HYDNP1
MCID: HYD071
MIFTS: 20
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Hydrocephalus, Normal-Pressure, 1 (HYDNP1)
Categories:
Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases
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MalaCards integrated aliases for Hydrocephalus, Normal-Pressure, 1:
Name: Hydrocephalus, Normal-Pressure, 1
56
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
late adult onset infertility may be present shunting of csf offers symptomatic improvement one japanese family with a confirmed mutation in the cfap43 gene has been reported (last curated january 2020) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Neuronal diseases Nephrological diseases Mental diseases |
OMIM :
56
Normal-pressure hydrocephalus-1 (HYDNP1) is an autosomal dominant neurologic disorder characterized by the clinical triad of slowly progressive gait instability, urinary incontinence, and cognitive decline associated with ventricular enlargement on brain imaging with normal pressure of the cerebrospinal fluid (CSF). The onset of symptoms is usually in late adulthood; the symptoms are responsive to shunting. The disorder has been associated with recurrent respiratory infections and possible infertility issues, but the latter has not been confirmed (summary by Takahashi et al., 2011 and Morimoto et al., 2019). (236690)
MalaCards based summary : Hydrocephalus, Normal-Pressure, 1, also known as hydrocephalus, normal pressure, 1, is related to normal pressure hydrocephalus. An important gene associated with Hydrocephalus, Normal-Pressure, 1 is CFAP43 (Cilia And Flagella Associated Protein 43). Affiliated tissues include brain, and related phenotypes are global developmental delay and gait disturbance UniProtKB/Swiss-Prot : 73 Hydrocephalus, normal pressure, 1: An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. |
Diseases in the Normal Pressure Hydrocephalus family:
Diseases related to Hydrocephalus, Normal-Pressure, 1 via text searches within MalaCards or GeneCards Suite gene sharing:(showing 1, show less)
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Human phenotypes related to Hydrocephalus, Normal-Pressure, 1:31 (showing 7, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:236690 |
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MalaCards organs/tissues related to Hydrocephalus, Normal-Pressure, 1:40
Brain
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Articles related to Hydrocephalus, Normal-Pressure, 1:(showing 4, show less)
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ClinVar genetic disease variations for Hydrocephalus, Normal-Pressure, 1:6 (showing 3, show less)
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Search
GEO
for disease gene expression data for Hydrocephalus, Normal-Pressure, 1.
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