Shaheen syndrome

Preferred Label : Shaheen syndrome;

Symbol : SHNS;

CISMeF acronym : SHNS;

Type : Phenotype, molecular basis known;

Description : Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the component of oligomeric Golgi complex 6 gene (COG6, 606977.0002);

Prefixed ID : #615328;

Details

Origin ID

615328;

UMLS CUI

C3809160;

Currated CISMeF NLP mapping
- Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [ORDO Disease]
False automatic mappings
- Saint Helena, Ascension and Tristan da Cunha [NCIt concept]
Genes related to phenotype
- Component of oligomeric golgi complex 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Enamel hypoplasia [HPO term]
- Hypohidrosis [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
ORDO concept(s)
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [ORDO Disease]

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