PedAM

Pediatric Disease Annotations & Medicines


	omphalocele

Disease ID	134
Disease	omphalocele
Definition	A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.
Synonym	amniocele congenital omphalocele congenital omphalocele (disorder) exomphalos omphalecele omphaloceles omphalocoele unspecified omphalocele unspecified omphalocele (disorder)
Orphanet	ORPHANET:660
DOID	DOID:0060327
ICD10	ICD10CM:Q79.2
UMLS	C0795690
SNOMED-CT	SNOMEDCT_US_2016_09_01:18735004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0265706 \| gastroschisis \| 3 C0031039 \| pericardial effusion \| 1 C0152101 \| hypoplastic left heart syndrome \| 1 C0019284 \| diaphragmatic hernia \| 1 C0028326 \| noonan syndrome \| 1 C0042961 \| volvulus \| 1 C0152101 \| hypoplastic left heart \| 1 C0345335 \| multicystic dysplastic kidney \| 1 C0152096 \| trisomy 18 \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4522 \| MTHFD1 \| infer 4524 \| MTHFR \| infer 6573 \| SLC19A1 \| infer 6948 \| TCN2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:137) 4830 \| NME1 \| DISEASES 23152 \| CIC \| DISEASES 6820 \| SULT2B1 \| DISEASES 7051 \| TGM1 \| DISEASES 6948 \| TCN2 \| DISEASES 140679 \| SLC32A1 \| DISEASES 3199 \| HOXA2 \| DISEASES 657 \| BMPR1A \| DISEASES 3945 \| LDHB \| DISEASES 5311 \| PKD2 \| DISEASES 4488 \| MSX2 \| DISEASES 6310 \| ATXN1 \| DISEASES 7389 \| UROD \| DISEASES 3110 \| MNX1 \| DISEASES 4622 \| MYH4 \| DISEASES 6947 \| TCN1 \| DISEASES 80896 \| NPL \| DISEASES 23314 \| SATB2 \| DISEASES 9891 \| NUAK1 \| DISEASES 7528 \| YY1 \| DISEASES 25939 \| SAMHD1 \| DISEASES 4036 \| LRP2 \| DISEASES 8942 \| KYNU \| DISEASES 590 \| BCHE \| DISEASES 4552 \| MTRR \| DISEASES 10686 \| CLDN16 \| DISEASES 80144 \| FRAS1 \| DISEASES 51176 \| LEF1 \| DISEASES 7008 \| TEF \| DISEASES 9321 \| TRIP11 \| DISEASES 4628 \| MYH10 \| DISEASES 150094 \| SIK1 \| DISEASES 3930 \| LBR \| DISEASES 11249 \| NXPH2 \| DISEASES 635 \| BHMT \| DISEASES 5921 \| RASA1 \| DISEASES 5047 \| PAEP \| DISEASES 3176 \| HNMT \| DISEASES 339745 \| SPOPL \| DISEASES 341640 \| FREM2 \| DISEASES 3948 \| LDHC \| DISEASES 7545 \| ZIC1 \| DISEASES 10225 \| CD96 \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 55843 \| ARHGAP15 \| DISEASES 9076 \| CLDN1 \| DISEASES 3549 \| IHH \| DISEASES 6469 \| SHH \| DISEASES 1073 \| CFL2 \| DISEASES 9317 \| PTER \| DISEASES 51293 \| CD320 \| DISEASES 140738 \| TMEM37 \| DISEASES 43 \| ACHE \| DISEASES 5308 \| PITX2 \| DISEASES 649 \| BMP1 \| DISEASES 6573 \| SLC19A1 \| DISEASES 81839 \| VANGL1 \| DISEASES 3090 \| HIC1 \| DISEASES 9475 \| ROCK2 \| DISEASES 137814 \| NKX2-6 \| DISEASES 811 \| CALR \| DISEASES 10611 \| PDLIM5 \| DISEASES 2118 \| ETV4 \| DISEASES 78987 \| CRELD1 \| DISEASES 64840 \| PORCN \| DISEASES 7481 \| WNT11 \| DISEASES 2187 \| FANCB \| DISEASES 3714 \| JAG2 \| DISEASES 3214 \| HOXB4 \| DISEASES 10572 \| SIVA1 \| DISEASES 3212 \| HOXB2 \| DISEASES 2049 \| EPHB3 \| DISEASES 29940 \| DSE \| DISEASES 5727 \| PTCH1 \| DISEASES 60529 \| ALX4 \| DISEASES 2139 \| EYA2 \| DISEASES 6622 \| SNCA \| DISEASES 9402 \| GRAP2 \| DISEASES 79712 \| GTDC1 \| DISEASES 79469 \| DLEU2L \| DISEASES 2138 \| EYA1 \| DISEASES 7316 \| UBC \| DISEASES 389840 \| MAP3K15 \| DISEASES 3767 \| KCNJ11 \| DISEASES 8510 \| MMP23B \| DISEASES 219844 \| HYLS1 \| DISEASES 3482 \| IGF2R \| DISEASES 64919 \| BCL11B \| DISEASES 2571 \| GAD1 \| DISEASES 2736 \| GLI2 \| DISEASES 