Details of Disease

General Information of Disease (ID: DISISMZZ)

Disease Name Acromesomelic dysplasia 2A
Synonyms
achondrogenesis, type II; achondrogenesis type II (formerly); hypochondrogenesis; Brazilian achondrogenesis; achondrogenesis, type II, formerly; achondrogenesis, Brazilian; AMDG; Grebe syndrome; Grebe chondrodysplasia; acromesomelic dysplasia, Grebe type; type II achondrogenesis; chondrodysplasia, Grebe type; GREBE chondrodysplasia; Langer-Saldino achondrogenesis; Grebe dysplasia; acromesomelic dysplasia 2A
Definition
An autosomal recessively inherited form of 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.
Disease Hierarchy
DISR3TMZ: Acromesomelic dysplasia
DISCBQB8: Achondrogenesis
DISISMZZ: Acromesomelic dysplasia 2A
Disease Identifiers
MONDO ID
MONDO_0008703
MESH ID
C537915
UMLS CUI
C0265260
OMIM ID
200700
MedGen ID
75557
Orphanet ID
2098
SNOMED CT ID
77542002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GDF5 TT37XV9 Definitive Autosomal recessive [1]
GDF5 TT37XV9 Definitive Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMPR1B OTGFN0OD Supportive Autosomal recessive [3]
GDF5 OTOV8S81 Definitive Autosomal recessive [1]
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References

1 Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. Am J Med Genet A. 2005 Nov 1;138(4):379-83. doi: 10.1002/ajmg.a.30969.
2 Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.Congenit Anom (Kyoto). 2017 Mar;57(2):45-51. doi: 10.1111/cga.12187.
3 Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16.