SGS
MCID: GLD002
MIFTS: 42

Goldberg-Shprintzen Megacolon Syndrome (SGS) malady

Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hyperelastic skin/cutaneous hyperlaxity, autosomal dominant inheritance and failure to thrive/difficulties for feeding in infancy/growth delay. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIAA1279 (KIAA1279). Affiliated tissues include skin, eye and skeletal muscle.

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:46 182212,609460

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,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 42 20 22 46 48 60
shprintzen-goldberg syndrome 21 46 48 60
goldberg-shprintzen syndrome 42 20 22
goshs 42 48
shprintzen-goldberg craniosynostosis syndrome 21
marfanoid craniosynostosis syndrome 48
marfanoid-craniosynostosis syndrome 21
megacolon - microcephaly 48
sgs 48


External Ids:

MESH via Orphanet35 C537328, C537279
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 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 17)
idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome11.0
2mowat-wilson syndrome10.6
3microcephaly10.4
4aortic aneurysm10.4
5craniosynostosis10.4
6hirschsprung's disease10.4
7coloboma10.3
8neuronitis10.3
9tetralogy of fallot10.3
10brain disease10.3
11hydrocephalus10.3
12iris disease10.3
13image syndrome10.3
14omphalocele10.3
15insulinoma10.0
16hemoglobinopathy10.0
17schinzel giedion syndrome10.0

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



Diseases related to goldberg-shprintzen megacolon syndrome

Clinical Features for Goldberg-Shprintzen Megacolon Syndrome

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

182212,609460

Clinical synopsis from OMIM:

182212

Symptoms:

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

Drugs & Therapeutics for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Goldberg-Shprintzen Megacolon Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Goldberg-Shprintzen Megacolon Syndrome

Search CenterWatch for Goldberg-Shprintzen Megacolon Syndrome

Genetic Tests for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
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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32MalaCards
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MalaCards organs/tissues related to Goldberg-Shprintzen Megacolon Syndrome:

32
Skin, Eye, Skeletal muscle, Bone, Testes

Animal Models for Goldberg-Shprintzen Megacolon Syndrome or affiliated genes

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Publications for Goldberg-Shprintzen Megacolon Syndrome

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Genetic Variations for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Goldberg-Shprintzen Megacolon Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys1223TyrVAR_002321rs137854469

Expression for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Sources:
1BioGPS, 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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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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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