Gene Summary

Name:
PHD finger protein 20
Synonyms:
6820402O20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

Histopathology

Images

1 Images

Legacy Phenotype Associated Images

View all 168 images

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
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circu... ORPHA:417
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones ORPHA:53697
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... ORPHA:77297
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Monosomy 5P
Inguinal hernia, Recurrent fractures, Short neck, Joint hyperflexibility, Abnormality of bone min... ORPHA:281
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Wilson Disease
Back pain, Hepatomegaly, Acute hepatitis, Splenomegaly, Jaundice, Bone pain, Increased body weigh... ORPHA:905
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Recurrent fractures, Scoliosis, Joint hypermobility, ... OMIM:147060
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Sandwich appearance of... OMIM:259700
Immunodeficiency 9
Death in infancy, Failure to thrive, Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Hypophosphatasia, Infantile
Death in infancy, Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, De... OMIM:241500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, De... ORPHA:2410
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... OMIM:259450
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Recurrent fractures, Follicular thyroid carcinoma, Bone pa... ORPHA:319487
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat... OMIM:610967
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Scoliosis, Neutropenia, Lymphopenia, Reduced natural kille... OMIM:619752
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, ... OMIM:230800
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cryptorchidism, Jaundice, Death... OMIM:214110
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Vertebral wedging, Scoliosis, Bicon... OMIM:301014
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... OMIM:619795
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil... ORPHA:97290
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Lymphangioma, Osteolysis involving bones of the upper limbs, Bone pain... ORPHA:73
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne... ORPHA:2176
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... OMIM:620366
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Hypophosphatasia
Anemia, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis ORPHA:436
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Intrauterine growth retardation, Recurrent fractures, Death in childhood OMIM:620368
Mycetoma
Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the lymphatic system, Abnormal ... ORPHA:2583
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures ORPHA:329475
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Intrauterine growth r... OMIM:619751
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn... ORPHA:93315
Pycnodysostosis
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... ORPHA:763
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Scoliosis, Increased susceptibility to fractures OMIM:615066
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess... OMIM:612541
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, Increased susce... OMIM:610968
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Bone pain, Osteolysis, Abnorma... ORPHA:93160
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... OMIM:259410
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Maffucci Syndrome
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Osteogenesis Imperfecta, Type Vi
Joint laxity, Vertebral compression fracture, Increased susceptibility to fractures, Biconcave ve... OMIM:613982
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Stiff neck, Short neck, Hypoplasia of the thymus, Intrauterine g... OMIM:617022
Mccune-Albright Syndrome
Accelerated skeletal maturation, Bone pain, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, ... ORPHA:562
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Omphalocele, Premature thelarche, Osteolysis involving bones of the upper limbs, Oste... ORPHA:371428
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... OMIM:601457
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormality of the vertebral co... ORPHA:52430
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... OMIM:609220
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di... ORPHA:563609
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... ORPHA:277
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Short neck, Cryptorchidism, Kyphosis, Osteoporosis,... ORPHA:3409
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Radial club hand, Cryptorchidism, Thrombocyto... OMIM:617053
Fetal Gaucher Disease
Death in infancy, Pancytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly, Flexion co... ORPHA:85212
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst OMIM:618193
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Gracile Bone Dysplasia
Death in infancy, Failure to thrive, Asplenia, Hypoplastic spleen, Decreased skull ossification OMIM:602361
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Abnormal form of the vertebral bo... ORPHA:2078
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased susceptibility to... ORPHA:2788
Familial Expansile Osteolysis
Pathologic fracture, Bone pain, Osteolysis, Thin bony cortex OMIM:174810
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lympho... OMIM:208900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calvarial ossification, In... ORPHA:2772
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom... ORPHA:84064
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... OMIM:614856
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... OMIM:615220
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hyperflexib... ORPHA:2314
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia... OMIM:613177
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... OMIM:259420
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Inguinal hernia, Failure to thrive, Recurrent fra... OMIM:193700
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Delayed skeletal matura... ORPHA:77261
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Hepatic amyloidosis, Wrist pain, Pathologic fracture, Abnormal sali... ORPHA:314652
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Bone marrow hy... OMIM:612199
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Greenberg Dysplasia
Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic vertebral bodi... OMIM:215140
Dermatitis Herpetiformis
Bone pain, Recurrent fractures, Microcytic anemia ORPHA:1656
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... OMIM:166220
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Kyphoscoliosis, Advanced ossification of carpal bones, Increased suscep... OMIM:615349
Multiple Myeloma
Osteopenia, Splenomegaly, Bone pain, Lymphadenopathy, Weight loss, Pathologic fracture, Vertebral... ORPHA:29073
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,... OMIM:263700
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Ovarian neoplasm, Reduced bone mineral density, Lymphangioma, Neoplasm of th... ORPHA:137608
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... OMIM:619377
Marshall-Smith Syndrome
Craniosynostosis, Accelerated skeletal maturation, Increased susceptibility to fractures, Reduced... ORPHA:561
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Fractures of the long bones, Bone pain, Osteolysis, Incr... OMIM:602080
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Increased susceptibility to fr... ORPHA:289157
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Recurrent fractures, Splenomegaly, Primary hyperparathyroidism, Elevated circulatin... OMIM:239200
Achondrogenesis Type 1A
Femoral hernia, Recurrent fractures, Short neck, Abnormal enchondral ossification, Umbilical hernia ORPHA:93299
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... OMIM:612394
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Joint hyperflexibility, Delayed skeletal maturation, Recurrent fractures ORPHA:2324
Rin2 Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Increased susceptibility to fractures, Scoliosis,... ORPHA:217335
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
H Syndrome
Diabetes mellitus, Lipodystrophy, Recurrent fractures, Microcytic anemia, Delayed skeletal matura... ORPHA:168569
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Small for gestational age, Short neck, Multiple prenatal fractures,... OMIM:616897
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... ORPHA:166277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Scoliosis, Dentinogen... OMIM:613849
Solitary Bone Cyst
Back pain, Bone pain, Unicameral bone cyst, Abnormal form of the vertebral bodies, Pathologic fra... ORPHA:83468
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:312150
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171433
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Lysinuric Protein Intolerance
Hepatomegaly, Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Osteoporosis, Anemi... OMIM:222700
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... ORPHA:1486
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Biconcave vertebral bodies, Umbilical hernia... OMIM:617952
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... OMIM:264700
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... OMIM:277440
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Limb joint contracture, Small for gestational age, Nodular regenerative hyperplasia... ORPHA:404454
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Ty... ORPHA:436252
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:253290
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus ORPHA:3004
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... OMIM:619510
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Recurrent fractures OMIM:616833
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar... ORPHA:1822
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616867
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... OMIM:600081
Fibrous Dysplasia Of Bone
Bone pain, Thyroid carcinoma, Patchy reduction of bone mineral density, Abnormality of the cervic... ORPHA:249
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Inguinal hernia, Recurrent fractures, Ovarian cyst, Subperiostea... OMIM:618188
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... OMIM:241530
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Recurrent fractures, Multiple prenatal fractures, Absent ossification ... OMIM:166210
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... OMIM:610915
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:2909
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Inguinal hernia, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility OMIM:619115
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis, Obesity, Delayed pubert... ORPHA:251004
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Inguinal hernia, Thoracolumbar kyphoscoliosis, Craniosynostosis, Ovoid ... OMIM:252500
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc... OMIM:112240
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... OMIM:224300
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Small for gestational age, Recurrent fractures, Decreased calvarial ossification, Pla... OMIM:616229
Prader-Willi Syndrome
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... ORPHA:739
Hajdu-Cheney Syndrome
Osteopenia, Hepatomegaly, Inguinal hernia, Failure to thrive, Recurrent fractures, Short neck, Hy... ORPHA:955
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia ... ORPHA:861
Osteosarcoma
Pathologic fracture, Osteolysis, Weight loss ORPHA:668
Gaucher Disease
Osteopenia, Osteoarthritis, Bone pain, Avascular necrosis, Death in infancy, Increased bone miner... ORPHA:355
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Hepatocellular carcinoma, Osteo... ORPHA:79259
Autosomal Recessive Cutis Laxa Type 2A
Intrauterine growth retardation, Inguinal hernia, Joint hypermobility, Increased susceptibility t... ORPHA:357058
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Blue Rubber Bleb Nevus
Pathologic fracture, Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Recurrent fractures, Abnormality of ne... ORPHA:1775
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... OMIM:166200
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... OMIM:616294
Juvenile Paget Disease
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:2801
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contracture... OMIM:614008
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Joint stiffness, Avascular necrosis of ... ORPHA:581
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Abnormal... ORPHA:567
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Kyphosi... OMIM:239000
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Bone pain, Increased susceptibility to fractures, Pathologic frac... ORPHA:352540
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Joint hypermobility OMIM:619131
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Increased susceptibility to fractures ORPHA:216866
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Abnormal ... ORPHA:536471
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... ORPHA:2969
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Recurrent fractures, Kyphosis, Abnormal form of the vertebral ... ORPHA:2050
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduce... ORPHA:18
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to inju... OMIM:608654
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Beaking of vertebral bodies, Kyphosis, Delayed skeletal maturation, V... OMIM:208400
Hamamy Syndrome
Osteopenia, Hypoparathyroidism, Inguinal hernia, Recurrent fractures, Craniosynostosis, Microcyti... OMIM:611174
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Recurrent fractures ORPHA:453510
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... ORPHA:157215
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Pilonidal sinus, Parathyroid agenesis, Femoral hernia, Decrea... OMIM:188400
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Lumbosacral meningocele, In... OMIM:607330
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodular cirrhosis,... OMIM:256810
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Short neck, Cryptorchidism, Tall lumba... OMIM:102500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Lumbar hyperlordosis, Short neck, Cryptorchidism, Generalized joint laxity, Increased... ORPHA:251028
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Pl... OMIM:616507
Brittle Cornea Syndrome
Osteoporosis, Corneal scarring, Increased susceptibility to fractures, Joint hyperflexibility, He... ORPHA:90354
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... OMIM:615607
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Elevated circulating parathyro... OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... OMIM:300554
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Congenital contracture, Thymus hyperplasia OMIM:619036
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:221016
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Recurrent fractures, Thrombocytopenia, Enlarged tonsils, Leukopenia, ... ORPHA:2785
Fraser Syndrome 2
Hypoplasia of the thymus, Short neck OMIM:617666
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Inguinal hernia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Congenit... OMIM:245600
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Sacral dimple, Recurrent fractures, Camptodactyly of f... ORPHA:3206
Keppen-Lubinsky Syndrome
Failure to thrive, Lipodystrophy, Flexion contracture, Increased susceptibility to fractures, Los... ORPHA:435628
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Congenital kyphoscoliosis, Recurrent fractures, Craniosy... ORPHA:536467
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopen... ORPHA:77293
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Recurrent fractures, Delayed skeletal maturation, Elevated circul... OMIM:601812
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Pathologic fracture, Osteomyelitis ORPHA:36386
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Lymphadenopathy, Re... ORPHA:667
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Neonatal... OMIM:601186
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture OMIM:607278
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:478
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Thrombocytopenia... ORPHA:470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypoparathyroidism, Knee flexion contracture, Pathologic fracture OMIM:156400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Cryptor... OMIM:309583
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to... ORPHA:2769
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Small for gestational age, Short neck, Cryptorc... OMIM:264090
Osteoglophonic Dysplasia
Osteopenia, Inguinal hernia, Camptodactyly of finger, Craniosynostosis, Short neck, Cryptorchidis... OMIM:166250
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Flexion contracture, Multiple prenatal fractures OMIM:271225
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Increased c... ORPHA:171430
Marshall-Smith Syndrome
Omphalocele, Failure to thrive, Decreased hip abduction, Large sternal ossification centers, Recu... OMIM:602535
Monosomy 22
Aplasia of the thymus, Short neck, Hypochromic microcytic anemia, Hepatosplenomegaly, Contracture... ORPHA:96123
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Precocious puberty, Hypophosphatemic rickets OMIM:163200
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... OMIM:300009
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Failure to thrive, Wrist flexio... OMIM:609465
Eec Syndrome
Anterior hypopituitarism, Abnormal dental enamel morphology, Hypoplasia of the thymus, Decreased ... ORPHA:1896
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Death in infancy, Osteomalacia, Abnormal dental enamel morphology, Cryptorch... ORPHA:534
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... ORPHA:699
Stuve-Wiedemann Syndrome 1
Death in infancy, Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow fl... OMIM:601559
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia, Recurrent fractures, Joint hypermobility OMIM:614170
Cleidocranial Dysplasia
Abnormal dental enamel morphology, Recurrent fractures, Abnormal sacrum morphology, Osteoporosis,... ORPHA:1452
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Elbow ankylosis ORPHA:83
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:619120
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures, Intrauterine growth retardation, Vertebral compression fracture, Kyp... OMIM:618644
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Thoracic scoliosis, Recurrent fractures OMIM:606056
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Grange Syndrome
Decreased body weight, Recurrent fractures, Increased susceptibility to fractures OMIM:602531
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616866
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Scoliosis, Tracheo... ORPHA:140
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy... OMIM:271640
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Supernumerary nipple, Joint hypermobility, Six lumbar vertebrae OMIM:619122
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormality of the vertebral spinous processes, Osteoporosis, Increased susceptibilit... ORPHA:909
Classic Homocystinuria
Hepatomegaly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Hernia, Scoliosis ORPHA:394
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Accelerated skeletal maturation,... OMIM:130070
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Osteo... OMIM:307030
Menkes Disease
Inguinal hernia, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Atypical sc... ORPHA:565
Familial Dysautonomia
Abnormal peritoneum morphology, Recurrent fractures, Osteolysis, Scoliosis, Avascular necrosis ORPHA:1764
Cleidocranial Dysplasia 1
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... OMIM:119600
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Cryptorchidism, Precoc... ORPHA:636
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Cryptorchidism, Kyphosis, Rickets, Corn... OMIM:309000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Osteogenesis Imperfecta, Type Vii
Osteopenia, Death in infancy, Recurrent fractures, Multiple prenatal fractures, Decreased calvari... OMIM:610682
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... ORPHA:1652
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Kyphoscoliosis, Cryptorchidism, Kyphosis, Osteoporosis, Abnormality of the L... ORPHA:3063
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism, Pathologic fracture OMIM:614231
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Hallermann-Streiff Syndrome
Recurrent fractures, Cryptorchidism, Reduced bone mineral density, Abdominal situs inversus, Trac... ORPHA:2108
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Craniosynostosis, Joint st... ORPHA:744
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vert... OMIM:271520
Primary Fanconi Renotubular Syndrome
Osteomalacia, Bone pain, Weight loss, Increased susceptibility to fractures, Hypophosphatemic ric... ORPHA:3337
3Q29 Microdeletion Syndrome
Joint hyperflexibility, Failure to thrive, Six lumbar vertebrae ORPHA:65286
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Bone pain, Recurrent fractures ORPHA:416
Postaxial Acrofacial Dysostosis
Cryptorchidism, Radioulnar synostosis, Supernumerary nipple, Supernumerary vertebrae OMIM:263750
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... OMIM:620186
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Inguinal hernia, Hernia, Pathologic fracture, Intrauterine growth retardation ORPHA:90349
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Supernumerary nipple, Congenital diaphragmatic hernia, Accelerated... OMIM:312870
Mowat-Wilson Syndrome
Recurrent fractures, Asplenia, Cryptorchidism, Delayed skeletal maturation, Flexion contracture, ... 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)