Details of Disease

General Information of Disease (ID: DISOEFO9)

Disease Name Normal pressure hydrocephalus
Synonyms hydrocephalus, normal-pressure; NPH; hydrocephalus, normal pressure, 1; chronic adult hydrocephalus; low pressure hydrocephalus
Definition
A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)
Disease Hierarchy
DIS33112: Communicating hydrocephalus
DISOEFO9: Normal pressure hydrocephalus
Disease Identifiers
MONDO ID
MONDO_0009366
MESH ID
D006850
UMLS CUI
C0020258
MedGen ID
42526
HPO ID
HP:0002343
Orphanet ID
314928
SNOMED CT ID
30753002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LAMC2 TTNS7H3 moderate Biomarker [1]
MLYCD TT9Z4YD moderate Genetic Variation [2]
ALDH3A2 TTB6UM0 Strong Biomarker [3]
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This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFAP43 OT6R8UGG Limited Autosomal dominant [4]
DNAJC13 OTYAVVJ6 moderate Biomarker [5]
NPHP1 OTZHCFFQ moderate Genetic Variation [6]
ANKS3 OTFXNRZD Strong Genetic Variation [7]
ANKS6 OT6DXD3Q Strong Biomarker [8]
CPVL OTOJL31C Strong Biomarker [9]
GLIS2 OTOUUV1X Strong Genetic Variation [10]
INVS OT8KPESR Strong Genetic Variation [11]
MAPKBP1 OTMLEJ67 Strong Genetic Variation [12]
NPHP3 OT8U8ELA Strong Genetic Variation [13]
NPHP4 OTBNOA7U Strong Genetic Variation [14]
NXPH1 OTGKX860 Strong Genetic Variation [15]
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⏷ Show the Full List of 12 DOT(s)

References

1 Predicting Cognitive Improvement in Normal Pressure Hydrocephalus Patients Using Preoperative Neuropsychological Testing and Cerebrospinal Fluid Biomarkers.Neurosurgery. 2019 Oct 1;85(4):E662-E669. doi: 10.1093/neuros/nyz102.
2 Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.Nephrol Dial Transplant. 1998 Aug;13(8):1955-7. doi: 10.1093/ndt/13.8.1955.
3 Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.Genomics. 1994 Jul 15;22(2):296-301. doi: 10.1006/geno.1994.1387.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5 Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Lken syndrome type 3.Cytogenet Genome Res. 2002;97(3-4):163-6. doi: 10.1159/000066617.
6 NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.J Am Soc Nephrol. 2018 Jun;29(6):1772-1779. doi: 10.1681/ASN.2017111200. Epub 2018 Apr 13.
7 Anks3 interacts with nephronophthisis proteins and is required for normal renal development.Kidney Int. 2015 Jun;87(6):1191-200. doi: 10.1038/ki.2015.17. Epub 2015 Feb 11.
8 Anks3 alters the sub-cellular localization of the Nek7 kinase.Biochem Biophys Res Commun. 2015 Aug 28;464(3):901-7. doi: 10.1016/j.bbrc.2015.07.063. Epub 2015 Jul 15.
9 Concurrent Alzheimer's pathology in patients with clinical normal pressure hydrocephalus.J Neurosurg Sci. 2020 Apr;64(2):130-132. doi: 10.23736/S0390-5616.18.04350-3. Epub 2018 Feb 13.
10 The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product.Eur J Hum Genet. 2016 May;24(5):774-8. doi: 10.1038/ejhg.2015.199. Epub 2015 Sep 16.
11 Nephronophthisis.Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8.
12 Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12.
13 Molecular genetics of nephronophthisis and medullary cystic kidney disease.J Am Soc Nephrol. 2000 Sep;11(9):1753-1761. doi: 10.1681/ASN.V1191753.
14 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9326.
15 Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft fr Pdiatrische Nephrologie.Pediatr Nephrol. 1998 Jan;12(1):16-9. doi: 10.1007/s004670050394.