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	simpson dysmorphia syndrome

Disease ID	1341
Disease	simpson dysmorphia syndrome
Definition	A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability.
Synonym	bulldog syndrome dgsx dysplasia gigantism syndrome, x-linked golabi-rosen syndrome mental retardation-overgrowth syndrome sdys sgbs sgbs1 simpson dysplasia syndrome simpson golabi behmel syndrome simpson golabi behmel syndrome type 1 simpson syndrome simpson-golabi-behmel syndrome simpson-golabi-behmel syndrome (disorder) simpson-golabi-behmel syndrome, type 1
Orphanet	ORPHANET:373
OMIM	OMIM:312870
DOID	DOID:0060248
UMLS	C0796154
SNOMED-CT	SNOMEDCT_US_2016_09_01:439143004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0010308 \| congenital hypothyroidism \| 1 C0008925 \| cleft palate \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 8481 \| OFD1 \| UNIPROT 54884 \| RETSAT \| CTD_human 2719 \| GPC3 \| CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET 2239 \| GPC4 \| ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:46) 9370 \| ADIPOQ \| 2.669 \| DISEASES 2334 \| AFF2 \| 1.424 \| DISEASES 10533 \| ATG7 \| 1.089 \| DISEASES 25805 \| BAMBI \| 3.037 \| DISEASES 960 \| CD44 \| 2.966 \| DISEASES 1028 \| CDKN1C \| 1.87 \| DISEASES 1052 \| CEBPD \| 1.389 \| DISEASES 1675 \| CFD \| 1.406 \| DISEASES 56265 \| CPXM1 \| 3.966 \| DISEASES 1499 \| CTNNB1 \| 1.141 \| DISEASES 1741 \| DLG3 \| 1.997 \| DISEASES 1961 \| EGR4 \| 2.568 \| DISEASES 83401 \| ELOVL3 \| 3.146 \| DISEASES 2246 \| FGF1 \| 2.761 \| DISEASES 2254 \| FGF9 \| 1.713 \| DISEASES 252995 \| FNDC5 \| 1.207 \| DISEASES 50486 \| G0S2 \| 2.29 \| DISEASES 2696 \| GIPR \| 1.655 \| DISEASES 2719 \| GPC3 \| 6.988 \| DISEASES 2239 \| GPC4 \| 5.626 \| DISEASES 2262 \| GPC5 \| 3.672 \| DISEASES 10082 \| GPC6 \| 4.789 \| DISEASES 3481 \| IGF2 \| 3.039 \| DISEASES 3482 \| IGF2R \| 2.134 \| DISEASES 3654 \| IRAK1 \| 1.161 \| DISEASES 9682 \| KDM4A \| 1.489 \| DISEASES 64900 \| LPIN3 \| 2.838 \| DISEASES 5599 \| MAPK8 \| 1.016 \| DISEASES 28985 \| MCTS1 \| 3.447 \| DISEASES 8076 \| MFAP5 \| 2.754 \| DISEASES 4881 \| NPR1 \| 1.704 \| DISEASES 64324 \| NSD1 \| 2.423 \| DISEASES 8481 \| OFD1 \| 2.503 \| DISEASES 23762 \| OSBP2 \| 2.257 \| DISEASES 5214 \| PFKP \| 2.159 \| DISEASES 5733 \| PTGER3 \| 1.362 \| DISEASES 5764 \| PTN \| 1.175 \| DISEASES 292 \| SLC25A5 \| 2.176 \| DISEASES 293 \| SLC25A6 \| 2.264 \| DISEASES 6517 \| SLC2A4 \| 2.075 \| DISEASES 6590 \| SLPI \| 1.242 \| DISEASES 81609 \| SNX27 \| 2.811 \| DISEASES 6899 \| TBX1 \| 1.907 \| DISEASES 6925 \| TCF4 \| 1.276 \| DISEASES 8740 \| TNFSF14 \| 2.064 \| DISEASES 80146 \| UXS1 \| 3.757 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1341
Disease	simpson dysmorphia syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0008523 \| Ear, posterior helical notch
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002015 \| Swallowing difficulty \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0001548 \| Overgrowth \| 1 HP:0000851 \| Congenital hypothyroidism \| 1

Disease ID	1341
Disease	simpson dysmorphia syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
GPC3	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

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

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894854	NA	2719	GPC3	umls:C0796154	CLINVAR	NA	0.570043349	NA	GPC3	X	133753628	A	T
rs104894855	NA	2719	GPC3	umls:C0796154	CLINVAR	NA	0.570043349	NA	GPC3	X	133753919	G	A
rs122453121	NA	2719	GPC3	umls:C0796154	CLINVAR	NA	0.570043349	NA	GPC3	X	133699902	G	A
rs267606850	NA	2719	GPC3	umls:C0796154	CLINVAR	NA	0.570043349	NA	GPC3	X	133536201	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.)

Disease ID	1341
Disease	simpson dysmorphia syndrome
Case	(Waiting for update.)

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