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

Aliases & Descriptions for Goldberg-Shprintzen Megacolon Syndrome:

Name: Goldberg-Shprintzen Megacolon Syndrome 54 50 24 56 66 29 13 69
Goshs 50 24 56 66
Goldberg-Shprintzen Syndrome 50 66
Megacolon-Microcephaly Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
goldberg-shprintzen megacolon syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
goldberg-shprintzen megacolon syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 609460
Orphanet 56 ORPHA66629
MESH via Orphanet 43 C537279
UMLS via Orphanet 70 C1836123
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1836123

Summaries for Goldberg-Shprintzen Megacolon Syndrome

OMIM : 54 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 seizures, hypertelorism and finger syndactyly. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIF1BP (KIF1 Binding Protein). Affiliated tissues include eye and brain.

NIH Rare Diseases : 50 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 shprintzen-goldberg syndrome 11.5
2 megacolon 10.1
3 axonal neuropathy 10.1
4 neuropathy 10.1

Symptoms & Phenotypes for Goldberg-Shprintzen Megacolon Syndrome

Symptoms by clinical synopsis from OMIM:

609460

Clinical features from OMIM:

609460

Human phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 hypertelorism 56 32 Occasional (29-5%) HP:0000316
3 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
4 ptosis 56 32 Frequent (79-30%) HP:0000508
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
7 macrotia 56 32 Occasional (29-5%) HP:0000400
8 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
9 microcephaly 56 32 Very frequent (99-80%) HP:0000252
10 short stature 56 32 Very frequent (99-80%) HP:0004322
11 cleft palate 56 32 Very frequent (99-80%) HP:0000175
12 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
13 aganglionic megacolon 56 32 Very frequent (99-80%) HP:0002251
14 hypospadias 56 32 Occasional (29-5%) HP:0000047
15 specific learning disability 56 32 Very frequent (99-80%) HP:0001328
16 sparse scalp hair 56 32 Occasional (29-5%) HP:0002209
17 pointed chin 56 32 Occasional (29-5%) HP:0000307
18 iris coloboma 56 32 Frequent (79-30%) HP:0000612
19 bifid scrotum 56 32 Occasional (29-5%) HP:0000048
20 pachygyria 56 32 Occasional (29-5%) HP:0001302
21 sloping forehead 56 32 Occasional (29-5%) HP:0000340
22 hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0002079
23 low-set ears 32 HP:0000369
24 short neck 32 HP:0000470
25 clinodactyly 32 HP:0030084
26 global developmental delay 32 HP:0001263
27 thick vermilion border 32 HP:0012471
28 thick eyebrow 32 HP:0000574
29 megalocornea 32 HP:0000485
30 corneal erosion 32 HP:0200020
31 everted lower lip vermilion 32 HP:0000232
32 wide intermamillary distance 32 HP:0006610
33 prominent nasal bridge 32 HP:0000426
34 telecanthus 32 HP:0000506
35 short philtrum 32 HP:0000322
36 small hand 32 HP:0200055
37 hypoplasia of the maxilla 32 HP:0000327
38 downslanted palpebral fissures 32 HP:0000494
39 bulbous nose 32 HP:0000414
40 highly arched eyebrow 32 HP:0002553
41 synophrys 32 HP:0000664
42 blue sclerae 32 HP:0000592
43 polymicrogyria 32 HP:0002126
44 tapered finger 32 HP:0001182
45 sparse hair 32 HP:0008070
46 sparse eyebrow 56 Occasional (29-5%)
47 hypoplasia of the brainstem 32 HP:0002365
48 sparse and thin eyebrow 32 HP:0000535
49 corneal ulceration 32 HP:0012804

Drugs & Therapeutics for Goldberg-Shprintzen Megacolon Syndrome

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

Genetic Tests for Goldberg-Shprintzen Megacolon Syndrome

Genetic tests related to Goldberg-Shprintzen Megacolon Syndrome:

id Genetic test Affiliating Genes
1 Goldberg-Shprintzen Megacolon Syndrome 29 24 KIF1BP

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

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

39
Eye, Brain

Publications for Goldberg-Shprintzen Megacolon Syndrome

Articles related to Goldberg-Shprintzen Megacolon Syndrome:

id Title Authors Year
1
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. ( 25846562 )
2015

Variations for Goldberg-Shprintzen Megacolon Syndrome

ClinVar genetic disease variations for Goldberg-Shprintzen Megacolon Syndrome:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 KIF1BP NM_015634.3(KIF1BP): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs121434514 GRCh37 Chromosome 10, 70748856: 70748856
2 KIF1BP NM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter) single nucleotide variant Pathogenic rs121434515 GRCh37 Chromosome 10, 70748838: 70748838
3 SKI NM_003036.3(SKI): c.347G> A (p.Gly116Glu) single nucleotide variant Pathogenic rs387907303 GRCh37 Chromosome 1, 2160552: 2160552
4 SKI NM_003036.3(SKI): c.94C> G (p.Leu32Val) single nucleotide variant Pathogenic rs387907304 GRCh37 Chromosome 1, 2160299: 2160299
5 SKI NM_003036.3(SKI): c.101G> A (p.Gly34Asp) single nucleotide variant Pathogenic rs387907305 GRCh37 Chromosome 1, 2160306: 2160306
6 SKI NM_003036.3(SKI): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs387907306 GRCh37 Chromosome 1, 2160305: 2160305
7 SKI NM_003036.3(SKI): c.100G> T (p.Gly34Cys) single nucleotide variant Pathogenic rs387907306 GRCh37 Chromosome 1, 2160305: 2160305
8 SKI NM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del) deletion Pathogenic rs398122889 GRCh37 Chromosome 1, 2160488: 2160496
9 SKI NM_003036.3(SKI): c.101G> T (p.Gly34Val) single nucleotide variant Pathogenic rs387907305 GRCh37 Chromosome 1, 2160306: 2160306
10 SKI NM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del) deletion Pathogenic rs398122914 GRCh37 Chromosome 1, 2160485: 2160496
11 SKI NM_003036.3(SKI): c.104C> A (p.Pro35Gln) single nucleotide variant Pathogenic rs397514589 GRCh37 Chromosome 1, 2160309: 2160309
12 SKI NM_003036.3(SKI): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs397514590 GRCh37 Chromosome 1, 2160308: 2160308
13 KIF1BP NM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter) single nucleotide variant Pathogenic rs730882150 GRCh37 Chromosome 10, 70764875: 70764875
14 KIF1BP NM_015634.3(KIF1BP): c.604_605delAG (p.Arg202Ilefs) deletion Pathogenic rs730882151 GRCh37 Chromosome 10, 70764880: 70764881
15 KIF1BP NC_000010.11 deletion Pathogenic GRCh38 Chromosome 10, 68989259: 69005731
16 SKI NM_003036.3(SKI): c.62T> G (p.Leu21Arg) single nucleotide variant Pathogenic rs869312902 GRCh37 Chromosome 1, 2160267: 2160267
17 SKI NM_003036.3(SKI): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs869312901 GRCh37 Chromosome 1, 2160554: 2160554

Expression for Goldberg-Shprintzen Megacolon Syndrome

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

Pathways for Goldberg-Shprintzen Megacolon Syndrome

GO Terms for Goldberg-Shprintzen Megacolon Syndrome

Sources for Goldberg-Shprintzen Megacolon Syndrome

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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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