PedAM

Pediatric Disease Annotations & Medicines


	birth defects

Disease ID	1300
Disease	birth defects
Definition	Malformations of organs or body parts during development in utero.
Synonym	abnorm congen abnormal development abnormal development, nos abnormalities abnormalities, congenital abnormality, congenital anomalous formation anomalous formation, nos anomaly anomaly congen anomaly congenital birth defect cm - congenital malformation congen abnorm congen defects congenital abnormalities congenital abnormalities [disease/finding] congenital abnormality congenital abnormality, nos congenital anatomic abnormality congenital anatomical abnormality congenital anomalies congenital anomalies of fetus congenital anomaly congenital anomaly (disorder) congenital anomaly (morphologic abnormality) congenital anomaly nos congenital anomaly nos (disorder) congenital anomaly or birth defect congenital anomaly, nos congenital anomaly, unspecified congenital defect congenital defect, nos congenital defect/deformity congenital defects congenital deformity congenital deformity (disorder) congenital deformity (morphologic abnormality) congenital deformity, nos congenital malformation congenital malformation (disorder) congenital malformation (morphologic abnormality) congenital malformation, nos congenital malformations defect, birth defect, congenital defect/deformity, congenital defects congen defects, birth defects, congenital deformities deformity deformity/defect, congenital developmental abnormality developmental anomaly developmental anomaly (morphologic abnormality) developmental anomaly, nos developmental defect developmental defect, nos developmental malformation developmental malformation, nos dysgenesis dysgenesis, nos dysmorphism dysmorphisms fetal anomaly fetal developmental abnormality fetal malformation foetal developmental abnormality foetal malformation malformation malformation, nos malformations scong
DOID	DOID:759
UMLS	C0000768
MeSH	D000013
SNOMED-CT	SNOMEDCT_US_2016_09_01:276655000;SNOMEDCT_US_2016_09_01:276654001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:39) C0018799 \| heart disease \| 9 C0152021 \| congenital heart disease \| 9 C0008925 \| cleft palate \| 8 C0008924 \| cleft lip \| 4 C0018784 \| sensorineural hearing loss \| 3 C0028754 \| obesity \| 3 C0085207 \| gestational diabetes \| 2 C0020676 \| hypothyroidism \| 2 C0265706 \| gastroschisis \| 2 C0016412 \| folate deficiency \| 2 C0035920 \| rubella \| 2 C0010308 \| congenital hypothyroidism \| 2 C0011847 \| diabetes \| 1 C0030312 \| bone marrow failure \| 1 C0456909 \| blindness \| 1 C0042373 \| vascular disease \| 1 C0000786 \| spontaneous abortion \| 1 C0162429 \| undernutrition \| 1 C0027765 \| neurological disease \| 1 C0004352 \| autism \| 1 C0008625 \| chromosomal abnormality \| 1 C0158646 \| cleft lip/palate \| 1 C0004096 \| asthma \| 1 C0080178 \| spina bifida \| 1 C0019158 \| hepatitis \| 1 C0011570 \| depression \| 1 C0005940 \| bone disease \| 1 C0032285 \| pneumonia \| 1 C0000786 \| miscarriages \| 1 C0085207 \| maternal diabetes \| 1 C0021400 \| influenza \| 1 C0003466 \| anal atresia \| 1 C0000786 \| spontaneous abortions \| 1 C0007222 \| cardiovascular disease \| 1 C0007570 \| celiac disease \| 1 C0005940 \| bone diseases \| 1 C0000786 \| miscarriage \| 1 C0162429 \| nutritional deficiencies \| 1 C0042075 \| urological diseases \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) FMR1 \| 2332 \| CTD_human NOTCH1 \| 4851 \| CTD_human FOLR1 \| 2348 \| CTD_human DLL3 \| 10683 \| CTD_human SLC31A1 \| 1317 \| CTD_human SALL1 \| 6299 \| CTD_human EYA1 \| 2138 \| CTD_human SIX1 \| 6495 \| CTD_human COL8A1 \| 1295 \| CTD_human KLF4 \| 9314 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 7039 \| TGFA \| infer 653 \| BMP5 \| infer 875 \| CBS \| infer 145258 \| GSC \| infer 3207 \| HOXA11 \| infer 3237 \| HOXD11 \| infer 4524 \| MTHFR \| infer 4548 \| MTR \| infer 4552 \| MTRR \| infer 186 \| AGTR2 \| infer 2592 \| GALT \| infer 64324 \| NSD1 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1300
Disease	birth defects
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:38) HP:0000175 \| Palatoschisis \| 8 HP:0002006 \| Tessier facial cleft \| 6 HP:0045005 \| Neural tube defect \| 5 HP:0001627 \| Congenital heart defects \| 4 HP:0000202 \| Oral clefting \| 4 HP:0000407 \| sensorineural hearing loss \| 3 HP:0009800 \| gestational diabetes \| 3 HP:0001513 \| Obesity \| 3 HP:0100507 \| Folate deficiency \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0001945 \| Fever \| 2 HP:0000821 \| Underactive thyroid \| 2 HP:0000851 \| Congenital hypothyroidism \| 2 HP:0001543 \| Gastroschisis \| 2 HP:0002475 \| Myelomeningocele \| 1 HP:0002023 \| Anal atresia \| 1 HP:0002608 \| Celiac disease \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0000717 \| Autism \| 1 HP:0030449 \| Therapeutic abortion \| 1 HP:0010497 \| Sirenomelia \| 1 HP:0000618 \| Blindness \| 1 HP:0002090 \| Pneumonia \| 1 HP:0000716 \| Depression \| 1 HP:0001622 \| Premature delivery \| 1 HP:0100333 \| Unilateral cheiloschisis \| 1 HP:0002099 \| Asthma \| 1 HP:0001623 \| Breech presentation at birth \| 1 HP:0002414 \| Spina bifida \| 1 HP:0001762 \| Talipes equinovarus \| 1 HP:0010880 \| Increased nuchal translucency \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0002323 \| Anencephaly \| 1 HP:0005268 \| Spontaneous abortion \| 1 HP:0008527 \| Hearing loss, congenital sensorineural \| 1 HP:0005528 \| Bone marrow hypoplasia \| 1

Disease ID	1300
Disease	birth defects
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:24)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893951	18676636	3622	ING2	umls:C0000768	BeFree	Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations.	0.000271442	2008	FOXC1	6	1610780	T	A,C
rs104893951	18676636	2296	FOXC1	umls:C0000768	BeFree	Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations.	0.003257302	2008	FOXC1	6	1610780	T	A,C
rs104893951	18676636	708	C1QBP	umls:C0000768	BeFree	Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations.	0.000271442	2008	FOXC1	6	1610780	T	A,C
rs104893951	18676636	925	CD8A	umls:C0000768	BeFree	Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations.	0.000271442	2008	FOXC1	6	1610780	T	A,C
rs121909627	14564217	2260	FGFR1	umls:C0000768	BeFree	We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome.	0.000542884	2003	FGFR1	8	38424690	G	C
rs121912678	19085907	90	ACVR1	umls:C0000768	BeFree	All patients with classic clinical features of FOP (great toe malformations and progressive heterotopic ossification) have previously been found to carry the same heterozygous mutation (c.617G>A; p.R206H) in the glycine and serine residue (GS) activation domain of activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor.	0.001357209	2009	ACVR1	2	157774114	C	T,G
rs121913499	23485734	3417	IDH1	umls:C0000768	BeFree	R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations.	0.000271442	2013	IDH1	2	208248389	G	T,A
rs12329305	25164089	51526	OSER1	umls:C0000768	BeFree	The OSR1 rs12329305 polymorphism contributes to the development of congenital malformations in cases of stillborn/neonatal death.	0.000271442	2015	OSR1	2	19353152	C	A,T
rs1695	23873097	2944	GSTM1	umls:C0000768	BeFree	Association GSTT1, GSTM1 and GSTP1 (Ile105Val) genetic polymorphisms in mothers with risk of congenital malformations in their children in Western Siberia: a case-control study.	0.002909916	2013	GSTP1	11	67585218	A	G
rs1695	23873097	2950	GSTP1	umls:C0000768	BeFree	Association GSTT1, GSTM1 and GSTP1 (Ile105Val) genetic polymorphisms in mothers with risk of congenital malformations in their children in Western Siberia: a case-control study.	0.002909916	2013	GSTP1	11	67585218	A	G
rs1695	23873097	2952	GSTT1	umls:C0000768	BeFree	Association GSTT1, GSTM1 and GSTP1 (Ile105Val) genetic polymorphisms in mothers with risk of congenital malformations in their children in Western Siberia: a case-control study.	0.002909916	2013	GSTP1	11	67585218	A	G
rs1805087	22855024	4548	MTR	umls:C0000768	BeFree	These findings indicate that locus A2756G in the MTR gene may play a role in susceptibility to CA of the cardiovascular system in West Siberia, but further research is necessary to confirm the association.	0.005005506	2012	MTR	1	236885200	A	G
rs1805087	22855024	4524	MTHFR	umls:C0000768	BeFree	In the group of CA of the cardiovascular system, we observed an association of MTHFR A1298C with decreased risk and an association of MTR A2756G with increased risk of CA.	0.017078432	2012	MTR	1	236885200	A	G
rs201077220	20951801	4851	NOTCH1	umls:C0000768	BeFree	We recently identified missense variants in the NOTCH1 receptor in patients with diverse left ventricular outflow tract (LVOT) malformations (NOTCH1(G661S) and NOTCH1(A683T)) that reduce ligand-induced Notch signaling.	0.121628651	2011	NOTCH1	9	136515323	C	T
rs201968272	23033317	1663	DDX11	umls:C0000768	BeFree	Here, using homozygosity mapping in a Lebanese consanguineous family followed by exome sequencing, we identified a novel homozygous mutation (c.788G>A [p.R263Q]) in DDX11 in three affected siblings with severe intellectual disability and many of the congenital abnormalities reported in the WABS original case.	0.000271442	2013	DDX11	12	31089147	G	A
rs387906617	22267179	1385	CREB1	umls:C0000768	BeFree	A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse.	0.000271442	2012	CREB1	2	207567506	A	G
rs397507444	22855024	4524	MTHFR	umls:C0000768	BeFree	In the group of CA of the cardiovascular system, we observed an association of MTHFR A1298C with decreased risk and an association of MTR A2756G with increased risk of CA.	0.017078432	2012	MTHFR	1	11794407	T	G
rs397507444	18452180	4524	MTHFR	umls:C0000768	BeFree	The methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with complex congenital malformations.	0.017078432	2008	MTHFR	1	11794407	T	G
rs397514698	23656586	2776	GNAQ	umls:C0000768	BeFree	We identified a nonsynonymous single-nucleotide variant (c.548G→A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls.	0.000271442	2013	GNAQ	9	77797577	C	T
rs4954218	21979947	22930	RAB3GAP1	umls:C0000768	BeFree	These findings suggest SNP rs4954218, located near the RAB3GAP1 gene, previously reported to be associated with corneal malformation, is a potential susceptibility locus for keratoconus.	0.000271442	2012	MAP3K19	2	135045855	G	T
rs77543610	18242159	2263	FGFR2	umls:C0000768	BeFree	A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.	0.002442977	2008	FGFR2	10	121520160	G	C
rs80338908	18401423	6772	STAT1	umls:C0000768	BeFree	Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression.	0.000814326	2008	TEK	9	27206762	C	T
rs80338908	18401423	7010	TEK	umls:C0000768	BeFree	Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression.	0.002442977	2008	TEK	9	27206762	C	T
rs80338908	23086340	7010	TEK	umls:C0000768	BeFree	A missense mutation from arginine to tryptophan at residue 849 in the kinase domain of Tie2 (Tie2-R849W) is commonly identified in familial venous malformations.	0.002442977	2013	TEK	9	27206762	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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:15)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0000768	carbamazepine	D002220	298-46-4	congenital abnormalities	MESH:D000013	marker/mechanism	21237239
C0000768	cyclophosphamide	D003520	50-18-0	congenital abnormalities	MESH:D000013	marker/mechanism	21237239
C0000768	folic acid	D005492	59-30-3	congenital abnormalities	MESH:D000013	therapeutic	11096168
C0000768	griseofulvin	D006118	126-07-8	congenital abnormalities	MESH:D000013	marker/mechanism	5768794
C0000768	ifosfamide	D007069	3778-73-2	congenital abnormalities	MESH:D000013	marker/mechanism	21237239
C0000768	phenytoin	D010672	57-41-0	congenital abnormalities	MESH:D000013	marker/mechanism	10627286
C0000768	propylthiouracil	D011441	51-52-5	congenital abnormalities	MESH:D000013	marker/mechanism	22529993
C0000768	pyrimethamine	D011739	58-14-0	congenital abnormalities	MESH:D000013	marker/mechanism	2859662
C0000768	ribavirin	D012254	36791-04-5	congenital abnormalities	MESH:D000013	marker/mechanism	11010742
C0000768	thiotepa	D013852	52-24-4	congenital abnormalities	MESH:D000013	marker/mechanism	21237239
C0000768	tretinoin	D014212	302-79-4	congenital abnormalities	MESH:D000013	marker/mechanism	18398471
C0000768	trimethadione	D014293	127-48-0	congenital abnormalities	MESH:D000013	marker/mechanism	21237239
C0000768	valproic acid	D014635	99-66-1	congenital abnormalities	MESH:D000013	marker/mechanism	19655241
C0000768	vincristine	D014750	-	congenital abnormalities	MESH:D000013	therapeutic	20216233
C0000768	vitamin e	D014810	1406-18-4	congenital abnormalities	MESH:D000013	therapeutic	22209111

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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