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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: Abnormalities, Multiple (D000015)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Intellectual Disability (D008607)
Parent Node: Nails, Malformed (D009264)
..Starting node ..Schinzel-Giedion syndrome (C536632)
Child Nodes:
Sister Nodes:
..Alopecia universalis onychodystrophy vitiligo (C537056)
..Ameloonychohypohidrotic syndrome (C538245)
..Anonychia congenita (C536377)
..Anonychia onychodystrophy (C536378)
..Anonychia with Flexural Pigmentation (C566278)
..Anonychia, Total, with Microcephaly (C564606)
..Anonychia-Ectrodactyly (C566277)
..Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..Basan syndrome (C537659)
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Cartwright Nelson Fryns syndrome (C535917)
..Curly hair-acral keratoderma-caries syndrome (C536220)
..Curly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Dermoodontodysplasia (C565103)
..Digitorenocerebral Syndrome (C563052)
..Double Nail for Fifth Toe (C565090)
..Gorlin Bushkell Jensen syndrome (C537289)
..Hereditary koilonychia (C537260)
..Hypospadias-Mental Retardation Syndrome (C563067)
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 (OMIM:614149)
..Oculotrichodysplasia (C564934)
..Onycholysis, Partial, with Scleronychia (C563503)
..Onychotrichodysplasia and neutropenia (C537752)
..Otoonychoperoneal Syndrome (C564912)
..Pili torti onychodysplasia (C537399)
..Pinheiro Freire-Maia Miranda syndrome (C537402)
..Propping Zerres syndrome (C538052)
..Santos Syndrome (C567819)
..Schinzel-Giedion syndrome (C536632)
..Steatocystoma multiplex with natal teeth (C537487)
..Teebi Kaurah syndrome (C536948)
..Temple-Baraitser Syndrome (C567516)
..Toenail Dystrophy, Isolated (C564384)
..Tonoki syndrome (C536967)
..Twenty-Nail Dystrophy (C562907)
..Ulna hypoplasia with mental retardation (C536934)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Witkop syndrome (C536736)
..Yellow Nail Syndrome (D056684) 1
..Zori Stalker Williams syndrome (C536728)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10019

Name:

Schinzel-Giedion syndrome

Definition:

Alternative IDs:

OMIM:269150

ParentIDs:

MESH:D000015|MESH:D006228|MESH:D008607|MESH:D009264|MESH:D019465

TreeNumbers:

C05.390.408/C536632 |C05.660.207/C536632 |C05.660.585.988.425/C536632 |C10.597.606.643/C536632 |C16.131.077/C536632 |C16.131.621.207/C536632 |C16.131.621.585.425/C536632 |C23.300.820/C536632 |C23.888.592.604.646/C536632 |F03.550.600/C536632

Synonyms:

Schinzel Giedion midface-retraction syndrome |Schinzel-Giedion Midface Retraction Syndrome |Schinzel-Giedion Midface-Retraction Syndrome |Schinzel Giedion syndrome |SGS

Slim Mappings:

Reference:

MedGen: C536632
MeSH: C536632
OMIM: 269150;

Genes: SETBP1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001739	Abnormal nasopharynx morphology
3	HP:0000463	Anteverted nares
4	HP:0009104	Aplasia/Hypoplasia of the pubic bone
5	HP:0001631	Atrial septal defect
6	HP:0000813	Bicornuate uterus
7	HP:0000885	Broad ribs
8	HP:0002059	Cerebral atrophy
9	HP:0000452	Choanal stenosis
10	HP:0000280	Coarse facial features
11	HP:0005280	Depressed nasal bridge
12	HP:0000329	Facial hemangioma
13	HP:0001508	Failure to thrive
14	HP:0002884	Hepatoblastoma
15	HP:0000348	High forehead
16	HP:0000126	Hydronephrosis
17	HP:0000072	Hydroureter
18	HP:0001795	Hyperconvex nail
19	HP:0000316	Hypertelorism
20	HP:0000998	Hypertrichosis
21	HP:0006657	Hypoplasia of first ribs
22	HP:0002079	Hypoplasia of the corpus callosum
23	HP:0000059	Hypoplastic labia majora
24	HP:0000064	Hypoplastic labia minora
25	HP:0002557	Hypoplastic nipples
26	HP:0000047	Hypospadias
27	HP:0002521	Hypsarrhythmia
28	HP:0006392	Increased density of long bones
29	HP:0001249	Intellectual disability
30	HP:0000890	Long clavicles
31	HP:0000369	Low-set ears
32	HP:0000158	Macroglossia
33	HP:0000272	Malar flattening
34	HP:0005495	Metopic suture patent to nasal root
35	HP:0000054	Micropenis
36	HP:0011800	Midface retrusion
37	HP:0002179	Opisthotonus
38	HP:0001162	Postaxial hand polydactyly
39	HP:0008897	Postnatal growth retardation
40	HP:0011220	Prominent forehead
41	HP:0030736	Sacrococcygeal teratoma
42	HP:0002694	Sclerosis of skull base
43	HP:0000046	Scrotal hypoplasia
44	HP:0001250	Seizure
45	HP:0000586	Shallow orbits
46	HP:0010034	Short 1st metacarpal
47	HP:0009882	Short distal phalanx of finger
48	HP:0000470	Short neck
49	HP:0003196	Short nose
50	HP:0000879	Short sternum
51	HP:0000954	Single transverse palmar crease
52	HP:0000340	Sloping forehead
53	HP:0001762	Talipes equinovarus
54	HP:0009792	Teratoma
55	HP:0000935	Thickened cortex of long bones
56	HP:0002982	Tibial bowing
57	HP:0000071	Ureteral stenosis
58	HP:0002119	Ventriculomegaly
59	HP:0006387	Wide distal femoral metaphysis
60	HP:0004492	Widely patent fontanelles and sutures
61	HP:0002645	Wormian bones

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_015559.2(SETBP1):c.46G>A (p.Glu16Lys)	26040	SETBP1	Uncertain significance	587784381	RCV000147470;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42281357	42281357	NM_015559.2:c.46G>A	NP_056374.2:p.Glu16Lys	NC_000018.9:g.42281357G>A	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.1223C>G (p.Ala408Gly)	26040	SETBP1	Uncertain significance	587784380	RCV000147455;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42530528	42530528	NM_015559.2:c.1223C>G	NP_056374.2:p.Ala408Gly	NC_000018.9:g.42530528C>G	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.1503C>T (p.Pro501=)	26040	SETBP1	Uncertain significance	374300895	RCV000147456;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42530808	42530808	NM_015559.2:c.1503C>T	NP_056374.2:p.Pro501=	NC_000018.9:g.42530808C>T	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.1821delC (p.Ser608Alafs)	26040	SETBP1	Pathogenic	797045952	RCV000192674;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531126	42531126	NM_015559.2:c.1821delC	NP_056374.2:p.Ser608Alafs	NC_000018.9:g.42531126delC	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.1932C>T (p.Ser644=)	26040	SETBP1	Uncertain significance	3744824	RCV000147457;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531237	42531237	NM_015559.2:c.1932C>T	NP_056374.2:p.Ser644=	NC_000018.9:g.42531237C>T	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.2602G>A (p.Asp868Asn)	26040	SETBP1	Pathogenic	267607042	RCV000001087;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531907	42531907	NM_015559.2:c.2602G>A	NP_056374.2:p.Asp868Asn	NC_000018.9:g.42531907G>A,NC_000018.9:g.42531907G>C	OMIM Allelic Variant:611060.0002	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.2602G>C (p.Asp868His)	26040	SETBP1	Likely pathogenic	267607042	RCV000147458;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531907	42531907	NM_015559.2:c.2602G>C	NP_056374.2:p.Asp868His	NC_000018.9:g.42531907G>A,NC_000018.9:g.42531907G>C	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.2603A>C (p.Asp868Ala)	26040	SETBP1	Pathogenic	267607041	RCV000001088;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531908	42531908	NM_015559.2:c.2603A>C	NP_056374.2:p.Asp868Ala	NC_000018.9:g.42531908A>C	OMIM Allelic Variant:611060.0003	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.2608G>A (p.Gly870Ser)	26040	SETBP1	Pathogenic	267607040	RCV000001090;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531913	42531913	NM_015559.2:c.2608G>A	NP_056374.2:p.Gly870Ser	NC_000018.9:g.42531913G>A	OMIM Allelic Variant:611060.0005	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.2609G>A (p.Gly870Asp)	26040	SETBP1	Pathogenic	267607039	RCV000001089;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531914	42531914	NM_015559.2:c.2609G>A	NP_056374.2:p.Gly870Asp	NC_000018.9:g.42531914G>A	OMIM Allelic Variant:611060.0004	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.2612T>C (p.Ile871Thr)	26040	SETBP1	Pathogenic	267607038	RCV000001086;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42531917	42531917	NM_015559.2:c.2612T>C	NP_056374.2:p.Ile871Thr	NC_000018.9:g.42531917T>C	OMIM Allelic Variant:611060.0001	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.3825A>C (p.Ser1275=)	26040	SETBP1	Uncertain significance	8096662	RCV000147461;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42533130	42533130	NM_015559.2:c.3825A>C	NP_056374.2:p.Ser1275=	NC_000018.9:g.42533130A>C,NC_000018.9:g.42533130A>G,NC_000018.9:g.42533130A>T	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.3825A>T (p.Ser1275=)	26040	SETBP1	Uncertain significance	8096662	RCV000147463;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42533130	42533130	NM_015559.2:c.3825A>T	NP_056374.2:p.Ser1275=	NC_000018.9:g.42533130A>C,NC_000018.9:g.42533130A>G,NC_000018.9:g.42533130A>T	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.4398G>T (p.Glu1466Asp)	26040	SETBP1	Likely benign	117498128	RCV000147467;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42643270	42643270	NM_015559.2:c.4398G>T	NP_056374.2:p.Glu1466Asp	NC_000018.9:g.42643270G>T	-	C1849294 269150 Schinzel-Giedion syndrome
NM_015559.2(SETBP1):c.4554G>A (p.Glu1518=)	26040	SETBP1	Uncertain significance	574196735	RCV000147468;	N	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	18	42643426	42643426	NM_015559.2:c.4554G>A	NP_056374.2:p.Glu1518=	NC_000018.9:g.42643426G>A	-	C1849294 269150 Schinzel-Giedion syndrome