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 49 11 22 67
 
Sgmfs 67

Characteristics:

HPO:

61
schinzel-giedion midface retraction syndrome:
Inheritance: autosomal dominant inheritance


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 sgmfs, is related to schinzel giedion syndrome, and has symptoms including displacement of the external urethral meatus, cognitive impairment and periorbital edema. An important gene associated with Schinzel-Giedion Midface Retraction Syndrome is SETBP1 (SET Binding Protein 1). Affiliated tissues include bone, cortex and skin.

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 syndrome12.1

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 displacement of the external urethral meatus hallmark (90%) HP:0100627
2 cognitive impairment hallmark (90%) HP:0100543
3 periorbital edema hallmark (90%) HP:0100539
4 hypoplasia of penis hallmark (90%) HP:0008736
5 short nose hallmark (90%) HP:0003196
6 frontal bossing hallmark (90%) HP:0002007
7 hypertonia hallmark (90%) HP:0001276
8 seizures hallmark (90%) HP:0001250
9 visual impairment hallmark (90%) HP:0000505
10 short neck hallmark (90%) HP:0000470
11 anteverted nares hallmark (90%) HP:0000463
12 sensorineural hearing impairment hallmark (90%) HP:0000407
13 abnormality of the pinna hallmark (90%) HP:0000377
14 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
15 narrow forehead hallmark (90%) HP:0000341
16 hypertelorism hallmark (90%) HP:0000316
17 coarse facial features hallmark (90%) HP:0000280
18 malar flattening hallmark (90%) HP:0000272
19 vesicoureteral reflux hallmark (90%) HP:0000076
20 abnormality of female external genitalia hallmark (90%) HP:0000055
21 short distal phalanx of finger typical (50%) HP:0009882
22 bowing of the long bones typical (50%) HP:0006487
23 depressed nasal bridge typical (50%) HP:0005280
24 abnormality of bone mineral density typical (50%) HP:0004348
25 decreased skull ossification typical (50%) HP:0004331
26 abnormal cortical bone morphology typical (50%) HP:0003103
27 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
28 abnormality of the ribs typical (50%) HP:0000772
29 proptosis typical (50%) HP:0000520
30 thickened nuchal skin fold typical (50%) HP:0000474
31 choanal atresia typical (50%) HP:0000453
32 microcephaly typical (50%) HP:0000252
33 abnormality of the tongue typical (50%) HP:0000157
34 cryptorchidism typical (50%) HP:0000028
35 megacalicosis occasional (7.5%) HP:0100581
36 camptodactyly of finger occasional (7.5%) HP:0100490
37 presacral teratoma occasional (7.5%) HP:0009793
38 opacification of the corneal stroma occasional (7.5%) HP:0007759
39 hernia of the abdominal wall occasional (7.5%) HP:0004299
40 short palm occasional (7.5%) HP:0004279
41 micromelia occasional (7.5%) HP:0002983
42 radioulnar synostosis occasional (7.5%) HP:0002974
43 scoliosis occasional (7.5%) HP:0002650
44 wormian bones occasional (7.5%) HP:0002645
45 ventriculomegaly occasional (7.5%) HP:0002119
46 talipes occasional (7.5%) HP:0001883
47 rocker bottom foot occasional (7.5%) HP:0001838
48 short foot occasional (7.5%) HP:0001773
49 laryngomalacia occasional (7.5%) HP:0001601
50 polyhydramnios occasional (7.5%) HP:0001561
51 muscular hypotonia occasional (7.5%) HP:0001252
52 abnormality of the fingernails occasional (7.5%) HP:0001231
53 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
54 hand polydactyly occasional (7.5%) HP:0001161
55 hypertrichosis occasional (7.5%) HP:0000998
56 abnormality of the clavicle occasional (7.5%) HP:0000889
57 hypothyroidism occasional (7.5%) HP:0000821
58 optic atrophy occasional (7.5%) HP:0000648
59 alacrima occasional (7.5%) HP:0000522
60 strabismus occasional (7.5%) HP:0000486
61 microcornea occasional (7.5%) HP:0000482
62 micrognathia occasional (7.5%) HP:0000347
63 midface retrusion HP:0011800
64 prominent forehead HP:0011220
65 short 1st metacarpal HP:0010034
66 short distal phalanx of finger HP:0009882
67 teratoma HP:0009792
68 aplasia/hypoplasia of the pubic bone HP:0009104
69 postnatal growth retardation HP:0008897
70 hypoplasia of first ribs HP:0006657
71 increased density of long bones HP:0006392
72 wide distal femoral metaphysis HP:0006387
73 metopic suture patent to nasal root HP:0005495
74 depressed nasal bridge HP:0005280
75 widely patent fontanelles and sutures HP:0004492
76 short nose HP:0003196
77 tibial bowing HP:0002982
78 hepatoblastoma HP:0002884
79 sclerosis of skull base HP:0002694
80 wormian bones HP:0002645
81 hypoplastic nipples HP:0002557
82 hypsarrhythmia HP:0002521
83 opisthotonus HP:0002179
84 ventriculomegaly HP:0002119
85 hypoplasia of the corpus callosum HP:0002079
86 cerebral atrophy HP:0002059
87 hyperconvex nail HP:0001795
88 talipes equinovarus HP:0001762
89 abnormality of the nasopharynx HP:0001739
90 atria septal defect HP:0001631
91 failure to thrive HP:0001508
92 seizures HP:0001250
93 intellectual disability HP:0001249
94 postaxial hand polydactyly HP:0001162
95 hypertrichosis HP:0000998
96 single transverse palmar crease HP:0000954
97 thickened cortex of long bones HP:0000935
98 long clavicles HP:0000890
99 broad ribs HP:0000885
100 short sternum HP:0000879
101 bicornuate uterus HP:0000813
102 shallow orbits HP:0000586
103 short neck HP:0000470
104 anteverted nares HP:0000463
105 choanal stenosis HP:0000452
106 low-set ears HP:0000369
107 high forehead HP:0000348
108 sloping forehead HP:0000340
109 facial hemangioma HP:0000329
110 hypertelorism HP:0000316
111 coarse facial features HP:0000280
112 malar flattening HP:0000272
113 macroglossia HP:0000158
114 hydronephrosis HP:0000126
115 hydroureter HP:0000072
116 ureteral stenosis HP:0000071
117 hypoplastic labia minora HP:0000064
118 hypoplastic labia majora HP:0000059
119 micropenis HP:0000054
120 hypospadias HP:0000047
121 scrotal hypoplasia HP:0000046

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, Cortex, Skin, Uterus, Tongue

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