EDM5
MCID: EPP013
MIFTS: 44
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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:Orphanet epidemiological data:58
multiple epiphyseal dysplasia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
genetic heterogeneity (see edm1 ) allelic to spondyloepimetaphyseal dysplasia, matn-3 related allelic to hand osteoarthritis HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Ear diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Multiple epiphyseal dysplasia 5: 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 dwarfism, 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 Focal Adhesion. Affiliated tissues include bone, and related phenotypes are epiphyseal dysplasia and osteoarthritis Disease Ontology : 12 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 31 (show all 21)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:607078UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:hip pain, knee pain |
Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5 |
MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:40
Bone
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Articles related to Epiphyseal Dysplasia, Multiple, 5:
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ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:6 (show top 50) (show all 63)
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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