SGS
MCID: SCH024
MIFTS: 38

Schinzel Giedion Syndrome (SGS) malady

Neuronal diseases, Nephrological diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Schinzel Giedion Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 shprintzen-goldberg syndrome, and has symptoms including strabismus/squint, clavicle absent/abnormal and scoliosis. An important gene associated with Schinzel Giedion Syndrome is SETBP1 (SET binding protein 1). Affiliated tissues include bone, kidney 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:46 269150

Aliases & Classifications for Schinzel Giedion Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
schinzel-giedion syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

schinzel giedion syndrome 42 21
schinzel-giedion syndrome 42 22 21 48 60
schinzel-giedion midface retraction syndrome 21 46
schinzel giedion midface-retraction syndrome 42 20
sgs 42


External Ids:

OMIM46 269150
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 18899000

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 12)
idRelated DiseaseScoreTop Affiliating Genes
1hydronephrosis10.5
2shprintzen-goldberg syndrome10.3
3early myoclonic encephalopathy10.3
4lissencephaly10.3
5west syndrome10.3
6diabetes insipidus10.3
7gingivitis10.3
8hypothyroidism10.3
9malignant teratoma10.3
10goldberg-shprintzen megacolon syndrome10.2
11insulinoma10.0
12hemoglobinopathy10.0

Graphical network of diseases related to Schinzel Giedion Syndrome:



Diseases related to schinzel giedion syndrome

Clinical Features for Schinzel Giedion Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

269150

Clinical synopsis from OMIM:

269150

Symptoms:

48 (show all 71)
  • strabismus/squint
  • clavicle absent/abnormal
  • scoliosis
  • sacrococcygeal teratoma
  • upper limb polydactyly/hexadactyly
  • inguinal/inguinoscrotal/crural hernia
  • 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
  • stillbirth/neonatal death
  • mesomelic micromelia
  • 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
  • camptodactyly of fingers
  • metacarpal anomalies/archibald's sign
  • 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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Schinzel Giedion Syndrome:

32
Bone, Kidney, Testes, Skin, Tongue

Animal Models for Schinzel Giedion Syndrome or affiliated genes

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Publications for Schinzel Giedion Syndrome

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Genetic Variations for Schinzel Giedion Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Schinzel Giedion Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SETBP1p.Asp868AlaVAR_063806
2SETBP1p.Asp868AsnVAR_063807
3SETBP1p.Gly870AspVAR_063808
4SETBP1p.Gly870SerVAR_063809
5SETBP1p.Ile871ThrVAR_063810

Expression for genes affiliated with Schinzel Giedion Syndrome

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet