eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	idiopathic intracranial hypertension

Disease ID	271
Disease	idiopathic intracranial hypertension
Definition	A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS).
Synonym	benign hypertension intracranial benign intracran. hypt. benign intracranial hyperten. benign intracranial hypertension benign intracranial hypertension (disorder) benign intracranial hypertensn bih - benign intracranial hypertension cerebri pseudotumor hydrops, meningeal hypertension, benign intracranial hypertension, idiopathic intracranial hypertension, intracranial benign iih - idiopathic intracranial hypertension intracranial hypertension, benign intracranial hypertension, idiopathic noninfective serous meningitis nonne's syndrome otitic hydrocephalus syndrome pseudotumor cerebri pseudotumor cerebri pseudotumor cerebri [disease/finding] pseudotumor cerebri benign intracranial hypertension pseudotumour cerebri reduced csf absorption syndrome syndrome pseudotumor cerebri
Orphanet	ORPHANET:238624
OMIM	OMIM:243200
DOID	DOID:11459
ICD10	ICD10CM:G93.2
UMLS	C0033845
MeSH	D011559
SNOMED-CT	SNOMEDCT_US_2016_09_01:68267002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:41) C0033845 \| idiopathic intracranial hypertension \| 15 C0030353 \| papilledema \| 15 C0033845 \| benign intracranial hypertension \| 6 C0028754 \| obesity \| 3 C0037315 \| sleep apnea \| 2 C0151740 \| increased intracranial pressure \| 2 C0001403 \| addison's disease \| 2 C0154733 \| multiple cranial nerve palsies \| 2 C0032460 \| polycystic ovary syndrome \| 1 C0520679 \| obstructive sleep apnea \| 1 C0238111 \| lennox-gastaut syndrome \| 1 C0012569 \| diplopia \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0152112 \| foster kennedy syndrome \| 1 C0018784 \| sensorineural hearing loss \| 1 C0029132 \| optic neuropathy \| 1 C0268450 \| gitelman syndrome \| 1 C0013720 \| ehlers-danlos syndrome \| 1 C0010674 \| cystic fibrosis \| 1 C0002895 \| sickle cell disease \| 1 C0456909 \| blindness \| 1 C0679466 \| cognitive deficits \| 1 C0007133 \| papillary carcinoma \| 1 C0020538 \| hypertension \| 1 C0524812 \| intracranial hypotension \| 1 C0149931 \| migraine \| 1 C0456909 \| vision loss \| 1 C0409974 \| lupus erythematosus \| 1 C0023487 \| acute promyelocytic leukemia \| 1 C0238463 \| thyroid papillary carcinoma \| 1 C0032460 \| polycystic ovarian syndrome \| 1 C0042580 \| vesicoureteral reflux \| 1 C0028756 \| morbid obesity \| 1 C0004134 \| ataxia \| 1 C0008049 \| varicella infection \| 1 C0008049 \| varicella \| 1 C0151740 \| raised intracranial pressure \| 1 C0041948 \| uremia \| 1 C0030353 \| papilloedema \| 1 C0442874 \| neuropathy \| 1 C0010273 \| crouzon syndrome \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:39) 29929 \| ALG6 \| 2.854 \| DISEASES 361 \| AQP4 \| 3.009 \| DISEASES 551 \| AVP \| 1.635 \| DISEASES 6354 \| CCL7 \| 1.189 \| DISEASES 6355 \| CCL8 \| 1.72 \| DISEASES 1114 \| CHGB \| 1.893 \| DISEASES 1123 \| CHN1 \| 1.608 \| DISEASES 163882 \| CNST \| 2.574 \| DISEASES 9244 \| CRLF1 \| 2.498 \| DISEASES 51428 \| DDX41 \| 1.143 \| DISEASES 1832 \| DSP \| 1.238 \| DISEASES 2152 \| F3 \| 2.347 \| DISEASES 2153 \| F5 \| 1.389 \| DISEASES 26190 \| FBXW2 \| 2.002 \| DISEASES 5349 \| FXYD3 \| 2.311 \| DISEASES 2592 \| GALT \| 1.9 \| DISEASES 2813 \| GP2 \| 1.65 \| DISEASES 3240 \| HP \| 2.135 \| DISEASES 3664 \| IRF6 \| 3.761 \| DISEASES 102723508 \| KANTR \| 2.711 \| DISEASES 4524 \| MTHFR \| 2.557 \| DISEASES 344022 \| NOTO \| 2.239 \| DISEASES 94233 \| OPN4 \| 1.875 \| DISEASES 27445 \| PCLO \| 3.399 \| DISEASES 5108 \| PCM1 \| 2.757 \| DISEASES 84106 \| PRAM1 \| 1.511 \| DISEASES 5549 \| PRELP \| 2.527 \| DISEASES 374308 \| PTCHD3 \| 1.878 \| DISEASES 5730 \| PTGDS \| 2.432 \| DISEASES 4920 \| ROR2 \| 2.382 \| DISEASES 462 \| SERPINC1 \| 1.648 \| DISEASES 653509 \| SFTPA1 \| 2.029 \| DISEASES 729238 \| SFTPA2 \| 1.823 \| DISEASES 6559 \| SLC12A3 \| 2.636 \| DISEASES 6708 \| SPTA1 \| 1.328 \| DISEASES 6752 \| SSTR2 \| 1.186 \| DISEASES 7018 \| TF \| 1.551 \| DISEASES 9652 \| TTC37 \| 2.375 \| DISEASES 8266 \| UBL4A \| 1.259 \| DISEASES
Locus	(Waiting for update.)

Disease ID	271
Disease	idiopathic intracranial hypertension
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0000822 \| Hypertension HP:0002516 \| Intracranial pressure elevation HP:0001085 \| Papilledema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:39) HP:0001085 \| Papilledema \| 16 HP:0002315 \| Headaches \| 13 HP:0000572 \| Visual loss \| 6 HP:0001513 \| Obesity \| 3 HP:0002516 \| Intracranial pressure elevation \| 2 HP:0008207 \| Addison's disease \| 2 HP:0001824 \| Weight loss \| 2 HP:0002013 \| Emesis \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0006824 \| Cranial nerve palsy \| 2 HP:0010535 \| Sleep apnea \| 2 HP:0002018 \| Nausea \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001251 \| Ataxia \| 1 HP:0000822 \| Hypertension \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0012533 \| Allodynia \| 1 HP:0000538 \| Pseudopapilledema \| 1 HP:0002326 \| TIA \| 1 HP:0008629 \| Pulsatile tinnitus \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0002690 \| Hyperplasia of sella turcica \| 1 HP:0000651 \| Diplopia \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0002321 \| Vertigo \| 1 HP:0000529 \| Slowly progressive visual loss \| 1 HP:0004836 \| Acute promyelocytic leukemia \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0000360 \| Ringing in the ears \| 1 HP:0000969 \| Dropsy \| 1 HP:0002017 \| Nausea and vomiting \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0000076 \| Vesicoureteric reflux \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0000618 \| Blindness \| 1 HP:0007099 \| Arnold Chiari type I malformation \| 1 HP:0012641 \| Decreased intracranial pressure \| 1

Disease ID	271
Disease	idiopathic intracranial hypertension
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C2632116 \| stenosis C2364324 \| increased intracranial pressure C2096315 \| headache C1963179 \| nausea C1847523 \| abducens palsy C1735375 \| progressive optic neuropathy C1527311 \| brain oedema C0751559 \| pulsatile tinnitus C0751401 \| ophthalmoparesis C0730512 \| functional visual loss C0422833 \| ent symptoms C0233401 \| psychiatric symptoms C0155288 \| papilloedema C0155288 \| papilledema C0151740 \| elevated intracranial pressure C0151311 \| cranial nerve palsies C0040053 \| thrombosis C0036454 \| visual field loss C0036454 \| visual field defects C0018681 \| headaches
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0030353 \| papilledema \| 16 C0018681 \| headache \| 8 C0009814 \| stenosis \| 2 C0151740 \| increased intracranial pressure \| 2 C0018681 \| headaches \| 1 C0030353 \| papilloedema \| 1 C1735375 \| progressive optic neuropathy \| 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000822	Hypertension	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0002516	Increased intracranial pressure	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001085	Papilledema	MP:0013640	increased bone stiffness	increase in material stiffness (N/mm) during elastic deformation

Disease ID	271
Disease	idiopathic intracranial hypertension
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter