Epiphyseal Dysplasia, Multiple, 1 malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Epiphyseal Dysplasia, Multiple, 1:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant
epiphyseal dysplasia, multiple, 1:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
UniProtKB/Swiss-Prot:67 Multiple epiphyseal dysplasia 1: 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, 1, also known as edm1, is related to multiple epiphyseal dysplasia and breast cancer, and has symptoms including abnormality of the hip bone, micromelia and arthralgia. An important gene associated with Epiphyseal Dysplasia, Multiple, 1 is COMP (Cartilage Oligomeric Matrix Protein). Affiliated tissues include bone, kidney and breast, and related mouse phenotypes are skeleton and muscle.
OMIM:49 Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis... (132400) more...
Symptoms by clinical synopsis from OMIM:132400
Clinical features from OMIM:132400
Symptoms:51 (show all 13)
HPO human phenotypes related to Epiphyseal Dysplasia, Multiple, 1:(show all 25)
Drugs for Epiphyseal Dysplasia, Multiple, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 1
MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 1:33
Bone, Kidney, Breast
UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 1:67 (show all 29)
Clinvar genetic disease variations for Epiphyseal Dysplasia, Multiple, 1:5 (show all 11)
Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 1.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet