SGS
MCID: SCH024
MIFTS: 42

Schinzel Giedion Syndrome (SGS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Schinzel Giedion Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Schinzel-giedion syndrome is a rare genetic syndrome. common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance. recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children. the underlying genetic defect that causes the condition has not yet been identified. last updated: 1/20/2009

MalaCards: Schinzel Giedion Syndrome, also known as schinzel-giedion syndrome, is related to hydronephrosis and sacrococcygeal teratoma, and has symptoms including camptodactyly of fingers, clavicle absent/abnormal and scoliosis. An important gene associated with Schinzel Giedion Syndrome is SETBP1 (SET binding protein 1). Affiliated tissues include kidney, bone and testes.

Genetics Home Reference:21 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.

Description from OMIM:47 269150

Aliases & Classifications for Schinzel Giedion Syndrome

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 49Orphanet, 62UMLS, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
schinzel-giedion syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

schinzel giedion syndrome 43 21
schinzel-giedion syndrome 43 22 21 49 62
schinzel-giedion midface retraction syndrome 21 47
schinzel giedion midface-retraction syndrome 43 20
sgs 43 49


External Ids:

OMIM47 269150
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet59 18899000
UMLS via Orphanet63 C0265227

Related Diseases for Schinzel Giedion Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Schinzel Giedion Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1hydronephrosis10.6
2sacrococcygeal teratoma10.5
3teratoma10.5
4shprintzen-goldberg syndrome10.3
5early myoclonic encephalopathy10.3
6diabetes insipidus10.3
7lissencephaly10.3
8west syndrome10.3
9gingivitis10.3
10hypothyroidism10.3
11skeletal dysplasias10.3
12multicystic dysplastic kidney10.3
13congenital hydronephrosis10.3
14goldberg-shprintzen megacolon syndrome10.3
15insulinoma10.0
16hemoglobinopathy10.0
17hemoglobin ss10.0
18endotheliitis10.0

Graphical network of diseases related to Schinzel Giedion Syndrome:



Diseases related to schinzel giedion syndrome

Symptoms for Schinzel Giedion Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

269150

Clinical features from OMIM:

269150

Symptoms:

49 (show all 71)
  • camptodactyly of fingers
  • clavicle absent/abnormal
  • scoliosis
  • sacrococcygeal teratoma
  • inguinal/inguinoscrotal/crural hernia
  • mesomelic micromelia
  • strabismus/squint
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • congenital alacrimia
  • microcornea
  • corneal clouding/opacity/vascularisation
  • micrognathia/retrognathia/micrognathism/retrognathism
  • wormian bones
  • brachycephaly/flat occiput
  • death in infancy
  • radioulnar synostosis
  • small hand/acromicria
  • polyhydramnios
  • neoplasms/tumors
  • hypotonia
  • dilated cerebral ventricles without hydrocephaly
  • hypothyroidy
  • megacalicosis
  • laryngomalacia
  • thin/hypoplastic/hyperconvex fingernails
  • hirsutism/hypertrichosis/increased body hair
  • small foot
  • pes talus
  • talipes-varus/metatarsal varus
  • upper limb polydactyly/hexadactyly
  • metacarpal anomalies/archibald's sign
  • stillbirth/neonatal death
  • cortical anomaly/thick bone cortical layer
  • bowed diaphysis/diaphyses/long bones
  • micropenis/small penis/agenesis
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • vesicorenal/vesicoureteral reflux
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • short neck
  • sensorineural deafness/hearing loss
  • prominent/bat ears
  • low set ears/posteriorly rotated ears
  • anteverted nares/nostrils
  • short/small nose
  • palpebral edema/periorbital edema
  • mild visual loss/impaired visual acuity
  • mid-facial hypoplasia/short/small midface
  • hypertelorism
  • coarse face
  • narrow forehead
  • frontal bossing/prominent forehead
  • hypospadias/epispadias/bent penis
  • hypertonia/spasticity/rigidity/stiffness
  • abnormal/absent ossification
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • congenital cardiac anomaly/malformation/cardiopathy
  • terminal/third phalangeal bone of fingers hypoplasia
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • anomalies of the ribs
  • excess nuchal skin without pterygium colli
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • choanal atresia
  • depressed nasal bridge
  • proptosis/exophthalmos
  • poorly ossified skull/calvarium
  • microcephaly
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Schinzel Giedion Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Schinzel Giedion Syndrome

Search NIH Clinical Center for Schinzel Giedion Syndrome

Genetic Tests for Schinzel Giedion Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Schinzel Giedion Syndrome:

id Genetic test Affiliating Genes
1 Schinzel-Giedion Midface Retraction Syndrome20 SETBP1
2 Schinzel-Giedion Syndrome22

Anatomical Context for Schinzel Giedion Syndrome

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33MalaCards
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MalaCards organs/tissues related to Schinzel Giedion Syndrome:

33
Kidney, Bone, Testes, Skin, Tongue, Brain

Animal Models for Schinzel Giedion Syndrome or affiliated genes

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Publications for Schinzel Giedion Syndrome

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52PubMed
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Articles related to Schinzel Giedion Syndrome:

(show all 41)
idTitleAuthorsYear
1
Cobblestone lissencephaly in Schinzel-Giedion syndrome. (22532548)
2013
2
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. (23400866)
2013
3
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. (21507589)
2012
4
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. (22473152)
2012
5
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. (21037274)
2011
6
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (21371013)
2011
7
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (20436468)
2010
8
SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome. (20718797)
2010
9
Scoliosis in a case of Schinzel-Giedion syndrome. (19533249)
2009
10
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. (18398855)
2008
11
Clinical and radiological findings in Schinzel-Giedion syndrome. (18461363)
2008
12
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. (17165030)
2007
13
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome. (16409612)
2005
14
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. (15122424)
2004
15
Schinzel-Giedion syndrome: a further cause of West syndrome. (12767465)
2003
16
Schinzel-Giedion syndrome and alacrima: a case first described in 1996. (12833418)
2003
17
Schinzel-Giedion syndrome with sacrococcygeal teratoma. (12847324)
2003
18
Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management. (11853250)
2002
19
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. (11977181)
2002
20
Schinzel-Giedion syndrome. (11328425)
2001
21
A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. (11285076)
2001
22
Schinzel-Giedion syndrome with severe deafness and neurodegenerative process. (10674163)
1999
23
Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. (10532180)
1999
24
Schinzel-Giedion syndrome: evidence for a neurodegenerative process. (10051170)
1999
25
Sacral tumors in Schinzel-Giedion syndrome. (9738870)
1998
26
Schinzel-Giedion syndrome: further delineation of the phenotype. (8723563)
1996
27
Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype. (8946113)
1996
28
A Croatian case of the Schinzel-Giedion syndrome. (8652084)
1996
29
Schinzel-Giedion syndrome: report of two sibs. (8849020)
1995
30
A patient with Schinzel-Giedion syndrome and a review of 20 patients. (7662999)
1995
31
Three new cases of the Schinzel-Giedion syndrome and review of the literature. (8160760)
1994
32
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. (7917131)
1994
33
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. (7864048)
1994
34
Schinzel-Giedion syndrome. (7883373)
1994
35
Schinzel-Giedion syndrome and congenital megacalyces. (8516031)
1993
36
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. (7506484)
1993
37
Schinzel-Giedion syndrome. (8319710)
1993
38
Neurosonography and pathology in the Schinzel-Giedion syndrome. (1920374)
1991
39
The Schinzel-Giedion syndrome. A case report and review of the literature. (2184969)
1990
40
The Schinzel-Giedion syndrome. (2407846)
1990
41
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. (7086596)
1982

Variations for Schinzel Giedion Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Schinzel Giedion Syndrome:

64
id Symbol AA change Variation ID SNP ID
1SETBP1p.Asp868AlaVAR_063806
2SETBP1p.Asp868AsnVAR_063807
3SETBP1p.Gly870AspVAR_063808
4SETBP1p.Gly870SerVAR_063809
5SETBP1p.Ile871ThrVAR_063810

Clinvar genetic disease variations for Schinzel Giedion Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SETBP1NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr)single nucleotide variantPathogenicrs267607038GRCh37Chr 18, 42531917: 42531917
2SETBP1NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn)single nucleotide variantPathogenicrs267607042GRCh37Chr 18, 42531907: 42531907
3SETBP1NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala)single nucleotide variantPathogenicrs267607041GRCh37Chr 18, 42531908: 42531908
4SETBP1NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp)single nucleotide variantPathogenicrs267607039GRCh37Chr 18, 42531914: 42531914
5SETBP1NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser)single nucleotide variantPathogenicrs267607040GRCh37Chr 18, 42531913: 42531913

Expression for genes affiliated with Schinzel Giedion Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Schinzel Giedion Syndrome

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Pathways for genes affiliated with Schinzel Giedion Syndrome

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Compounds for genes affiliated with Schinzel Giedion Syndrome

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GO Terms for genes affiliated with Schinzel Giedion Syndrome

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Products for genes affiliated with Schinzel Giedion Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Schinzel Giedion Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet