SGMFS
MCID: SCH037
MIFTS: 41

Schinzel-Giedion Midface Retraction Syndrome (SGMFS)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 43 72 36 13
Schinzel-Giedion Syndrome 20 43 58 29 6
Sgs 57 20 58
Schinzel Giedion Syndrome 20 43
Syndrome, Schinzel-Giedion Midface Retraction 39
Schinzel Giedion Midface-Retraction Syndrome 20
Sgmfs 72

Characteristics:

Orphanet epidemiological data:

58
schinzel-giedion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
most cases result from de novo mutations


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Schinzel-Giedion Midface Retraction Syndrome

MedlinePlus Genetics : 43 Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, low-set ears, and an inability to secrete tears (alacrima). Babies with Schinzel-Giedion syndrome often have excessive hairiness (hypertrichosis) that usually disappears in infancy.Children with Schinzel-Giedion syndrome have severe developmental delay. Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. They may also experience short pauses in breathing during sleep (sleep apnea).Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the heart valves, which control blood flow in the heart; the chambers of the heart that pump blood to the body (ventricles); or the dividing wall between the sides of the heart (the septum). Most children with Schinzel-Giedion syndrome have an accumulation of urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. Affected individuals can have genital abnormalities such as underdevelopment (hypoplasia) of the genitals. Affected boys may have the opening of the urethra on the underside of the penis (hypospadias).Bone abnormalities are common in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally hard or thick (sclerotic), or the joint between the bones at the base of the skull (occipital synchondrosis) can be abnormally wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), inward- and upward-turning feet (clubfeet), or shortened bones in the arms or legs or at the ends of the fingers (hypoplastic distal phalanges).Children with Schinzel-Giedion syndrome who survive past infancy have a higher than normal risk of developing certain types of brain tumors called neuroepithelial tumors.

MalaCards based summary : Schinzel-Giedion Midface Retraction Syndrome, also known as schinzel-giedion syndrome, is related to shprintzen-goldberg craniosynostosis syndrome and setbp1 disorder. An important gene associated with Schinzel-Giedion Midface Retraction Syndrome is SETBP1 (SET Binding Protein 1). Affiliated tissues include heart, tongue and bone, and related phenotypes are frontal bossing and short nose

GARD : 20 Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability ; a distinctive facial appearance; excessive hair growth ( hypertrichosis ); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. Affected children usually do not survive beyond a few years after birth. SGS is caused by a mutation in the SETBP1 gene. The mutation is not inherited from a parent, but occurs for the first time in the affected child (a de novo mutation). Treatment is based on symptoms and consists of palliative care.

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) (Updated 20-May-2021)

KEGG : 36 Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, and neuroepithelial neoplasia. The disorder is lethal and respiratory failure is the major cause of death.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Schinzel-Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first... more...

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:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 shprintzen-goldberg craniosynostosis syndrome 11.5
2 setbp1 disorder 11.3
3 welander distal myopathy 11.2
4 hydronephrosis 10.7
5 teratoma 10.5
6 hypertrichosis 10.5
7 hypertelorism 10.4
8 mental retardation, autosomal dominant 29 10.4
9 sacrococcygeal teratoma 10.4
10 alacrima, achalasia, and mental retardation syndrome 10.3
11 west syndrome 10.3
12 hydrocephalus 10.3
13 intellectual disability-expressive aphasia-facial dysmorphism syndrome 10.3
14 hepatoblastoma 10.3
15 chromosomal triplication 10.3
16 macroglossia 10.1
17 neural tube defects 10.1
18 chromosome 2q35 duplication syndrome 10.1
19 chiari malformation type ii 10.1
20 cryptorchidism, unilateral or bilateral 10.1
21 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.1
22 branchiootic syndrome 1 10.1
23 polydactyly 10.1
24 developmental and epileptic encephalopathy 3 10.1
25 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
26 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
27 lissencephaly 10.1
28 autosomal recessive disease 10.1
29 scoliosis 10.1
30 spina bifida occulta 10.1
31 non-alcoholic fatty liver disease 10.1
32 urinary tract infection 10.1
33 hypospadias 10.1
34 respiratory failure 10.1
35 patau syndrome 10.1
36 clubfoot 10.1
37 bronchopneumonia 10.1
38 hypothyroidism 10.1
39 dental caries 10.1
40 osteochondrodysplasia 10.1
41 early myoclonic encephalopathy 10.1
42 embryonal carcinoma 10.1
43 benign ependymoma 10.1
44 myxopapillary ependymoma 10.1
45 cellular ependymoma 10.1
46 polyhydramnios 10.1
47 diabetes insipidus 10.1
48 47,xyy 10.1
49 polymicrogyria 10.1
50 chiari malformation 10.1

Graphical network of the top 20 diseases related to Schinzel-Giedion Midface Retraction Syndrome:



Diseases related to Schinzel-Giedion Midface Retraction Syndrome

Symptoms & Phenotypes for Schinzel-Giedion Midface Retraction Syndrome

Human phenotypes related to Schinzel-Giedion Midface Retraction Syndrome:

58 31 (show top 50) (show all 130)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
4 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
5 profound global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0012736
6 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
7 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
10 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
11 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
12 broad ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000885
13 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
14 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
15 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
16 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
17 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
18 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
19 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
20 facial hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0000329
21 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
22 abnormal heart morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001627
23 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
24 generalized hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0004554
25 shallow orbits 58 31 frequent (33%) Frequent (79-30%) HP:0000586
26 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
27 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
28 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
29 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
30 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
31 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
32 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
33 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
34 abnormal cochlea morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000375
35 wormian bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0002645
36 anteriorly placed anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001545
37 short 1st metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010034
38 overlapping fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0010557
39 alacrima 58 31 occasional (7.5%) Occasional (29-5%) HP:0000522
40 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
41 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
42 hypoplastic pubic bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003173
43 annular pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001734
44 streak ovary 58 31 occasional (7.5%) Occasional (29-5%) HP:0010464
45 tibial bowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002982
46 choanal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000452
47 broad alveolar ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0000187
48 choroid plexus cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0002190
49 abnormality of the stapes 58 31 occasional (7.5%) Occasional (29-5%) HP:0008628
50 abnormality of the gingiva 58 31 occasional (7.5%) Occasional (29-5%) HP:0000168

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
ventriculomegaly
cerebral atrophy
hypsarrhythmia
more
Head And Neck Neck:
short neck

Head And Neck Eyes:
hypertelorism
proptosis
shallow orbits

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

Cardiovascular Heart:
atrial septal defect

Genitourinary Kidneys:
hydronephrosis

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

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

Genitourinary Ureters:
hydroureter
ureteral stenosis

Chest Breasts:
hypoplastic nipples

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

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

Growth Weight:
failure to thrive

Head And Neck Mouth:
macroglossia

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

Head And Neck Ears:
low-set ears

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

Genitourinary External Genitalia Male:
hypospadias
hypoplastic scrotum
short penis

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

Neoplasia:
hepatoblastoma
sacrococcygeal teratoma
embryonal tumors

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

Genitourinary Internal Genitalia Female:
bicornuate uterus

Respiratory Nasopharynx:
choanal stenosis

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 (Updated 20-May-2021)

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:

# Genetic test Affiliating Genes
1 Schinzel-Giedion Syndrome 29 SETBP1

Anatomical Context for Schinzel-Giedion Midface Retraction Syndrome

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

40
Heart, Tongue, Bone, Cortex, Pancreas, Ovary, Myeloid

Publications for Schinzel-Giedion Midface Retraction Syndrome

Articles related to Schinzel-Giedion Midface Retraction Syndrome:

(show top 50) (show all 71)
# Title Authors PMID Year
1
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. 57 6 61
21371013 2011
2
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 57 6 61
20436468 2010
3
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 57 6 61
18398855 2008
4
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 6 61
28346496 2017
5
West syndrome in a patient with Schinzel-Giedion syndrome. 6 61
25028416 2015
6
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 6 61
25663181 2015
7
Schinzel-Giedion syndrome and alacrima: a case first described in 1996. 57 61
12833418 2003
8
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. 61 57
11977181 2002
9
Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. 57 61
10532180 1999
10
Schinzel-Giedion syndrome: evidence for a neurodegenerative process. 57 61
10051170 1999
11
Sacral tumors in Schinzel-Giedion syndrome. 57 61
9738870 1998
12
Schinzel-Giedion syndrome: further delineation of the phenotype. 57 61
8723563 1996
13
Schinzel-Giedion syndrome: report of two sibs. 61 57
8849020 1995
14
A patient with Schinzel-Giedion syndrome and a review of 20 patients. 61 57
7662999 1995
15
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. 57 61
7864048 1994
16
Three new cases of the Schinzel-Giedion syndrome and review of the literature. 61 57
8160760 1994
17
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. 61 57
7917131 1994
18
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. 57 61
7506484 1993
19
Schinzel-Giedion syndrome and congenital megacalyces. 61 57
8516031 1993
20
Neurosonography and pathology in the Schinzel-Giedion syndrome. 61 57
1920374 1991
21
The Schinzel-Giedion syndrome. 61 57
2407846 1990
22
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. 57 61
7086596 1982
23
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 6
25852444 2015
24
A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. 57
537022 1979
25
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. 57
665725 1978
26
A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. 61
32445275 2020
27
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate. 61
32460883 2020
28
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy". 61
33391157 2020
29
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub. 61
29875417 2018
30
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria. 61
29666323 2018
31
[Unusual facies with delayed development and multiple malformations in a 14-month-old boy]. 61
28774369 2017
32
Somatic SETBP1 mutations in myeloid neoplasms. 61
28447248 2017
33
Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter. 61
28451008 2017
34
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome. 61
28096980 2017
35
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. 61
29333303 2017
36
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. 61
26188272 2015
37
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation. 61
26096993 2015
38
Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome. 61
25171454 2015
39
[Schinzel-Giedion syndrome: a new mutation in SETBP1]. 61
25082129 2015
40
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. 61
24357154 2014
41
Somatic SETBP1 mutations in myeloid malignancies. 61
23832012 2013
42
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. 61
23400866 2013
43
Cobblestone lissencephaly in Schinzel-Giedion syndrome. 61
22532548 2013
44
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. 61
22641181 2013
45
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 61
23222956 2013
46
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. 61
22473152 2012
47
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. 61
22333924 2012
48
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. 61
21507589 2012
49
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 61
21037274 2011
50
SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome. 61
20718797 2010

