MCID: GLD002
MIFTS: 27

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

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Goldberg-Shprintzen Megacolon Syndrome:

Name: Goldberg-Shprintzen Megacolon Syndrome 51 47 24 53 69 26 12 67
Goshs 47 24 53 69
 
Goldberg-Shprintzen Syndrome 47 69
Megacolon-Microcephaly Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
goldberg-shprintzen megacolon syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
goldberg-shprintzen megacolon syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 609460
Orphanet53 ORPHA66629
MESH via Orphanet39 C537279
UMLS via Orphanet68 C1836123
ICD10 via Orphanet30 Q87.8
MedGen36 C1836123

Summaries for Goldberg-Shprintzen Megacolon Syndrome

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OMIM:51 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:69 Goldberg-Shprintzen syndrome: A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease.

NIH Rare Diseases:47 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:

idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome11.5
2megacolon10.1
3axonal neuropathy10.1
4neuropathy10.1

Symptoms for Goldberg-Shprintzen Megacolon Syndrome

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Symptoms by clinical synopsis from OMIM:

609460

Clinical features from OMIM:

609460

Human phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

 63 53 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate63 53 hallmark (90%) Very frequent (99-80%) HP:0000175
2 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
3 aganglionic megacolon63 53 hallmark (90%) Very frequent (99-80%) HP:0002251
4 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cognitive impairment63 hallmark (90%) HP:0100543
6 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
7 iris coloboma63 53 typical (50%) Frequent (79-30%) HP:0000612
8 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
9 pointed chin63 53 occasional (7.5%) Occasional (29-5%) HP:0000307
10 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
11 sloping forehead63 53 occasional (7.5%) Occasional (29-5%) HP:0000340
12 macrotia63 53 occasional (7.5%) Occasional (29-5%) HP:0000400
13 wide nasal bridge63 53 occasional (7.5%) Occasional (29-5%) HP:0000431
14 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
15 ventriculomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002119
16 cerebral cortical atrophy63 occasional (7.5%) HP:0002120
17 abnormality of neuronal migration63 occasional (7.5%) HP:0002269
18 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
19 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
20 abnormal hair quantity63 occasional (7.5%) HP:0011362
21 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
22 aplasia/hypoplasia of the eyebrow63 occasional (7.5%) HP:0100840
23 everted lower lip vermilion63 HP:0000232
24 short philtrum63 HP:0000322
25 hypoplasia of the maxilla63 HP:0000327
26 low-set ears63 HP:0000369
27 bulbous nose63 HP:0000414
28 prominent nasal bridge63 HP:0000426
29 short neck63 HP:0000470
30 megalocornea63 HP:0000485
31 downslanted palpebral fissures63 HP:0000494
32 telecanthus63 HP:0000506
33 thick eyebrow63 HP:0000574
34 blue sclerae63 HP:0000592
35 synophrys63 HP:0000664
36 tapered finger63 HP:0001182
37 intellectual disability63 53 Very frequent (99-80%) HP:0001249
38 global developmental delay63 HP:0001263
39 pachygyria63 53 Occasional (29-5%) HP:0001302
40 hypoplasia of the corpus callosum63 53 Occasional (29-5%) HP:0002079
41 polymicrogyria63 HP:0002126
42 hypoplasia of the brainstem63 HP:0002365
43 highly arched eyebrow63 HP:0002553
44 wide intermamillary distance63 HP:0006610
45 sparse hair63 HP:0008070
46 thick vermilion border63 HP:0012471
47 corneal ulceration63 HP:0012804
48 clinodactyly63 HP:0030084
49 corneal erosion63 HP:0200020
50 small hand63 HP:0200055
51 hypospadias53 Occasional (29-5%)
52 bifid scrotum53 Occasional (29-5%)
53 sparse eyebrow53 Occasional (29-5%)
54 specific learning disability53 Very frequent (99-80%)
55 sparse scalp hair53 Occasional (29-5%)

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 Syndrome26 24

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

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

35
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:

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:

5
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

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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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet