SGS
MCID: GLD002
MIFTS: 35

Goldberg-Shprintzen Megacolon Syndrome (SGS) malady

Neuronal, Eye, Bone, Fetal categories

Summaries for Goldberg-Shprintzen Megacolon Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 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 dolichocephaly/scaphocephaly, hypertelorism and downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIAA1279 (KIAA1279). Affiliated tissues include skeletal muscle and skin.

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

Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 47 49 61
shprintzen-goldberg syndrome 21 47 49 61
goldberg-shprintzen syndrome 43 20 22
goshs 43 49
shprintzen-goldberg craniosynostosis syndrome 21
marfanoid craniosynostosis syndrome 49
marfanoid-craniosynostosis syndrome 21
megacolon - microcephaly 49
sgs 49


External Ids:

MESH via Orphanet36 C537328, C537279
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1836123

Related Diseases for Goldberg-Shprintzen Megacolon Syndrome

Sources:
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 20)
idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome11.0
2mowat-wilson syndrome10.6
3micro syndrome10.5
4marfan syndrome10.4
5microcephaly10.4
6aortic aneurysm10.4
7hirschsprung's disease10.4
8coloboma10.3
9n syndrome10.3
10brain disease10.3
11char syndrome10.3
12pachygyria10.3
13cerebellar hypoplasia10.3
14hypotonia10.3
15omphalocele10.3
16monosomy 2210.3
17alpha thalassemia10.0
18insulinoma10.0
19thalassemia10.0
20schinzel 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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

182212,609460

Clinical synopsis from OMIM:

182212

Symptoms:

49 (show all 71)
  • dolichocephaly/scaphocephaly
  • hypertelorism
  • 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
  • flat foot
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • marfanoid morphotype
  • craniostenosis/craniosynostosis/sutural synostosis
  • frontal bossing/prominent forehead
  • high forehead
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • strabismus/squint
  • ptosis
  • pectus carinatum
  • pectus excavatum
  • scoliosis
  • 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
  • hyperextensible joints/articular hyperlaxity
  • microcephaly
  • 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
  • absent/hypotonic/flaccid abdominal wall muscles
  • genu valgum
  • hyperelastic skin/cutaneous hyperlaxity
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • apnea/sleep apnea
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • arnold-chiari anomaly
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • metaphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • restricted joint mobility/joint stiffness/ankylosis
  • elbow dislocation
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • short stature/dwarfism/nanism
  • coloboma of iris
  • sloping forehead
  • pointed chin
  • absent/decreased/thin eyebrows
  • broad nasal root
  • long/large ear
  • syndactyly of fingers/interdigital palm
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • hypospadias/epispadias/bent penis
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus

Drugs & Therapeutics for Goldberg-Shprintzen Megacolon Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Goldberg-Shprintzen Megacolon Syndrome

Drug clinical trials:

Search ClinicalTrials for Goldberg-Shprintzen Megacolon Syndrome

Search NIH Clinical Center for Goldberg-Shprintzen Megacolon Syndrome

Search CenterWatch for Goldberg-Shprintzen Megacolon Syndrome

Genetic Tests for Goldberg-Shprintzen Megacolon Syndrome

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

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

33
Skeletal muscle, Skin

Animal Models for Goldberg-Shprintzen Megacolon Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Goldberg-Shprintzen Megacolon Syndrome

Genetic Variations for Goldberg-Shprintzen Megacolon Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Goldberg-Shprintzen Megacolon Syndrome:

63
id Symbol AA change Variation SNP ID
1p.Cys1223TyrVAR_002321rs137854469

Expression for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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

Compounds for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

GO Terms for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

Products for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Goldberg-Shprintzen Megacolon Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet