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MCDS
MCID: MTP025
MIFTS: 50
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Metaphyseal Chondrodysplasia, Schmid Type (MCDS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Schmid Type:
Characteristics:Orphanet epidemiological data:58
metaphyseal chondrodysplasia, schmid type
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
waddling gait, often presenting sign in second year leg pain during childhood hand involvement improves with age spinal involvement improves with age HPO:31GeneReviews:24
Penetrance Penetrance approaches 100%; however, there is wide inter- and intrafamilial phenotypic variation. males and females are equally represented in the case literature. normal stature has been reported, but radiographic features are usually still present. age-dependent phenotypic manifestations are suggested by apparent reduction in hand and spine features with age [savarirayan et al 2000, elliott et al 2005].
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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NIH Rare Diseases :
52
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis , leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets . MCDS is caused by a mutation in one of the collagen genes known as COL10A1 . The mutation may be inherited from a parent or may happen for the first time in an affected individual. The MCDS mutation is passed on in an autosomal dominant manner. Treatment may include physical therapy and/or orthopedic surgery and often requires a team of specialists. Early intervention is important to help children with MCDS reach their potential.
MalaCards based summary : Metaphyseal Chondrodysplasia, Schmid Type, also known as metaphyseal chondrodysplasia schmid type, is related to corneal dystrophy, subepithelial mucinous and corneal dystrophy, meesmann, 1. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Viral mRNA Translation and RNA Polymerase II Transcription Termination. Affiliated tissues include bone, liver and brain, and related phenotypes are abnormality of the metaphysis and genu varum Disease Ontology : 12 A metaphyseal dysplasia that results in dwarfism and bowed legs. OMIM : 56 Schmid-type metaphyseal chondrodysplasia is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by Makitie et al., 2005). (156500) UniProtKB/Swiss-Prot : 73 Schmid type metaphyseal chondrodysplasia: Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end- plate irregularity. Wikipedia : 74 Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of... more...
GeneReviews:
NBK547823
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Human phenotypes related to Metaphyseal Chondrodysplasia, Schmid Type:58 31 (show all 30)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:156500 |
Interventional clinical trials:
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MalaCards organs/tissues related to Metaphyseal Chondrodysplasia, Schmid Type:40
Bone,
Liver,
Brain,
Breast,
Cortex,
Testes,
Bone Marrow
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Articles related to Metaphyseal Chondrodysplasia, Schmid Type:(show top 50) (show all 320)
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Genes related to Metaphyseal Chondrodysplasia, Schmid Type (1 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:6 (show all 26)
UniProtKB/Swiss-Prot genetic disease variations for Metaphyseal Chondrodysplasia, Schmid Type:73 (show all 18)
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Pathways related to Metaphyseal Chondrodysplasia, Schmid Type according to GeneCards Suite gene sharing:
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