MCID: SCH037
MIFTS: 22

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 54 24 71 13
Sgmfs 71

Characteristics:

OMIM:

54
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 : 54
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 schinzel giedion syndrome, and has symptoms including failure to thrive, macroglossia and hypertrichosis. An important gene associated with Schinzel-Giedion Midface Retraction Syndrome is SETBP1 (SET Binding Protein 1). Affiliated tissues include bone, cortex and uterus.

UniProtKB/Swiss-Prot : 71 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:

id Related Disease Score Top Affiliating Genes
1 schinzel giedion syndrome 11.6

Symptoms & Phenotypes for Schinzel-Giedion Midface Retraction Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Weight:
failure to thrive

Head And Neck- Mouth:
macroglossia

Neurologic- Central Nervous System:
mental retardation
ventriculomegaly
thin corpus callosum
spasticity
cerebral atrophy
more
Head And Neck- Eyes:
hypertelorism
proptosis
shallow orbits

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

Genitourinary- External Genitalia Male:
hypospadias
hypoplastic scrotum
short penis

Genitourinary- Kidneys:
hydronephrosis

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

Head And Neck- Neck:
short neck

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

Chest- Breasts:
hypoplastic nipples

Neoplasia:
hepatoblastoma
embryonal tumors
sacrococcygeal teratoma

Growth- Other:
postnatal growth deficiency

Skeletal- Pelvis:
hypoplastic/aplastic pubic bones

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

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

Head And Neck- Ears:
low-set ears

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

Cardiovascular- Heart:
atrial septal defect

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

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

Skin Nails & Hair- Nails:
hyperconvex nails

Genitourinary- Internal Genitalia Female:
bicornuate uterus

Genitourinary- Ureters:
hydroureter
ureteral stenosis

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

Respiratory- Nasopharynx:
choanal stenosis

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 59)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 macroglossia 32 HP:0000158
3 hypertrichosis 32 HP:0000998
4 ventriculomegaly 32 HP:0002119
5 cerebral atrophy 32 HP:0002059
6 seizures 32 HP:0001250
7 high forehead 32 HP:0000348
8 low-set ears 32 HP:0000369
9 hypsarrhythmia 32 HP:0002521
10 depressed nasal bridge 32 HP:0005280
11 micropenis 32 HP:0000054
12 coarse facial features 32 HP:0000280
13 prominent forehead 32 HP:0011220
14 hypertelorism 32 HP:0000316
15 wormian bones 32 HP:0002645
16 tibial bowing 32 HP:0002982
17 atrial septal defect 32 HP:0001631
18 hypospadias 32 HP:0000047
19 sloping forehead 32 HP:0000340
20 short nose 32 HP:0003196
21 anteverted nares 32 HP:0000463
22 hydronephrosis 32 HP:0000126
23 hypoplastic labia minora 32 HP:0000064
24 hypoplastic labia majora 32 HP:0000059
25 talipes equinovarus 32 HP:0001762
26 short neck 32 HP:0000470
27 intellectual disability 32 HP:0001249
28 hypoplasia of the corpus callosum 32 HP:0002079
29 midface retrusion 32 HP:0011800
30 bicornuate uterus 32 HP:0000813
31 postnatal growth retardation 32 HP:0008897
32 scrotal hypoplasia 32 HP:0000046
33 hydroureter 32 HP:0000072
34 hypoplastic nipples 32 HP:0002557
35 long clavicles 32 HP:0000890
36 malar flattening 32 HP:0000272
37 broad ribs 32 HP:0000885
38 opisthotonus 32 HP:0002179
39 shallow orbits 32 HP:0000586
40 single transverse palmar crease 32 HP:0000954
41 hepatoblastoma 32 HP:0002884
42 choanal stenosis 32 HP:0000452
43 hypoplasia of first ribs 32 HP:0006657
44 thickened cortex of long bones 32 HP:0000935
45 short sternum 32 HP:0000879
46 facial hemangioma 32 HP:0000329
47 ureteral stenosis 32 HP:0000071
48 increased density of long bones 32 HP:0006392
49 sclerosis of skull base 32 HP:0002694
50 short distal phalanx of finger 32 HP:0009882

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

Genetic tests related to Schinzel-Giedion Midface Retraction Syndrome:

id Genetic test Affiliating Genes
1 Schinzel-Giedion Midface Retraction Syndrome 24 SETBP1

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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

39
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:

71
id 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
id 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.2602G> A (p.Asp868Asn) single nucleotide variant Pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
3 SETBP1 NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh37 Chromosome 18, 42531908: 42531908
4 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh37 Chromosome 18, 42531914: 42531914
5 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh37 Chromosome 18, 42531913: 42531913
6 SETBP1 NM_015559.2(SETBP1): c.2602G> C (p.Asp868His) single nucleotide variant Likely pathogenic rs267607042 GRCh38 Chromosome 18, 44951942: 44951942
7 SETBP1 NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs) deletion Pathogenic rs797045952 GRCh38 Chromosome 18, 44951161: 44951161

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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