Goldberg-Shprintzen Megacolon Syndrome malady

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

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

About this section
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Goldberg-Shprintzen Megacolon Syndrome:

Name: Goldberg-Shprintzen Megacolon Syndrome 52 48 24 54 70 27 12 68
Goshs 48 24 54 70
Goldberg-Shprintzen Syndrome 48 70
Megacolon-Microcephaly Syndrome 54


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:

OMIM52 609460
Orphanet54 ORPHA66629
MESH via Orphanet40 C537279
UMLS via Orphanet69 C1836123
ICD10 via Orphanet31 Q87.8
MedGen37 C1836123

Summaries for Goldberg-Shprintzen Megacolon Syndrome

About this section
OMIM:52 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.

UniProtKB/Swiss-Prot:70 Goldberg-Shprintzen syndrome: A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease.

NIH Rare Diseases:48 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome11.5
3axonal neuropathy10.1

Symptoms & Phenotypes for Goldberg-Shprintzen Megacolon Syndrome

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

 64 54 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate64 54 hallmark (90%) Very frequent (99-80%) HP:0000175
2 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
3 aganglionic megacolon64 54 hallmark (90%) Very frequent (99-80%) HP:0002251
4 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cognitive impairment64 hallmark (90%) HP:0100543
6 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
7 iris coloboma64 54 typical (50%) Frequent (79-30%) HP:0000612
8 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
9 pointed chin64 54 occasional (7.5%) Occasional (29-5%) HP:0000307
10 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
11 sloping forehead64 54 occasional (7.5%) Occasional (29-5%) HP:0000340
12 macrotia64 54 occasional (7.5%) Occasional (29-5%) HP:0000400
13 wide nasal bridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000431
14 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
15 ventriculomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002119
16 cerebral cortical atrophy64 occasional (7.5%) HP:0002120
17 abnormality of neuronal migration64 occasional (7.5%) HP:0002269
18 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
19 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
20 abnormal hair quantity64 occasional (7.5%) HP:0011362
21 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
22 aplasia/hypoplasia of the eyebrow64 occasional (7.5%) HP:0100840
23 everted lower lip vermilion64 HP:0000232
24 short philtrum64 HP:0000322
25 hypoplasia of the maxilla64 HP:0000327
26 low-set ears64 HP:0000369
27 bulbous nose64 HP:0000414
28 prominent nasal bridge64 HP:0000426
29 short neck64 HP:0000470
30 megalocornea64 HP:0000485
31 downslanted palpebral fissures64 HP:0000494
32 telecanthus64 HP:0000506
33 thick eyebrow64 HP:0000574
34 blue sclerae64 HP:0000592
35 synophrys64 HP:0000664
36 tapered finger64 HP:0001182
37 intellectual disability64 54 Very frequent (99-80%) HP:0001249
38 global developmental delay64 HP:0001263
39 pachygyria64 54 Occasional (29-5%) HP:0001302
40 hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0002079
41 polymicrogyria64 HP:0002126
42 hypoplasia of the brainstem64 HP:0002365
43 highly arched eyebrow64 HP:0002553
44 wide intermamillary distance64 HP:0006610
45 sparse hair64 HP:0008070
46 thick vermilion border64 HP:0012471
47 corneal ulceration64 HP:0012804
48 clinodactyly64 HP:0030084
49 corneal erosion64 HP:0200020
50 small hand64 HP:0200055
51 hypospadias54 Occasional (29-5%)
52 bifid scrotum54 Occasional (29-5%)
53 sparse eyebrow54 Occasional (29-5%)
54 specific learning disability54 Very frequent (99-80%)
55 sparse scalp hair54 Occasional (29-5%)

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 Syndrome27 24

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

About this section

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

Eye, Brain

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:

id Gene Variation Type Significance SNP ID Assembly Location
1KIF1BPNM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter)SNVPathogenicrs730882150GRCh37Chr 10, 70764875: 70764875

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
31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet