MCID: SCH037
MIFTS: 28

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 53 71 36 13
Sgmfs 71
Sgs 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
most cases result from de novo mutations


HPO:

31
schinzel-giedion midface retraction syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Schinzel-Giedion Midface Retraction Syndrome

OMIM : 53 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, and has symptoms including seizures, opisthotonus and malar flattening. 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:

# 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:

53
Neurologic Central Nervous System:
seizures
opisthotonus
spasticity
ventriculomegaly
cerebral atrophy
more
Head And Neck Ears:
low-set ears

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 Eyes:
hypertelorism
proptosis
shallow orbits

Head And Neck Neck:
short neck

Head And Neck Mouth:
macroglossia

Chest RibsSternum 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:

31 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 opisthotonus 31 HP:0002179
3 malar flattening 31 HP:0000272
4 hypertelorism 31 HP:0000316
5 low-set ears 31 HP:0000369
6 short neck 31 HP:0000470
7 intellectual disability 31 HP:0001249
8 failure to thrive 31 HP:0001508
9 macroglossia 31 HP:0000158
10 coarse facial features 31 HP:0000280
11 depressed nasal bridge 31 HP:0005280
12 short nose 31 HP:0003196
13 anteverted nares 31 HP:0000463
14 prominent forehead 31 HP:0011220
15 broad ribs 31 HP:0000885
16 wormian bones 31 HP:0002645
17 short sternum 31 HP:0000879
18 postnatal growth retardation 31 HP:0008897
19 atrial septal defect 31 HP:0001631
20 ventriculomegaly 31 HP:0002119
21 hypospadias 31 HP:0000047
22 talipes equinovarus 31 HP:0001762
23 high forehead 31 HP:0000348
24 midface retrusion 31 HP:0011800
25 short distal phalanx of finger 31 HP:0009882
26 hydronephrosis 31 HP:0000126
27 hepatoblastoma 31 HP:0002884
28 postaxial hand polydactyly 31 HP:0001162
29 hydroureter 31 HP:0000072
30 sloping forehead 31 HP:0000340
31 facial hemangioma 31 HP:0000329
32 scrotal hypoplasia 31 HP:0000046
33 hypoplastic labia majora 31 HP:0000059
34 hypoplastic nipples 31 HP:0002557
35 short 1st metacarpal 31 HP:0010034
36 hypoplasia of the corpus callosum 31 HP:0002079
37 micropenis 31 HP:0000054
38 choanal stenosis 31 HP:0000452
39 single transverse palmar crease 31 HP:0000954
40 cerebral atrophy 31 HP:0002059
41 bicornuate uterus 31 HP:0000813
42 sacrococcygeal teratoma 31 HP:0030736
43 ureteral stenosis 31 HP:0000071
44 hypsarrhythmia 31 HP:0002521
45 tibial bowing 31 HP:0002982
46 hyperconvex nail 31 HP:0001795
47 widely patent fontanelles and sutures 31 HP:0004492
48 hypertrichosis 31 HP:0000998
49 hypoplastic labia minora 31 HP:0000064
50 long clavicles 31 HP:0000890

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:

38
Bone, Cortex, Uterus

Publications for Schinzel-Giedion Midface Retraction Syndrome

Articles related to Schinzel-Giedion Midface Retraction Syndrome:

# Title Authors Year
1
Salivary gland ultrasound abnormalities in primary SjAPgren's syndrome: consensual US-SG core items definition and reliability. ( 28879042 )
2017
2
Abnormal Expression of Sg I is Closely Related to Seminal Vesiculitis. ( 26519001 )
2016
3
WITHDRAWN: Editorial Comment on "Abnormal Expression of Sg I is Closely Related to Seminal Vesiculitis". ( 26541827 )
2015
4
Validation of a severity grading score (SGS) system for predicting the course of disease and mortality in patients with Crimean-Congo hemorrhagic fever (CCHF). ( 25213721 )
2014
5
Application of the intravenous glucose tolerance test and the minimal model to patients with insulinoma: insulin sensitivity (Si) and glucose effectiveness (Sg) before and after surgical excision. ( 18445139 )
2009
6
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein. ( 17265058 )
2007
7
Expression analysis of the SG-SSPN complex in smooth muscle and endothelial cells of human umbilical cord vessels. ( 15583476 )
2005
8
Laboratory recognition of a rare hemoglobinopathy: hemoglobins SS and SG(Philadelphia) associated with alpha-thalassemia-2. ( 10506456 )
1999

Variations for Schinzel-Giedion Midface Retraction Syndrome

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SETBP1 NM_015559.2(SETBP1): c.2602G> C (p.Asp868His) single nucleotide variant Likely pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
2 SETBP1 NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr) single nucleotide variant Pathogenic rs267607038 GRCh37 Chromosome 18, 42531917: 42531917
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.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh37 Chromosome 18, 42531908: 42531908
5 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh37 Chromosome 18, 42531914: 42531914
6 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh37 Chromosome 18, 42531913: 42531913
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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