MCID: GLD002
MIFTS: 32

Goldberg-Shprintzen Megacolon Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Goldberg-Shprintzen Megacolon Syndrome, Aliases & Descriptions:

Name: Goldberg-Shprintzen Megacolon Syndrome 45 10 41 20 47 22 60
Goldberg-Shprintzen Syndrome 45 41
 
Megacolon - Microcephaly 41 47
Goshs 41 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
goldberg-shprintzen megacolon syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 609460
Orphanet47 66629
MESH via Orphanet34 C537279
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1836123

Summaries for Goldberg-Shprintzen Megacolon Syndrome

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OMIM:45 Goldberg-Shprintzen syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by... (609460) more...

MalaCards based summary: Goldberg-Shprintzen Megacolon Syndrome, also known as goldberg-shprintzen syndrome, is related to mowat-wilson syndrome and microcephaly, and has symptoms including cleft palate, microcephaly and aganglionic megacolon. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIAA1279 (KIAA1279). Affiliated tissues include eye and brain, and related mouse phenotype mortality/aging.

NIH Rare Diseases:41 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

Related Diseases for Goldberg-Shprintzen Megacolon Syndrome

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Diseases related to Goldberg-Shprintzen Megacolon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1mowat-wilson syndrome10.5
2microcephaly10.5
3shprintzen-goldberg syndrome10.5
4axonal neuropathy10.5
5megacolon10.5
6neuropathy10.5
7hirschsprung disease 110.3
8neuronitis10.3
9coloboma10.3
10ptosis10.3
11cerebellar hypoplasia10.3
12pachygyria10.3
13mental retardation10.3
14hypotonia10.3

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



Diseases related to goldberg-shprintzen megacolon syndrome

Symptoms for Goldberg-Shprintzen Megacolon Syndrome

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Symptoms by clinical synopsis from OMIM:

609460

Clinical features from OMIM:

609460

Symptoms:

 47 (show all 23)
  • microcephaly
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • coloboma of iris
  • ptosis
  • hypotonia
  • sloping forehead
  • hypertelorism
  • 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
  • dilated cerebral ventricles without hydrocephaly
  • 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

HPO human phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

(show all 55)
id Description Frequency HPO Source Accession
1 cleft palate hallmark (90%) HP:0000175
2 microcephaly hallmark (90%) HP:0000252
3 aganglionic megacolon hallmark (90%) HP:0002251
4 short stature hallmark (90%) HP:0004322
5 cognitive impairment hallmark (90%) HP:0100543
6 ptosis typical (50%) HP:0000508
7 iris coloboma typical (50%) HP:0000612
8 muscular hypotonia typical (50%) HP:0001252
9 pointed chin occasional (7.5%) HP:0000307
10 hypertelorism occasional (7.5%) HP:0000316
11 sloping forehead occasional (7.5%) HP:0000340
12 macrotia occasional (7.5%) HP:0000400
13 wide nasal bridge occasional (7.5%) HP:0000431
14 seizures occasional (7.5%) HP:0001250
15 ventriculomegaly occasional (7.5%) HP:0002119
16 cerebral cortical atrophy occasional (7.5%) HP:0002120
17 abnormality of neuronal migration occasional (7.5%) HP:0002269
18 finger syndactyly occasional (7.5%) HP:0006101
19 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
20 abnormal hair quantity occasional (7.5%) HP:0011362
21 displacement of the external urethral meatus occasional (7.5%) HP:0100627
22 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
23 autosomal recessive inheritance HP:0000007
24 everted lower lip vermilion HP:0000232
25 microcephaly HP:0000252
26 short philtrum HP:0000322
27 hypoplasia of the maxilla HP:0000327
28 low-set ears HP:0000369
29 bulbous nose HP:0000414
30 prominent nasal bridge HP:0000426
31 wide nasal bridge HP:0000431
32 short neck HP:0000470
33 megalocornea HP:0000485
34 downslanted palpebral fissures HP:0000494
35 telecanthus HP:0000506
36 ptosis HP:0000508
37 thick eyebrow HP:0000574
38 blue sclerae HP:0000592
39 synophrys HP:0000664
40 tapered finger HP:0001182
41 intellectual disability HP:0001249
42 global developmental delay HP:0001263
43 pachygyria HP:0001302
44 hypoplasia of the corpus callosum HP:0002079
45 polymicrogyria HP:0002126
46 aganglionic megacolon HP:0002251
47 hypoplasia of the brainstem HP:0002365
48 highly arched eyebrow HP:0002553
49 wide intermamillary distance HP:0006610
50 sparse hair HP:0008070
51 thick vermilion border HP:0012471
52 corneal ulceration HP:0012804
53 clinodactyly HP:0030084
54 corneal erosion HP:0200020
55 small hand HP:0200055

Drugs & Therapeutics for Goldberg-Shprintzen Megacolon Syndrome

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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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Genetic tests related to Goldberg-Shprintzen Megacolon Syndrome:

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

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

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

31
Eye, Brain

Animal Models for Goldberg-Shprintzen Megacolon Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1SKI, KIAA1279

Publications for Goldberg-Shprintzen Megacolon Syndrome

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Articles related to Goldberg-Shprintzen Megacolon Syndrome:

idTitleAuthorsYear
1
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. (25846562)
2015

Variations for Goldberg-Shprintzen Megacolon Syndrome

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Clinvar genetic disease variations for Goldberg-Shprintzen Megacolon Syndrome:

6 (show all 12)
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Goldberg-Shprintzen Megacolon Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet