Epiphyseal Dysplasia, Multiple, 3 (EDM3)

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Disease Ontology 12 DOID:0070304 OMIM 58 600969 MeSH 45 D010009

MedGen 43 C1832998 C3152083 SNOMED-CT via HPO 70 225655006 249939004 254080004 263681008 396275006 more UMLS 74 C1832998

UniProtKB/Swiss-Prot : ⁷⁶ 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 multiple epiphyseal dysplasia due to collagen 9 anomaly. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are osteoarthritis and epiphyseal dysplasia

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 : ⁵⁸ 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)

Clinical features from OMIM:

600969

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