MCID: SCH037
MIFTS: 24

Schinzel-Giedion Midface Retraction Syndrome

Categories: Genetic diseases

Aliases & Classifications for Schinzel-Giedion Midface Retraction Syndrome

MalaCards integrated aliases for Schinzel-Giedion Midface Retraction Syndrome:

Name: Schinzel-Giedion Midface Retraction Syndrome 57 75 37 13 40
Sgmfs 75
Sgs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
most cases result from de novo mutations


HPO:

32
schinzel-giedion midface retraction syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Schinzel-Giedion Midface Retraction Syndrome

OMIM : 57 Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010). (269150)

MalaCards based summary : Schinzel-Giedion Midface Retraction Syndrome, also known as sgmfs, is related to shprintzen-goldberg craniosynostosis syndrome and schinzel giedion syndrome. An important gene associated with Schinzel-Giedion Midface Retraction Syndrome is SETBP1 (SET Binding Protein 1). Affiliated tissues include bone, cortex and uterus, and related phenotypes are scrotal hypoplasia and hypospadias

UniProtKB/Swiss-Prot : 75 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

Diseases related to Schinzel-Giedion Midface Retraction Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 shprintzen-goldberg craniosynostosis syndrome 11.7
2 schinzel giedion syndrome 11.7

Symptoms & Phenotypes for Schinzel-Giedion Midface Retraction Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
proptosis
shallow orbits

Head And Neck Neck:
short neck

Growth Weight:
failure to thrive

Head And Neck Nose:
short nose
anteverted nares
low nasal bridge

Skeletal Skull:
wormian bones
sclerotic skull base
steep short base of skull
wide occipital synchondrosis

Genitourinary External Genitalia Male:
hypospadias
hypoplastic scrotum
short penis

Genitourinary Kidneys:
hydronephrosis

Genitourinary Ureters:
hydroureter
ureteral stenosis

Skin Nails Hair Skin:
facial hemangioma
hypertrichosis
transverse palmar creases
hypoplastic dermal ridges

Chest Breasts:
hypoplastic nipples

Genitourinary Internal Genitalia Female:
bicornuate uterus

Skeletal Hands:
postaxial polydactyly
transverse palmar creases
hypoplastic dermal ridges
short first metacarpals
distal phalangeal hypoplasia

Growth Other:
postnatal growth deficiency

Skeletal Pelvis:
hypoplastic/aplastic pubic bones

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
seizures
spasticity
ventriculomegaly
cerebral atrophy
opisthotonus
more
Head And Neck Mouth:
macroglossia

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs
short sternum
long clavicles
hypoplastic first ribs

Cardiovascular Heart:
atrial septal defect

Skeletal Feet:
talipes equinovarus
distal phalangeal hypoplasia
fifth toe overlapping fourth

Neoplasia:
hepatoblastoma
sacrococcygeal teratoma
embryonal tumors

Head And Neck Face:
facial hemangioma
midface hypoplasia
coarse facies
high, protruding forehead

Genitourinary External Genitalia Female:
hypoplastic labia majora
hypoplastic labia minora
deep interlabial sulcus
hymenal atresia
short perineum

Respiratory Nasopharynx:
choanal stenosis

Skeletal Limbs:
tibial bowing
broad cortex of long bones
increased density of long bones
mesomelic brachymelia
wide distal metaphysis of femur

Skin Nails Hair Nails:
hyperconvex nails

Head And Neck Head:
widely patent fontanels and sutures
metopic suture extends to nasal root


Clinical features from OMIM:

269150

Human phenotypes related to Schinzel-Giedion Midface Retraction Syndrome:

32 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 scrotal hypoplasia 32 HP:0000046
2 hypospadias 32 HP:0000047
3 micropenis 32 HP:0000054
4 hypoplastic labia majora 32 HP:0000059
5 hypoplastic labia minora 32 HP:0000064
6 ureteral stenosis 32 HP:0000071
7 hydroureter 32 HP:0000072
8 hydronephrosis 32 HP:0000126
9 macroglossia 32 HP:0000158
10 malar flattening 32 HP:0000272
11 coarse facial features 32 HP:0000280
12 hypertelorism 32 HP:0000316
13 facial hemangioma 32 HP:0000329
14 sloping forehead 32 HP:0000340
15 high forehead 32 HP:0000348
16 low-set ears 32 HP:0000369
17 choanal stenosis 32 HP:0000452
18 anteverted nares 32 HP:0000463
19 short neck 32 HP:0000470
20 shallow orbits 32 HP:0000586
21 bicornuate uterus 32 HP:0000813
22 short sternum 32 HP:0000879
23 broad ribs 32 HP:0000885
24 long clavicles 32 HP:0000890
25 thickened cortex of long bones 32 HP:0000935
26 single transverse palmar crease 32 HP:0000954
27 hypertrichosis 32 HP:0000998
28 postaxial hand polydactyly 32 HP:0001162
29 intellectual disability 32 HP:0001249
30 seizures 32 HP:0001250
31 failure to thrive 32 HP:0001508
32 atrial septal defect 32 HP:0001631
33 abnormality of the nasopharynx 32 HP:0001739
34 talipes equinovarus 32 HP:0001762
35 hyperconvex nail 32 HP:0001795
36 cerebral atrophy 32 HP:0002059
37 hypoplasia of the corpus callosum 32 HP:0002079
38 ventriculomegaly 32 HP:0002119
39 opisthotonus 32 HP:0002179
40 hypsarrhythmia 32 HP:0002521
41 hypoplastic nipples 32 HP:0002557
42 wormian bones 32 HP:0002645
43 sclerosis of skull base 32 HP:0002694
44 hepatoblastoma 32 HP:0002884
45 tibial bowing 32 HP:0002982
46 short nose 32 HP:0003196
47 widely patent fontanelles and sutures 32 HP:0004492
48 depressed nasal bridge 32 HP:0005280
49 metopic suture patent to nasal root 32 HP:0005495
50 wide distal femoral metaphysis 32 HP:0006387

Drugs & Therapeutics for Schinzel-Giedion Midface Retraction Syndrome

Search Clinical Trials , NIH Clinical Center for Schinzel-Giedion Midface Retraction Syndrome

Genetic Tests for Schinzel-Giedion Midface Retraction Syndrome

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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

41
Bone, Cortex, Uterus

Publications for Schinzel-Giedion Midface Retraction Syndrome

Variations for Schinzel-Giedion Midface Retraction Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Schinzel-Giedion Midface Retraction Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 SETBP1 p.Asp868Ala VAR_063806 rs267607041
2 SETBP1 p.Asp868Asn VAR_063807 rs267607042
3 SETBP1 p.Gly870Asp VAR_063808 rs267607039
4 SETBP1 p.Gly870Ser VAR_063809 rs267607040
5 SETBP1 p.Ile871Thr VAR_063810 rs267607038

ClinVar genetic disease variations for Schinzel-Giedion Midface Retraction Syndrome:

6
(show top 50) (show all 258)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETBP1 NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr) single nucleotide variant Pathogenic rs267607038 GRCh37 Chromosome 18, 42531917: 42531917
2 SETBP1 NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr) single nucleotide variant Pathogenic rs267607038 GRCh38 Chromosome 18, 44951952: 44951952
3 SETBP1 NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn) single nucleotide variant Pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
4 SETBP1 NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn) single nucleotide variant Pathogenic rs267607042 GRCh38 Chromosome 18, 44951942: 44951942
5 SETBP1 NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh37 Chromosome 18, 42531908: 42531908
6 SETBP1 NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh38 Chromosome 18, 44951943: 44951943
7 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh37 Chromosome 18, 42531914: 42531914
8 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh38 Chromosome 18, 44951949: 44951949
9 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh37 Chromosome 18, 42531913: 42531913
10 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh38 Chromosome 18, 44951948: 44951948
11 SETBP1 NM_015559.2(SETBP1): c.46G> A (p.Glu16Lys) single nucleotide variant Uncertain significance rs587784381 GRCh37 Chromosome 18, 42281357: 42281357
12 SETBP1 NM_015559.2(SETBP1): c.46G> A (p.Glu16Lys) single nucleotide variant Uncertain significance rs587784381 GRCh38 Chromosome 18, 44701392: 44701392
13 SETBP1 NM_015559.2(SETBP1): c.691G> C (p.Val231Leu) single nucleotide variant Benign rs11082414 GRCh37 Chromosome 18, 42529996: 42529996
14 SETBP1 NM_015559.2(SETBP1): c.691G> C (p.Val231Leu) single nucleotide variant Benign rs11082414 GRCh38 Chromosome 18, 44950031: 44950031
15 SETBP1 NM_015559.2(SETBP1): c.1170C> T (p.Ala390=) single nucleotide variant Benign/Likely benign rs8091231 GRCh37 Chromosome 18, 42530475: 42530475
16 SETBP1 NM_015559.2(SETBP1): c.1170C> T (p.Ala390=) single nucleotide variant Benign/Likely benign rs8091231 GRCh38 Chromosome 18, 44950510: 44950510
17 SETBP1 NM_015559.2(SETBP1): c.1223C> G (p.Ala408Gly) single nucleotide variant Uncertain significance rs587784380 GRCh37 Chromosome 18, 42530528: 42530528
18 SETBP1 NM_015559.2(SETBP1): c.1223C> G (p.Ala408Gly) single nucleotide variant Uncertain significance rs587784380 GRCh38 Chromosome 18, 44950563: 44950563
19 SETBP1 NM_015559.2(SETBP1): c.1503C> T (p.Pro501=) single nucleotide variant Uncertain significance rs374300895 GRCh37 Chromosome 18, 42530808: 42530808
20 SETBP1 NM_015559.2(SETBP1): c.1503C> T (p.Pro501=) single nucleotide variant Uncertain significance rs374300895 GRCh38 Chromosome 18, 44950843: 44950843
21 SETBP1 NM_015559.2(SETBP1): c.1932C> T (p.Ser644=) single nucleotide variant Conflicting interpretations of pathogenicity rs3744824 GRCh37 Chromosome 18, 42531237: 42531237
22 SETBP1 NM_015559.2(SETBP1): c.1932C> T (p.Ser644=) single nucleotide variant Conflicting interpretations of pathogenicity rs3744824 GRCh38 Chromosome 18, 44951272: 44951272
23 SETBP1 NM_015559.2(SETBP1): c.2602G> C (p.Asp868His) single nucleotide variant Likely pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
24 SETBP1 NM_015559.2(SETBP1): c.2602G> C (p.Asp868His) single nucleotide variant Likely pathogenic rs267607042 GRCh38 Chromosome 18, 44951942: 44951942
25 SETBP1 NM_015559.2(SETBP1): c.3301G> A (p.Val1101Ile) single nucleotide variant Benign rs3744825 GRCh37 Chromosome 18, 42532606: 42532606
26 SETBP1 NM_015559.2(SETBP1): c.3301G> A (p.Val1101Ile) single nucleotide variant Benign rs3744825 GRCh38 Chromosome 18, 44952641: 44952641
27 SETBP1 NM_015559.2(SETBP1): c.3388C> A (p.Pro1130Thr) single nucleotide variant Benign rs1064204 GRCh37 Chromosome 18, 42532693: 42532693
28 SETBP1 NM_015559.2(SETBP1): c.3388C> A (p.Pro1130Thr) single nucleotide variant Benign rs1064204 GRCh38 Chromosome 18, 44952728: 44952728
29 SETBP1 NM_015559.2(SETBP1): c.3825A> C (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh37 Chromosome 18, 42533130: 42533130
30 SETBP1 NM_015559.2(SETBP1): c.3825A> C (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh38 Chromosome 18, 44953165: 44953165
31 SETBP1 NM_015559.2(SETBP1): c.3825A> G (p.Ser1275=) single nucleotide variant Benign rs8096662 GRCh37 Chromosome 18, 42533130: 42533130
32 SETBP1 NM_015559.2(SETBP1): c.3825A> G (p.Ser1275=) single nucleotide variant Benign rs8096662 GRCh38 Chromosome 18, 44953165: 44953165
33 SETBP1 NM_015559.2(SETBP1): c.3825A> T (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh37 Chromosome 18, 42533130: 42533130
34 SETBP1 NM_015559.2(SETBP1): c.3825A> T (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh38 Chromosome 18, 44953165: 44953165
35 SETBP1 NM_015559.2(SETBP1): c.4000+10T> A single nucleotide variant Benign rs3786177 GRCh37 Chromosome 18, 42533315: 42533315
36 SETBP1 NM_015559.2(SETBP1): c.4000+10T> A single nucleotide variant Benign rs3786177 GRCh38 Chromosome 18, 44953350: 44953350
37 SETBP1 NM_015559.2(SETBP1): c.4129G> C (p.Val1377Leu) single nucleotide variant Benign/Likely benign rs77518617 GRCh37 Chromosome 18, 42618578: 42618578
38 SETBP1 NM_015559.2(SETBP1): c.4129G> C (p.Val1377Leu) single nucleotide variant Benign/Likely benign rs77518617 GRCh38 Chromosome 18, 45038613: 45038613
39 SETBP1 NM_015559.2(SETBP1): c.4398G> T (p.Glu1466Asp) single nucleotide variant Likely benign rs117498128 GRCh37 Chromosome 18, 42643270: 42643270
40 SETBP1 NM_015559.2(SETBP1): c.4398G> T (p.Glu1466Asp) single nucleotide variant Likely benign rs117498128 GRCh38 Chromosome 18, 45063305: 45063305
41 SETBP1 NM_015559.2(SETBP1): c.4554G> A (p.Glu1518=) single nucleotide variant Conflicting interpretations of pathogenicity rs574196735 GRCh37 Chromosome 18, 42643426: 42643426
42 SETBP1 NM_015559.2(SETBP1): c.4554G> A (p.Glu1518=) single nucleotide variant Conflicting interpretations of pathogenicity rs574196735 GRCh38 Chromosome 18, 45063461: 45063461
43 SETBP1 NM_015559.2(SETBP1): c.4640C> A (p.Thr1547Asn) single nucleotide variant Benign/Likely benign rs201973930 GRCh37 Chromosome 18, 42643512: 42643512
44 SETBP1 NM_015559.2(SETBP1): c.4640C> A (p.Thr1547Asn) single nucleotide variant Benign/Likely benign rs201973930 GRCh38 Chromosome 18, 45063547: 45063547
45 SETBP1 NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs) deletion Pathogenic rs797045952 GRCh37 Chromosome 18, 42531126: 42531126
46 SETBP1 NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs) deletion Pathogenic rs797045952 GRCh38 Chromosome 18, 44951161: 44951161
47 SETBP1 NM_015559.2(SETBP1): c.3299A> G (p.His1100Arg) single nucleotide variant Likely benign rs149162154 GRCh37 Chromosome 18, 42532604: 42532604
48 SETBP1 NM_015559.2(SETBP1): c.3299A> G (p.His1100Arg) single nucleotide variant Likely benign rs149162154 GRCh38 Chromosome 18, 44952639: 44952639
49 SETBP1 NM_015559.2(SETBP1): c.-241dupG duplication Uncertain significance rs886053786 GRCh37 Chromosome 18, 42260918: 42260918
50 SETBP1 NM_015559.2(SETBP1): c.-241dupG duplication Uncertain significance rs886053786 GRCh38 Chromosome 18, 44680953: 44680953

Expression for Schinzel-Giedion Midface Retraction Syndrome

Search GEO for disease gene expression data for Schinzel-Giedion Midface Retraction Syndrome.

Pathways for Schinzel-Giedion Midface Retraction Syndrome

GO Terms for Schinzel-Giedion Midface Retraction Syndrome

Sources for Schinzel-Giedion Midface Retraction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....