Variations for Schinzel-Giedion Midface Retraction Syndrome

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

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) SNV Pathogenic 1031 rs267607038 GRCh37: 18:42531917-42531917
GRCh38: 18:44951952-44951952
2 SETBP1 NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) SNV Pathogenic 1032 rs267607042 GRCh37: 18:42531907-42531907
GRCh38: 18:44951942-44951942
3 SETBP1 NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala) SNV Pathogenic 1033 rs267607041 GRCh37: 18:42531908-42531908
GRCh38: 18:44951943-44951943
4 SETBP1 NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) SNV Pathogenic 1034 rs267607039 GRCh37: 18:42531914-42531914
GRCh38: 18:44951949-44951949
5 SETBP1 NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) SNV Pathogenic 1035 rs267607040 GRCh37: 18:42531913-42531913
GRCh38: 18:44951948-44951948
6 SETBP1 NM_015559.3(SETBP1):c.1821del (p.Ser608fs) Deletion Pathogenic 212152 rs797045952 GRCh37: 18:42531125-42531125
GRCh38: 18:44951160-44951160
7 SETBP1 NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) SNV Pathogenic 441093 rs267607038 GRCh37: 18:42531917-42531917
GRCh38: 18:44951952-44951952
8 SETBP1 NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) SNV Pathogenic 157559 rs606231272 GRCh37: 18:42531178-42531178
GRCh38: 18:44951213-44951213
9 SETBP1 NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) SNV Pathogenic 157560 rs606231273 GRCh37: 18:42531181-42531181
GRCh38: 18:44951216-44951216
10 SETBP1 NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) SNV Pathogenic 1032 rs267607042 GRCh37: 18:42531907-42531907
GRCh38: 18:44951942-44951942
11 SETBP1 NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs) Deletion Likely pathogenic 988755 GRCh37: 18:42530718-42530721
GRCh38: 18:44950753-44950756
12 SETBP1 NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) SNV Likely pathogenic 989326 GRCh37: 18:42531866-42531866
GRCh38: 18:44951901-44951901
13 SETBP1 NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) SNV Likely pathogenic 159871 rs267607042 GRCh37: 18:42531907-42531907
GRCh38: 18:44951942-44951942
14 SETBP1 NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=) SNV Uncertain significance 159874 rs8096662 GRCh37: 18:42533130-42533130
GRCh38: 18:44953165-44953165
15 SETBP1 NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=) SNV Uncertain significance 159876 rs8096662 GRCh37: 18:42533130-42533130
GRCh38: 18:44953165-44953165
16 SETBP1 NM_015559.3(SETBP1):c.*745dup Duplication Uncertain significance 326766 rs368699262 GRCh37: 18:42644398-42644399
GRCh38: 18:45064433-45064434
17 SETBP1 NM_015559.3(SETBP1):c.-241dup Duplication Uncertain significance 326718 rs886053786 GRCh37: 18:42260910-42260911
GRCh38: 18:44680945-44680946
18 SETBP1 NM_015559.3(SETBP1):c.*2987dup Duplication Uncertain significance 326795 rs34125334 GRCh37: 18:42646634-42646635
GRCh38: 18:45066669-45066670
19 SETBP1 NM_015559.3(SETBP1):c.*1643_*1647del Deletion Uncertain significance 326778 rs370951422 GRCh37: 18:42645304-42645308
GRCh38: 18:45065339-45065343
20 SETBP1 NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) SNV Uncertain significance 159868 rs587784380 GRCh37: 18:42530528-42530528
GRCh38: 18:44950563-44950563
21 SETBP1 NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) SNV Uncertain significance 159869 rs374300895 GRCh37: 18:42530808-42530808
GRCh38: 18:44950843-44950843
22 SETBP1 NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) SNV Uncertain significance 159870 rs3744824 GRCh37: 18:42531237-42531237
GRCh38: 18:44951272-44951272
23 SETBP1 NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) SNV Uncertain significance 1030515 GRCh37: 18:42532222-42532222
GRCh38: 18:44952257-44952257
24 SETBP1 NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) SNV Uncertain significance 548526 rs761385178 GRCh37: 18:42529970-42529970
GRCh38: 18:44950005-44950005
25 SETBP1 NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val) SNV Uncertain significance 803485 rs1599367870 GRCh37: 18:42531416-42531416
GRCh38: 18:44951451-44951451
26 SETBP1 NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val) SNV Uncertain significance 803486 rs751429016 GRCh37: 18:42533137-42533137
GRCh38: 18:44953172-44953172
27 SETBP1 NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) SNV Uncertain significance 159881 rs574196735 GRCh37: 18:42643426-42643426
GRCh38: 18:45063461-45063461
28 SETBP1 NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) SNV Uncertain significance 159883 rs587784381 GRCh37: 18:42281357-42281357
GRCh38: 18:44701392-44701392
29 SETBP1 NM_015559.3(SETBP1):c.*2970_*2971insT Insertion Uncertain significance 326793 rs886053809 GRCh37: 18:42646633-42646634
GRCh38: 18:45066668-45066669
30 SETBP1 NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) SNV Uncertain significance 326746 rs886053793 GRCh37: 18:42531663-42531663
GRCh38: 18:44951698-44951698
31 SETBP1 NM_015559.3(SETBP1):c.*2971del Deletion Uncertain significance 326794 rs886053810 GRCh37: 18:42646634-42646634
GRCh38: 18:45066669-45066669
32 SETBP1 NM_015559.3(SETBP1):c.*2988del Deletion Uncertain significance 326797 rs886053812 GRCh37: 18:42646651-42646651
GRCh38: 18:45066686-45066686
33 SETBP1 NM_015559.3(SETBP1):c.*1377G>A SNV Uncertain significance 326774 rs886053804 GRCh37: 18:42645040-42645040
GRCh38: 18:45065075-45065075
34 SETBP1 NM_015559.3(SETBP1):c.*2063_*2066del Deletion Uncertain significance 326780 rs886053806 GRCh37: 18:42645724-42645727
GRCh38: 18:45065759-45065762
35 SETBP1 NM_015559.3(SETBP1):c.*3313A>C SNV Likely benign 326800 rs557394901 GRCh37: 18:42646976-42646976
GRCh38: 18:45067011-45067011
36 SETBP1 NM_015559.3(SETBP1):c.*1160del Deletion Likely benign 326771 rs566863613 GRCh37: 18:42644821-42644821
GRCh38: 18:45064856-45064856
37 SETBP1 NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) SNV Likely benign 326726 rs143196787 GRCh37: 18:42529990-42529990
GRCh38: 18:44950025-44950025
38 SETBP1 NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) SNV Likely benign 706500 rs149638556 GRCh37: 18:42533267-42533267
GRCh38: 18:44953302-44953302
39 SETBP1 NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) SNV Likely benign 803487 rs775975116 GRCh37: 18:42643074-42643074
GRCh38: 18:45063109-45063109
40 SETBP1 NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) SNV Likely benign 159880 rs117498128 GRCh37: 18:42643270-42643270
GRCh38: 18:45063305-45063305
41 SETBP1 NM_015559.3(SETBP1):c.*4753del Deletion Benign 326821 rs10715988 GRCh37: 18:42648406-42648406
GRCh38: 18:45068441-45068441
42 SETBP1 NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT Insertion Benign 326725 rs3085861 GRCh37: 18:42456670-42456671
GRCh38: 18:44876705-44876706

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

72
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....