GOSHS
MCID: GLD002
MIFTS: 27

Goldberg-Shprintzen Megacolon Syndrome (GOSHS) malady

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

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

About this section
Sources:
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

Characteristics:

Orphanet epidemiological data:

54
goldberg-shprintzen megacolon syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
goldberg-shprintzen megacolon syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



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 Array, Array and Array. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIF1BP (KIF1 Binding Protein). Affiliated tissues include eye and brain.

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

UniProtKB/Swiss-Prot:70 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:

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

Symptoms & Phenotypes for Goldberg-Shprintzen Megacolon Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

609460

Clinical features from OMIM:

609460

Human phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

 54 64 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias64 54 Occasional (29-5%) HP:0000047
2 bifid scrotum64 54 Occasional (29-5%) HP:0000048
3 cleft palate64 54 Very frequent (99-80%) HP:0000175
4 microcephaly64 54 Very frequent (99-80%) HP:0000252
5 pointed chin64 54 Occasional (29-5%) HP:0000307
6 hypertelorism64 54 Occasional (29-5%) HP:0000316
7 sloping forehead64 54 Occasional (29-5%) HP:0000340
8 macrotia64 54 Occasional (29-5%) HP:0000400
9 wide nasal bridge64 54 Occasional (29-5%) HP:0000431
10 ptosis64 54 Frequent (79-30%) HP:0000508
11 sparse eyebrow54 Occasional (29-5%)
12 iris coloboma64 54 Frequent (79-30%) HP:0000612
13 intellectual disability64 54 Very frequent (99-80%) HP:0001249
14 seizures64 54 Occasional (29-5%) HP:0001250
15 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
16 pachygyria64 54 Occasional (29-5%) HP:0001302
17 specific learning disability64 54 Very frequent (99-80%) HP:0001328
18 hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0002079
19 ventriculomegaly64 54 Occasional (29-5%) HP:0002119
20 sparse scalp hair64 54 Occasional (29-5%) HP:0002209
21 aganglionic megacolon64 54 Very frequent (99-80%) HP:0002251
22 short stature64 54 Very frequent (99-80%) HP:0004322
23 finger syndactyly64 54 Occasional (29-5%) HP:0006101
24 everted lower lip vermilion64 HP:0000232
25 short philtrum64 HP:0000322
26 hypoplasia of the maxilla64 HP:0000327
27 low-set ears64 HP:0000369
28 bulbous nose64 HP:0000414
29 prominent nasal bridge64 HP:0000426
30 short neck64 HP:0000470
31 megalocornea64 HP:0000485
32 downslanted palpebral fissures64 HP:0000494
33 telecanthus64 HP:0000506
34 thick eyebrow64 HP:0000574
35 blue sclerae64 HP:0000592
36 synophrys64 HP:0000664
37 tapered finger64 HP:0001182
38 global developmental delay64 HP:0001263
39 polymicrogyria64 HP:0002126
40 hypoplasia of the brainstem64 HP:0002365
41 highly arched eyebrow64 HP:0002553
42 wide intermamillary distance64 HP:0006610
43 sparse hair64 HP:0008070
44 thick vermilion border64 HP:0012471
45 corneal ulceration64 HP:0012804
46 clinodactyly64 HP:0030084
47 corneal erosion64 HP:0200020
48 small hand64 HP:0200055
49 sparse and thin eyebrow64 HP:0000535

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 KIF1BP

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

About this section

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

36
Eye, Brain

Publications for Goldberg-Shprintzen Megacolon Syndrome

About this section

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

About this section

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

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
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet