Details of Disease | DrugMAP

General Information of Disease (ID: DISK7DUI)

Disease Name	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Synonyms	ectodermal dysplasia/short stature syndrome; ECTDS; short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome; ectodermal dysplasia-short stature syndrome
Definition	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Disease Hierarchy	DISQ205R: Hyperpigmentation of the skin DISLRS4M: Ectodermal dysplasia DISGLKBI: Focal palmoplantar keratoderma DISK7DUI: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Disease Identifiers	MONDO ID MONDO_0014460 UMLS CUI C4014987 OMIM ID 616029 MedGen ID 863424 Orphanet ID 423454 SNOMED CT ID 764995008

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
GRHL2	TTUGH4C	Limited	Biomarker	[1]
GRHL2	TTUGH4C	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRHL2	OT3LF27F	Strong	Autosomal recessive	[2]
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References

1	Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21.
2	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.