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AMD2C
MCID: ACR126
MIFTS: 42
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Acromesomelic Dysplasia 2c (AMD2C)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Acromesomelic Dysplasia 2c:
Characteristics:Inheritance:
Acromesomelic Dysplasia 2c:
Autosomal recessive 57
Acromesomelic Dysplasia, Hunter-Thompson Type:
Autosomal recessive 58
Prevelance:
Acromesomelic Dysplasia, Hunter-Thompson Type:
<1/1000000 (Worldwide) 58
Age Of Onset:
Acromesomelic Dysplasia, Hunter-Thompson Type:
Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to grebe syndrome , brachydactyly, type c , fibular hypoplasia and complex brachydactyly Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases Reproductive diseases Mental diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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OMIM®: 57 Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (601875). (201250) (Updated 08-Dec-2022) MalaCards based summary: Acromesomelic Dysplasia 2c, also known as acromesomelic dysplasia, hunter-thompson type, is related to acromesomelic dysplasia 1 and acromesomelic dysplasia. An important gene associated with Acromesomelic Dysplasia 2c is GDF5 (Growth Differentiation Factor 5). Affiliated tissues include hand, foot and bone, and related phenotypes are neurological speech impairment and brachydactyly GARD: 19 A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. Orphanet: 58 A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. UniProtKB/Swiss-Prot: 73 A form of acromesomelic dysplasia, a skeletal disorder 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). AMD2C is an autosomal recessive form characterized by skeletal abnormalities restricted to the limbs. The craniofacial skeleton and axial skeletal structures are normal. Disease Ontology: 11 An acromesomelic dysplasia that has material basis in mutation in AMDH gene which results in normal axial skeleton but fused bones in the located in hand or located in foot. |
Human phenotypes related to Acromesomelic Dysplasia 2c:58 30 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:201250 (Updated 08-Dec-2022) |
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Organs/tissues related to Acromesomelic Dysplasia 2c:
MalaCards :
Bone
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Articles related to Acromesomelic Dysplasia 2c:(show all 47)
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Genes related to Acromesomelic Dysplasia 2c (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Acromesomelic Dysplasia 2c:5 (show all 42)
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Search
GEO
for disease gene expression data for Acromesomelic Dysplasia 2c.
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Biological processes related to Acromesomelic Dysplasia 2c according to GeneCards Suite gene sharing:
Molecular functions related to Acromesomelic Dysplasia 2c according to GeneCards Suite gene sharing:
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