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	ovarian hyperstimulation syndrome

Disease ID	154
Disease	ovarian hyperstimulation syndrome
Definition	A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Synonym	hyperstimulation syndrome, ovarian hyperstimulation syndromes, ovarian ohss ovarian hyperstimulation syndrome (disorder) ovarian hyperstimulation syndrome [disease/finding] ovarian hyperstimulation syndromes secondary meig's syndrome
Orphanet	ORPHANET:64739
OMIM	OMIM:608115
DOID	DOID:5425
UMLS	C0085083
MeSH	D016471
SNOMED-CT	SNOMEDCT_US_2016_09_01:129635004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0032460 \| polycystic ovary \| 8 C0032460 \| polycystic ovary syndrome \| 7 C0040053 \| thrombosis \| 4 C0021359 \| infertile \| 2 C0398623 \| hypercoagulability \| 2 C0020676 \| hypothyroidism \| 2 C0149931 \| migraine \| 1 C0035222 \| acute respiratory distress syndrome \| 1 C0849777 \| cystic ovaries \| 1 C0032460 \| polycystic ovaries \| 1 C0029927 \| ovarian cyst \| 1 C0032460 \| polycystic ovarian syndrome \| 1 C0021053 \| immune disorders \| 1 C0001430 \| adenoma \| 1 C0032000 \| pituitary adenomas \| 1 C1704437 \| respiratory distress syndrome \| 1 C0041182 \| trophoblastic tumor \| 1 C0021053 \| immune disorder \| 1 C0032000 \| pituitary adenoma \| 1 C0031154 \| peritonitis \| 1 C0042974 \| von willebrand's disease \| 1 C0020538 \| hypertension \| 1 C1135868 \| gestational trophoblastic tumor \| 1 C0013295 \| duodenal ulcer \| 1 C0032285 \| pneumonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2492 \| FSHR \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 9210 \| BMP15 \| CIPHER 1583 \| CYP11A1 \| CIPHER 2153 \| F5 \| CIPHER 2492 \| FSHR \| CIPHER;CTD_human 3973 \| LHCGR \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:46) 283 \| ANG \| 2.625 \| DISEASES 284 \| ANGPT1 \| 2.123 \| DISEASES 551 \| AVP \| 2.559 \| DISEASES 778 \| CACNA1F \| 1.069 \| DISEASES 988 \| CDC5L \| 1.895 \| DISEASES 1003 \| CDH5 \| 3.53 \| DISEASES 7122 \| CLDN5 \| 3.394 \| DISEASES 1269 \| CNR2 \| 3.996 \| DISEASES 168002 \| DACT2 \| 3.186 \| DISEASES 1755 \| DMBT1 \| 1.099 \| DISEASES 11266 \| DUSP12 \| 1.232 \| DISEASES 1906 \| EDN1 \| 1.706 \| DISEASES 2152 \| F3 \| 1.208 \| DISEASES 646480 \| FABP9 \| 1.809 \| DISEASES 2492 \| FSHR \| 5.416 \| DISEASES 2512 \| FTL \| 1.006 \| DISEASES 10243 \| GPHN \| 1.272 \| DISEASES 105375013 \| HCG20 \| 4.515 \| DISEASES 54435 \| HCG4 \| 3.614 \| DISEASES 3814 \| KISS1 \| 2.854 \| DISEASES 9622 \| KLK4 \| 1.879 \| DISEASES 1902 \| LPAR1 \| 1.033 \| DISEASES 9170 \| LPAR2 \| 1.363 \| DISEASES 23566 \| LPAR3 \| 1.447 \| DISEASES 57708 \| MIER1 \| 1.584 \| DISEASES 83881 \| MIXL1 \| 1.062 \| DISEASES 4485 \| MST1 \| 1.417 \| DISEASES 4524 \| MTHFR \| 1.736 \| DISEASES 100506658 \| OCLN \| 1.866 \| DISEASES 4860 \| PNP \| 3.81 \| DISEASES 51334 \| PRR16 \| 1.601 \| DISEASES 6005 \| RHAG \| 1.499 \| DISEASES 462 \| SERPINC1 \| 2.386 \| DISEASES 5345 \| SERPINF2 \| 1.915 \| DISEASES 6462 \| SHBG \| 1.806 \| DISEASES 9353 \| SLIT2 \| 1.07 \| DISEASES 26768 \| SNORA73B \| 2.347 \| DISEASES 80320 \| SP6 \| 1.012 \| DISEASES 503542 \| SPRN \| 2.425 \| DISEASES 10253 \| SPRY2 \| 1.461 \| DISEASES 7010 \| TEK \| 1.019 \| DISEASES 284486 \| THEM5 \| 1.477 \| DISEASES 7124 \| TNF \| 1.64 \| DISEASES 11074 \| TRIM31 \| 1.773 \| DISEASES 7225 \| TRPC6 \| 1.574 \| DISEASES 7422 \| VEGFA \| 4.777 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) FSHR \| 2p16.3

Disease ID	154
Disease	ovarian hyperstimulation syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:18) HP:0008675 \| Enlarged polycystic ovaries HP:0003270 \| Abdominal distention HP:0002018 \| Nausea HP:0002202 \| Pleural effusion HP:0030088 \| Increased serum testosterone level HP:0012398 \| Peripheral edema HP:0012886 \| Hemorrhagic ovarian cyst HP:0000138 \| Ovarian cyst HP:0011106 \| Hypovolemia HP:0000119 \| Genitourinary abnormality HP:0001007 \| Hirsutism HP:0002027 \| Abdominal pain HP:0000837 \| Increased circulating gonadotropin level HP:0002017 \| Nausea and vomiting HP:0007430 \| Generalized edema HP:0100598 \| Pulmonary edema HP:0030005 \| Capillary leak HP:0001541 \| Ascites
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:22) HP:0000147 \| Sclerocystic ovaries \| 9 HP:0001541 \| Ascites \| 6 HP:0002202 \| Pleural effusion \| 4 HP:0001907 \| Thromboembolic disease \| 2 HP:0002098 \| Respiratory distress \| 2 HP:0002664 \| Neoplasia \| 2 HP:0000821 \| Underactive thyroid \| 2 HP:0000138 \| Ovarian cyst \| 2 HP:0100724 \| Hypercoagulability \| 2 HP:0005305 \| Cerebral vein thrombosis \| 1 HP:0000822 \| Hypertension \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0100520 \| Oliguria \| 1 HP:0003270 \| Distended abdomen \| 1 HP:0002588 \| Duodenal ulcer \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0003764 \| Naevus \| 1 HP:0002586 \| Peritonitis \| 1 HP:0004420 \| Arterial thrombosis \| 1 HP:0004313 \| Decreased immunoglobulin level \| 1

Disease ID	154
Disease	ovarian hyperstimulation syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C2364377 \| delirium C2073625 \| pleural effusion C1535535 \| pleurisy C0948008 \| ischaemic stroke C0740401 \| perforated duodenal ulcer C0476273 \| respiratory distress C0269221 \| vulvar edema C0040053 \| thrombosis C0038454 \| stroke C0032227 \| pleural effusions C0027051 \| myocardial infarction C0007785 \| cerebral infarctions C0005779 \| coagulation disorders
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0040053 \| thrombosis \| 4 C0032227 \| pleural effusion \| 2 C0476273 \| respiratory distress \| 1 C0740401 \| perforated duodenal ulcer \| 1

