Details of Disease

General Information of Disease (ID: DISQS0N4)

Disease Name Achondrogenesis type IA
Synonyms achondrogenesis, type 1A; Houston-Harris achondrogenesis; achondrogenesis, type IA; achondrogenesis type 1A; ACG1A; achondrogenesis, Houston-Harris type; achondrogenesis Houston-Harris type
Definition
Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
Disease Hierarchy
DISCBQB8: Achondrogenesis
DISV6ZCN: Severe spondylodysplastic dysplasia
DISQS0N4: Achondrogenesis type IA
Disease Identifiers
MONDO ID
MONDO_0008701
MESH ID
C536015
UMLS CUI
C0265273
OMIM ID
200600
MedGen ID
78546
Orphanet ID
93299
SNOMED CT ID
42725006

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
TRIP11 OT4FJEAR Definitive Autosomal recessive [1]
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References

1 Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21;362(3):206-16. doi: 10.1056/NEJMoa0900158.