Goldberg-Shprintzen Megacolon Syndrome malady

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

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

About this section
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Goldberg-Shprintzen Megacolon Syndrome:

Name: Goldberg-Shprintzen Megacolon Syndrome 49 11 45 22 51 24 65 67
Goshs 45 22 51 67
Goldberg-Shprintzen Syndrome 45 67
Megacolon - Microcephaly 51


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM49 609460
Orphanet51 66629
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537279
UMLS via Orphanet66 C1836123
MedGen34 C1836123

Summaries for Goldberg-Shprintzen Megacolon Syndrome

About this section
OMIM:49 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 goshs, is related to shprintzen-goldberg syndrome and mowat-wilson syndrome, and has symptoms including cleft palate, microcephaly and aganglionic megacolon. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIF1BP (KIF1 Binding Protein). Affiliated tissues include eye and brain.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Goldberg-Shprintzen syndrome: A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease.

Related Diseases for Goldberg-Shprintzen Megacolon Syndrome

About this section

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome30.4KIF1BP, SKI
2mowat-wilson syndrome10.5
4axonal neuropathy10.5
7hirschsprung disease 110.4
11cerebellar hypoplasia10.4
14combined sap deficiency9.7KIF1BP, SKI

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

Diseases related to goldberg-shprintzen megacolon syndrome

Symptoms for Goldberg-Shprintzen Megacolon Syndrome

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 51 (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 56)
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 muscular hypotonia HP:0001252
43 global developmental delay HP:0001263
44 pachygyria HP:0001302
45 hypoplasia of the corpus callosum HP:0002079
46 polymicrogyria HP:0002126
47 aganglionic megacolon HP:0002251
48 hypoplasia of the brainstem HP:0002365
49 highly arched eyebrow HP:0002553
50 wide intermamillary distance HP:0006610
51 sparse hair HP:0008070
52 thick vermilion border HP:0012471
53 corneal ulceration HP:0012804
54 clinodactyly HP:0030084
55 corneal erosion HP:0200020
56 small hand HP:0200055

Drugs & Therapeutics for Goldberg-Shprintzen Megacolon Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Goldberg-Shprintzen Megacolon Syndrome

Genetic Tests for Goldberg-Shprintzen Megacolon Syndrome

About this section

Genetic tests related to Goldberg-Shprintzen Megacolon Syndrome:

id Genetic test Affiliating Genes
1 Goldberg-Shprintzen Megacolon Syndrome22 24

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

About this section

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

Eye, Brain

Animal Models for Goldberg-Shprintzen Megacolon Syndrome or affiliated genes

About this section

Publications for Goldberg-Shprintzen Megacolon Syndrome

About this section

Articles related to Goldberg-Shprintzen Megacolon Syndrome:

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

Variations for Goldberg-Shprintzen Megacolon Syndrome

About this section

Clinvar genetic disease variations for Goldberg-Shprintzen Megacolon Syndrome:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1KIF1BPNM_015634.3(KIF1BP): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs121434514GRCh37Chr 10, 70748856: 70748856
2KIF1BPNM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs121434515GRCh37Chr 10, 70748838: 70748838
3KIF1BPNM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs730882150GRCh37Chr 10, 70764875: 70764875
4KIF1BPNM_015634.3(KIF1BP): c.604_605delAG (p.Arg202Ilefs)deletionPathogenicrs730882151GRCh37Chr 10, 70764880: 70764881
5KIF1BPNC_000010.11deletionPathogenicGRCh38Chr 10, 68989259: 69005731
6SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
7SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
8SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
9SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
10SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
11SKINM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
12SKINM_003036.3(SKI): c.101G> T (p.Gly34Val)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
13SKINM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
14SKINM_003036.3(SKI): c.104C> A (p.Pro35Gln)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
15SKINM_003036.3(SKI): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs397514590GRCh37Chr 1, 2160308: 2160308

Expression for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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

Pathways for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

About this section

GO Terms for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

About this section

Sources for Goldberg-Shprintzen Megacolon Syndrome

About this section
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet