MCID: GLD002
MIFTS: 32

Goldberg-Shprintzen Megacolon Syndrome

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

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

MalaCards integrated aliases for Goldberg-Shprintzen Megacolon Syndrome:

Name: Goldberg-Shprintzen Megacolon Syndrome 54 50 24 56 71 29 13 69
Goshs 50 24 56 71
Goldberg-Shprintzen Syndrome 50 71
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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
prenatal onset
additional developmental abnormalities may be seen in some patients


HPO:

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


Classifications:



Summaries for Goldberg-Shprintzen Megacolon Syndrome

OMIM : 54
Goldberg-Shprintzen syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Goldberg-Shprintzen syndrome has some resemblance to Mowat-Wilson syndrome (MOWS; 235730) but is genetically distinct (summary by Drevillon et al., 2013). Yomo et al. (1991) referred to this disorder as Goldberg-Shprintzen syndrome, which should not be confused with Shprintzen-Goldberg craniosynostosis syndrome (182212) or 2 other Shprintzen syndromes (192430, 182210). (609460)

MalaCards based summary : Goldberg-Shprintzen Megacolon Syndrome, also known as goshs, is related to shprintzen-goldberg syndrome and mowat-wilson syndrome, and has symptoms including short stature, sparse scalp hair and ventriculomegaly. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIF1BP (KIF1 Binding Protein). Affiliated tissues include eye and brain, and related phenotypes are craniofacial and neoplasm

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 recessivetrait and was found to be caused by mutations in the kiaa1279 gene. last updated: 3/6/2013

UniProtKB/Swiss-Prot : 71 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 31.5 KIF1BP SKI
2 mowat-wilson syndrome 11.3
3 megacolon 10.1
4 axonal neuropathy 10.1
5 neuropathy 10.1
6 hyperinsulinism-hyperammonemia syndrome 9.2 KIF1BP SKI

Graphical network of the top 20 diseases related to Goldberg-Shprintzen Megacolon Syndrome:



Diseases related to Goldberg-Shprintzen Megacolon Syndrome

Symptoms & Phenotypes for Goldberg-Shprintzen Megacolon Syndrome

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia

Head And Neck- Eyes:
downslanting palpebral fissures
ptosis
megalocornea
telecanthus
synophrys
more
Head And Neck- Ears:
low-set ears
thick earlobes

Head And Neck- Mouth:
everted lower lip
full lips

Head And Neck- Face:
maxillary hypoplasia
short philtrum
thick philtrum

Head And Neck- Neck:
short neck

Abdomen- Gastroin testinal:
hirschsprung disease (in most patients)

Neurologic- Central Nervous System:
delayed psychomotor development
mental retardation
thin corpus callosum
brainstem hypoplasia
pachygyria
more
Head And Neck- Head:
microcephaly

Skin Nails & Hair- Hair:
sparse hair

Chest- Breasts:
widely spaced nipples

Skeletal- Hands:
small hands
clinodactyly
tapered fingers

Head And Neck- Nose:
broad nasal bridge
bulbous nasal tip
prominent nasal bridge


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 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 sparse scalp hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0002209
3 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
6 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
7 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
8 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
9 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
10 pachygyria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001302
11 sloping forehead 56 32 occasional (7.5%) Occasional (29-5%) HP:0000340
12 iris coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000612
13 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
14 hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002079
15 wide nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000431
16 bifid scrotum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000048
17 pointed chin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000307
18 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
19 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
20 aganglionic megacolon 56 32 hallmark (90%) Very frequent (99-80%) HP:0002251
21 macrotia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000400
22 specific learning disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001328
23 bulbous nose 32 HP:0000414
24 low-set ears 32 HP:0000369
25 sparse hair 32 HP:0008070
26 megalocornea 32 HP:0000485
27 polymicrogyria 32 HP:0002126
28 global developmental delay 32 HP:0001263
29 short neck 32 HP:0000470
30 short philtrum 32 HP:0000322
31 telecanthus 32 HP:0000506
32 clinodactyly 32 HP:0030084
33 synophrys 32 HP:0000664
34 corneal ulceration 32 HP:0012804
35 downslanted palpebral fissures 32 HP:0000494
36 blue sclerae 32 HP:0000592
37 prominent nasal bridge 32 HP:0000426
38 hypoplasia of the brainstem 32 HP:0002365
39 small hand 32 HP:0200055
40 everted lower lip vermilion 32 HP:0000232
41 thick vermilion border 32 HP:0012471
42 thick eyebrow 32 HP:0000574
43 corneal erosion 32 HP:0200020
44 wide intermamillary distance 32 HP:0006610
45 hypoplasia of the maxilla 32 HP:0000327
46 highly arched eyebrow 32 HP:0002553
47 tapered finger 32 HP:0001182
48 sparse eyebrow 56 Occasional (29-5%)
49 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535

MGI Mouse Phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.65 SKI
2 neoplasm MP:0002006 8.32 SKI

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 18)
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/Likely pathogenic rs869312901 GRCh37 Chromosome 1, 2160554: 2160554
18 KIF1BP NM_015634.3(KIF1BP): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 70770757: 70770757

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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70 UMLS via Orphanet
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