HYDNP1
MCID: HYD071
MIFTS: 20

Hydrocephalus, Normal-Pressure, 1 (HYDNP1)

Categories: Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hydrocephalus, Normal-Pressure, 1

MalaCards integrated aliases for Hydrocephalus, Normal-Pressure, 1:

Name: Hydrocephalus, Normal-Pressure, 1 56
Hydrocephalus, Normal Pressure, 1 56
Hydnp1 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:

31
hydrocephalus, normal-pressure, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 236690
MedGen 41 C0020258

Summaries for Hydrocephalus, Normal-Pressure, 1

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 gait disturbance and bowel incontinence

Related Diseases for Hydrocephalus, Normal-Pressure, 1

Diseases in the Normal Pressure Hydrocephalus family:

Hydrocephalus, Normal-Pressure, 1

Diseases related to Hydrocephalus, Normal-Pressure, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 normal pressure hydrocephalus 9.2 PMPCA CFAP43

Symptoms & Phenotypes for Hydrocephalus, Normal-Pressure, 1

Human phenotypes related to Hydrocephalus, Normal-Pressure, 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 31 HP:0001288
2 bowel incontinence 31 HP:0002607
3 global developmental delay 31 HP:0001263
4 dementia 31 HP:0000726
5 urinary incontinence 31 HP:0000020
6 psychomotor retardation 31 HP:0025356
7 normal pressure hydrocephalus 31 HP:0002343

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

Respiratory Nasopharynx:
chronic sinusitis

Genitourinary Bladder:
urinary incontinence

Neurologic Central Nervous System:
gait instability
cognitive decline
hydrocephalus, normal pressure
enlarged ventricles on brain imaging
tightening of the sylvian fissure on brain imaging
more

Clinical features from OMIM:

236690

Drugs & Therapeutics for Hydrocephalus, Normal-Pressure, 1

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Normal-Pressure, 1

Genetic Tests for Hydrocephalus, Normal-Pressure, 1

Anatomical Context for Hydrocephalus, Normal-Pressure, 1

MalaCards organs/tissues related to Hydrocephalus, Normal-Pressure, 1:

40
Brain

Publications for Hydrocephalus, Normal-Pressure, 1

Articles related to Hydrocephalus, Normal-Pressure, 1:

# Title Authors PMID Year
1
Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. 56 6
31004071 2019
2
Familial normal pressure hydrocephalus (NPH) with an autosomal-dominant inheritance: a novel subgroup of NPH. 56
21704338 2011
3
Normal-pressure hydrocephalus: is there a genetic predisposition? 56
21320833 2011
4
Familial occurrence of idiopathic normal-pressure hydrocephalus. 56
6696655 1984

Variations for Hydrocephalus, Normal-Pressure, 1

ClinVar genetic disease variations for Hydrocephalus, Normal-Pressure, 1:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630
2 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847
3 CFAP43 CFAP43, TRP1502TERundetermined variant Pathogenic 805993

Expression for Hydrocephalus, Normal-Pressure, 1

Search GEO for disease gene expression data for Hydrocephalus, Normal-Pressure, 1.

Pathways for Hydrocephalus, Normal-Pressure, 1

GO Terms for Hydrocephalus, Normal-Pressure, 1

Sources for Hydrocephalus, Normal-Pressure, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....