Details of Disease | DrugMAP

General Information of Disease (ID: DISXHSME)

Disease Name	Alopecia - intellectual disability syndrome
Synonyms	AMR syndrome 1; alopecia with severe intellectual deficit; alopecia intellectual disbility syndrome 1; Amr syndrome; alopecia-intellectual disability syndrome; Perniola-Krajewska-Carnevale syndrome; alopecia-mental retardation syndrome
Definition	An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISXHSME: Alopecia - intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0008756 MESH ID C536660 UMLS CUI C2931280 MedGen ID 444019 Orphanet ID 2850 SNOMED CT ID 716191002

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
AHSG	TTKF4WV	Strong	GermlineCausalMutation	[1]
ITGB6	TTKQSXZ	Strong	GermlineCausalMutation	[2]
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References

1	Association of AHSG with alopecia and mental retardation (APMR) syndrome. Hum Genet. 2017 Mar;136(3):287-296. doi: 10.1007/s00439-016-1756-5. Epub 2017 Jan 4.
2	Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.Eur J Hum Genet. 2016 Aug;24(8):1223-7. doi: 10.1038/ejhg.2015.260. Epub 2015 Dec 23.