MCID: SCH037
MIFTS: 19

Schinzel-Giedion Midface Retraction Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Schinzel-Giedion Midface Retraction Syndrome

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Schinzel-Giedion Midface Retraction Syndrome, Aliases & Descriptions:

Name: Schinzel-Giedion Midface Retraction Syndrome 45 10
 
Schinzel Giedion Midface-Retraction Syndrome 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 269150

Summaries for Schinzel-Giedion Midface Retraction Syndrome

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OMIM:45 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 schinzel giedion midface-retraction syndrome, is related to schinzel giedion syndrome, and has symptoms including autosomal dominant inheritance, scrotal hypoplasia and hypospadias. An important gene associated with Schinzel-Giedion Midface Retraction Syndrome is SETBP1 (SET binding protein 1). Affiliated tissues include bone, cortex and uterus.

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 syndrome10.7

Symptoms for Schinzel-Giedion Midface Retraction Syndrome

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Symptoms by clinical synopsis from OMIM:

269150

Clinical features from OMIM:

269150

HPO human phenotypes related to Schinzel-Giedion Midface Retraction Syndrome:

(show all 60)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 scrotal hypoplasia HP:0000046
3 hypospadias HP:0000047
4 micropenis HP:0000054
5 hypoplastic labia majora HP:0000059
6 hypoplastic labia minora HP:0000064
7 ureteral stenosis HP:0000071
8 hydroureter HP:0000072
9 hydronephrosis HP:0000126
10 macroglossia HP:0000158
11 malar flattening HP:0000272
12 coarse facial features HP:0000280
13 hypertelorism HP:0000316
14 facial hemangioma HP:0000329
15 sloping forehead HP:0000340
16 high forehead HP:0000348
17 low-set ears HP:0000369
18 choanal stenosis HP:0000452
19 anteverted nares HP:0000463
20 short neck HP:0000470
21 shallow orbits HP:0000586
22 bicornuate uterus HP:0000813
23 short sternum HP:0000879
24 broad ribs HP:0000885
25 long clavicles HP:0000890
26 thickened cortex of long bones HP:0000935
27 single transverse palmar crease HP:0000954
28 hypertrichosis HP:0000998
29 postaxial hand polydactyly HP:0001162
30 intellectual disability HP:0001249
31 seizures HP:0001250
32 failure to thrive HP:0001508
33 defect in the atrial septum HP:0001631
34 abnormality of the nasopharynx HP:0001739
35 talipes equinovarus HP:0001762
36 hyperconvex nail HP:0001795
37 cerebral atrophy HP:0002059
38 hypoplasia of the corpus callosum HP:0002079
39 ventriculomegaly HP:0002119
40 opisthotonus HP:0002179
41 hypsarrhythmia HP:0002521
42 hypoplastic nipples HP:0002557
43 wormian bones HP:0002645
44 sclerosis of skull base HP:0002694
45 hepatoblastoma HP:0002884
46 tibial bowing HP:0002982
47 short nose HP:0003196
48 widely patent fontanelles and sutures HP:0004492
49 depressed nasal bridge HP:0005280
50 metopic suture patent to nasal root HP:0005495
51 wide distal femoral metaphysis HP:0006387
52 increased density of long bones HP:0006392
53 hypoplasia of first ribs HP:0006657
54 postnatal growth retardation HP:0008897
55 aplasia/hypoplasia of the pubic bone HP:0009104
56 teratoma HP:0009792
57 short distal phalanx of finger HP:0009882
58 short 1st metacarpal HP:0010034
59 prominent forehead HP:0011220
60 midface retrusion HP:0011800

Drugs & Therapeutics for Schinzel-Giedion Midface Retraction Syndrome

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Drug clinical trials:

Search ClinicalTrials for Schinzel-Giedion Midface Retraction Syndrome

Search 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 Syndrome20 SETBP1

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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

31
Bone, Cortex, Uterus

Animal Models for Schinzel-Giedion Midface Retraction Syndrome or affiliated genes

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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:

62
id Symbol AA change Variation ID SNP ID
1SETBP1p.Asp868AlaVAR_063806
2SETBP1p.Asp868AsnVAR_063807
3SETBP1p.Gly870AspVAR_063808
4SETBP1p.Gly870SerVAR_063809
5SETBP1p.Ile871ThrVAR_063810

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1SETBP1NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr)single nucleotide variantPathogenicrs267607038GRCh37Chr 18, 42531917: 42531917
2SETBP1NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn)single nucleotide variantPathogenicrs267607042GRCh37Chr 18, 42531907: 42531907
3SETBP1NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala)single nucleotide variantPathogenicrs267607041GRCh37Chr 18, 42531908: 42531908
4SETBP1NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp)single nucleotide variantPathogenicrs267607039GRCh37Chr 18, 42531914: 42531914
5SETBP1NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser)single nucleotide variantPathogenicrs267607040GRCh37Chr 18, 42531913: 42531913

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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Compounds 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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Products for genes affiliated with Schinzel-Giedion Midface Retraction Syndrome

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  • Antibodies
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  • Kits and Assays

Sources for Schinzel-Giedion Midface Retraction Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet