Hyperostosis cranialis interna

Preferred Label : Hyperostosis cranialis interna;

Symbol : HCIN;

CISMeF acronym : HCIN;

Type : Phenotype, molecular basis known;

Description : Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 39 (zinc transporter), member-14 gene (SLC39A14, 608736.0006);

Prefixed ID : #144755;

Details

Origin ID

144755;

UMLS CUI

C1840404;

Currated CISMeF NLP mapping
- Hyperostosis cranialis interna [ORDO Disease]
- Hyperostosis cranialis interna [HPO term]
- Hyperostosis cranialis interna (disorder) [SNOMED CT concept]
- hyperostosis cranialis interna [MeSH concept]
- hyperostosis cranialis interna [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 39 (zinc transporter), member 14 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calvarial hyperostosis [HPO term]
- Chiari type I malformation [HPO term]
- Epiphora [HPO term]
- Facial palsy [HPO term]
- Hyperostosis cranialis interna [HPO term]
- Hyposmia [HPO term]
- Mastoiditis [HPO term]
- Ocular hypertension [HPO term]
- Ocular pain [HPO term]
- Optic atrophy [HPO term]
- Osteosclerosis of the base of the skull [HPO term]
- Proptosis [HPO term]
- Reduced visual acuity [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tinnitus [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Hyperostosis cranialis interna [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperostosis cranialis interna [HPO term]
- Hyperostosis cranialis interna [ORDO Disease]
- Hyperostosis cranialis interna (disorder) [SNOMED CT concept]
- hyperostosis cranialis interna [MeSH Supplementary Concept]
- hyperostosis cranialis interna [MeSH concept]

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