Hydrocephalus, normal-pressure, 1

Preferred Label : Hydrocephalus, normal-pressure, 1;

Symbol : HYDNP1;

CISMeF acronym : HYDNP1;

Type : Phenotype, molecular basis known;

Description : Portenoy et al. (1984) described normal-pressure hydrocephalus in a 67-year-old man and his 74-year-old sister. Both had the classic triad of gait disturbance followed by mild dementia with psychomotor retardation and urinary or fecal incontinence. The authors knew of no other familial cases. *FIELD* RF 1. Portenoy, R. K.; Berger, A.; Gross, E.: Familial occurrence of idiopathic normal-pressure hydrocephalus. Ann. Neurol. 41: 335-337, 1984. *FIELD* CS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cilia- and flagella-associated protein 43 gene (CFAP43, 617558.0012);

Prefixed ID : #236690;

Details

Origin ID

236690;

UMLS CUI

C5231392;

Currated CISMeF NLP mapping
- (Idiopathic) normal pressure hydrocephalus [ICD-10 Sub-category]
- NORMAL PRESSURE HYDROCEPHALY [WHO-ART Included Term]
- Nasopharynx [LOINC System]
- Normal pressure hydrocephalus [HPO term]
- Normal pressure hydrocephalus [MedDRA Preferred Term]
- Normal pressure hydrocephalus [ORDO Disease]
- Normal pressure hydrocephalus (disorder) [SNOMED CT concept]
- Normal pressure hydrocephaly [PASCAL descriptor]
- Normal pressure hydrocephaly [MedDRA LLT]
- Normal-pressure hydrocephalus [ICD-11 Sub-sub category]
- Normal-pressure hydrocephalus [ICD-10 Sub-category (who)]
- hydrocephalus, normal pressure [MeSH Descriptor]
- hydrocephalus, normal pressure [MeSH concept]
- normal pressure hydrocephalus [DO Concept]
- normal pressure hydrocephalus [Disease (Nov.)]
- normal pressure hydrocephalus [SNOMED Notion]
- normal-pressure hydrocephalus [Radlex concept]
DO Cross reference
- normal pressure hydrocephalus [DO Concept]
Genes related to phenotype
- Cilia- and flagella-associated protein 43 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowel incontinence [HPO term]
- Dementia [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Normal pressure hydrocephalus [HPO term]
- Psychomotor retardation [HPO term]
- Urinary incontinence [HPO term]
- Urinary or fecal incontinence [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NORMAL PRESSURE HYDROCEPHALY [WHO-ART Included Term]
- Normal pressure hydrocephalus [MedDRA Preferred Term]
- Normal pressure hydrocephalus [HPO term]
- Normal pressure hydrocephalus [ORDO Disease]
- Normal pressure hydrocephalus (disorder) [SNOMED CT concept]
- Normal pressure hydrocephaly [MedDRA LLT]
- Normal-pressure hydrocephalus [ICD-10 Sub-category (who)]
- hydrocephalus, normal pressure [MeSH Descriptor]
- hydrocephalus, normal pressure [MeSH concept]
- low pressure hydrocephalus [SNOMED Notion]
- normal pressure hydrocephalus [SNOMED Notion]
- normal pressure hydrocephalus [DO Concept]
- normal-pressure hydrocephalus [Radlex concept]

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