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Gene: Adamts9 MGI:1916320

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Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 9
Synonyms:
Gsfund3,  UND4,  Mhdaund3,  E030027K14Rik,  UND3,  8430403M15Rik,  1810011L16Rik,  Mhdaund4

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
abnormal embryo size Adamts9tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal eye morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Adamts9tm1b(KOMP)Wtsi HOM Early adult 0.00
embryonic growth retardation Adamts9tm1b(KOMP)Wtsi HET E9.5 0.00
preweaning lethality, incomplete penetrance Adamts9tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to organogenesis Adamts9tm1b(KOMP)Wtsi HOM   E9.5 0.00
abnormal heart morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal lymph node morphology Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged heart Adamts9tm1b(KOMP)Wtsi HET Early adult 0.00

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
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
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 0.0%
bone marrow 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)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 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)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 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)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
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.

Adult LacZ

LacZ Images Section

22 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Hind Leg and Hip

3 Images

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X-ray

XRay Images Forepaw

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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Human diseases caused by Adamts9 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 Adamts9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Dyschromatosis Universalis Hereditaria
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... ORPHA:241
Ethanolaminosis
Cardiomegaly OMIM:227150
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly OMIM:619126
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 104
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Hepatomegaly, Recurrent tonsillitis OMIM:618852
Mast Cell Sarcoma
Lymphadenopathy, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, White eyelashes, White eyebrow, Numerous pigmented freckles,... OMIM:193510
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Congenital Toxoplasmosis
Cardiomegaly, Lymphadenopathy, Hepatomegaly ORPHA:858
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:100024
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:100025
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:603552
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Hepatom... OMIM:615559
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splen... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:300853
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:613101
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:612840
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:2584
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly OMIM:209950
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... ORPHA:85451
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:37748
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:212140
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:391
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:618495
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98848
Pseudo-Torch Syndrome 3
Lymphadenitis, Cardiomegaly OMIM:618886
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:609981
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:607594
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy ORPHA:3386
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619375
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Heme Oxygenase 1 Deficiency
Asplenia, Lymphadenopathy, Hepatomegaly, Cervical lymphadenopathy OMIM:614034
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Right atrial ... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Immunodeficiency 7
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:615387
Lymphoproliferative Syndrome 2
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:615122
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly ORPHA:353298
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79477
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3226
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:601859
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Leishmaniasis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:507
Lymphoproliferative Syndrome 1
Pericardial effusion, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:613011
Adult-Onset Still Disease
Generalized lymphadenopathy, Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Myocarditis... ORPHA:829
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:83469
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Pericardial effusion, Lymphadenopathy, Hepatomegaly, Abnormal heart valve morphology ORPHA:36412
Sickle Cell Disease
Cardiomegaly, Splenic infarction, Splenomegaly, Hepatomegaly OMIM:603903
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly ORPHA:911
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... OMIM:602782
Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphadenopathy, Follicular hyperplasia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Spl... OMIM:603909
Sézary Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3162
Klatskin Tumor
Lymphadenopathy, Hepatomegaly ORPHA:99978
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618935
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:201475
Felty Syndrome
Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:47612
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:257200
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:381
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Legionnaires Disease
Endocarditis, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Myocarditis, Splenomegaly ORPHA:549
Castleman Disease
Restrictive cardiomyopathy, Generalized lymphadenopathy, Lymphadenopathy, Follicular hyperplasia,... ORPHA:160
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Hepatomegaly, Aplasia of the ... OMIM:602450
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... ORPHA:363705
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system ORPHA:54251
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly OMIM:619644
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:465508
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Mixed Connective Tissue Disease
Pericarditis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Myocarditis, Splenomegaly ORPHA:809
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Primary Myelofibrosis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:616100
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Dilated cardiomyopathy, Lymphadenopathy, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:615895
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy, Hepatomegaly ORPHA:79456
Mogs-Cdg
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:79330
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:301078
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Omenn Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:39041
Omenn Syndrome
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:603554
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:100026
Cinca Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:1451
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly OMIM:619802
Q Fever
Endocarditis, Pericardial effusion, Abnormal heart valve morphology, Hepatosplenomegaly, Pericard... ORPHA:781
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly ORPHA:85450
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:169090
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100080
Nephroblastoma
Lymphadenopathy ORPHA:654
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:608013
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Acute Interstitial Pneumonia
Pericardial effusion, Lymphadenopathy ORPHA:79126
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly ORPHA:343
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Tangier Disease
Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Orange discolored ton... ORPHA:31150
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:308552
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly, Hepatomegaly OMIM:308230
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Neuroendocrine Tumor Of The Rectum
Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100082
Lig4 Syndrome
Lymphadenopathy, Hepatomegaly ORPHA:99812
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy OMIM:614921
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Enlarged tonsils, Hepatosplenomegaly OMIM:606367
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:540
Mevalonic Aciduria
Lymphadenopathy, Fluctuating splenomegaly, Fluctuating hepatomegaly, Hepatosplenomegaly OMIM:610377
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Myocarditis ORPHA:139402
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:233710
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Generalized lymphadenopathy, Lymphadenopathy, Hepatomegaly, Cervi... ORPHA:50918
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:267700
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Adenoiditis, Hepatomegaly, Ca... ORPHA:581
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy ORPHA:228308
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy OMIM:614700
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Lymphadenopathy ORPHA:93552
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:617591
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Poems Syndrome
Pericardial effusion, Lymphadenopathy, Visceromegaly ORPHA:2905
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:260920
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Polysplenia, Lymphadenopathy, Accessory spleen, Hepatomegaly, Splenome... OMIM:619418
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:618278
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatomegaly, Hepatosplenomegaly ORPHA:79124
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Lymphadenopathy, Splenomegaly, Abnormal myocardium morphology ORPHA:32960
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:33226
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:214500
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatom... OMIM:615688
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98849
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
H Syndrome
Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Hennekam Syndrome
Pericardial effusion, Pulmonary lymphangiectasia, Lymphadenopathy, Splenomegaly, Lymphangioma ORPHA:2136
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:306400
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Ileal Neuroendocrine Tumor
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis ORPHA:100077
Lymphangioleiomyomatosis
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Chylopericardium, Abnormality of the lymphatic s... ORPHA:538
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Ogden Syndrome
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... OMIM:300855
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Cervical lymp... ORPHA:2442
Chédiak-Higashi Syndrome
Pericardial effusion, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:167
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Brucellosis
Endocarditis, Hypersplenism, Abnormal aortic valve morphology, Pericarditis, Lymphadenopathy, Hep... ORPHA:1304
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:365
Autoimmune Lymphoproliferative Syndrome
Hypersplenism, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Chronic noninfectious ... ORPHA:3261
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Abnormal pulmonary valve morphology, Splenomegaly, Hepatomegaly ORPHA:667
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:130650
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:614162
Coccidioidomycosis
Pericarditis, Abnormality of the spleen, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
Familial Mediterranean Fever
Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:342
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis ORPHA:100076
Behçet Disease
Endocarditis, Pericarditis, Lymphadenopathy, Splenomegaly, Abnormal myocardium morphology ORPHA:117
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatosplenomegaly ORPHA:51
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:256040
Kawasaki Disease
Abnormal heart valve morphology, Pericarditis, Cervical lymphadenopathy, Myocarditis, Double outl... ORPHA:2331
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Cervical lymphadenopathy OMIM:617718
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Dilatation of the ventricular cavity, Ventricu... OMIM:619991
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenome... ORPHA:116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy ORPHA:3472
Williams Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... ORPHA:904
Crimean-Congo Hemorrhagic Fever
Pericardial effusion, Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly ORPHA:99827
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy, Hepatomegaly ORPHA:797
Igg4-Related Kidney Disease
Pericarditis, Enlarged kidney, Lymphadenopathy, Lymphadenitis ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:619381
Marburg Hemorrhagic Fever
Pericarditis, Lymphadenopathy ORPHA:99826
African Trypanosomiasis
Hepatosplenomegaly, Pericarditis, Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly ORPHA:3385
Blau Syndrome
Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:90340
Leptospirosis
Pericarditis, Lymphadenopathy, Hepatomegaly ORPHA:509
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly ORPHA:51608
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889

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 Adamts9

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 Adamts9.

No publications found that use IMPC mice or data for Adamts9.

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MGI Allele Allele Type Produced
Adamts9tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Adamts9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adamts9tm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells

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