Details of Disease | DrugMAP

General Information of Disease (ID: DIS2U14Y)

Disease Name	Guttmacher syndrome
Synonyms	autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency, postaxial polydactyly and hypospadias; preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency-postaxial polydactyly-hypospadias syndrome; Guttmacher syndrome
Definition	Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS2U14Y: Guttmacher syndrome
Disease Identifiers	MONDO ID MONDO_0008301 MESH ID C538278 UMLS CUI C1867801 OMIM ID 176305 MedGen ID 401304 Orphanet ID 2957 SNOMED CT ID 722452004

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
HOXA13	TTN26OM	Supportive	Autosomal dominant	[1]
HOXA13	TTN26OM	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXA13	OTTRI3KI	Supportive	Autosomal dominant	[1]
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References

1	A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat. 2002 May;19(5):573-4. doi: 10.1002/humu.9036.
2	Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.Am J Med Genet A. 2014 Sep;164A(9):2398-402. doi: 10.1002/ajmg.a.36648. Epub 2014 Jun 16.