SGS
MCID: GLD002
MIFTS: 46

Goldberg-Shprintzen Megacolon Syndrome (SGS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Goldberg-shprintzen megacolon syndrome is a very rare genetic condition characterized by hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. this condition has been described in about 15 individuals to date. some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. one of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. this condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the kiaa1279 gene. last updated: 3/6/2013

MalaCards: Goldberg-Shprintzen Megacolon Syndrome, also known as shprintzen-goldberg syndrome, is related to shprintzen-goldberg syndrome and mowat-wilson syndrome, and has symptoms including strabismus/squint, telecanthus/canthal dystopy and hypotrichosis/atrichia/atrichiasis/scalp hairlessness. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIAA1279 (KIAA1279). The compounds vitamin d and tgf beta1 have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and skeletal muscle, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Genetics Home Reference:21 Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities.

Description from OMIM:47 182212,609460

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
goldberg-shprintzen megacolon syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

goldberg-shprintzen megacolon syndrome 43 20 22 47 49 62
shprintzen-goldberg syndrome 21 47 49 62
goldberg-shprintzen syndrome 43 20 22
goshs 43 49
shprintzen-goldberg craniosynostosis syndrome 21
marfanoid-craniosynostosis syndrome 21
marfanoid craniosynostosis syndrome 49
megacolon - microcephaly 49
sgs 49


External Ids:

MESH via Orphanet36 C537328, C537279
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C1321551, C1836123

Related Diseases for Goldberg-Shprintzen Megacolon Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Goldberg-Shprintzen Megacolon Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome11.1
2mowat-wilson syndrome10.6
3craniosynostosis, syndromic10.6
4microcephaly10.5
5aortic aneurysm10.5
6craniosynostosis10.5
7aneurysm10.5
8hirschsprung's disease10.4
9neuronitis10.3
10tetralogy of fallot10.3
11coloboma10.3
12hydrocephalus10.3
13cerebellar hypoplasia10.3
14pachygyria10.3
15mental retardation10.3
16hypotonia10.3
17omphalocele10.3
18schinzel giedion syndrome10.2
19insulinoma10.0
20hemoglobinopathy10.0
21hemoglobin ss10.0
22endotheliitis10.0

Graphical network of the top 20 diseases related to Goldberg-Shprintzen Megacolon Syndrome:



Diseases related to goldberg-shprintzen megacolon syndrome

Symptoms for Goldberg-Shprintzen Megacolon Syndrome

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

182212

Clinical features from OMIM:

182212,609460

Symptoms:

49 (show all 71)
  • strabismus/squint
  • telecanthus/canthal dystopy
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • myopia
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • coloboma of iris
  • rib number anomalies
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • dilated cerebral ventricles without hydrocephaly
  • prominent/bat ears
  • talipes-varus/metatarsal varus
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • broad nasal root
  • dolichocephaly/scaphocephaly
  • long hand/arachnodactyly
  • marfanoid morphotype
  • communicating hydrocephaly
  • sloping forehead
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • hyperelastic skin/cutaneous hyperlaxity
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • camptodactyly of some fingers
  • absent/decreased/thin eyebrows
  • proptosis/exophthalmos
  • arnold-chiari anomaly
  • pointed chin
  • hypospadias/epispadias/bent penis
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • craniostenosis/craniosynostosis/sutural synostosis
  • elbow dislocation
  • high forehead
  • large fontanelle/delayed fontanelle closure
  • conductive deafness/hearing loss
  • hyperextensible joints/articular hyperlaxity
  • frontal bossing/prominent forehead
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • ptosis
  • apnea/sleep apnea
  • autosomal dominant inheritance
  • seizures/epilepsy/absences/spasms/status epilepticus
  • scoliosis
  • hypertelorism
  • low set ears/posteriorly rotated ears
  • pectus excavatum
  • syndactyly of fingers/interdigital palm
  • genu valgum
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • high vaulted/narrow palate
  • hypotonia
  • short stature/dwarfism/nanism
  • microcephaly
  • absent/hypotonic/flaccid abdominal wall muscles
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • metaphyseal anomaly
  • anteverted nares/nostrils
  • restricted joint mobility/joint stiffness/ankylosis
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • long/large ear
  • inguinal/inguinoscrotal/crural hernia
  • bowed diaphysis/diaphyses/long bones
  • umbilical hernia
  • pectus carinatum
  • abnormal vertebral size/shape
  • flat foot
  • narrow rib cage/thorax

Drugs & Therapeutics for Goldberg-Shprintzen Megacolon Syndrome

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

Search ClinicalTrials for Goldberg-Shprintzen Megacolon Syndrome

Search NIH Clinical Center for Goldberg-Shprintzen Megacolon Syndrome

Genetic Tests for Goldberg-Shprintzen Megacolon Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Goldberg-Shprintzen Megacolon Syndrome:

id Genetic test Affiliating Genes
1 Shprintzen-Goldberg Syndrome20 22 SKI
2 Goldberg-Shprintzen Megacolon Syndrome20 22 KIAA1279

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

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33MalaCards
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MalaCards organs/tissues related to Goldberg-Shprintzen Megacolon Syndrome:

33
Eye, Skin, Skeletal muscle, Bone, Testes

Animal Models for Goldberg-Shprintzen Megacolon Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1SKI, FBN1
2MP:00053718.8SKI, FBN1
3MP:00107688.4SKI, KIAA1279, FBN1

Publications for Goldberg-Shprintzen Megacolon Syndrome

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Variations for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Goldberg-Shprintzen Megacolon Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys1223TyrVAR_002321rs137854469

Clinvar genetic disease variations for Goldberg-Shprintzen Megacolon Syndrome:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1KIAA1279NM_015634.3(KIAA1279): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs121434514GRCh37Chr 10, 70748856: 70748856
2KIAA1279NM_015634.3(KIAA1279): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs121434515GRCh37Chr 10, 70748838: 70748838
3SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
4SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
5SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
6SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
7SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
8SKINM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
9SKINM_003036.3(SKI): c.101G> T (p.Gly34Val)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
10SKINM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
11SKINM_003036.3(SKI): c.104C> A (p.Pro35Gln)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
12SKINM_003036.3(SKI): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs397514590GRCh37Chr 1, 2160308: 2160308

Expression for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

Search GEO for disease gene expression data for Goldberg-Shprintzen Megacolon Syndrome.

Pathways for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Compounds for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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45Novoseek
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Compounds related to Goldberg-Shprintzen Megacolon Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d459.1SKI, FBN1
2tgf beta1458.8SKI, FBN1

GO Terms for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Products for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Goldberg-Shprintzen Megacolon 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