SGMFS
MCID: SCH037
MIFTS: 43

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 56 25 73 36 13
Schinzel-Giedion Syndrome 52 25 58 29 6
Sgs 56 52 58
Schinzel Giedion Syndrome 52 25
Syndrome, Schinzel-Giedion Midface Retraction 39
Schinzel Giedion Midface-Retraction Syndrome 52
Sgmfs 73

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:

56
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

Genetics Home Reference : 25 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, bone and kidney, and related phenotypes are short nose and frontal bossing

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 108)
# Related Disease Score Top Affiliating Genes
1 shprintzen-goldberg craniosynostosis syndrome 12.2
2 setbp1 disorder 11.8
3 qualitative or quantitative defects of sarcoglycan 11.5
4 welander distal myopathy 11.5
5 hydronephrosis 10.8
6 teratoma 10.5
7 hypertrichosis 10.5
8 hypertelorism 10.5
9 hydrocephalus, congenital, 1 10.4
10 alacrima, achalasia, and mental retardation syndrome 10.4
11 west syndrome 10.4
12 hydrocephalus 10.4
13 sacrococcygeal teratoma 10.4
14 hepatoblastoma 10.4
15 chromosomal triplication 10.4
16 peritonitis 10.3
17 ataxia and polyneuropathy, adult-onset 10.2
18 lipid metabolism disorder 10.2
19 macroglossia 10.2
20 neural tube defects 10.2
21 chromosome 2q35 duplication syndrome 10.2
22 chiari malformation type ii 10.2
23 cryptorchidism, unilateral or bilateral 10.2
24 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.2
25 branchiootic syndrome 1 10.2
26 polydactyly 10.2
27 epileptic encephalopathy, early infantile, 3 10.2
28 mental retardation, autosomal dominant 29 10.2
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
30 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
31 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
32 lissencephaly 10.2
33 autosomal recessive disease 10.2
34 scoliosis 10.2
35 spina bifida occulta 10.2
36 hypospadias 10.2
37 respiratory failure 10.2
38 patau syndrome 10.2
39 clubfoot 10.2
40 bronchopneumonia 10.2
41 acute cystitis 10.2
42 hypothyroidism 10.2
43 dental caries 10.2
44 early myoclonic encephalopathy 10.2
45 embryonal carcinoma 10.2
46 benign ependymoma 10.2
47 malignant ependymoma 10.2
48 myxopapillary ependymoma 10.2
49 cellular ependymoma 10.2
50 polyhydramnios 10.2

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 129)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
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 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
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 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
27 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
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 abnormality of the clavicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0000889
37 anteriorly placed anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001545
38 short 1st metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010034
39 overlapping fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0010557
40 alacrima 58 31 occasional (7.5%) Occasional (29-5%) HP:0000522
41 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
42 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
43 hypoplastic pubic bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003173
44 annular pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001734
45 streak ovary 58 31 occasional (7.5%) Occasional (29-5%) HP:0010464
46 tibial bowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002982
47 choanal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000452
48 broad alveolar ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0000187
49 abnormality of the gingiva 58 31 occasional (7.5%) Occasional (29-5%) HP:0000168
50 choroid plexus cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0002190

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia

Head And Neck Neck:
short neck

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

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

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

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

Head And Neck Eyes:
hypertelorism
proptosis
shallow orbits

Neurologic Central Nervous System:
seizures
spasticity
ventriculomegaly
cerebral atrophy
hypsarrhythmia
more
Growth Weight:
failure to thrive

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

Neoplasia:
hepatoblastoma
sacrococcygeal teratoma
embryonal tumors

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

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

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, Bone, Kidney, Brain, Eye, Tongue, Cortex

Publications for Schinzel-Giedion Midface Retraction Syndrome

Articles related to Schinzel-Giedion Midface Retraction Syndrome:

(show top 50) (show all 68)
# Title Authors PMID Year
1
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. 56 6 61
21371013 2011
2
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 56 6 61
20436468 2010
3
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 61 56 6
18398855 2008
4
Schinzel-Giedion syndrome and alacrima: a case first described in 1996. 61 56
12833418 2003
5
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. 61 56
11977181 2002
6
Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. 56 61
10532180 1999
7
Schinzel-Giedion syndrome: evidence for a neurodegenerative process. 56 61
10051170 1999
8
Sacral tumors in Schinzel-Giedion syndrome. 56 61
9738870 1998
9
Schinzel-Giedion syndrome: further delineation of the phenotype. 56 61
8723563 1996
10
Schinzel-Giedion syndrome: report of two sibs. 61 56
8849020 1995
11
A patient with Schinzel-Giedion syndrome and a review of 20 patients. 56 61
7662999 1995
12
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. 56 61
7864048 1994
13
Three new cases of the Schinzel-Giedion syndrome and review of the literature. 56 61
8160760 1994
14
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. 56 61
7917131 1994
15
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. 61 56
7506484 1993
16
Schinzel-Giedion syndrome and congenital megacalyces. 56 61
8516031 1993
17
Neurosonography and pathology in the Schinzel-Giedion syndrome. 56 61
1920374 1991
18
The Schinzel-Giedion syndrome. 56 61
2407846 1990
19
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. 56 61
7086596 1982
20
A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. 56
537022 1979
21
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. 56
665725 1978
22
A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. 61
32445275 2020
23
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
24
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub. 61
29875417 2018
25
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria. 61
29666323 2018
26
[Unusual facies with delayed development and multiple malformations in a 14-month-old boy]. 61
28774369 2017
27
Somatic SETBP1 mutations in myeloid neoplasms. 61
28447248 2017
28
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 61
28346496 2017
29
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. 61
29333303 2017
30
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome. 61
28096980 2017
31
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. 61
26188272 2015
32
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation. 61
26096993 2015
33
West syndrome in a patient with Schinzel-Giedion syndrome. 61
25028416 2015
34
Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome. 61
25171454 2015
35
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 61
25663181 2015
36
[Schinzel-Giedion syndrome: a new mutation in SETBP1]. 61
25082129 2015
37
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. 61
24357154 2014
38
Somatic SETBP1 mutations in myeloid malignancies. 61
23832012 2013
39
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. 61
23400866 2013
40
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. 61
22641181 2013
41
Cobblestone lissencephaly in Schinzel-Giedion syndrome. 61
22532548 2013
42
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 61
23222956 2013
43
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. 61
22473152 2012
44
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. 61
22333924 2012
45
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. 61
21507589 2012
46
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 61
21037274 2011
47
SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome. 61
20718797 2010
48
Scoliosis in a case of Schinzel-Giedion syndrome. 61
19533249 2009
49
Clinical and radiological findings in Schinzel-Giedion syndrome. 61
18461363 2008
50
Prenatally detected ureteropelvic junction obstruction: clinical features and associated urologic abnormalities. 61
18256845 2008

Variations for Schinzel-Giedion Midface Retraction Syndrome

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

6 (show top 50) (show all 137) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETBP1 NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)SNV Pathogenic 1032 rs267607042 18:42531907-42531907 18:44951942-44951942
2 SETBP1 NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala)SNV Pathogenic 1033 rs267607041 18:42531908-42531908 18:44951943-44951943
3 SETBP1 NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp)SNV Pathogenic 1034 rs267607039 18:42531914-42531914 18:44951949-44951949
4 SETBP1 NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)SNV Pathogenic 1035 rs267607040 18:42531913-42531913 18:44951948-44951948
5 SETBP1 NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)SNV Pathogenic 157559 rs606231272 18:42531178-42531178 18:44951213-44951213
6 SETBP1 NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)SNV Pathogenic 157560 rs606231273 18:42531181-42531181 18:44951216-44951216
7 SETBP1 NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)SNV Pathogenic 441093 rs267607038 18:42531917-42531917 18:44951952-44951952
8 SETBP1 NM_015559.3(SETBP1):c.1821del (p.Ser608fs)deletion Pathogenic 212152 rs797045952 18:42531125-42531125 18:44951160-44951160
9 SETBP1 NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)SNV Likely pathogenic 159871 rs267607042 18:42531907-42531907 18:44951942-44951942
10 SETBP1 NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)SNV Conflicting interpretations of pathogenicity 159870 rs3744824 18:42531237-42531237 18:44951272-44951272
11 SETBP1 NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)SNV Conflicting interpretations of pathogenicity 159881 rs574196735 18:42643426-42643426 18:45063461-45063461
12 SETBP1 NM_015559.3(SETBP1):c.839A>G (p.Asn280Ser)SNV Conflicting interpretations of pathogenicity 326729 rs760239764 18:42530144-42530144 18:44950179-44950179
13 SETBP1 NM_015559.3(SETBP1):c.969G>A (p.Lys323=)SNV Conflicting interpretations of pathogenicity 326732 rs138913968 18:42530274-42530274 18:44950309-44950309
14 SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)SNV Conflicting interpretations of pathogenicity 1031 rs267607038 18:42531917-42531917 18:44951952-44951952
15 SETBP1 NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)SNV Uncertain significance 159868 rs587784380 18:42530528-42530528 18:44950563-44950563
16 SETBP1 NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)SNV Uncertain significance 159869 rs374300895 18:42530808-42530808 18:44950843-44950843
17 SETBP1 NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)SNV Uncertain significance 548526 rs761385178 18:42529970-42529970 18:44950005-44950005
18 SETBP1 NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val)SNV Uncertain significance 803485 18:42531416-42531416 18:44951451-44951451
19 SETBP1 NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val)SNV Uncertain significance 803486 18:42533137-42533137 18:44953172-44953172
20 SETBP1 NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)SNV Uncertain significance 159883 rs587784381 18:42281357-42281357 18:44701392-44701392
21 SETBP1 NM_015559.3(SETBP1):c.1032T>A (p.Ser344Arg)SNV Uncertain significance 326733 rs886053791 18:42530337-42530337 18:44950372-44950372
22 SETBP1 NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=)SNV Uncertain significance 159876 rs8096662 18:42533130-42533130 18:44953165-44953165
23 SETBP1 NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=)SNV Uncertain significance 159874 rs8096662 18:42533130-42533130 18:44953165-44953165
24 SETBP1 NM_015559.3(SETBP1):c.-241dupduplication Uncertain significance 326718 rs886053786 18:42260910-42260911 18:44680945-44680946
25 SETBP1 NM_015559.3(SETBP1):c.2358C>T (p.Ser786=)SNV Uncertain significance 326746 rs886053793 18:42531663-42531663 18:44951698-44951698
26 SETBP1 NM_015559.3(SETBP1):c.4204C>T (p.Arg1402Trp)SNV Uncertain significance 326760 rs761262114 18:42643076-42643076 18:45063111-45063111
27 SETBP1 NM_015559.3(SETBP1):c.*205C>GSNV Uncertain significance 326763 rs886053795 18:42643868-42643868 18:45063903-45063903
28 SETBP1 NM_015559.3(SETBP1):c.*339C>GSNV Uncertain significance 326764 rs886053796 18:42644002-42644002 18:45064037-45064037
29 SETBP1 NM_015559.3(SETBP1):c.*2437C>TSNV Uncertain significance 326786 rs886053808 18:42646100-42646100 18:45066135-45066135
30 SETBP1 NM_015559.3(SETBP1):c.*2900A>GSNV Uncertain significance 326790 rs376381081 18:42646563-42646563 18:45066598-45066598
31 SETBP1 NM_015559.3(SETBP1):c.*2970_*2971insTinsertion Uncertain significance 326793 rs886053809 18:42646633-42646634 18:45066668-45066669
32 SETBP1 NM_015559.3(SETBP1):c.*2971deldeletion Uncertain significance 326794 rs886053810 18:42646634-42646634 18:45066669-45066669
33 SETBP1 NM_015559.3(SETBP1):c.*3403C>TSNV Uncertain significance 326801 rs886053813 18:42647066-42647066 18:45067101-45067101
34 SETBP1 NM_015559.3(SETBP1):c.*1643_*1647deldeletion Uncertain significance 326778 rs370951422 18:42645304-42645308 18:45065339-45065343
35 SETBP1 NM_015559.3(SETBP1):c.*2244C>TSNV Uncertain significance 326782 rs886053807 18:42645907-42645907 18:45065942-45065942
36 SETBP1 NM_015559.3(SETBP1):c.*4205C>TSNV Uncertain significance 326814 rs886053818 18:42647868-42647868 18:45067903-45067903
37 SETBP1 NM_015559.3(SETBP1):c.*4648C>GSNV Uncertain significance 326820 rs886053820 18:42648311-42648311 18:45068346-45068346
38 SETBP1 NM_015559.3(SETBP1):c.-293T>CSNV Uncertain significance 326717 rs775939408 18:42260866-42260866 18:44680901-44680901
39 SETBP1 NM_015559.3(SETBP1):c.*1338C>ASNV Uncertain significance 326773 rs886053803 18:42645001-42645001 18:45065036-45065036
40 SETBP1 NM_015559.3(SETBP1):c.-36C>TSNV Uncertain significance 326721 rs886053787 18:42281276-42281276 18:44701311-44701311
41 SETBP1 NM_015559.3(SETBP1):c.*750G>TSNV Uncertain significance 326767 rs886053799 18:42644413-42644413 18:45064448-45064448
42 SETBP1 NM_015559.3(SETBP1):c.*1068G>CSNV Uncertain significance 326770 rs886053801 18:42644731-42644731 18:45064766-45064766
43 SETBP1 NM_015559.3(SETBP1):c.*1377G>ASNV Uncertain significance 326774 rs886053804 18:42645040-42645040 18:45065075-45065075
44 SETBP1 NM_015559.3(SETBP1):c.*2188G>ASNV Uncertain significance 326781 rs868033399 18:42645851-42645851 18:45065886-45065886
45 SETBP1 NM_015559.3(SETBP1):c.816C>T (p.Asn272=)SNV Uncertain significance 326728 rs886053788 18:42530121-42530121 18:44950156-44950156
46 SETBP1 NM_015559.3(SETBP1):c.*3459G>ASNV Uncertain significance 326803 rs886053814 18:42647122-42647122 18:45067157-45067157
47 SETBP1 NM_015559.3(SETBP1):c.1552C>T (p.Leu518=)SNV Uncertain significance 326741 rs756912768 18:42530857-42530857 18:44950892-44950892
48 SETBP1 NM_015559.3(SETBP1):c.2948C>G (p.Pro983Arg)SNV Uncertain significance 326749 rs886053794 18:42532253-42532253 18:44952288-44952288
49 SETBP1 NM_015559.3(SETBP1):c.3561C>T (p.Ser1187=)SNV Uncertain significance 326751 rs138530624 18:42532866-42532866 18:44952901-44952901
50 SETBP1 NM_015559.3(SETBP1):c.*456C>ASNV Uncertain significance 326765 rs886053797 18:42644119-42644119 18:45064154-45064154

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....