Details of Disease | DrugMAP

General Information of Disease (ID: DISLUZV7)

Disease Name	Acromesomelic dysplasia 2C, Hunter-Thompson type
Synonyms	acromesomelic dysplasia Hunter Thompson type; AMDH; acromesomelic dysplasia 2C, Hunter-Thompson type; acromesomelic dysplasia, Hunter-Thompson type; acromesomelic dwarfism
Definition	Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of 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.
Disease Hierarchy	DISR3TMZ: Acromesomelic dysplasia DISLUZV7: Acromesomelic dysplasia 2C, Hunter-Thompson type
Disease Identifiers	MONDO ID MONDO_0008717 MESH ID C535658 UMLS CUI C2930970 OMIM ID 201250 MedGen ID 419681 Orphanet ID 968 SNOMED CT ID 389167007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GDF5	TT37XV9	Disputed	Genetic Variation	[1]
GDF5	TT37XV9	Definitive	Autosomal recessive	[2]
NPR2	TTNB7IF	Definitive	Genetic Variation	[3]
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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	Limited	Genetic Variation	[4]
GDF5	OTOV8S81	Definitive	Autosomal recessive	[2]
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References

1	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.
2	A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum Genet. 1989 Mar;81(4):323-8. doi: 10.1007/BF00283684.
3	Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.Eur J Med Genet. 2019 Sep;62(9):103554. doi: 10.1016/j.ejmg.2018.10.006. Epub 2018 Oct 22.
4	Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26.