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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Arachnodactyly (D054119)
Parent Node: Craniosynostoses (D003398)
Parent Node: Marfan Syndrome (D008382)
..Starting node ..Shprintzen Golberg craniosynostosis (C537328)
Child Nodes:
Sister Nodes:
..Cutis Laxa-Marfanoid Syndrome (C563639)
..Furlong syndrome (C538192)
..Lujan Fryns syndrome (C537724)
..Marfan Syndrome type 2 (C535911)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..Marfanoid Habitus with Situs Inversus (C563814)
..Marfanoid hypermobility syndrome (C531742)
..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
..Shprintzen Golberg craniosynostosis (C537328)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10212

Name:

Shprintzen Golberg craniosynostosis

Definition:

Alternative IDs:

OMIM:182212

ParentIDs:

MESH:D003398|MESH:D008382|MESH:D054119

TreeNumbers:

C05.116.099.370.894.232/C537328 |C05.116.099.674/C537328 |C05.660.207.240/C537328 |C05.660.207.707.249/C537328 |C05.660.585.174/C537328 |C05.660.906.364/C537328 |C14.240.400.725/C537328 |C14.280.400.725/C537328 |C16.131.077.550/C537328 |C16.131.240.400.720/C53732

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C537328
MeSH: C537328
OMIM: 182212;

Genes: SKI;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009023	Abdominal wall muscle weakness	HP:0040284
3	HP:0000377	Abnormality of the pinna
4	HP:0000463	Anteverted nares	HP:0040284
5	HP:0004942	Aortic aneurysm	HP:0040284
6	HP:0001166	Arachnodactyly	HP:0040284
7	HP:0007099	Arnold-Chiari type I malformation
8	HP:0008440	C1-C2 vertebral abnormality
9	HP:0012385	Camptodactyly	HP:0040284
10	HP:0000405	Conductive hearing impairment	HP:0040284
11	HP:0001363	Craniosynostosis	HP:0040284
12	HP:0000028	Cryptorchidism	HP:0040284
13	HP:0000689	Dental malocclusion
14	HP:0003083	Dislocated radial head	HP:0040284
15	HP:0000268	Dolichocephaly	HP:0040284
16	HP:0000494	Downslanted palpebral fissures	HP:0040284
17	HP:0008872	Feeding difficulties in infancy	HP:0040284
18	HP:0002007	Frontal bossing
19	HP:0002020	Gastroesophageal reflux	HP:0040284
20	HP:0002816	Genu recurvatum
21	HP:0002857	Genu valgum	HP:0040284
22	HP:0001263	Global developmental delay
23	HP:0000218	High palate	HP:0040284
24	HP:0000238	Hydrocephalus	HP:0040284
25	HP:0000974	Hyperextensible skin	HP:0040284
26	HP:0000316	Hypertelorism	HP:0040284
27	HP:0000327	Hypoplasia of the maxilla	HP:0040284
28	HP:0001252	Hypotonia	HP:0040284
29	HP:0000023	Inguinal hernia	HP:0040284
30	HP:0001249	Intellectual disability
31	HP:0009473	Joint contracture of the hand	HP:0040284
32	HP:0001382	Joint hypermobility	HP:0040284
33	HP:0000895	Lateral clavicle hook
34	HP:0000368	Low-set, posteriorly rotated ears	HP:0040284
35	HP:0003016	Metaphyseal widening	HP:0040284
36	HP:0001840	Metatarsus adductus
37	HP:0000252	Microcephaly	HP:0040284
38	HP:0000347	Micrognathia	HP:0040284
39	HP:0003717	Minimal subcutaneous fat
40	HP:0001634	Mitral valve prolapse	HP:0040284
41	HP:0000545	Myopia	HP:0040284
42	HP:0000189	Narrow palate
43	HP:0002870	Obstructive sleep apnea	HP:0040284
44	HP:0000938	Osteopenia
45	HP:0000768	Pectus carinatum
46	HP:0000767	Pectus excavatum
47	HP:0001763	Pes planus
48	HP:0011220	Prominent forehead	HP:0040284
49	HP:0000508	Ptosis	HP:0040284
50	HP:0002650	Scoliosis	HP:0040284
51	HP:0000586	Shallow orbits	HP:0040284
52	HP:0003745	Sporadic
53	HP:0000486	Strabismus	HP:0040284
54	HP:0005815	Supernumerary ribs	HP:0040284
55	HP:0001762	Talipes equinovarus	HP:0040284
56	HP:0000506	Telecanthus
57	HP:0000883	Thin ribs
58	HP:0001537	Umbilical hernia	HP:0040284
59	HP:0000260	Wide anterior fontanel

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_015634.3(KIF1BP):c.250G>T (p.Glu84Ter)	26128	KIF1BP	Pathogenic	121434515	RCV000001804;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	10	70748838	70748838	NM_015634.3:c.250G>T	NP_056449.1:p.Glu84Ter	NC_000010.10:g.70748838G>T	OMIM Allelic Variant:609367.0002	C1321551 182212 Shprintzen-Goldberg syndrome
NM_015634.3(KIF1BP):c.268C>T (p.Arg90Ter)	26128	KIF1BP	Pathogenic	121434514	RCV000001803;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	10	70748856	70748856	NM_015634.3:c.268C>T	NP_056449.1:p.Arg90Ter	NC_000010.10:g.70748856C>T	OMIM Allelic Variant:609367.0001	C1321551 182212 Shprintzen-Goldberg syndrome
NM_015634.3(KIF1BP):c.599C>A (p.Ser200Ter)	26128	KIF1BP	Pathogenic	730882150	RCV000162029;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	10	70764875	70764875	NM_015634.3:c.599C>A	NP_056449.1:p.Ser200Ter	NC_000010.10:g.70764875C>A	OMIM Allelic Variant:609367.0003	C1321551 182212 Shprintzen-Goldberg syndrome
NM_015634.3(KIF1BP):c.604_605delAG (p.Arg202Ilefs)	26128	KIF1BP	Pathogenic	730882151	RCV000162030;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	10	70764880	70764881	NM_015634.3:c.604_605delAG	NP_056449.1:p.Arg202Ilefs	NC_000010.10:g.70764880_70764881delAG	OMIM Allelic Variant:609367.0004	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.62T>G (p.Leu21Arg)	6497	SKI	Pathogenic	869312902	RCV000210450;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160267	2160267	NM_003036.3:c.62T>G	NP_003027.1:p.Leu21Arg	NC_000001.10:g.2160267T>G	-	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.94C>G (p.Leu32Val)	6497	SKI	Pathogenic	387907304	RCV000030817;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160299	2160299	NM_003036.3:c.94C>G	NP_003027.1:p.Leu32Val	NC_000001.10:g.2160299C>G	OMIM Allelic Variant:164780.0002	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.100G>A (p.Gly34Ser)	6497	SKI	Pathogenic	387907306	RCV000030819; RCV000200686;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002; MedGen:CN221809	1	2160305	2160305	NM_003036.3:c.100G>A	NP_003027.1:p.Gly34Ser	NC_000001.10:g.2160305G>A,NC_000001.10:g.2160305G>T	OMIM Allelic Variant:164780.0004	CN221809 not provided; C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.100G>T (p.Gly34Cys)	6497	SKI	Pathogenic	387907306	RCV000030820; RCV000197434;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002; MedGen:CN221809	1	2160305	2160305	NM_003036.3:c.100G>T	NP_003027.1:p.Gly34Cys	NC_000001.10:g.2160305G>A,NC_000001.10:g.2160305G>T	OMIM Allelic Variant:164780.0005	CN221809 not provided; C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.101G>A (p.Gly34Asp)	6497	SKI	Pathogenic	387907305	RCV000030818;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160306	2160306	NM_003036.3:c.101G>A	NP_003027.1:p.Gly34Asp	NC_000001.10:g.2160306G>A,NC_000001.10:g.2160306G>T	OMIM Allelic Variant:164780.0003	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.101G>T (p.Gly34Val)	6497	SKI	Pathogenic	387907305	RCV000033005;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160306	2160306	NM_003036.3:c.101G>T	NP_003027.1:p.Gly34Val	NC_000001.10:g.2160306G>A,NC_000001.10:g.2160306G>T	OMIM Allelic Variant:164780.0007	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.103C>T (p.Pro35Ser)	6497	SKI	Pathogenic	397514590	RCV000033008;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160308	2160308	NM_003036.3:c.103C>T	NP_003027.1:p.Pro35Ser	NC_000001.10:g.2160308C>T	OMIM Allelic Variant:164780.0010	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.104C>A (p.Pro35Gln)	6497	SKI	Pathogenic	397514589	RCV000033007;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160309	2160309	NM_003036.3:c.104C>A	NP_003027.1:p.Pro35Gln	NC_000001.10:g.2160309C>A	OMIM Allelic Variant:164780.0009	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.216C>T (p.Pro72=)	6497	SKI	Likely benign;Uncertain significance	756778048	RCV000204079; RCV000173297;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002; MedGen:CN221809	1	2160421	2160421	NM_003036.3:c.216C>T	NP_003027.1:p.Pro72=	NC_000001.10:g.2160421C>T	-	CN221809 not provided; C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)	6497	SKI	Pathogenic	398122914	RCV000033006;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160485	2160496	NM_003036.3:c.280_291delTCCGACCGCTCC	NP_003027.1:p.Ser94_Ser97del	NC_000001.10:g.2160485_2160496delTCCGACCGCTCC	OMIM Allelic Variant:164780.0008	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.283_291delGACCGCTCC (p.Asp95_Ser97del)	6497	SKI	Pathogenic	398122889	RCV000030821;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160488	2160496	NM_003036.3:c.283_291delGACCGCTCC	NP_003027.1:p.Asp95_Ser97del	NC_000001.10:g.2160488_2160496delGACCGCTCC	OMIM Allelic Variant:164780.0006	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.347G>A (p.Gly116Glu)	6497	SKI	Pathogenic	387907303	RCV000030816;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160552	2160552	NM_003036.3:c.347G>A	NP_003027.1:p.Gly116Glu	NC_000001.10:g.2160552G>A	OMIM Allelic Variant:164780.0001	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.349G>C (p.Gly117Arg)	6497	SKI	Pathogenic	869312901	RCV000210472;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160554	2160554	NM_003036.3:c.349G>C	NP_003027.1:p.Gly117Arg	NC_000001.10:g.2160554G>C	-	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.352G>A (p.Glu118Lys)	6497	SKI	Likely pathogenic	869025525	RCV000208203;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2160557	2160557	NM_003036.3:c.352G>A	NP_003027.1:p.Glu118Lys	NC_000001.10:g.2160557G>A	-	C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.1163C>T (p.Ala388Val)	6497	SKI	Benign;Likely benign	75280988	RCV000204037; RCV000198871;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002; MedGen:CN169374	1	2234791	2234791	NM_003036.3:c.1163C>T	NP_003027.1:p.Ala388Val	NC_000001.10:g.2234791C>T	-	CN169374 not specified; C1321551 182212 Shprintzen-Goldberg syndrome
NM_003036.3(SKI):c.1258G>A (p.Ala420Thr)	6497	SKI	Uncertain significance	771862077	RCV000205977;	N	MedGen:C1321551,OMIM:182212,ORPHA:2462,SNOMED CT:83092002	1	2235325	2235325	NM_003036.3:c.1258G>A	NP_003027.1:p.Ala420Thr	NC_000001.10:g.2235325G>A	-	C1321551 182212 Shprintzen-Goldberg syndrome