SGMFS
MCID: SCH037
MIFTS: 19

Schinzel-Giedion Midface Retraction Syndrome (SGMFS) malady

Category: Genetic diseases (common)

Aliases & Classifications for Schinzel-Giedion Midface Retraction Syndrome

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Aliases & Descriptions for Schinzel-Giedion Midface Retraction Syndrome:

Name: Schinzel-Giedion Midface Retraction Syndrome 52 24 70 12
 
Sgmfs 70

Characteristics:

HPO:

64
schinzel-giedion midface retraction syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 269150

Summaries for Schinzel-Giedion Midface Retraction Syndrome

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OMIM:52 Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive... (269150) more...

MalaCards based summary: Schinzel-Giedion Midface Retraction Syndrome, also known as SGMFS, is related to schinzel giedion syndrome, and has symptoms including scrotal hypoplasia, hypospadias and micropenis. An important gene associated with Schinzel-Giedion Midface Retraction Syndrome is SETBP1 (SET Binding Protein 1). Affiliated tissues include bone, uterus and cortex.

UniProtKB/Swiss-Prot:70 Schinzel-Giedion midface retraction syndrome: A disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.

Related Diseases for Schinzel-Giedion Midface Retraction Syndrome

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Diseases related to Schinzel-Giedion Midface Retraction Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1schinzel giedion syndrome11.6

Symptoms & Phenotypes for Schinzel-Giedion Midface Retraction Syndrome

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Symptoms by clinical synopsis from OMIM:

269150

Clinical features from OMIM:

269150

Human phenotypes related to Schinzel-Giedion Midface Retraction Syndrome:

 64 (show all 59)
id Description HPO Frequency HPO Source Accession
1 scrotal hypoplasia64 HP:0000046
2 hypospadias64 HP:0000047
3 micropenis64 HP:0000054
4 hypoplastic labia majora64 HP:0000059
5 hypoplastic labia minora64 HP:0000064
6 ureteral stenosis64 HP:0000071
7 hydroureter64 HP:0000072
8 hydronephrosis64 HP:0000126
9 macroglossia64 HP:0000158
10 malar flattening64 HP:0000272
11 coarse facial features64 HP:0000280
12 hypertelorism64 HP:0000316
13 facial hemangioma64 HP:0000329
14 sloping forehead64 HP:0000340
15 high forehead64 HP:0000348
16 low-set ears64 HP:0000369
17 choanal stenosis64 HP:0000452
18 anteverted nares64 HP:0000463
19 short neck64 HP:0000470
20 shallow orbits64 HP:0000586
21 bicornuate uterus64 HP:0000813
22 short sternum64 HP:0000879
23 broad ribs64 HP:0000885
24 long clavicles64 HP:0000890
25 thickened cortex of long bones64 HP:0000935
26 single transverse palmar crease64 HP:0000954
27 hypertrichosis64 HP:0000998
28 postaxial hand polydactyly64 HP:0001162
29 intellectual disability64 HP:0001249
30 seizures64 HP:0001250
31 failure to thrive64 HP:0001508
32 atrial septal defect64 HP:0001631
33 abnormality of the nasopharynx64 HP:0001739
34 talipes equinovarus64 HP:0001762
35 hyperconvex nail64 HP:0001795
36 cerebral atrophy64 HP:0002059
37 hypoplasia of the corpus callosum64 HP:0002079
38 ventriculomegaly64 HP:0002119
39 opisthotonus64 HP:0002179
40 hypsarrhythmia64 HP:0002521
41 hypoplastic nipples64 HP:0002557
42 wormian bones64 HP:0002645
43 sclerosis of skull base64 HP:0002694
44 hepatoblastoma64 HP:0002884
45 tibial bowing64 HP:0002982
46 short nose64 HP:0003196
47 widely patent fontanelles and sutures64 HP:0004492
48 depressed nasal bridge64 HP:0005280
49 metopic suture patent to nasal root64 HP:0005495
50 wide distal femoral metaphysis64 HP:0006387
51 increased density of long bones64 HP:0006392
52 hypoplasia of first ribs64 HP:0006657
53 postnatal growth retardation64 HP:0008897
54 aplasia/hypoplasia of the pubic bone64 HP:0009104
55 teratoma64 HP:0009792
56 short distal phalanx of finger64 HP:0009882
57 short 1st metacarpal64 HP:0010034
58 prominent forehead64 HP:0011220
59 midface retrusion64 HP:0011800

Drugs & Therapeutics for Schinzel-Giedion Midface Retraction Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Schinzel-Giedion Midface Retraction Syndrome

Genetic Tests for Schinzel-Giedion Midface Retraction Syndrome

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Genetic tests related to Schinzel-Giedion Midface Retraction Syndrome:

id Genetic test Affiliating Genes
1 Schinzel-Giedion Midface Retraction Syndrome24 SETBP1

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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MalaCards organs/tissues related to Schinzel-Giedion Midface Retraction Syndrome:

36
Bone, Uterus, Cortex

Publications for Schinzel-Giedion Midface Retraction Syndrome

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Variations for Schinzel-Giedion Midface Retraction Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Schinzel-Giedion Midface Retraction Syndrome:

70
id Symbol AA change Variation ID SNP ID
1SETBP1p.Asp868AlaVAR_063806rs267607041
2SETBP1p.Asp868AsnVAR_063807rs267607042
3SETBP1p.Gly870AspVAR_063808rs267607039
4SETBP1p.Gly870SerVAR_063809rs267607040
5SETBP1p.Ile871ThrVAR_063810rs267607038

Clinvar genetic disease variations for Schinzel-Giedion Midface Retraction Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SETBP1NM_ 015559.2(SETBP1): c.2612T> C (p.Ile871Thr)SNVPathogenicrs267607038GRCh37Chr 18, 42531917: 42531917
2SETBP1NM_ 015559.2(SETBP1): c.2602G> A (p.Asp868Asn)SNVPathogenicrs267607042GRCh37Chr 18, 42531907: 42531907
3SETBP1NM_ 015559.2(SETBP1): c.2603A> C (p.Asp868Ala)SNVPathogenicrs267607041GRCh37Chr 18, 42531908: 42531908
4SETBP1NM_ 015559.2(SETBP1): c.2609G> A (p.Gly870Asp)SNVPathogenicrs267607039GRCh37Chr 18, 42531914: 42531914
5SETBP1NM_ 015559.2(SETBP1): c.2608G> A (p.Gly870Ser)SNVPathogenicrs267607040GRCh37Chr 18, 42531913: 42531913
6SETBP1NM_ 015559.2(SETBP1): c.2602G> C (p.Asp868His)SNVLikely pathogenicrs267607042GRCh37Chr 18, 42531907: 42531907
7SETBP1NM_ 015559.2(SETBP1): c.1821delC (p.Ser608Alafs)deletionPathogenicrs797045952GRCh37Chr 18, 42531126: 42531126

Expression for genes affiliated with Schinzel-Giedion Midface Retraction Syndrome

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Search GEO for disease gene expression data for Schinzel-Giedion Midface Retraction Syndrome.

Pathways for genes affiliated with Schinzel-Giedion Midface Retraction Syndrome

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GO Terms for genes affiliated with Schinzel-Giedion Midface Retraction Syndrome

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Sources for Schinzel-Giedion Midface Retraction Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet