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


	situs ambiguus

Disease ID	570
Disease	situs ambiguus
Definition	A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.
Synonym	abdominal situs inversus complete transposition complete transposition (morphologic abnormality) inversus situs inversus, situs situs inversus situs inversus (disorder) situs inversus [disease/finding] situs inversus nos situs inversus nos (disorder) situs inversus visceralis situs inversus viscerum situs inversus viscerum (disorder) situs inversus, unspecified situs inversus, unspecified (disorder) situs transversus situs viscerum inversus siv transposition of viscera unspecified visceral inversion
Orphanet	ORPHANET:157769 ORPHANET:216675 ORPHANET:101063
OMIM	OMIM:270100
DOID	DOID:758 DOID:0050545
ICD10	ICD10CM:Q89.3
UMLS	C0037221
MeSH	D012857
SNOMED-CT	SNOMEDCT_US_2016_09_01:43876007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:89) C0003615 \| appendicitis \| 10 C0085693 \| acute appendicitis \| 6 C0024623 \| gastric cancer \| 5 C0008350 \| cholelithiasis \| 5 C0027051 \| myocardial infarction \| 4 C0242379 \| lung cancer \| 4 C0027051 \| myocardial infarct \| 4 C0001418 \| adenocarcinoma \| 3 C0349530 \| early gastric cancer \| 3 C0018818 \| ventricular septal defect \| 3 C0019204 \| hepatocellular carcinoma \| 3 C0028754 \| obesity \| 2 C0024221 \| lymphangioma \| 2 C0031154 \| peritonitis \| 2 C0008350 \| gallstones \| 2 C0003507 \| aortic stenosis \| 2 C0008350 \| gallstone \| 2 C0005411 \| biliary atresia \| 2 C0022658 \| kidney disease \| 2 C0238198 \| gastrointestinal stromal tumor \| 2 C0014859 \| esophageal cancer \| 2 C0879615 \| stromal tumor \| 2 C0007113 \| rectal cancer \| 2 C0017168 \| esophageal reflux disease \| 2 C0022521 \| kartagener syndrome \| 2 C0022679 \| cystic kidney \| 2 C0017168 \| esophageal reflux \| 2 C0028756 \| morbid obesity \| 2 C0007102 \| colon cancer \| 2 C0020542 \| pulmonary hypertension \| 1 C0206698 \| cholangiocarcinoma \| 1 C0037998 \| splenic infarction \| 1 C0264766 \| rheumatic mitral stenosis \| 1 C0566602 \| primary sclerosing cholangitis \| 1 C0006285 \| bronchopneumonia \| 1 C0008312 \| biliary cirrhosis \| 1 C0020538 \| hypertension \| 1 C0007138 \| urothelial carcinoma \| 1 C0022578 \| keratoconus \| 1 C0008311 \| cholangitis \| 1 C0008780 \| primary ciliary dyskinesia \| 1 C0017168 \| oesophageal reflux \| 1 C0476089 \| endometrial cancer \| 1 C0340305 \| inferior myocardial infarction \| 1 C0021843 \| intestinal obstruction \| 1 C0017168 \| gastroesophageal reflux disease \| 1 C0022354 \| obstructive jaundice \| 1 C0152021 \| congenital heart disease \| 1 C0023443 \| hairy cell leukemia \| 1 C0019284 \| diaphragmatic hernia \| 1 C0041341 \| tuberous sclerosis \| 1 C0085413 \| autosomal dominant polycystic kidney \| 1 C0007117 \| basal cell carcinoma \| 1 C0700639 \| congenital hypertrophic pyloric stenosis \| 1 C0476089 \| endometrial ca \| 1 C1290398 \| cerebral artery aneurysm \| 1 C0013295 \| duodenal ulcer \| 1 C0024164 \| lutembacher's syndrome \| 1 C0034194 \| pyloric stenosis \| 1 C0008313 \| sclerosing cholangitis \| 1 C0001430 \| adenoma \| 1 C0235974 \| pancreatic cancer \| 1 C0878544 \| cardiomyopathy \| 1 C0018799 \| heart disease \| 1 C0026269 \| mitral stenosis \| 1 C0085413 \| autosomal dominant polycystic kidney disease \| 1 C0206620 \| cystic lymphangioma \| 1 C0007130 \| mucinous adenocarcinoma \| 1 C0004779 \| nevoid basal cell carcinoma syndrome \| 1 C0016522 \| patent foramen ovale \| 1 C0700639 \| hypertrophic pyloric stenosis \| 1 C0025362 \| mental retardation \| 1 C0030920 \| peptic ulcer \| 1 C0024164 \| lutembacher syndrome \| 1 C0155626 \| acute myocardial infarction \| 1 C0684249 \| carcinoma of the lung \| 1 C0037199 \| sinusitis \| 1 C0023890 \| cirrhosis \| 1 C0175703 \| tar syndrome \| 1 C0026896 \| myasthenia gravis \| 1 C0206667 \| adrenal adenoma \| 1 C0334684 \| renal adenoma \| 1 C0021933 \| intussusception \| 1 C0006277 \| bronchitis \| 1 C0013069 \| double outlet right ventricle \| 1 C0023418 \| leukemia \| 1 C0017168 \| gastroesophageal reflux \| 1 C0006267 \| bronchiectasis \| 1 C0013384 \| dyskinesias \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 653275 \| CFC1B \| UNIPROT 7547 \| ZIC3 \| ORPHANET;UNIPROT 4838 \| NODAL \| ORPHANET 55997 \| CFC1 \| ORPHANET;UNIPROT 203286 \| ANKS6 \| CTD_human 7044 \| LEFTY2 \| ORPHANET;UNIPROT 220136 \| CFAP53 \| ORPHANET 93 \| ACVR2B \| CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:72) 91 \| ACVR1B \| 1.965 \| DISEASES 93 \| ACVR2B \| 2.678 \| DISEASES 148 \| ADRA1A \| 2.192 \| DISEASES 146 \| ADRA1D \| 2.065 \| DISEASES 8852 \| AKAP4 \| 2.296 \| DISEASES 22881 \| ANKRD6 \| 2.943 \| DISEASES 801 \| CALM1 \| 1.993 \| DISEASES 339829 \| CCDC39 \| 4.533 \| DISEASES 55036 \| CCDC40 \| 5.038 \| DISEASES 80184 \| CEP290 \| 2.431 \| DISEASES 1081 \| CGA \| 1.912 \| DISEASES 78987 \| CRELD1 \| 2.543 \| DISEASES 1499 \| CTNNB1 \| 1.341 \| DISEASES 1630 \| DCC \| 1.706 \| DISEASES 123872 \| DNAAF1 \| 4.399 \| DISEASES 352909 \| DNAAF3 \| 3.516 \| DISEASES 8701 \| DNAH11 \| 4.786 \| DISEASES 25911 \| DPCD \| 3.354 \| DISEASES 1855 \| DVL1 \| 2.458 \| DISEASES 161582 \| DYX1C1 \| 2.305 \| DISEASES 2253 \| FGF8 \| 1.243 \| DISEASES 27022 \| FOXD3 \| 1.569 \| DISEASES 2302 \| FOXJ1 \| 3.66 \| DISEASES 9573 \| GDF3 \| 2.094 \| DISEASES 9464 \| HAND2 \| 1.159 \| DISEASES 26762 \| HAVCR1 \| 1.807 \| DISEASES 10013 \| HDAC6 \| 1.347 \| DISEASES 84667 \| HES7 \| 3.571 \| DISEASES 8100 \| IFT88 \| 1.97 \| DISEASES 11172 \| INSL6 \| 3.214 \| DISEASES 11127 \| KIF3A \| 2.986 \| DISEASES 3831 \| KLC1 \| 1.946 \| DISEASES 7044 \| LEFTY2 \| 3.081 \| DISEASES 54903 \| MKS1 \| 2.402 \| DISEASES 727897 \| MUC5B \| 1.993 \| DISEASES 4624 \| MYH6 \| 1.123 \| DISEASES 4641 \| MYO1C \| 1.111 \| DISEASES 4642 \| MYO1D \| 4.042 \| DISEASES 4739 \| NEDD9 \| 1.429 \| DISEASES 29922 \| NME7 \| 2.907 \| DISEASES 27031 \| NPHP3 \| 4.374 \| DISEASES 261734 \| NPHP4 \| 2.826 \| DISEASES 23467 \| NPTXR \| 1.697 \| DISEASES 64359 \| NXN \| 2.282 \| DISEASES 8481 \| OFD1 \| 1.94 \| DISEASES 5214 \| PFKP \| 2.059 \| DISEASES 128344 \| PIFO \| 2.993 \| DISEASES 23654 \| PLXNB2 \| 3.082 \| DISEASES 5787 \| PTPRB \| 2.049 \| DISEASES 51715 \| RAB23 \| 2.128 \| DISEASES 5991 \| RFX3 \| 2.966 \| DISEASES 5992 \| RFX4 \| 3.201 \| DISEASES 7955 \| RNF217-AS1 \| 1.749 \| DISEASES 6103 \| RPGR \| 2.691 \| DISEASES 57096 \| RPGRIP1 \| 1.736 \| DISEASES 221421 \| RSPH9 \| 4.275 \| DISEASES 23513 \| SCRIB \| 2.403 \| DISEASES 11231 \| SEC63 \| 2.504 \| DISEASES 5270 \| SERPINE2 \| 3.883 \| DISEASES 788 \| SLC25A20 \| 1.757 \| DISEASES 347734 \| SLC35B2 \| 1.351 \| DISEASES 6546 \| SLC8A1 \| 1.694 \| DISEASES 79582 \| SPAG16 \| 3.605 \| DISEASES 200162 \| SPAG17 \| 1.937 \| DISEASES 9576 \| SPAG6 \| 2.597 \| DISEASES 6991 \| TCTE3 \| 3.553 \| DISEASES 255758 \| TCTEX1D2 \| 3.762 \| DISEASES 284486 \| THEM5 \| 2.007 \| DISEASES 51259 \| TMEM216 \| 2.745 \| DISEASES 91147 \| TMEM67 \| 2.047 \| DISEASES 3842 \| TNPO1 \| 2.338 \| DISEASES 57216 \| VANGL2 \| 1.74 \| DISEASES
Locus	Symbol \| Locus(Total Locus:8) NODAL \| 10q22.1 LEFTY2 \| 1q42.12 ZIC3 \| Xq26.3 MMP21 \| 10q26.2 CFC1 \| 2q21.1 ACVR2B \| 3p22.2 CFAP53 \| 18q21.1 PKD1L1 \| 7p12.3

Disease ID	570
Disease	situs ambiguus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:92) HP:0001651 \| Thoracic situs inversus \| 48 HP:0001081 \| Gallstones \| 7 HP:0030731 \| Carcinoma \| 6 HP:0001669 \| Transposition of the great arteries \| 6 HP:0002664 \| Neoplasia \| 5 HP:0012126 \| Gastric cancer \| 5 HP:0001658 \| Myocardial infarction \| 4 HP:0001748 \| Polysplenia \| 4 HP:0001629 \| Ventricular septal defects \| 3 HP:0001627 \| Congenital heart defects \| 3 HP:0001649 \| Tachycardia \| 3 HP:0001402 \| Hepatocellular carcinoma \| 3 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0003003 \| Colon cancer \| 2 HP:0002020 \| Heartburn \| 2 HP:0001746 \| Absent spleen \| 2 HP:0100790 \| Hernia \| 2 HP:0001650 \| Valvular aortic stenosis \| 2 HP:0002586 \| Peritonitis \| 2 HP:0002110 \| Bronchiectasis \| 2 HP:0011540 \| Congenitally corrected transposition of the great arteries \| 2 HP:0002247 \| Duodenal atresia \| 2 HP:0001750 \| Single ventricle \| 2 HP:0000113 \| Polycystic kidney dysplasia \| 2 HP:0001513 \| Obesity \| 2 HP:0100723 \| Gastrointestinal stroma tumor \| 2 HP:0100764 \| Lymphangioma \| 2 HP:0001696 \| Situs inversus totalis \| 2 HP:0012265 \| Ciliary dyskinesia \| 2 HP:0005912 \| Biliary duct atresia \| 2 HP:0011599 \| Mesocardia \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0000952 \| Yellow skin \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0100523 \| Hepatic abscess \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0030151 \| Cholangitis \| 1 HP:0001249 \| Mental retardation \| 1 HP:0002107 \| Collapsed lung \| 1 HP:0001719 \| Double-outlet right ventricle \| 1 HP:0000246 \| Sinus inflammation \| 1 HP:0000822 \| Hypertension \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0012730 \| Aglossia \| 1 HP:0011703 \| Sinus tach \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0012263 \| Immotile cilia \| 1 HP:0004749 \| Atrial flutter \| 1 HP:0003363 \| Situs inversus viscerum \| 1 HP:0002566 \| Intestinal malrotation \| 1 HP:0001682 \| Subvalvular aortic stenosis \| 1 HP:0011109 \| Chronic sinusitis \| 1 HP:0011665 \| Takotsubo cardiomyopathy \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0001909 \| Leukemia \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0004602 \| Fusion of cervical vertebrae c2-3 \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0002894 \| Neoplasia of the pancreas \| 1 HP:0010961 \| Intralobar sequestration \| 1 HP:0010772 \| Anomalous pulmonary venous return \| 1 HP:0004469 \| Chronic bronchitis \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0002671 \| Basalioma \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0002021 \| Pyloric stenosis \| 1 HP:0005160 \| Total anomalous pulmonary venous return \| 1 HP:0011626 \| Scimitar anomaly \| 1 HP:0012387 \| Bronchitis \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0100632 \| Pulmonary sequestration \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0000563 \| Conical cornea \| 1 HP:0100750 \| Pulmonary atelectasis \| 1 HP:0030785 \| Mediastinal cystic lymphangioma \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0012223 \| Ruptured spleen \| 1 HP:0002588 \| Duodenal ulcer \| 1 HP:0011683 \| Restrictive ventricular septal defect \| 1 HP:0030153 \| Cholangiocarcinoma \| 1 HP:0002613 \| Biliary cirrhosis \| 1 HP:0004398 \| Peptic ulcer \| 1 HP:0100660 \| Dyskinesis \| 1 HP:0002576 \| Intussusception \| 1 HP:0001747 \| Accessory spleen \| 1

Disease ID	570
Disease	situs ambiguus
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs150508940	20643351	128344	PIFO	umls:C0037221	BeFree	This phenotype is likely relevant in humans, because we identified a heterozygous R80K PIFO mutation in a fetus with situs inversus and cystic liver and kidneys, and in patient with double-outflow right ventricle.	0.000271442	2010	PIFO	1	111347753	G	A

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:0)
(Waiting for update.)

Disease ID	570
Disease	situs ambiguus
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter