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EDM5
MCID: EPP013
MIFTS: 46
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Epiphyseal Dysplasia, Multiple, 5 (EDM5)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:
Characteristics:Inheritance:
Epiphyseal Dysplasia, Multiple, 5:
Autosomal dominant 57
Multiple Epiphyseal Dysplasia Type 5:
Autosomal dominant 58
Prevelance:
Multiple Epiphyseal Dysplasia Type 5:
<1/1000000 (Worldwide) 58
Age Of Onset:
Multiple Epiphyseal Dysplasia Type 5:
Childhood 58
OMIM®:57 (Updated 24-Oct-2022)
Miscellaneous:
genetic heterogeneity (see edm1 ) allelic to spondyloepimetaphyseal dysplasia, matn-3 related allelic to hand osteoarthritis Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Ear diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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UniProtKB/Swiss-Prot: 73 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. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. MalaCards based summary: Epiphyseal Dysplasia, Multiple, 5, also known as edm5, is related to multiple epiphyseal dysplasia and osteochondrodysplasia, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 5 is MATN3 (Matrilin 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Extracellular matrix organization. Affiliated tissues include bone, and related phenotypes are hip dysplasia and delayed proximal femoral epiphyseal ossification GARD: 19 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. Orphanet: 58 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. Disease Ontology: 11 A multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the MATN3 gene on chromosome 2p24. |
Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:58 30 (show all 39)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:607078 (Updated 24-Oct-2022)UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:hip pain; knee pain |
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Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5 |
Organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:
MalaCards :
Bone
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Articles related to Epiphyseal Dysplasia, Multiple, 5:(show all 28)
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Genes related to Epiphyseal Dysplasia, Multiple, 5 (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:5 (show top 50) (show all 67)
UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:73 (show all 15)
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Search
GEO
for disease gene expression data for Epiphyseal Dysplasia, Multiple, 5.
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Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:
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Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:
Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:
Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:
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