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 51 24 69 12
 
Sgmfs 69

Characteristics:

HPO:

63
schinzel-giedion midface retraction syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 269150

Summaries for Schinzel-Giedion Midface Retraction Syndrome

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OMIM:51 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:69 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 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:

 63 (show all 109)
id Description HPO Frequency HPO Source Accession
1 abnormality of female external genitalia63 hallmark (90%) HP:0000055
2 vesicoureteral reflux63 hallmark (90%) HP:0000076
3 malar flattening63 hallmark (90%) HP:0000272
4 coarse facial features63 hallmark (90%) HP:0000280
5 hypertelorism63 hallmark (90%) HP:0000316
6 narrow forehead63 hallmark (90%) HP:0000341
7 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
8 abnormality of the pinna63 hallmark (90%) HP:0000377
9 sensorineural hearing impairment63 hallmark (90%) HP:0000407
10 anteverted nares63 hallmark (90%) HP:0000463
11 short neck63 hallmark (90%) HP:0000470
12 visual impairment63 hallmark (90%) HP:0000505
13 seizures63 hallmark (90%) HP:0001250
14 hypertonia63 hallmark (90%) HP:0001276
15 frontal bossing63 hallmark (90%) HP:0002007
16 short nose63 hallmark (90%) HP:0003196
17 hypoplasia of penis63 hallmark (90%) HP:0008736
18 periorbital edema63 hallmark (90%) HP:0100539
19 cognitive impairment63 hallmark (90%) HP:0100543
20 displacement of the external urethral meatus63 hallmark (90%) HP:0100627
21 cryptorchidism63 typical (50%) HP:0000028
22 abnormality of the tongue63 typical (50%) HP:0000157
23 microcephaly63 typical (50%) HP:0000252
24 choanal atresia63 typical (50%) HP:0000453
25 thickened nuchal skin fold63 typical (50%) HP:0000474
26 proptosis63 typical (50%) HP:0000520
27 abnormality of the ribs63 typical (50%) HP:0000772
28 abnormality of pelvic girdle bone morphology63 typical (50%) HP:0002644
29 abnormal cortical bone morphology63 typical (50%) HP:0003103
30 decreased skull ossification63 typical (50%) HP:0004331
31 abnormality of bone mineral density63 typical (50%) HP:0004348
32 depressed nasal bridge63 typical (50%) HP:0005280
33 bowing of the long bones63 typical (50%) HP:0006487
34 short distal phalanx of finger63 typical (50%) HP:0009882
35 micrognathia63 occasional (7.5%) HP:0000347
36 microcornea63 occasional (7.5%) HP:0000482
37 strabismus63 occasional (7.5%) HP:0000486
38 alacrima63 occasional (7.5%) HP:0000522
39 optic atrophy63 occasional (7.5%) HP:0000648
40 hypothyroidism63 occasional (7.5%) HP:0000821
41 abnormality of the clavicle63 occasional (7.5%) HP:0000889
42 hypertrichosis63 occasional (7.5%) HP:0000998
43 hand polydactyly63 occasional (7.5%) HP:0001161
44 abnormality of the metacarpal bones63 occasional (7.5%) HP:0001163
45 abnormality of the fingernails63 occasional (7.5%) HP:0001231
46 muscular hypotonia63 occasional (7.5%) HP:0001252
47 polyhydramnios63 occasional (7.5%) HP:0001561
48 laryngomalacia63 occasional (7.5%) HP:0001601
49 short foot63 occasional (7.5%) HP:0001773
50 rocker bottom foot63 occasional (7.5%) HP:0001838
51 talipes63 occasional (7.5%) HP:0001883
52 ventriculomegaly63 occasional (7.5%) HP:0002119
53 wormian bones63 occasional (7.5%) HP:0002645
54 scoliosis63 occasional (7.5%) HP:0002650
55 radioulnar synostosis63 occasional (7.5%) HP:0002974
56 micromelia63 occasional (7.5%) HP:0002983
57 short palm63 occasional (7.5%) HP:0004279
58 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
59 opacification of the corneal stroma63 occasional (7.5%) HP:0007759
60 presacral teratoma63 occasional (7.5%) HP:0009793
61 camptodactyly of finger63 occasional (7.5%) HP:0100490
62 megacalicosis63 occasional (7.5%) HP:0100581
63 scrotal hypoplasia63 HP:0000046
64 hypospadias63 HP:0000047
65 micropenis63 HP:0000054
66 hypoplastic labia majora63 HP:0000059
67 hypoplastic labia minora63 HP:0000064
68 ureteral stenosis63 HP:0000071
69 hydroureter63 HP:0000072
70 hydronephrosis63 HP:0000126
71 macroglossia63 HP:0000158
72 facial hemangioma63 HP:0000329
73 sloping forehead63 HP:0000340
74 high forehead63 HP:0000348
75 low-set ears63 HP:0000369
76 choanal stenosis63 HP:0000452
77 shallow orbits63 HP:0000586
78 bicornuate uterus63 HP:0000813
79 short sternum63 HP:0000879
80 broad ribs63 HP:0000885
81 long clavicles63 HP:0000890
82 thickened cortex of long bones63 HP:0000935
83 single transverse palmar crease63 HP:0000954
84 postaxial hand polydactyly63 HP:0001162
85 intellectual disability63 HP:0001249
86 failure to thrive63 HP:0001508
87 atria septal defect63 HP:0001631
88 abnormality of the nasopharynx63 HP:0001739
89 talipes equinovarus63 HP:0001762
90 hyperconvex nail63 HP:0001795
91 cerebral atrophy63 HP:0002059
92 hypoplasia of the corpus callosum63 HP:0002079
93 opisthotonus63 HP:0002179
94 hypsarrhythmia63 HP:0002521
95 hypoplastic nipples63 HP:0002557
96 sclerosis of skull base63 HP:0002694
97 hepatoblastoma63 HP:0002884
98 tibial bowing63 HP:0002982
99 widely patent fontanelles and sutures63 HP:0004492
100 metopic suture patent to nasal root63 HP:0005495
101 wide distal femoral metaphysis63 HP:0006387
102 increased density of long bones63 HP:0006392
103 hypoplasia of first ribs63 HP:0006657
104 postnatal growth retardation63 HP:0008897
105 aplasia/hypoplasia of the pubic bone63 HP:0009104
106 teratoma63 HP:0009792
107 short 1st metacarpal63 HP:0010034
108 prominent forehead63 HP:0011220
109 midface retrusion63 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:

35
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:

69
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)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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet