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Gene: Phf20 MGI:2444148

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Gene Summary

Name:
PHD finger protein 20
Synonyms:
6820402O20Rik

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 Phf20tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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.

Histopathology

Images

1 Images

View images
Legacy Phenotype Associated Images
Phf20tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Phf20tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Phf20tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Phf20tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Phf20tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI

View all 168 images

Phf20tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Phf20tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Phf20tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Phf20tm1a(EUCOMM)Wtsi
eye, abnormal optic disc morphology, HET, Female, WTSI

Human diseases caused by Phf20 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 Phf20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Intermediate Osteopetrosis
Increased susceptibility to fractures, Back pain, Anemia, Osteomyelitis, Recurrent fractures, Gen... ORPHA:210110
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... OMIM:617241
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... ORPHA:417
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Scoliosis ORPHA:53697
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Scler... OMIM:611490
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... ORPHA:77297
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures, Bone pain ORPHA:57782
Monosomy 5P
Recurrent fractures, Inguinal hernia, Short neck, Joint hyperflexibility, Scoliosis, Abnormality ... ORPHA:281
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormality of the vertebral... OMIM:166600
Osteopetrosis, Autosomal Dominant 3
Anemia, Recurrent fractures, Hyperparathyroidism, Osteopenia, Hepatomegaly, Splenomegaly OMIM:618107
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia,... OMIM:603554
Beta-Thalassemia Intermedia
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... ORPHA:231222
Immunodeficiency 104
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... OMIM:608971
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Avascular necrosis, Kyphosis, Increased bone mineral density, Hype... ORPHA:77259
Aggressive Systemic Mastocytosis
Anemia, Neutropenia, Weight loss, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Oste... ORPHA:98850
Wilson Disease
Back pain, Anemia, Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Bone pain, Hepatic ste... ORPHA:905
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Death in childhood, Splenomegaly OMIM:619164
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Cutaneous abscess, Joint hypermobility, Osteopenia, Scoliosis, Eosinophilia,... OMIM:147060
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Increased susceptibility to fractures, Kyphosis, Atrophic scars, Joint laxity, Premature osteoart... OMIM:130060
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pa... OMIM:259700
Hypophosphatasia, Infantile
Vertebral clefting, Increased susceptibility to fractures, Anemia, Death in infancy, Unossified v... OMIM:241500
Immunodeficiency 9
Failure to thrive, Hypoplasia of the thymus, Amelogenesis imperfecta, Death in infancy OMIM:612782
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count, Hepatosplen... OMIM:259710
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Hypoplasia of the thymus, Death in infancy, Interface hepatitis, Lymphopenia, ... OMIM:243150
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Increased susceptibility to fractures, Elbow flexion contracture, Abnormal vertebral morphology, ... ORPHA:93359
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Recurrent fractures, Nodular goiter, Follicular thyroid carcinoma... ORPHA:319487
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Absence of secondary sex characteristics, Increased circulating gonadotropin... ORPHA:2410
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Lymphadenopathy, Dec... OMIM:615513
Systemic Mastocytosis With Associated Hematologic Neoplasm
Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increased basophil c... ORPHA:98849
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Hyperextensibility of... OMIM:610967
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Kyphosis, Verte... OMIM:259450
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Increased susceptibility to fractures, Reduced natural killer cell count, Cutaneous abscess, Lymp... OMIM:619752
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 19
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... OMIM:615617
Albers-Schönberg Osteopetrosis
Anemia, Avascular necrosis, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteoscler... ORPHA:53
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Joint contracture of the hand, Jaundice, Camptodactyly, Intrahepatic bi... OMIM:214110
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... OMIM:259440
Gaucher Disease, Type I
Anemia, Avascular necrosis, Hypersplenism, Vertebral compression fracture, Pancytopenia, Hepatome... OMIM:230800
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Vertebral wedging, Jo... OMIM:301014
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Recurrent fractures, Nodular goiter, Chronic noninfectious lympha... ORPHA:97290
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Dentinogenesis imperfecta, Recurrent fractures, Decreased circulating osteocalc... OMIM:619795
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Gorham-Stout Disease
Abnormality of the cervical spine, Osteomyelitis, Abnormal bone ossification, Osteolysis involvin... ORPHA:73
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... ORPHA:2176
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Hypophosphatasia
Craniosynostosis, Anemia, Failure to thrive in infancy, Recurrent fractures ORPHA:436
Mycetoma
Back pain, Osteomyelitis, Abnormality of the lymphatic system, Painless fractures due to injury, ... ORPHA:2583
Stuve-Wiedemann Syndrome 2
Camptodactyly, Scoliosis, Stillbirth, Death in adolescence, Thrombocytopenia, Neonatal death, Int... OMIM:619751
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Increased spinal bone density, Bone pain ORPHA:329475
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Pycnodysostosis
Hyperlordosis, Spondylolysis, Increased susceptibility to fractures, Enamel hypoplasia, Decreased... ORPHA:763
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Increased susceptibility to fractures, Scoliosis, Recurrent fractures OMIM:615066
Hypophosphatasia, Adult
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Chondrocalcino... OMIM:146300
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization, Osteolysis, Hyperparathy... ORPHA:93160
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased calvarial ossif... OMIM:259410
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Maffucci Syndrome
Ovarian neoplasm, Parathyroid adenoma, Recurrent fractures, Neoplasm of the parathyroid gland, Ne... ORPHA:163634
Osteogenesis Imperfecta, Type Vi
Increased susceptibility to fractures, Biconcave vertebral bodies, Joint laxity, Beaking of verte... OMIM:613982
Lethal Congenital Contracture Syndrome 10
Stiff neck, Hypoplasia of the thymus, Short neck, Thoracic scoliosis, Omphalocele, Intrauterine g... OMIM:617022
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... ORPHA:562
Osteogenesis Imperfecta, Type Xi
Increased susceptibility to fractures, Biconcave vertebral bodies, Dentinogenesis imperfecta, Ver... OMIM:610968
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Premature thelarche, Arthritis, Nodular goiter, Osteolysis... ORPHA:371428
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to thrive, Failure to thrive secondary t... OMIM:601457
Isolated Anencephaly
Maternal diabetes, Congenital diaphragmatic hernia, Omphalocele, Thymus hyperplasia, Intrauterine... ORPHA:563609
Bruck Syndrome 2
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... OMIM:609220
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Kyphosis, Hypogonadism, Short neck, Cryptorchidism,... ORPHA:3409
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Increased susceptibility to fractures, Hepatic steatosis, Osteolysis, Calvarial hy... ORPHA:52430
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Absent tonsils, Absence of ... ORPHA:277
Glycerol Kinase Deficiency
Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Cryptorchidism, Path... OMIM:307030
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Fetal Gaucher Disease
Flexion contracture, Death in infancy, Arthrogryposis multiplex congenita, Pancytopenia, Thromboc... ORPHA:85212
Mirage Syndrome
Leukopenia, Anemia, Radial club hand, Decreased body weight, Decreased testicular size, Adrenal i... OMIM:617053
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Cryptorchidism, In... ORPHA:2772
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Pathologic fracture, Osteopenia, Bone cyst OMIM:618193
Gracile Bone Dysplasia
Asplenia, Death in infancy, Failure to thrive, Decreased skull ossification, Hypoplastic spleen OMIM:602361
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... OMIM:231070
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis, Bone pain OMIM:174810
Geroderma Osteodysplastica
Biconcave vertebral bodies, Abnormal bone ossification, Recurrent fractures, Hernia, Scoliosis, J... ORPHA:2078
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Isosexual precocious puberty, Joint laxity, Osteopenia, Os... ORPHA:2788
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Connective tissue nevi, Arthritis, Osteopoikilosis, Gen... ORPHA:1306
Syndromic Diarrhea
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, ... ORPHA:84064
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Increased bone mineral den... OMIM:614856
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, L... OMIM:208900
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... OMIM:615220
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Death in infancy, Joint laxity, Inguinal... OMIM:613177
Bruck Syndrome
Recurrent fractures, Kyphosis, Osteoporosis, Scoliosis, Platyspondyly, Joint stiffness, Arthrogry... ORPHA:2771
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Recurrent fractures, Cellulitis, Osteopenia, Joint hyperflexibility, Scoliosis, Eo... ORPHA:2314
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Wrist flexion contracture, Hip contracture, Recurrent fractures, Joint ... OMIM:193700
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures,... OMIM:259420
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Avascular necrosis, Increased bone mineral density... ORPHA:77261
Variant Abeta2M Amyloidosis
Knee pain, Wrist pain, Pathologic fracture, Abnormal salivary gland morphology, Multiple bony cys... ORPHA:314652
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased susceptibility to fractures, Hyperaldosteronism, Increased circulating cortisol level, ... ORPHA:189427
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Dentinogenesis imperfecta, Bowing of limbs due to multiple... OMIM:166220
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Joint contracture of the hand, Corneal scarring, Jaundice, Osteolysis, Thromboc... OMIM:263700
Rin2 Syndrome
Increased susceptibility to fractures, Joint hypermobility, Scoliosis, Hypergonadotropic hypogona... ORPHA:217335
Dermatitis Herpetiformis
Recurrent fractures, Microcytic anemia, Bone pain ORPHA:1656
Osteootohepatoenteric Syndrome
Anemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Recurrent fractures, Weight loss, Ava... OMIM:619377
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Enamel hypoplasia, Osteomalacia, Sparse ... ORPHA:289157
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Advanced ossification of carpal bones, Decreased body weig... OMIM:615349
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Increased susceptibility to fractures, Anemia, Intrauterine growth retardation, Osteopenia, Scoli... OMIM:612199
Achondrogenesis Type 1A
Femoral hernia, Abnormal enchondral ossification, Recurrent fractures, Short neck, Umbilical hernia ORPHA:93299
Marshall-Smith Syndrome
Increased susceptibility to fractures, Accelerated skeletal maturation, Failure to thrive, Joint ... ORPHA:561
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Vertebral compression fracture, Osteoporosis, Bone pain ORPHA:85193
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Epiphyseal stippling, Hypoplastic vertebral bodies... OMIM:215140
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Neoplasm of the thyroid gland, Reduced bone mineral density, Lymphangioma, O... ORPHA:137608
Hyperparathyroidism, Neonatal Severe
Anemia, Recurrent fractures, Failure to thrive, Elevated circulating parathyroid hormone level, H... OMIM:239200
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Bone pain, Osteolysis, Osteosclerosis of the ulna, Vertebr... OMIM:602080
Primary Pigmented Nodular Adrenocortical Disease
Increased susceptibility to fractures, Increased circulating cortisol level, Abnormal subcutaneou... ORPHA:189439
Multiple Myeloma
Anemia, Weight loss, Lymphadenopathy, Osteopenia, Vertebral compression fracture, Pathologic frac... ORPHA:29073
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 2nd finger, C... OMIM:612394
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Joint hyperflexibility, Delayed skeletal maturation, Recurrent fractures ORPHA:2324
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
H Syndrome
Hernia, Recurrent fractures, Hypogonadism, Decreased testicular size, Camptodactyly, Hepatospleno... ORPHA:168569
Immunodeficiency 68
Lymphadenitis, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia, B lymphoc... OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Pathologic fracture, Abnormal cortical bone morphology, Limitation of ... ORPHA:166277
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Generali... OMIM:613849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive, Severe B lymphocy... OMIM:102700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Small for gestational age, Multiple prenatal fractures, Sh... OMIM:616897
Mastocytosis
Splenomegaly, Recurrent fractures, Mastocytosis, Hepatomegaly, Acute leukemia, Osteoporosis, Chro... ORPHA:98292
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation ORPHA:89844
Lysinuric Protein Intolerance
Leukopenia, Splenomegaly, Anemia, Recurrent fractures, Pancreatitis, Failure to thrive, Hemophago... OMIM:222700
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Increased bone mineral density, Coarse metaph... ORPHA:1782
Solitary Bone Cyst
Back pain, Unicameral bone cyst, Pathologic fracture, Abnormal form of the vertebral bodies, Bone... ORPHA:83468
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Abnormal cervical c... OMIM:312150
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Arthritis, Abnormal eosinophil morphology, Ly... ORPHA:906
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility, Short neck,... ORPHA:1486
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita ORPHA:171433
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Sparse bone trabeculae, Bone pain, Seco... OMIM:264700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Sparse bone trabeculae, Bone pain, Seco... OMIM:277440
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobil... OMIM:617952
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... ORPHA:436252
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Scoliosis, Platyspondyly, Osteoporosis OMIM:126550
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Abnormal cervical c... OMIM:253290
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, T lymphocytopenia, Kyphosis, Abnormal B ce... OMIM:618223
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Increased susceptibility to fractures, Nodular regenerative hyperplasia of liver, Tarsal sclerosi... ORPHA:404454
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased prop... OMIM:619510
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus ORPHA:3004
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Hyperostosis, Dentinogenesis imperfecta, Limited elbow ext... OMIM:604922
Dysplasia Epiphysealis Hemimelica
Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Tarsal synostosis, Osteoar... ORPHA:1822
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis, Bone pain OMIM:616833
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Bone pain, Rickets, Failure to thr... OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Bone pain, Rickets, Failure to thr... OMIM:241530
Fibrous Dysplasia Of Bone
Thin bony cortex, Hyperpituitarism, Osteolysis, Testicular neoplasm, Ovarian cyst, Fibrous dyspla... ORPHA:249
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Small for gestational age, Multiple prenatal fractures, Platyspondyly, Absen... OMIM:166210
Rothmund-Thomson Syndrome
Increased susceptibility to fractures, Anemia, Small for gestational age, Abnormal trabecular bon... ORPHA:2909
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita OMIM:616867
Mucolipidosis Ii Alpha/Beta
Lower thoracic interpediculate narrowness, Splenomegaly, Death in childhood, Lumbar scoliosis, Be... OMIM:252500
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Recurrent fractures, Coronal craniosynostosis, Scoliosis, Osteopenia, ... OMIM:112240
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Splenic cyst, Inguinal hernia, Fractured rib, Hyperparathyroidism, Osteopeni... OMIM:618188
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Joint hypermobility, Inguinal hernia, Scoliosis, Reduced bone mineral density OMIM:619115
Prader-Willi Syndrome
Central hypothyroidism, Increased susceptibility to fractures, Precocious puberty, Decreased resp... ORPHA:739
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Delayed puberty, Obesity, Craniosynostosis, Abnor... ORPHA:251004
Osteosarcoma
Osteolysis, Pathologic fracture, Weight loss ORPHA:668
Dysosteosclerosis
Increased susceptibility to fractures, Irregular vertebral endplates, Increased intervertebral sp... OMIM:224300
Hajdu-Cheney Syndrome
Biconcave vertebral bodies, Splenomegaly, Hernia, Recurrent fractures, Kyphosis, Coarse metaphyse... ORPHA:955
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Joint laxity, Inguinal hernia, Multiple... OMIM:610915
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Small for gestational age, Joint hypermobility, Osteopenia, Decreased calvar... OMIM:616229
Treacher-Collins Syndrome
Hypoplasia of the thymus, Thyroid hypoplasia, Failure to thrive, Abnormality of the adrenal gland... ORPHA:861
Gaucher Disease
Increased bone mineral density, Osteolysis, Delayed skeletal maturation, Hepatomegaly, Thrombocyt... ORPHA:355
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... OMIM:618108
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Increased susceptibility to fractures, Chronic neutropenia, Anemia, Hypothyroidism, Thyroiditis, ... ORPHA:79259
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnormal testis morphology, Polycystic ... ORPHA:457059
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteopenia, Osteoporosis OMIM:612287
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, ... OMIM:606367
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Increased susceptibility to fractures, Intrauterine growth retardation, Joint hy... ORPHA:357058
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypical or pro... ORPHA:83471
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Pathologic fracture, Abnormality of the liver OMIM:112200
Dyskeratosis Congenita
Splenomegaly, Anemia, Cirrhosis, Recurrent fractures, Avascular necrosis, Abnormal testis morphol... ORPHA:1775
Osteogenesis Imperfecta
Flexion contracture, Thrombocytopenia, Abnormal form of the vertebral bodies, Abnormal dental ena... ORPHA:666
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... ORPHA:652
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Osteopenia, Osteoporosis OMIM:612286
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Biconcave vertebral bodies, Severe platyspondyly, Kyphosis... OMIM:259770
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Coronal craniosynostosis, Osteopenia, P... OMIM:616294
Juvenile Paget Disease
Cranial hyperostosis, Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures ORPHA:2801
Mucopolysaccharidosis Type 3
Increased susceptibility to fractures, Flexion contracture, Avascular necrosis of the capital fem... ORPHA:581
Osteogenesis Imperfecta, Type I
Increased susceptibility to fractures, Dentinogenesis imperfecta, Recurrent fractures, Joint hype... OMIM:166200
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Ankylosis, Failure to thrive, Macu... OMIM:239000
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Joint hypermobility, Scoliosis, Platyspondyly, Osteoporosis OMIM:619131
22Q11.2 Deletion Syndrome
Hypothyroidism, Cryptorchidism, Hypoplasia of the thymus, Hyperthyroidism, Arthritis, Intrauterin... ORPHA:567
Proteus-Like Syndrome
Polycystic ovaries, Hyperostosis, Shagreen patch, Abnormality of the parathyroid gland, Thymus hy... ORPHA:2969
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Limited elbow movement, Failure to thrive, Osteolysis, Decreased serum lepti... OMIM:614008
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures, Weight loss ORPHA:216866
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Multiple joint contractures, Elbow flexion contracture, Congenital kyphoscol... ORPHA:536471
Oncogenic Osteomalacia
Increased susceptibility to fractures, Abnormal vertebral morphology, Pathologic fracture, Fibrou... ORPHA:352540
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Joint hyperflexibility, Scoliosis, Intrauterine growth retardation... ORPHA:2050
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Hemolytic anemia, Osteomalacia, Bone pain, Rickets, Failur... ORPHA:18
Lathosterolosis
Acanthocytosis, Bilobate gallbladder, Anisopoikilocytosis, Butterfly vertebrae, Increased mean pl... OMIM:607330
Hamamy Syndrome
Enamel hypoplasia, Recurrent fractures, Inguinal hernia, Osteopenia, Hypoparathyroidism, Hypochro... OMIM:611174
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Hypophosphatemic rickets, Reduced bone mineral density, Decreased circulating parat... ORPHA:157215
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Osteomyelitis, Recurrent fractures ORPHA:453510
Aspartylglucosaminuria
Macroorchidism, Spondylolysis, Hernia, Neutropenia, Kyphosis, Joint laxity, Spondylolisthesis, De... OMIM:208400
Digeorge Syndrome
Hypothyroidism, Splenomegaly, Anemia, Hypoplasia of the thymus, Hydrocele testis, Hepatic steatos... OMIM:188400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Increased susceptibility to fractures, Cirrhosis, Microvesicular hepatic steatosis, Osteomyelitis... OMIM:256810
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Biconcave vertebral bodies, Foot acroosteolysis,... OMIM:102500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Increased susceptibility to fractures, Generalized joint laxity, Decreased testicular size, Short... ORPHA:251028
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Recurrent fractures, Keloids, Fai... OMIM:601812
Fanconi Renotubular Syndrome 2
Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone level, Osteo... OMIM:613388
Immunodeficiency 17
T lymphocytopenia, Abnormal B cell morphology, Death in infancy, Decreased proportion of CD8-posi... OMIM:615607
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Bone pain, Rickets, ... OMIM:300554
Brittle Cornea Syndrome
Increased susceptibility to fractures, Hernia, Corneal scarring, Camptodactyly, Joint hyperflexib... ORPHA:90354
Rothmund-Thomson Syndrome Type 2
Anemia, Neutropenia, Small for gestational age, Finger symphalangism, Abnormal trabecular bone mo... ORPHA:221016
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Death in infancy, Congenital contracture OMIM:619036
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Recurrent fractures, Elliptocytosis, Enlarged tonsils, Pancytopenia, Secondar... ORPHA:2785
Craniopharyngioma
Enlarged pituitary gland, Increased susceptibility to fractures, Increased circulating prolactin ... ORPHA:54595
Keppen-Lubinsky Syndrome
Increased susceptibility to fractures, Flexion contracture, Decreased testicular size, Lipodystro... ORPHA:435628
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Recurrent fractures, Elbow flexion contracture, Accelerated skeletal maturation, Radioulnar synos... OMIM:245600
Stüve-Wiedemann Syndrome
Sacral dimple, Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Hypothyroi... ORPHA:3206
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... OMIM:600802
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Pathologic fracture, Osteomyelitis ORPHA:36386
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, Autoimmune thrombo... ORPHA:77293
Autosomal Recessive Malignant Osteopetrosis
Anemia, Recurrent fractures, Bone pain, Lymphadenopathy, Hepatomegaly, Osteopetrosis, Craniosynos... ORPHA:667
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Dentinogenesis imperfecta, Multiple joint contractures, R... ORPHA:536467
Kallmann Syndrome
Recurrent fractures, Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotrop... ORPHA:478
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture OMIM:607278
Osteoglophonic Dysplasia
Increased susceptibility to fractures, Failure to thrive, Inguinal hernia, Short neck, Cryptorchi... OMIM:166250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Recurrent fractures, Hyperextensibility of the finger joints, Kyphoscoliosis, S... OMIM:309583
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hip contracture, Hypoparathyroidism, Osteopenia, Pathologic fracture OMIM:156400
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Recurrent fractures, Kyphosis, Abnormal cortical bone morp... ORPHA:2769
Spinal muscular atrophy, type I, with congenital bone fractures
Multiple prenatal fractures, Flexion contracture, Osteopenia OMIM:271225
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypoplasia of the thymus, Increased serum testosterone level, Small for gest... OMIM:264090
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Enthesitis, Arthritis, Synovitis, Osteolysis, Craniofacial os... ORPHA:793
Marshall-Smith Syndrome
Decreased body weight, Recurrent fractures, Kyphosis, Decreased hip abduction, Thoracic kyphosis,... OMIM:602535
Lysinuric Protein Intolerance
Leukopenia, Anemia, Cirrhosis, Decreased response to growth hormone stimulation test, Pancreatiti... ORPHA:470
Severe Congenital Nemaline Myopathy
Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Arthrogryposis mul... ORPHA:171430
Dent Disease 1
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Bone pain, Rickets, ... OMIM:300009
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Recurrent fractures, Kyphoscoliosis, Hypophosphatemic rickets, Osteopenia OMIM:163200
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Monosomy 22
Contractures of the large joints, Hepatosplenomegaly, Hypochromic microcytic anemia, Short neck, ... ORPHA:96123
Al-Gazali Syndrome
Wrist flexion contracture, Recurrent fractures, Failure to thrive, Osteopenia, Proximal radio-uln... OMIM:609465
Pearson Syndrome
Hypothyroidism, Anemia, Abnormality of the liver, Decreased response to growth hormone stimulatio... ORPHA:699
Cleidocranial Dysplasia
Recurrent fractures, Abnormal sacrum morphology, Spina bifida occulta, Scoliosis, Decreased skull... ORPHA:1452
Microphthalmia, Syndromic 9
Multilobulated spleen, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplas... OMIM:601186
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Elbow ankylosis, Joint stiffness, Craniosynostosis ORPHA:83
Brittle Cornea Syndrome 2
Inguinal hernia, Recurrent fractures, Umbilical hernia, Joint hypermobility OMIM:614170
Stuve-Wiedemann Syndrome 1
Knee flexion contracture, Death in infancy, Elbow flexion contracture, Camptodactyly, Thickened c... OMIM:601559
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Abnormal dental enamel morphology, Diabetes insipidus, Recurrent fractures, Ost... ORPHA:534
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:619120
Congenital Disorder Of Glycosylation, Type Iib
Thoracic scoliosis, Recurrent fractures, Hepatomegaly OMIM:606056
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Osteogenesis Imperfecta, Type Xx
Vertebral compression fracture, Multiple prenatal fractures, Intrauterine growth retardation, Kyp... OMIM:618644
Grange Syndrome
Increased susceptibility to fractures, Decreased body weight, Recurrent fractures OMIM:602531
Campomelic Dysplasia
Tracheobronchomalacia, Recurrent fractures, Kyphosis, Poorly ossified cervical vertebrae, Short n... ORPHA:140
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Inguinal hernia, Supernumerary nipple, Joint hypermobility OMIM:619122
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Irregular vertebral endplates, Decreased body weight, Flexion contracture, Advanced ossification ... OMIM:271640
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita OMIM:616866
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Flexion contracture, Recurrent fractures, Atrophic scars, Radioulnar synostosis, Joint laxity, Ac... OMIM:130070
Classic Homocystinuria
Hernia, Recurrent fractures, Kyphosis, Scoliosis, Hepatomegaly, Joint stiffness, Osteoporosis ORPHA:394
Cerebrotendinous Xanthomatosis
Increased susceptibility to fractures, Hypothyroidism, Thoracic kyphosis, Abnormality of the vert... ORPHA:909
Menkes Disease
Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Hernia, Prolonged neonatal jaundice, Ingui... ORPHA:565
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Enamel hypoplasia, Kyphosis, Osteomalacia, Joint contracture of the hand... OMIM:309000
Cleidocranial Dysplasia 1
Increased susceptibility to fractures, Spondylolysis, Enamel hypoplasia, Kyphosis, Increased bone... OMIM:119600
Neurofibromatosis Type 1
Multiple lipomas, Precocious puberty, Recurrent fractures, Kyphosis, Pheochromocytoma, Delayed pu... ORPHA:636
Familial Dysautonomia
Avascular necrosis, Recurrent fractures, Abnormality of the peritoneum, Osteolysis, Scoliosis ORPHA:1764
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Kyphosis, Camptodactyly, Testicular atrophy, Kyphoscoliosis, Abnormality of ... ORPHA:3063
Dent Disease
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Bone pain, Rickets, ... ORPHA:1652
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Hypogonadism, Jaundice, Pathologic fracture, Diabetes mellitus, Osteopenia, Cryptorchidism, Obesity OMIM:614231
Osteogenesis Imperfecta, Type Vii
Recurrent fractures, Death in infancy, Multiple prenatal fractures, Osteopenia, Scoliosis, Decrea... OMIM:610682
Proteus Syndrome
Macroorchidism, Ovarian neoplasm, Neoplasm of the thymus, Diabetes insipidus, Enlarged polycystic... ORPHA:744
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus, Intrauterine growth retardation ORPHA:3384
Hallermann-Streiff Syndrome
Hypothyroidism, Recurrent fractures, Cryptorchidism, Tracheomalacia, Abdominal situs inversus, Re... ORPHA:2108
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Inguinal hernia, Short neck, Scoliosi... OMIM:271520
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Weight loss, Osteomalacia, Hypophosphatemic rickets, Bone ... ORPHA:3337
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Radioulnar synostosis, Supernumerary nipple, Cryptorchidism OMIM:263750
3Q29 Microdeletion Syndrome
Six lumbar vertebrae, Failure to thrive, Joint hyperflexibility ORPHA:65286
Primary Hyperoxaluria
Failure to thrive, Recurrent fractures, Generalized osteosclerosis, Bone pain ORPHA:416
Autosomal Recessive Cutis Laxa Type 1
Hernia, Joint laxity, Inguinal hernia, Pathologic fracture, Intrauterine growth retardation ORPHA:90349
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture, Bone pain OMIM:259900
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Polysplenia, Accelerated skeletal maturation, Supernumerary nipple... OMIM:312870
Mowat-Wilson Syndrome
Asplenia, Flexion contracture, Decreased body weight, Recurrent fractures, Camptodactyly, Hydroce... ORPHA:2152
Waardenburg Syndrome, Type 1
Supernumerary vertebrae OMIM:193500

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.

Phenotype Allele Zygosity Sex Life Stage
Sternum - developmental and structural abnormality Phf20tm1a(EUCOMM)Wtsi HOM Early adult

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 Phf20.

There are 3 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) Phf20tm1a(EUCOMM)Wtsi Phf20tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Phf20tm1a(EUCOMM)Wtsi PMC6459510
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers. Nucleic acids research (December 2017) Phf20tm1a(EUCOMM)Wtsi PMC5716182

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Phf20tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Phf20tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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