Details of Disease

General Information of Disease (ID: DISLO9AA)

Disease Name Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Synonyms ectodermal dysplasia, hypohidrotic; ectodermal dysplasia, anhidrotic; ECTD11B; ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Disease Hierarchy
DISGAO5V: Autosomal recessive hypohidrotic ectodermal dysplasia
DISLO9AA: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0013983
UMLS CUI
C3539920
OMIM ID
614941
MedGen ID
761671

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
GJB6 TTAU8SJ Strong Genetic Variation [1]
TRAF6 TTCDR6M 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
EDARADD OT0G52MC Strong Autosomal recessive [3]
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References

1 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1362-5. doi: 10.1111/jdv.13600. Epub 2016 May 3.
2 Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia.Br J Dermatol. 2013 Mar;168(3):629-33. doi: 10.1111/bjd.12018. Epub 2012 Dec 13.
3 Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001 Dec 20-27;414(6866):913-6. doi: 10.1038/414913a.