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

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

All Snps(Total Genotypes:13)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909663	NA	2492	FSHR	umls:C0085083	CLINVAR	NA	0.506694568	NA	FSHR	2	48963476	T	C
rs121909664	NA	2492	FSHR	umls:C0085083	CLINVAR	NA	0.506694568	NA	FSHR	2	48963187	A	G
rs121909665	NA	2492	FSHR	umls:C0085083	CLINVAR	NA	0.506694568	NA	FSHR	2	48990629	G	T
rs150794546	18166181	6046	BRD2	umls:C0085083	BeFree	Sequencing of the entire coding region the FSH gene revealed wild-type alleles for all the known mutations, and the A919G and A2039G polymorphisms, previously associated with good response to FSH stimulation and severe iatrogenic OHSS.	0.001628651	2008	BRD2	6	32976655	G	A
rs28928870	12930927	2492	FSHR	umls:C0085083	UNIPROT	A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.	0.506694568	2003	FSHR	2	48963475	G	T,A
rs28928870	NA	2492	FSHR	umls:C0085083	CLINVAR	NA	0.506694568	NA	FSHR	2	48963475	G	T,A
rs28928871	12930928	2492	FSHR	umls:C0085083	UNIPROT	Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.	0.506694568	2003	FSHR	2	48963122	C	T
rs28928871	NA	2492	FSHR	umls:C0085083	CLINVAR	NA	0.506694568	NA	FSHR	2	48963122	C	T
rs28928871	20378412	2492	FSHR	umls:C0085083	BeFree	This report confirms for the first time the in-vitro findings in a single clinical case that TSH as well as HCG leads to spontaneous OHSS in patients with FSHR D567N mutation.	0.506694568	2010	FSHR	2	48963122	C	T
rs386833511	25581598	2492	FSHR	umls:C0085083	BeFree	In the present study, we describe the functional characterization of the two mutations Val(514)Ala (novel mutation) and Ala(575)Val in FSH receptor (FSHR) identified in women with OHSS developed during in vitro fertilization and primary amenorrhea, respectively.	0.506694568	2015	FSHR	2	48963097	G	A
rs6165	18321487	2492	FSHR	umls:C0085083	BeFree	Follicle-stimulating hormone receptor polymorphism (Thr307Ala) is associated with variable ovarian response and ovarian hyperstimulation syndrome in Indian women.	0.506694568	2009	FSHR	2	48963902	C	T,G
rs6166	NA	2492	FSHR	umls:C0085083	CLINVAR	NA	0.506694568	NA	FSHR	2	48962782	C	T
rs6166	19573286	2492	FSHR	umls:C0085083	BeFree	Polymorphism of the FSHR, Ser680Asn, in the FSHR gene is a predictor of the severity of symptoms in patients who develop OHSS.	0.506694568	2009	FSHR	2	48962782	C	T

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

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

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000119	Abnormality of the genitourinary system	MP:0004251	failure of heart looping	failure of the primitive heart tube to loop asymmetrically during early development
HP:0002017	Nausea and vomiting	MP:0010426	abnormal heart and great artery attachment	any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0000837	Increased circulating gonadotropin level	MP:0011533	increased urine major urinary protein level	increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine

Mapped by homologous gene(Total Items:12)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000837	Increased circulating gonadotropin level	MP:0014193	decreased epididymal cell proliferation	decrease in the expansion rate of any epididymal cell population by cell division
HP:0000138	Ovarian cyst	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002018	Nausea	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0002202	Pleural effusion	MP:0014233	bile duct epithelium hyperplasia
HP:0100598	Pulmonary edema	MP:0011088	neonatal lethality, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)
HP:0001007	Hirsutism	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0003270	Abdominal distention	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002027	Abdominal pain	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0007430	Generalized edema	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0002017	Nausea and vomiting	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001541	Ascites	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000119	Abnormality of the genitourinary system	MP:0013348	adenohypophysis hyperplasia	overdevelopment or increased size of the anterior lobe of the pituitary gland, usually due to increased cell number

Disease ID	154
Disease	ovarian hyperstimulation syndrome
Case	(Waiting for update.)

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