Fever
Leukopenia, Neutrophilia, Pancytopenia, Elevated circulating creatine kinase concentration, Leuko... ORPHA:99827
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatosplenomegaly, Polyclonal elevation of IgM, Histiocytosis, S... ORPHA:171
Cysticercosis
Increased circulating antibody level ORPHA:1560

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Srsf4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Srsf4.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Srsf4tm1a(EUCOMM)Wtsi Srsf4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Srsf4tm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Srsf4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Srsf4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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