Details of Disease

General Information of Disease (ID: DISXBBN3)

Disease Name Tooth and nail syndrome
Synonyms
tooth-and-nail syndrome; nail dysplasia with hypodontia; TNS; dysplasia of nails with hypodontia; ectodermal dysplasia 3, Tooth/nail type; WITKOP syndrome; hypodontia-dysplasia of nails syndrome; hypodontia - dysplasia of nails; ectodermal dysplasia 3, Witkop type; hypoplastic enamel-onycholysis-hypohidrosis syndrome; hypodontia with nail dysplasia; HND; tooth and nail syndrome; hypodontia-nail dysgenesis syndrome; hypodontia-nail dysplasia; Witkop syndrome; Witkop's syndrome; hypodontia and nail dysplasia
Definition Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DISXBBN3: Tooth and nail syndrome
Disease Identifiers
MONDO ID
MONDO_0008582
MESH ID
C536736
UMLS CUI
C0406735
OMIM ID
189500
MedGen ID
140809
Orphanet ID
2228
SNOMED CT ID
400036004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MSX1 OT5U41ZP Supportive Autosomal dominant [1]
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References

1 A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001 Jul;69(1):67-74. doi: 10.1086/321271. Epub 2001 May 16.