Chondrodysplasia, Grebe Type (AMDG)

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Disease Ontology 12 DOID:0080052 OMIM 56 200700 KEGG 36 H00466 MeSH 43 D004392 ICD10 via Orphanet 33 Q78.8

UMLS via Orphanet 72 C0265260 Orphanet 58 ORPHA2098 MedGen 41 C0265260 SNOMED-CT via HPO 68 105985007 203598005 205131007 205170001 237364002 240190009 2424003 249803006 258211005 269469005 27173008 275344002 276507005 385522000 424413001 424952003 43476002 55033002 57048009 74370006 7890003 84445001 88565003 93255008 93288001 more UMLS 71 C0265260

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.

Clinical features from OMIM:

200700

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Search GEO for disease gene expression data for Chondrodysplasia, Grebe Type.