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	shprintzen-goldberg syndrome

Disease ID	1668
Disease	shprintzen-goldberg syndrome
Definition	A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, a high, narrow palate, micrognathia, and low-set ears. The bodies of affected individuals resemble those of people with Marfan syndrome.
Synonym	craniosynostosis and marfanoid disorder, type 1 craniosynostosis with arachnodactyly and abdominal hernias marfanoid craniosynostosis syndrome marfanoid disorder with craniosynostosis, type i marfanoid-craniosynostosis syndrome shprintzen golberg craniosynostosis shprintzen golberg craniosynostosis syndrome shprintzen goldberg craniosynostosis syndrome shprintzen goldberg craniosynostosis syndrome (disorder) shprintzen-goldberg craniosynostosis syndrome
Orphanet	ORPHANET:2462
OMIM	OMIM:182212
UMLS	C1321551
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0019294 \| inguinal hernia \| 1 C0003486 \| aortic aneurysm \| 1 C0036439 \| scoliosis \| 1 C0019294 \| inguinal hernias \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2200 \| FBN1 \| CTD_human;ORPHANET;UNIPROT 6497 \| SKI \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) SKI \| 1p36.33-p36.32 FBN1 \| 15q21.1

Disease ID	1668
Disease	shprintzen-goldberg syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000023 \| Inguinal hernia \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0002650 \| Scoliosis \| 1

Disease ID	1668
Disease	shprintzen-goldberg syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0345050 \| annuloaortic ectasia
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:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434514	NA	26128	KIAA1279	umls:C1321551	CLINVAR	NA	0.12	NA	KIAA1279	10	68989100	C	T
rs121434515	NA	26128	KIAA1279	umls:C1321551	CLINVAR	NA	0.12	NA	KIAA1279	10	68989082	G	T
rs387907303	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2229113	G	A
rs387907304	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2228860	C	G
rs387907305	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2228867	G	A,T
rs387907306	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2228866	G	A,T
rs397514589	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2228870	C	A
rs397514590	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2228869	C	T
rs398122889	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2229049	GACCGCTCC	-
rs398122914	NA	6497	SKI	umls:C1321551	CLINVAR	NA	0.481085767	NA	SKI	1	2229046	TCCGACCGCTCC	-
rs730882150	NA	26128	KIAA1279	umls:C1321551	CLINVAR	NA	0.12	NA	KIAA1279	10	69005119	C	A
rs730882151	NA	26128	KIAA1279	umls:C1321551	CLINVAR	NA	0.12	NA	KIAA1279	10	69005124	AG	-

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	1668
Disease	shprintzen-goldberg syndrome
Case	(Waiting for update.)

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