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 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 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: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 109)
id Description HPO Frequency HPO Source Accession
1 abnormality of female external genitalia64 hallmark (90%) HP:0000055
2 vesicoureteral reflux64 hallmark (90%) HP:0000076
3 malar flattening64 hallmark (90%) HP:0000272
4 coarse facial features64 hallmark (90%) HP:0000280
5 hypertelorism64 hallmark (90%) HP:0000316
6 narrow forehead64 hallmark (90%) HP:0000341
7 low-set, posteriorly rotated ears64 hallmark (90%) HP:0000368
8 abnormality of the pinna64 hallmark (90%) HP:0000377
9 sensorineural hearing impairment64 hallmark (90%) HP:0000407
10 anteverted nares64 hallmark (90%) HP:0000463
11 short neck64 hallmark (90%) HP:0000470
12 visual impairment64 hallmark (90%) HP:0000505
13 seizures64 hallmark (90%) HP:0001250
14 hypertonia64 hallmark (90%) HP:0001276
15 frontal bossing64 hallmark (90%) HP:0002007
16 short nose64 hallmark (90%) HP:0003196
17 hypoplasia of penis64 hallmark (90%) HP:0008736
18 periorbital edema64 hallmark (90%) HP:0100539
19 cognitive impairment64 hallmark (90%) HP:0100543
20 displacement of the external urethral meatus64 hallmark (90%) HP:0100627
21 cryptorchidism64 typical (50%) HP:0000028
22 abnormality of the tongue64 typical (50%) HP:0000157
23 microcephaly64 typical (50%) HP:0000252
24 choanal atresia64 typical (50%) HP:0000453
25 thickened nuchal skin fold64 typical (50%) HP:0000474
26 proptosis64 typical (50%) HP:0000520
27 abnormality of the ribs64 typical (50%) HP:0000772
28 abnormality of pelvic girdle bone morphology64 typical (50%) HP:0002644
29 abnormal cortical bone morphology64 typical (50%) HP:0003103
30 decreased skull ossification64 typical (50%) HP:0004331
31 abnormality of bone mineral density64 typical (50%) HP:0004348
32 depressed nasal bridge64 typical (50%) HP:0005280
33 bowing of the long bones64 typical (50%) HP:0006487
34 short distal phalanx of finger64 typical (50%) HP:0009882
35 micrognathia64 occasional (7.5%) HP:0000347
36 microcornea64 occasional (7.5%) HP:0000482
37 strabismus64 occasional (7.5%) HP:0000486
38 alacrima64 occasional (7.5%) HP:0000522
39 optic atrophy64 occasional (7.5%) HP:0000648
40 hypothyroidism64 occasional (7.5%) HP:0000821
41 abnormality of the clavicle64 occasional (7.5%) HP:0000889
42 hypertrichosis64 occasional (7.5%) HP:0000998
43 hand polydactyly64 occasional (7.5%) HP:0001161
44 abnormality of the metacarpal bones64 occasional (7.5%) HP:0001163
45 abnormality of the fingernails64 occasional (7.5%) HP:0001231
46 muscular hypotonia64 occasional (7.5%) HP:0001252
47 polyhydramnios64 occasional (7.5%) HP:0001561
48 laryngomalacia64 occasional (7.5%) HP:0001601
49 short foot64 occasional (7.5%) HP:0001773
50 rocker bottom foot64 occasional (7.5%) HP:0001838
51 talipes64 occasional (7.5%) HP:0001883
52 ventriculomegaly64 occasional (7.5%) HP:0002119
53 wormian bones64 occasional (7.5%) HP:0002645
54 scoliosis64 occasional (7.5%) HP:0002650
55 radioulnar synostosis64 occasional (7.5%) HP:0002974
56 micromelia64 occasional (7.5%) HP:0002983
57 short palm64 occasional (7.5%) HP:0004279
58 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
59 opacification of the corneal stroma64 occasional (7.5%) HP:0007759
60 presacral teratoma64 occasional (7.5%) HP:0009793
61 camptodactyly of finger64 occasional (7.5%) HP:0100490
62 megacalicosis64 occasional (7.5%) HP:0100581
63 scrotal hypoplasia64 HP:0000046
64 hypospadias64 HP:0000047
65 micropenis64 HP:0000054
66 hypoplastic labia majora64 HP:0000059
67 hypoplastic labia minora64 HP:0000064
68 ureteral stenosis64 HP:0000071
69 hydroureter64 HP:0000072
70 hydronephrosis64 HP:0000126
71 macroglossia64 HP:0000158
72 facial hemangioma64 HP:0000329
73 sloping forehead64 HP:0000340
74 high forehead64 HP:0000348
75 low-set ears64 HP:0000369
76 choanal stenosis64 HP:0000452
77 shallow orbits64 HP:0000586
78 bicornuate uterus64 HP:0000813
79 short sternum64 HP:0000879
80 broad ribs64 HP:0000885
81 long clavicles64 HP:0000890
82 thickened cortex of long bones64 HP:0000935
83 single transverse palmar crease64 HP:0000954
84 postaxial hand polydactyly64 HP:0001162
85 intellectual disability64 HP:0001249
86 failure to thrive64 HP:0001508
87 atria septal defect64 HP:0001631
88 abnormality of the nasopharynx64 HP:0001739
89 talipes equinovarus64 HP:0001762
90 hyperconvex nail64 HP:0001795
91 cerebral atrophy64 HP:0002059
92 hypoplasia of the corpus callosum64 HP:0002079
93 opisthotonus64 HP:0002179
94 hypsarrhythmia64 HP:0002521
95 hypoplastic nipples64 HP:0002557
96 sclerosis of skull base64 HP:0002694
97 hepatoblastoma64 HP:0002884
98 tibial bowing64 HP:0002982
99 widely patent fontanelles and sutures64 HP:0004492
100 metopic suture patent to nasal root64 HP:0005495
101 wide distal femoral metaphysis64 HP:0006387
102 increased density of long bones64 HP:0006392
103 hypoplasia of first ribs64 HP:0006657
104 postnatal growth retardation64 HP:0008897
105 aplasia/hypoplasia of the pubic bone64 HP:0009104
106 teratoma64 HP:0009792
107 short 1st metacarpal64 HP:0010034
108 prominent forehead64 HP:0011220
109 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, Tongue, Uterus, Skin, 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)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
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