SGMFS
MCID: SCH037
MIFTS: 19

Schinzel-Giedion Midface Retraction Syndrome (SGMFS) malady

Categories: Genetic diseases

Aliases & Classifications for Schinzel-Giedion Midface Retraction Syndrome

Aliases & Descriptions for Schinzel-Giedion Midface Retraction Syndrome:

Name: Schinzel-Giedion Midface Retraction Syndrome 54 24 66 13
Sgmfs 66

Characteristics:

HPO:

32
schinzel-giedion midface retraction syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 269150

Summaries for Schinzel-Giedion Midface Retraction Syndrome

OMIM : 54 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 seizures, opisthotonus and malar flattening. 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 schinzel giedion syndrome 11.6

Symptoms & Phenotypes for Schinzel-Giedion Midface Retraction Syndrome

Symptoms by clinical synopsis from OMIM:

269150

Clinical features from OMIM:

269150

Human phenotypes related to Schinzel-Giedion Midface Retraction Syndrome:

32 (show top 50) (show all 59)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 opisthotonus 32 HP:0002179
3 malar flattening 32 HP:0000272
4 hypertelorism 32 HP:0000316
5 low-set ears 32 HP:0000369
6 short neck 32 HP:0000470
7 intellectual disability 32 HP:0001249
8 failure to thrive 32 HP:0001508
9 macroglossia 32 HP:0000158
10 coarse facial features 32 HP:0000280
11 depressed nasal bridge 32 HP:0005280
12 short nose 32 HP:0003196
13 anteverted nares 32 HP:0000463
14 prominent forehead 32 HP:0011220
15 broad ribs 32 HP:0000885
16 wormian bones 32 HP:0002645
17 postnatal growth retardation 32 HP:0008897
18 ventriculomegaly 32 HP:0002119
19 hypospadias 32 HP:0000047
20 talipes equinovarus 32 HP:0001762
21 high forehead 32 HP:0000348
22 midface retrusion 32 HP:0011800
23 short distal phalanx of finger 32 HP:0009882
24 hydronephrosis 32 HP:0000126
25 hepatoblastoma 32 HP:0002884
26 postaxial hand polydactyly 32 HP:0001162
27 hydroureter 32 HP:0000072
28 sloping forehead 32 HP:0000340
29 scrotal hypoplasia 32 HP:0000046
30 hypoplastic labia majora 32 HP:0000059
31 hypoplastic nipples 32 HP:0002557
32 short 1st metacarpal 32 HP:0010034
33 hypoplasia of the corpus callosum 32 HP:0002079
34 micropenis 32 HP:0000054
35 choanal stenosis 32 HP:0000452
36 single transverse palmar crease 32 HP:0000954
37 cerebral atrophy 32 HP:0002059
38 bicornuate uterus 32 HP:0000813
39 ureteral stenosis 32 HP:0000071
40 hypsarrhythmia 32 HP:0002521
41 tibial bowing 32 HP:0002982
42 hyperconvex nail 32 HP:0001795
43 facial hemangioma 32 HP:0000329
44 hypertrichosis 32 HP:0000998
45 widely patent fontanelles and sutures 32 HP:0004492
46 thickened cortex of long bones 32 HP:0000935
47 teratoma 32 HP:0009792
48 shallow orbits 32 HP:0000586
49 hypoplastic labia minora 32 HP:0000064
50 atrial septal defect 32 HP:0001631

Drugs & Therapeutics for Schinzel-Giedion Midface Retraction Syndrome

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

Genetic Tests for Schinzel-Giedion Midface Retraction Syndrome

Genetic tests related to Schinzel-Giedion Midface Retraction Syndrome:

id Genetic test Affiliating Genes
1 Schinzel-Giedion Midface Retraction Syndrome 24 SETBP1

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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

39
Bone, Uterus, Cortex

Publications for Schinzel-Giedion Midface Retraction Syndrome

Variations for Schinzel-Giedion Midface Retraction Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 SETBP1 p.Asp868Ala VAR_063806 rs267607041
2 SETBP1 p.Asp868Asn VAR_063807 rs267607042
3 SETBP1 p.Gly870Asp VAR_063808 rs267607039
4 SETBP1 p.Gly870Ser VAR_063809 rs267607040
5 SETBP1 p.Ile871Thr VAR_063810 rs267607038

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SETBP1 NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr) single nucleotide variant Pathogenic rs267607038 GRCh37 Chromosome 18, 42531917: 42531917
2 SETBP1 NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn) single nucleotide variant Pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
3 SETBP1 NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh37 Chromosome 18, 42531908: 42531908
4 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh37 Chromosome 18, 42531914: 42531914
5 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh37 Chromosome 18, 42531913: 42531913
6 SETBP1 NM_015559.2(SETBP1): c.2602G> C (p.Asp868His) single nucleotide variant Likely pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
7 SETBP1 NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs) deletion Pathogenic rs797045952 GRCh37 Chromosome 18, 42531126: 42531126

Expression for Schinzel-Giedion Midface Retraction Syndrome

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

Pathways for Schinzel-Giedion Midface Retraction Syndrome

GO Terms for Schinzel-Giedion Midface Retraction Syndrome

Sources for Schinzel-Giedion Midface Retraction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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