4548 \| MTR \| DISEASES 23456 \| ABCB10 \| DISEASES 10090 \| UST \| DISEASES 4082 \| MARCKS \| DISEASES 1193 \| CLIC2 \| DISEASES 9748 \| SLK \| DISEASES 2316 \| FLNA \| DISEASES 5236 \| PGM1 \| DISEASES 84455 \| EFCAB7 \| DISEASES 23421 \| ITGB3BP \| DISEASES 29929 \| ALG6 \| DISEASES 27022 \| FOXD3 \| DISEASES 2516 \| NR5A1 \| DISEASES 5592 \| PRKG1 \| DISEASES 2048 \| EPHB2 \| DISEASES 2304 \| FOXE1 \| DISEASES 4958 \| OMD \| DISEASES 4524 \| MTHFR \| DISEASES 3980 \| LIG3 \| DISEASES 5420 \| PODXL \| DISEASES 1855 \| DVL1 \| DISEASES 158326 \| FREM1 \| DISEASES 7054 \| TH \| DISEASES 1497 \| CTNS \| DISEASES 4487 \| MSX1 \| DISEASES 53353 \| LRP1B \| DISEASES 174 \| AFP \| DISEASES 2737 \| GLI3 \| DISEASES 1781 \| DYNC1I2 \| DISEASES 6093 \| ROCK1 \| DISEASES 57468 \| SLC12A5 \| DISEASES 4776 \| NFATC4 \| DISEASES 3481 \| IGF2 \| DISEASES 7439 \| BEST1 \| DISEASES 117581 \| TWIST2 \| DISEASES 389643 \| NUGGC \| DISEASES 2263 \| FGFR2 \| DISEASES 1028 \| CDKN1C \| DISEASES 6628 \| SNRPB \| DISEASES 342371 \| ATXN1L \| DISEASES 79813 \| EHMT1 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 4522 \| MTHFD1 \| DISEASES 64220 \| STRA6 \| DISEASES 162514 \| TRPV3 \| DISEASES 10984 \| KCNQ1OT1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	134
Disease	omphalocele
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0001622 \| Premature birth HP:0001539 \| Omphalocele
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:21) HP:0001683 \| Ectopia cordis \| 4 HP:0001543 \| Gastroschisis \| 3 HP:0100790 \| Hernia \| 2 HP:0000078 \| Genital abnormalities \| 2 HP:0002580 \| Volvulus \| 1 HP:0030722 \| Ectopic liver \| 1 HP:0009914 \| Cyclopia \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0000961 \| Cyanosis \| 1 HP:0003270 \| Distended abdomen \| 1 HP:0100839 \| Hepatic agenesis \| 1 HP:0000775 \| Diaphragmatic defect \| 1 HP:0100548 \| Exstrophy \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0002836 \| Bladder exstrophy \| 1 HP:0010866 \| Congenital anterior abdominal wall defect \| 1 HP:0000003 \| Multicystic kidney dysplasia \| 1 HP:0100842 \| Septo-optic dysplasia \| 1 HP:0009827 \| Amelia \| 1 HP:0001698 \| Pericardial effusions \| 1 HP:0200037 \| Skin vesicle \| 1

Disease ID	134
Disease	omphalocele
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C1705254 \| congenital malformation C0520562 \| intestinal dilatation C0340425 \| hypertrophic cardiomyopathy C0272414 \| wandering spleen C0265217 \| lethal multiple pterygium syndrome C0042143 \| uterine rupture C0041207 \| persistent truncus arteriosus C0033770 \| prune-belly syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0000768 \| congenital malformation \| 1

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1801131	22116453	4524	MTHFR	umls:C0795690	BeFree	In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele.	0.002909916	2012	MTHFR	1	11794419	T	G
rs2232775	22116453	4524	MTHFR	umls:C0795690	BeFree	In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele.	0.002909916	2012	NDUFA7;CD320	19	8308268	T	C

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001622	Premature birth	MP:0009674	decreased birth weight;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001622	Premature birth	MP:0011250	abdominal situs ambiguus;HP:0001539	Omphalocele

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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