MCID: SCH037
MIFTS: 21

Schinzel-Giedion Midface Retraction Syndrome 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 50 23 68 12
 
Sgmfs 68

Characteristics:

HPO:

62
schinzel-giedion midface retraction syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 269150

Summaries for Schinzel-Giedion Midface Retraction Syndrome

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OMIM:50 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 abnormality of female external genitalia, vesicoureteral reflux and malar flattening. An important gene associated with Schinzel-Giedion Midface Retraction Syndrome is SETBP1 (SET Binding Protein 1). Affiliated tissues include bone, tongue and uterus.

UniProtKB/Swiss-Prot:68 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 syndrome11.7

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 121)
id Description Frequency HPO Source Accession
1 abnormality of female external genitalia hallmark (90%) HP:0000055
2 vesicoureteral reflux hallmark (90%) HP:0000076
3 malar flattening hallmark (90%) HP:0000272
4 coarse facial features hallmark (90%) HP:0000280
5 hypertelorism hallmark (90%) HP:0000316
6 narrow forehead hallmark (90%) HP:0000341
7 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
8 abnormality of the pinna hallmark (90%) HP:0000377
9 sensorineural hearing impairment hallmark (90%) HP:0000407
10 anteverted nares hallmark (90%) HP:0000463
11 short neck hallmark (90%) HP:0000470
12 visual impairment hallmark (90%) HP:0000505
13 seizures hallmark (90%) HP:0001250
14 hypertonia hallmark (90%) HP:0001276
15 frontal bossing hallmark (90%) HP:0002007
16 short nose hallmark (90%) HP:0003196
17 hypoplasia of penis hallmark (90%) HP:0008736
18 periorbital edema hallmark (90%) HP:0100539
19 cognitive impairment hallmark (90%) HP:0100543
20 displacement of the external urethral meatus hallmark (90%) HP:0100627
21 cryptorchidism typical (50%) HP:0000028
22 abnormality of the tongue typical (50%) HP:0000157
23 microcephaly typical (50%) HP:0000252
24 choanal atresia typical (50%) HP:0000453
25 thickened nuchal skin fold typical (50%) HP:0000474
26 proptosis typical (50%) HP:0000520
27 abnormality of the ribs typical (50%) HP:0000772
28 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
29 abnormal cortical bone morphology typical (50%) HP:0003103
30 decreased skull ossification typical (50%) HP:0004331
31 abnormality of bone mineral density typical (50%) HP:0004348
32 depressed nasal bridge typical (50%) HP:0005280
33 bowing of the long bones typical (50%) HP:0006487
34 short distal phalanx of finger typical (50%) HP:0009882
35 micrognathia occasional (7.5%) HP:0000347
36 microcornea occasional (7.5%) HP:0000482
37 strabismus occasional (7.5%) HP:0000486
38 alacrima occasional (7.5%) HP:0000522
39 optic atrophy occasional (7.5%) HP:0000648
40 hypothyroidism occasional (7.5%) HP:0000821
41 abnormality of the clavicle occasional (7.5%) HP:0000889
42 hypertrichosis occasional (7.5%) HP:0000998
43 hand polydactyly occasional (7.5%) HP:0001161
44 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
45 abnormality of the fingernails occasional (7.5%) HP:0001231
46 muscular hypotonia occasional (7.5%) HP:0001252
47 polyhydramnios occasional (7.5%) HP:0001561
48 laryngomalacia occasional (7.5%) HP:0001601
49 short foot occasional (7.5%) HP:0001773
50 rocker bottom foot occasional (7.5%) HP:0001838
51 talipes occasional (7.5%) HP:0001883
52 ventriculomegaly occasional (7.5%) HP:0002119
53 wormian bones occasional (7.5%) HP:0002645
54 scoliosis occasional (7.5%) HP:0002650
55 radioulnar synostosis occasional (7.5%) HP:0002974
56 micromelia occasional (7.5%) HP:0002983
57 short palm occasional (7.5%) HP:0004279
58 hernia of the abdominal wall occasional (7.5%) HP:0004299
59 opacification of the corneal stroma occasional (7.5%) HP:0007759
60 presacral teratoma occasional (7.5%) HP:0009793
61 camptodactyly of finger occasional (7.5%) HP:0100490
62 megacalicosis occasional (7.5%) HP:0100581
63 scrotal hypoplasia HP:0000046
64 hypospadias HP:0000047
65 micropenis HP:0000054
66 hypoplastic labia majora HP:0000059
67 hypoplastic labia minora HP:0000064
68 ureteral stenosis HP:0000071
69 hydroureter HP:0000072
70 hydronephrosis HP:0000126
71 macroglossia HP:0000158
72 malar flattening HP:0000272
73 coarse facial features HP:0000280
74 hypertelorism HP:0000316
75 facial hemangioma HP:0000329
76 sloping forehead HP:0000340
77 high forehead HP:0000348
78 low-set ears HP:0000369
79 choanal stenosis HP:0000452
80 anteverted nares HP:0000463
81 short neck HP:0000470
82 shallow orbits HP:0000586
83 bicornuate uterus HP:0000813
84 short sternum HP:0000879
85 broad ribs HP:0000885
86 long clavicles HP:0000890
87 thickened cortex of long bones HP:0000935
88 single transverse palmar crease HP:0000954
89 hypertrichosis HP:0000998
90 postaxial hand polydactyly HP:0001162
91 intellectual disability HP:0001249
92 seizures HP:0001250
93 failure to thrive HP:0001508
94 atria septal defect HP:0001631
95 abnormality of the nasopharynx HP:0001739
96 talipes equinovarus HP:0001762
97 hyperconvex nail HP:0001795
98 cerebral atrophy HP:0002059
99 hypoplasia of the corpus callosum HP:0002079
100 ventriculomegaly HP:0002119
101 opisthotonus HP:0002179
102 hypsarrhythmia HP:0002521
103 hypoplastic nipples HP:0002557
104 wormian bones HP:0002645
105 sclerosis of skull base HP:0002694
106 hepatoblastoma HP:0002884
107 tibial bowing HP:0002982
108 short nose HP:0003196
109 widely patent fontanelles and sutures HP:0004492
110 depressed nasal bridge HP:0005280
111 metopic suture patent to nasal root HP:0005495
112 wide distal femoral metaphysis HP:0006387
113 increased density of long bones HP:0006392
114 hypoplasia of first ribs HP:0006657
115 postnatal growth retardation HP:0008897
116 aplasia/hypoplasia of the pubic bone HP:0009104
117 teratoma HP:0009792
118 short distal phalanx of finger HP:0009882
119 short 1st metacarpal HP:0010034
120 prominent forehead HP:0011220
121 midface retrusion 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 Syndrome23 SETBP1

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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

34
Bone, Tongue, Uterus, Skin, Cortex

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:

68
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)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
6SETBP1NM_015559.2(SETBP1): c.2602G> C (p.Asp868His)single nucleotide variantLikely pathogenicrs267607042GRCh38Chr 18, 44951942: 44951942
7SETBP1NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs)deletionPathogenicrs797045952GRCh38Chr 18, 44951161: 44951161

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet