Chondrodysplasia, Grebe Type

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OMIM 57 200700 Disease Ontology 12 DOID:0080052 Orphanet 59 ORPHA2098 ICD10 via Orphanet 34 Q78.8 UMLS via Orphanet 74 C0265260

MedGen 42 C0265260 MeSH 44 D004392 KEGG 37 H00466 SNOMED-CT via HPO 69 258211005 43476002 205131007 203598005 385522000 55033002 57048009 7890003 88565003 84445001 105985007 240190009 74370006 205170001 93288001 93255008 237364002 276507005 249803006 275344002 27173008 2424003 269469005 424413001 424952003 more UMLS 73 C0265260

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2098Disease definitionAcromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) 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 (see these terms), 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, hunter-thompson type and acromesomelic dysplasia. 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 Hippo signaling pathway. Affiliated tissues include bone and skin, and related phenotypes are skeletal dysplasia and bowing of the long bones

OMIM : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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.

Clinical features from OMIM:

200700

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia, Grebe Type

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