Details of Disease

General Information of Disease (ID: DISC5E7N)

Disease Name Acheiropody
Synonyms ACHP; acheiropody, Brazilian type; horn-Kolb syndrome; acheiropody; acheiropodia
Definition
Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DIS5M94B: Non-syndromic limb reduction defect
DISC5E7N: Acheiropody
Disease Identifiers
MONDO ID
MONDO_0008700
MESH ID
C536014
UMLS CUI
C0265559
OMIM ID
200500
MedGen ID
120547
Orphanet ID
931
SNOMED CT ID
177504007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMBR1 OTGRQK9V Strong Autosomal recessive [1]
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References

1 Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet. 2001 Jan;68(1):38-45. doi: 10.1086/316955. Epub 2000 Nov 22.