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	normal pressure hydrocephalus

Disease ID	787
Disease	normal 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)
Synonym	hakim syndrome hakim syndromes hakim's syndrome hakim's syndromes hakims syndrome hydrocephalus normal nph pressure hydrocephalus normal pressure hydrocephalus pressure normal hydrocephalus, normal pressure hydrocephalus, normal pressure [disease/finding] hydrocephalus, normal-pressure low pressure hydrocephalus low pressure hydrocephalus (disorder) normal pressure hydrocephalus (disorder) normal pressure hydrocephalus (nph) normal pressure hydrocephalus nos normal pressure hydrocephaly normal-pressure hydrocephalus nph nph (normal pressure hydrocephalus) nph - normal pressure hydrocephalus nphs (normal pressure hydrocephalus) syndrome, hakim syndrome, hakim's syndromes, hakim syndromes, hakim's
Orphanet	ORPHANET:314928
OMIM	OMIM:236690
DOID	DOID:1572
UMLS	C0020258
MeSH	D006850
SNOMED-CT	SNOMEDCT_US_2016_09_01:30753002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0002395 \| alzheimer disease \| 2 C0497327 \| dementia \| 2 C0002395 \| alzheimer's disease \| 2 C0752347 \| dementia with lewy bodies \| 1 C0003873 \| rheumatoid arthritis \| 1 C0917996 \| cerebral aneurysm \| 1 C0020255 \| hydrocephalus \| 1 C0085220 \| cerebral amyloid angiopathy \| 1 C0524851 \| neurodegenerative disorders \| 1 C0017601 \| glaucoma \| 1 C0003864 \| arthritis \| 1 C0338451 \| frontotemporal dementia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 135 \| ADORA2A \| 2.054 \| DISEASES 347 \| APOD \| 1.557 \| DISEASES 361 \| AQP4 \| 1.689 \| DISEASES 8289 \| ARID1A \| 2.58 \| DISEASES 427 \| ASAH1 \| 2.692 \| DISEASES 551 \| AVP \| 1.442 \| DISEASES 1270 \| CNTF \| 1.056 \| DISEASES 27297 \| CRCP \| 3.918 \| DISEASES 9244 \| CRLF1 \| 1.437 \| DISEASES 1471 \| CST3 \| 1.008 \| DISEASES 79947 \| DHDDS \| 2.703 \| DISEASES 127602 \| DNAH14 \| 3.873 \| DISEASES 1875 \| E2F5 \| 1.987 \| DISEASES 5394 \| EXOSC10 \| 1.442 \| DISEASES 346007 \| EYS \| 2.144 \| DISEASES 55691 \| FRMD4A \| 2.953 \| DISEASES 5349 \| FXYD3 \| 2.208 \| DISEASES 53827 \| FXYD5 \| 2.391 \| DISEASES 2643 \| GCH1 \| 1.11 \| DISEASES 2741 \| GLRA1 \| 2.302 \| DISEASES 3363 \| HTR7 \| 1.083 \| DISEASES 8517 \| IKBKG \| 1.008 \| DISEASES 3586 \| IL10 \| 1.341 \| DISEASES 112744 \| IL17F \| 1.896 \| DISEASES 50616 \| IL22 \| 2.1 \| DISEASES 386653 \| IL31 \| 2.398 \| DISEASES 90865 \| IL33 \| 1.628 \| DISEASES 3664 \| IRF6 \| 1.721 \| DISEASES 11202 \| KLK8 \| 1.705 \| DISEASES 3897 \| L1CAM \| 1.601 \| DISEASES 81562 \| LMAN2L \| 2.625 \| DISEASES 4137 \| MAPT \| 3.136 \| DISEASES 4155 \| MBP \| 1.876 \| DISEASES 57380 \| MRS2 \| 1.935 \| DISEASES 594857 \| NPS \| 2.48 \| DISEASES 27445 \| PCLO \| 1.748 \| DISEASES 5549 \| PRELP \| 3.38 \| DISEASES 5663 \| PSEN1 \| 2.013 \| DISEASES 5730 \| PTGDS \| 3.353 \| DISEASES 5697 \| PYY \| 1.702 \| DISEASES 113675 \| SDSL \| 1.761 \| DISEASES 12 \| SERPINA3 \| 3.058 \| DISEASES 51460 \| SFMBT1 \| 4.081 \| DISEASES 653509 \| SFTPA1 \| 1.925 \| DISEASES 729238 \| SFTPA2 \| 1.719 \| DISEASES 9152 \| SLC6A5 \| 2.337 \| DISEASES 23583 \| SMUG1 \| 1.642 \| DISEASES 9751 \| SNPH \| 4.091 \| DISEASES 6656 \| SOX1 \| 1.826 \| DISEASES 23013 \| SPEN \| 1.397 \| DISEASES 63826 \| SRR \| 1.493 \| DISEASES 7018 \| TF \| 1.028 \| DISEASES 7042 \| TGFB2 \| 1.485 \| DISEASES 8794 \| TNFRSF10C \| 1.907 \| DISEASES 54209 \| TREM2 \| 1.278 \| DISEASES 7432 \| VIP \| 2.07 \| DISEASES 5212 \| VIT \| 2.845 \| DISEASES 2547 \| XRCC6 \| 1.016 \| DISEASES
Locus	(Waiting for update.)

Disease ID	787
Disease	normal pressure hydrocephalus
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0002607 \| Anal incontinence HP:0001263 \| Developmental retardation HP:0001288 \| Gait disturbance HP:0002343 \| Normal-pressure hydrocephalus HP:0000726 \| Dementia HP:0000020 \| Bladder incontinence
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0001288 \| Gait disturbance \| 6 HP:0000020 \| Bladder incontinence \| 2 HP:0000726 \| Dementia \| 2 HP:0002511 \| Late-onset form of familial Alzheimer disease \| 2 HP:0000501 \| Glaucoma \| 1 HP:0002315 \| Headaches \| 1 HP:0011970 \| Cerebral amyloid angiopathy \| 1 HP:0002145 \| Frontotemporal dementia \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0001337 \| Tremor \| 1 HP:0000713 \| Agitation \| 1 HP:0100309 \| Subdural hemorrhage \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0001370 \| Rheumatoid arthritis \| 1

Disease ID	787
Disease	normal pressure hydrocephalus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C2712331 \| urinary incontinence C1550639 \| fistula C0871189 \| psychotic symptoms C0575081 \| gait disturbances C0575081 \| gait disturbance C0575081 \| gait disorder C0497327 \| dementia C0436596 \| apathy C0264733 \| ventricular dilatation C0242422 \| parkinsonism C0234133 \| extrapyramidal signs C0233401 \| psychiatric symptoms C0233397 \| psychological symptoms C0221163 \| motor disorder C0029166 \| oral manifestations C0027809 \| neurinoma C0020179 \| huntington's chorea C0011849 \| diabetes mellitus C0009451 \| communicating hydrocephalus C0007459 \| neurogenic bladder
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0575081 \| gait disturbance \| 5 C0042024 \| urinary incontinence \| 2 C0575081 \| gait disorder \| 2 C0497327 \| dementia \| 1 C0871189 \| psychotic symptoms \| 1 C0233401 \| psychiatric symptoms \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000020	Urinary incontinence	MP:0003280	urinary incontinence	inability to control the urinary bladder excretory functions leading to involuntary urination
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis

Mapped by homologous gene(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000020	Urinary incontinence	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000726	Dementia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001288	Gait disturbance	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002343	Normal pressure hydrocephalus	MP:0013787	photophobia	abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e
HP:0002607	Bowel incontinence	MP:0013438	dysmyelination	reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin

Disease ID	787
Disease	normal pressure hydrocephalus
Case	(Waiting for update.)

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