EDM3
MCID: EPP015
MIFTS: 38
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Epiphyseal Dysplasia, Multiple, 3 (EDM3)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 3:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
genetic heterogeneity (see edm1 ) onset of symptoms in childhood with stiff, painful joints joint replacement often necessary HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Ear diseases |
UniProtKB/Swiss-Prot :
73
Multiple epiphyseal dysplasia 3: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
MalaCards based summary : Epiphyseal Dysplasia, Multiple, 3, also known as multiple epiphyseal dysplasia 3, is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, 1. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. Affiliated tissues include bone, and related phenotypes are epiphyseal dysplasia and osteoarthritis Disease Ontology : 12 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A3 gene on chromosome 20q13. OMIM : 56 Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400). (600969) |
Human phenotypes related to Epiphyseal Dysplasia, Multiple, 3:31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:600969 |
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MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 3:40
Bone
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Articles related to Epiphyseal Dysplasia, Multiple, 3:
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ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:6 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:73
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Search
GEO
for disease gene expression data for Epiphyseal Dysplasia, Multiple, 3.
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Pathways related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:
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Cellular components related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:
Biological processes related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:
Molecular functions related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:
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