AMDG
MCID: CHN057
MIFTS: 46
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Chondrodysplasia, Grebe Type (AMDG)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chondrodysplasia, Grebe Type:
Characteristics:Orphanet epidemiological data:58
acromesomelic dysplasia, grebe type
Inheritance: Autosomal recessive; Age of onset: Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
stillborn or death in infancy heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures increased frequency in the state of bahia, brazil allelic to acromesomelic dysplasia, hunter-thompson type , brachydactyly, type c , and fibular hypoplasia nd complex brachydactyly HPO:31
chondrodysplasia, grebe type:
Clinical modifier death in infancy stillbirth Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2098 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. Visit the Orphanet disease page for more resources.
MalaCards based summary : Chondrodysplasia, Grebe Type, also known as acromesomelic dysplasia, grebe type, is related to acromesomelic dysplasia, maroteaux type and acromesomelic dysplasia, hunter-thompson type. An important gene associated with Chondrodysplasia, Grebe Type is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are TGF-beta signaling pathway and ERK Signaling. Affiliated tissues include bone and skin, and related phenotypes are skeletal dysplasia and bowing of the long bones Disease Ontology : 12 An acromesomelic dysplasia that has material basis in mutation in CDMP-1 which results in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. OMIM : 56 Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997). (200700) KEGG : 36 Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers. Homozygous mutations in GDF5 are the cause of the disease. UniProtKB/Swiss-Prot : 73 Acromesomelic chondrodysplasia, Grebe type: An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. |
Human phenotypes related to Chondrodysplasia, Grebe Type:58 31 (show all 30)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:200700MGI Mouse Phenotypes related to Chondrodysplasia, Grebe Type:45
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MalaCards organs/tissues related to Chondrodysplasia, Grebe Type:40
Bone,
Skin
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Articles related to Chondrodysplasia, Grebe Type:(show all 14)
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ClinVar genetic disease variations for Chondrodysplasia, Grebe Type:6 (show all 43)
UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia, Grebe Type:73
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Search
GEO
for disease gene expression data for Chondrodysplasia, Grebe Type.
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Pathways related to Chondrodysplasia, Grebe Type according to KEGG:36
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Cellular components related to Chondrodysplasia, Grebe Type according to GeneCards Suite gene sharing:
Biological processes related to Chondrodysplasia, Grebe Type according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Chondrodysplasia, Grebe Type according to GeneCards Suite gene sharing:
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