MCID: SCH037
MIFTS: 26

Schinzel-Giedion Midface Retraction Syndrome malady

Genetic diseases (common) category

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 49 11 67
Schinzel Giedion Midface-Retraction Syndrome 22
 
Sgmfs 67


Classifications:



External Ids:

OMIM49 269150

Summaries for Schinzel-Giedion Midface Retraction Syndrome

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OMIM:49 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 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:67 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 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 123)
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 malformation of the heart and great vessels typical (50%) HP:0002564
29 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
30 abnormal cortical bone morphology typical (50%) HP:0003103
31 decreased skull ossification typical (50%) HP:0004331
32 abnormality of bone mineral density typical (50%) HP:0004348
33 depressed nasal bridge typical (50%) HP:0005280
34 bowing of the long bones typical (50%) HP:0006487
35 short distal phalanx of finger typical (50%) HP:0009882
36 micrognathia occasional (7.5%) HP:0000347
37 microcornea occasional (7.5%) HP:0000482
38 strabismus occasional (7.5%) HP:0000486
39 alacrima occasional (7.5%) HP:0000522
40 optic atrophy occasional (7.5%) HP:0000648
41 hypothyroidism occasional (7.5%) HP:0000821
42 abnormality of the clavicle occasional (7.5%) HP:0000889
43 hypertrichosis occasional (7.5%) HP:0000998
44 hand polydactyly occasional (7.5%) HP:0001161
45 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
46 abnormality of the fingernails occasional (7.5%) HP:0001231
47 muscular hypotonia occasional (7.5%) HP:0001252
48 polyhydramnios occasional (7.5%) HP:0001561
49 laryngomalacia occasional (7.5%) HP:0001601
50 short foot occasional (7.5%) HP:0001773
51 rocker bottom foot occasional (7.5%) HP:0001838
52 talipes occasional (7.5%) HP:0001883
53 ventriculomegaly occasional (7.5%) HP:0002119
54 wormian bones occasional (7.5%) HP:0002645
55 scoliosis occasional (7.5%) HP:0002650
56 radioulnar synostosis occasional (7.5%) HP:0002974
57 micromelia occasional (7.5%) HP:0002983
58 short palm occasional (7.5%) HP:0004279
59 hernia of the abdominal wall occasional (7.5%) HP:0004299
60 opacification of the corneal stroma occasional (7.5%) HP:0007759
61 presacral teratoma occasional (7.5%) HP:0009793
62 camptodactyly of finger occasional (7.5%) HP:0100490
63 megacalicosis occasional (7.5%) HP:0100581
64 autosomal dominant inheritance HP:0000006
65 scrotal hypoplasia HP:0000046
66 hypospadias HP:0000047
67 micropenis HP:0000054
68 hypoplastic labia majora HP:0000059
69 hypoplastic labia minora HP:0000064
70 ureteral stenosis HP:0000071
71 hydroureter HP:0000072
72 hydronephrosis HP:0000126
73 macroglossia HP:0000158
74 malar flattening HP:0000272
75 coarse facial features HP:0000280
76 hypertelorism HP:0000316
77 facial hemangioma HP:0000329
78 sloping forehead HP:0000340
79 high forehead HP:0000348
80 low-set ears HP:0000369
81 choanal stenosis HP:0000452
82 anteverted nares HP:0000463
83 short neck HP:0000470
84 shallow orbits HP:0000586
85 bicornuate uterus HP:0000813
86 short sternum HP:0000879
87 broad ribs HP:0000885
88 long clavicles HP:0000890
89 thickened cortex of long bones HP:0000935
90 single transverse palmar crease HP:0000954
91 hypertrichosis HP:0000998
92 postaxial hand polydactyly HP:0001162
93 intellectual disability HP:0001249
94 seizures HP:0001250
95 failure to thrive HP:0001508
96 atria septal defect HP:0001631
97 abnormality of the nasopharynx HP:0001739
98 talipes equinovarus HP:0001762
99 hyperconvex nail HP:0001795
100 cerebral atrophy HP:0002059
101 hypoplasia of the corpus callosum HP:0002079
102 ventriculomegaly HP:0002119
103 opisthotonus HP:0002179
104 hypsarrhythmia HP:0002521
105 hypoplastic nipples HP:0002557
106 wormian bones HP:0002645
107 sclerosis of skull base HP:0002694
108 hepatoblastoma HP:0002884
109 tibial bowing HP:0002982
110 short nose HP:0003196
111 widely patent fontanelles and sutures HP:0004492
112 depressed nasal bridge HP:0005280
113 metopic suture patent to nasal root HP:0005495
114 wide distal femoral metaphysis HP:0006387
115 increased density of long bones HP:0006392
116 hypoplasia of first ribs HP:0006657
117 postnatal growth retardation HP:0008897
118 aplasia/hypoplasia of the pubic bone HP:0009104
119 teratoma HP:0009792
120 short distal phalanx of finger HP:0009882
121 short 1st metacarpal HP:0010034
122 prominent forehead HP:0011220
123 hypoplasia of midface 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 Syndrome22 SETBP1

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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

33
Bone, Tongue, Uterus, Heart, Cortex, Skin

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:

67
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:

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 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet