Details of Disease | DrugMAP

General Information of Disease (ID: DISIXF16)

Disease Name	ADULT syndrome
Synonyms	acro dermato ungual lacrimal tooth syndrome; acro-dermato-ungual-lacrimal-Tooth syndrome; acrodermatounguallacrimaltooth syndrome; ADULT syndrome; acro-dermato-ungual-lacrimal-tooth syndrome; pigment anomaly-ectrodactyly-hypodontia syndrome
Definition	ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
Disease Hierarchy	DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISLRS4M: Ectodermal dysplasia DIS3HIWD: Autosomal dominant disease DISIXF16: ADULT syndrome
Disease Identifiers	MONDO ID MONDO_0007072 MESH ID C538052 UMLS CUI C1863204 OMIM ID 103285 MedGen ID 400232 Orphanet ID 978 SNOMED CT ID 720464003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPE65	TTBOH16	Definitive	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHRS3	DEXPVUN	Strong	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CKAP4	OTDUC9ME	Definitive	Genetic Variation	[1]
TP63	OT0WOOKQ	Definitive	Autosomal dominant	[3]
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References

1	Ectodermal dysplasias: the p63 tail.G Ital Dermatol Venereol. 2013 Feb;148(1):53-8.
2	The retinal dehydrogenase/reductase retSDR1/DHRS3 gene is activated by p53 and p63 but not by mutants derived from tumors or EEC/ADULT malformation syndromes.Cell Cycle. 2010 Jun 1;9(11):2177-88. doi: 10.4161/cc.9.11.11844. Epub 2010 Jun 1.
3	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.