PedAM

Pediatric Disease Annotations & Medicines


	ablepharon-macrostomia syndrome

Disease ID	1906
Disease	ablepharon-macrostomia syndrome
Definition	An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation.
Synonym	ablepharon macrostomia syndrome ablepharon macrostomia syndrome (disorder) ams
Orphanet	ORPHANET:920
OMIM	OMIM:200110
DOID	DOID:0060550
UMLS	C1860224
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) TWIST2 \| 117581 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:8) 79650 \| USB1 \| DISEASES 80144 \| FRAS1 \| DISEASES 341640 \| FREM2 \| DISEASES 4089 \| SMAD4 \| DISEASES 1369 \| CPN1 \| DISEASES 117581 \| TWIST2 \| DISEASES 54900 \| LAX1 \| DISEASES 26785 \| SNORD63 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1906
Disease	ablepharon-macrostomia syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1906
Disease	ablepharon-macrostomia syndrome
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:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs13207351	22729570	7422	VEGFA	umls:C1860224	BeFree	Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1799983) and arterial oxygen saturation of hemoglobin (SaO2) was found to be significantly associated with the VEGFA SNPs (rs13207351, rs1570360) in Han patients with AMS.	0.001085767	2012	VEGFA	6	43770057	A	G
rs1570360	22729570	7422	VEGFA	umls:C1860224	BeFree	Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1799983) and arterial oxygen saturation of hemoglobin (SaO2) was found to be significantly associated with the VEGFA SNPs (rs13207351, rs1570360) in Han patients with AMS.	0.001085767	2012	VEGFA	6	43770093	A	G
rs1799983	22729570	7422	VEGFA	umls:C1860224	BeFree	Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1799983) and arterial oxygen saturation of hemoglobin (SaO2) was found to be significantly associated with the VEGFA SNPs (rs13207351, rs1570360) in Han patients with AMS.	0.001085767	2012	NOS3	7	150999023	T	G
rs1799983	19775216	4846	NOS3	umls:C1860224	BeFree	We tested the hypothesis that haplotypes, as determined by tagSNPs, in NOS3 would be differentially represented in individuals with and without AMS sampled at the Janai Purnima Festival at Lake Gosain Kunda, Nepal, at 4380 m. Seven SNPs were tested, and a highly significant association (p = 0.004) was found for genotypes of the commonly studied missense polymorphism Glu298Asp (rs 1799983; G/T transversion at base 894).	0.000542884	2009	NOS3	7	150999023	T	G
rs480902	22595196	54583	EGLN1	umls:C1860224	BeFree	The EGLN1 (rs480902) SNP had a significant correlation with hematocrit (HCT), HR and SaO(2) in AMS patients.	0.000542884	2012	EGLN1	1	231395881	T	C
rs796065049	NA	117581	TWIST2	umls:C1860224	CLINVAR	NA	0.360271442	NA	TWIST2;LOC100287387	2	238848438	G	A,C

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: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.)

Web
Analytics