Goldberg-Shprintzen Megacolon Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

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49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Goldberg-Shprintzen Megacolon Syndrome:

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


Orphanet epidemiological data:

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


goldberg-shprintzen megacolon syndrome:
Inheritance: autosomal recessive inheritance


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

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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 megacolon, 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.

Disease Ontology:10 A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.

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

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

idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome11.7
3axonal neuropathy10.3

Symptoms for Goldberg-Shprintzen Megacolon Syndrome

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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 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 everted lower lip vermilion HP:0000232
24 microcephaly HP:0000252
25 short philtrum HP:0000322
26 hypoplasia of the maxilla HP:0000327
27 low-set ears HP:0000369
28 bulbous nose HP:0000414
29 prominent nasal bridge HP:0000426
30 wide nasal bridge HP:0000431
31 short neck HP:0000470
32 megalocornea HP:0000485
33 downslanted palpebral fissures HP:0000494
34 telecanthus HP:0000506
35 ptosis HP:0000508
36 thick eyebrow HP:0000574
37 blue sclerae HP:0000592
38 synophrys HP:0000664
39 tapered finger HP:0001182
40 intellectual disability HP:0001249
41 muscular hypotonia HP:0001252
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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 KIF1BP

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

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

Eye, Brain

Animal Models for Goldberg-Shprintzen Megacolon Syndrome or affiliated genes

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Publications for Goldberg-Shprintzen Megacolon Syndrome

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Articles related to Goldberg-Shprintzen Megacolon Syndrome:

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

Variations for Goldberg-Shprintzen Megacolon Syndrome

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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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GO Terms for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Sources for Goldberg-Shprintzen Megacolon Syndrome

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