GOSHS
MCID: GLD006
MIFTS: 48

Goldberg-Shprintzen Syndrome (GOSHS)

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

Aliases & Classifications for Goldberg-Shprintzen Syndrome

MalaCards integrated aliases for Goldberg-Shprintzen Syndrome:

Name: Goldberg-Shprintzen Syndrome 57 12 20 72 15
Goldberg-Shprintzen Megacolon Syndrome 57 12 20 58 72 36 29 13 6 44 39 70
Goshs 57 20 58 72
Megacolon-Microcephaly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
goldberg-shprintzen megacolon syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
goldberg-shprintzen syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


Summaries for Goldberg-Shprintzen Syndrome

GARD : 20 Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability. Most people with GOSHS also are born with H irschsprung disease, a condition in which the colon is missing nerve cells, leading to intestinal blockage. Some patients with this condition have a defect in the iris of the eye ( coloboma ), brain and other central nervous system abnormalities, an opening in the roof of the mouth ( cleft palate ) and short stature. This condition is caused by changes ( mutations ) in the KIAA1279 (also known as K1F1BP ) gene, and appears to be inherited in an autosomal recessive pattern. GOSHS is diagnosed based on the signs and symptoms and through genetic testing. Treatment is based on the symptoms and may include surgery. This condition has been described in only about 15 individuals to date, and the long-term outlook for people with GOSHS is unclear.

MalaCards based summary : Goldberg-Shprintzen Syndrome, also known as goldberg-shprintzen megacolon syndrome, is related to mowat-wilson syndrome and hirschsprung disease 1. An important gene associated with Goldberg-Shprintzen Syndrome is KIFBP (Kinesin Family Binding Protein), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. The drugs Adenosine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include eye, colon and brain, and related phenotypes are intellectual disability and microcephaly

Disease Ontology : 12 A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.

OMIM® : 57 Goldberg-Shprintzen syndrome (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome characterized by impaired intellectual development, 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). (609460) (Updated 05-Apr-2021)

KEGG : 36 Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical features of this syndrome include polymicrogyria, mild mental retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung disease. The precise function of KBP is largely unclear, but it is required for cell differentiation and neurite development.

UniProtKB/Swiss-Prot : 72 Goldberg-Shprintzen syndrome: A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease.

Wikipedia : 73 Goldberg-Shprintzen is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding... more...

Related Diseases for Goldberg-Shprintzen Syndrome

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 mowat-wilson syndrome 32.0 PHOX2B KIFBP EDNRB
2 hirschsprung disease 1 30.0 RET PHOX2B KIFBP GDNF EDNRB EDN3
3 megacolon 29.5 RET PHOX2B KIFBP GDNF EDNRB EDN3
4 velocardiofacial syndrome 10.7
5 microcephaly 10.5
6 alacrima, achalasia, and mental retardation syndrome 10.4
7 waardenburg syndrome, type 2c 10.3 EDNRB EDN3
8 cochlear disease 10.3 EDNRB EDN3
9 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
10 polymicrogyria 10.3
11 waardenburg syndrome type 4 10.3 EDNRB EDN3
12 waardenburg syndrome, type 4c 10.3 EDNRB EDN3
13 medullary sponge kidney 10.3 RET GDNF
14 hypoganglionosis 10.2 RET GDNF
15 multiple mucosal neuroma 10.2 RET GDNF
16 waardenburg syndrome, type 4b 10.2 EDNRB EDN3
17 waardenburg syndrome, type 3 10.2 EDNRB EDN3
18 tietz albinism-deafness syndrome 10.2 EDNRB EDN3
19 esophagus leiomyoma 10.2 RET GDNF
20 waardenburg syndrome, type 2e 10.2 EDNRB EDN3
21 waardenburg syndrome, type 1 10.2 EDNRB EDN3
22 multiple endocrine neoplasia, type iib 10.2 RET GDNF
23 waardenburg syndrome, type 2a 10.1 EDNRB BLOC1S1
24 waardenburg syndrome, type 4a 10.1 RET EDNRB EDN3
25 cleft palate, isolated 10.1
26 coloboma of macula 10.1
27 shprintzen-goldberg craniosynostosis syndrome 10.1
28 autosomal recessive disease 10.1
29 ptosis 10.1
30 cerebellar hypoplasia 10.1
31 peripheral nervous system disease 10.1
32 axonal neuropathy 10.1
33 neuroblastoma 10.1
34 neuropathy 10.1
35 coloboma of iris 10.1
36 pachygyria 10.1
37 hypotonia 10.1
38 intestinal pseudo-obstruction 10.1 RET EDNRB EDN3
39 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 EDNRB EDN3
40 achalasia 10.1 RET GDNF EDN3
41 spastic ataxia 2 10.1 KIF1C KIF1A
42 hereditary spastic paraplegia 30 10.1 KIF1C KIF1A
43 thyroid gland medullary carcinoma 10.0 RET GDNF
44 intestinal obstruction 10.0 RET GDNF EDNRB EDN3
45 constipation 10.0 RET GDNF EDNRB EDN3
46 autonomic nervous system benign neoplasm 9.9 RET PHOX2B
47 peripheral nervous system benign neoplasm 9.9 RET PHOX2B
48 peho syndrome 9.9 KIF1C KIF1A
49 renal hypoplasia 9.9 RET GDNF
50 miller-dieker lissencephaly syndrome 9.9 TUBB2B TUBA8 KIFBP

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



Diseases related to Goldberg-Shprintzen Syndrome

Symptoms & Phenotypes for Goldberg-Shprintzen Syndrome

Human phenotypes related to Goldberg-Shprintzen Syndrome:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
5 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
6 aganglionic megacolon 58 31 hallmark (90%) Very frequent (99-80%) HP:0002251
7 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
8 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
9 hypotonia 31 frequent (33%) HP:0001252
10 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
11 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
12 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
13 bifid scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000048
14 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
15 sparse scalp hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002209
16 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
17 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
18 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
19 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
20 sloping forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000340
21 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
22 seizure 31 occasional (7.5%) HP:0001250
23 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535
24 seizures 58 Occasional (29-5%)
25 short neck 31 HP:0000470
26 muscular hypotonia 58 Frequent (79-30%)
27 global developmental delay 31 HP:0001263
28 thick vermilion border 31 HP:0012471
29 thick eyebrow 31 HP:0000574
30 everted lower lip vermilion 31 HP:0000232
31 wide intermamillary distance 31 HP:0006610
32 low-set ears 31 HP:0000369
33 hypoplasia of the maxilla 31 HP:0000327
34 downslanted palpebral fissures 31 HP:0000494
35 highly arched eyebrow 31 HP:0002553
36 prominent nasal bridge 31 HP:0000426
37 short philtrum 31 HP:0000322
38 bulbous nose 31 HP:0000414
39 telecanthus 31 HP:0000506
40 megalocornea 31 HP:0000485
41 small hand 31 HP:0200055
42 blue sclerae 31 HP:0000592
43 polymicrogyria 31 HP:0002126
44 synophrys 31 HP:0000664
45 tapered finger 31 HP:0001182
46 corneal ulceration 31 HP:0012804
47 corneal erosion 31 HP:0200020
48 sparse hair 31 HP:0008070
49 sparse eyebrow 58 Occasional (29-5%)
50 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
telecanthus
megalocornea
blue sclerae
synophrys
more
Head And Neck Head:
microcephaly

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

Neurologic Central Nervous System:
polymicrogyria
pachygyria
mental retardation
delayed psychomotor development
thin corpus callosum
more
Skeletal Hands:
clinodactyly
small hands
tapered fingers

Chest Breasts:
widely spaced nipples

Abdomen Gastrointestinal:
hirschsprung disease (in most patients)

Head And Neck Neck:
short neck

Head And Neck Ears:
low-set ears
thick earlobes

Head And Neck Face:
short philtrum
maxillary hypoplasia
thick philtrum

Skin Nails Hair Hair:
sparse hair

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
everted lower lip
full lips

Clinical features from OMIM®:

609460 (Updated 05-Apr-2021)

Drugs & Therapeutics for Goldberg-Shprintzen Syndrome

Drugs for Goldberg-Shprintzen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
2
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
3 Immunosuppressive Agents Phase 1, Phase 2
4 Immunologic Factors Phase 1, Phase 2
5 Alkylating Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/II, Historical Controlled, Open-label, Non-randomised, Single-centre Trial to Assess the Safety and Efficacy of EF1αS-ADA Lentiviral Vector Mediated Gene Modification of Autologous CD34+ Cells From ADA-deficient Individuals Completed NCT01380990 Phase 1, Phase 2 Busulfan;Peg-Ada

Search NIH Clinical Center for Goldberg-Shprintzen Syndrome

Cochrane evidence based reviews: goldberg-shprintzen megacolon syndrome

Genetic Tests for Goldberg-Shprintzen Syndrome

Genetic tests related to Goldberg-Shprintzen Syndrome:

# Genetic test Affiliating Genes
1 Goldberg-Shprintzen Megacolon Syndrome 29 KIFBP

Anatomical Context for Goldberg-Shprintzen Syndrome

MalaCards organs/tissues related to Goldberg-Shprintzen Syndrome:

40
Eye, Colon, Brain

Publications for Goldberg-Shprintzen Syndrome

Articles related to Goldberg-Shprintzen Syndrome:

(show all 26)
# Title Authors PMID Year
1
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. 20 6 61
28277559 2017
2
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. 61 57
23427148 2013
3
Two brothers with Goldberg-Shprintzen syndrome. 57 61
16760737 2006
4
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 61 57
15883926 2005
5
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. 61 57
12687674 2003
6
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). 57 61
10874640 1999
7
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. 57 61
1785632 1991
8
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. 61 20
25846562 2015
9
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. 57
24072599 2013
10
The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation. 57
2240026 1990
11
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. 57
3172144 1988
12
Hirschsprung megacolon and cleft palate in two sibs. 57
7338549 1981
13
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. 61
32939943 2020
14
Multiple Functions of KBP in Neural Development Underlie Brain Anomalies in Goldberg-Shprintzen Syndrome. 61
31736709 2019
15
Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death. 61
29192291 2017
16
Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity. 61
26948876 2016
17
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
18
Mutations in SCG10 are not involved in Hirschsprung disease. 61
21187955 2010
19
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. 61
20621975 2010
20
KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome. 61
18192286 2008
21
Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. 61
12878302 2003
22
[Goldberg-Shprintzen syndrome]. 61
11462673 2001
23
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. 61
9719364 1998
24
Goldberg-Shprintzen syndrome: report of a new family and review of the literature. 61
9571278 1998
25
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) 61
9409878 1997
26
Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome. 61
7605558 1993

Variations for Goldberg-Shprintzen Syndrome

ClinVar genetic disease variations for Goldberg-Shprintzen Syndrome:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIFBP NM_015634.4(KIFBP):c.976C>T (p.Gln326Ter) SNV Pathogenic 437448 rs1293340864 GRCh37: 10:70770757-70770757
GRCh38: 10:69011001-69011001
2 KIFBP NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter) SNV Likely pathogenic 974776 GRCh37: 10:70748757-70748757
GRCh38: 10:68989001-68989001
3 KIFBP NM_015634.4(KIFBP):c.78A>G (p.Lys26=) SNV Conflicting interpretations of pathogenicity 158699 rs144067344 GRCh37: 10:70748666-70748666
GRCh38: 10:68988910-68988910
4 KIFBP NM_015634.4(KIFBP):c.1516dup (p.Ile506fs) Duplication Uncertain significance 503623 rs781469363 GRCh37: 10:70775814-70775815
GRCh38: 10:69016058-69016059
5 KIFBP NM_015634.4(KIFBP):c.925G>A (p.Glu309Lys) SNV Uncertain significance 158700 rs76319365 GRCh37: 10:70770706-70770706
GRCh38: 10:69010950-69010950
6 KIFBP NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) Duplication Uncertain significance 300283 rs769950460 GRCh37: 10:70775383-70775384
GRCh38: 10:69015627-69015628
7 KIFBP NM_015634.4(KIFBP):c.1279A>G (p.Ser427Gly) SNV Uncertain significance 691484 rs370902866 GRCh37: 10:70775585-70775585
GRCh38: 10:69015829-69015829
8 KIFBP NM_015634.4(KIFBP):c.565C>T (p.Pro189Ser) SNV Uncertain significance 691485 rs1589296239 GRCh37: 10:70764841-70764841
GRCh38: 10:69005085-69005085
9 KIFBP NM_015634.4(KIFBP):c.1692_1693AG[1] (p.Glu565fs) Microsatellite Uncertain significance 691486 rs1216570912 GRCh37: 10:70775998-70775999
GRCh38: 10:69016242-69016243
10 KIFBP NM_015634.3:c.905_1020del Deletion Uncertain significance 691502 GRCh37:
GRCh38:
11 KIFBP NM_015634.4(KIFBP):c.48G>T (p.Ala16=) SNV Uncertain significance 747088 rs201777829 GRCh37: 10:70748636-70748636
GRCh38: 10:68988880-68988880
12 KIFBP NM_015634.4(KIFBP):c.60G>C (p.Ser20=) SNV Uncertain significance 877690 GRCh37: 10:70748648-70748648
GRCh38: 10:68988892-68988892
13 KIFBP NM_015634.4(KIFBP):c.66G>A (p.Val22=) SNV Uncertain significance 877691 GRCh37: 10:70748654-70748654
GRCh38: 10:68988898-68988898
14 KIFBP NM_015634.4(KIFBP):c.1768G>A (p.Ala590Thr) SNV Uncertain significance 877722 GRCh37: 10:70776074-70776074
GRCh38: 10:69016318-69016318
15 KIFBP NM_015634.4(KIFBP):c.1848C>A (p.Thr616=) SNV Uncertain significance 877723 GRCh37: 10:70776154-70776154
GRCh38: 10:69016398-69016398
16 KIFBP NM_015634.4(KIFBP):c.*20G>A SNV Uncertain significance 877724 GRCh37: 10:70776192-70776192
GRCh38: 10:69016436-69016436
17 KIFBP NM_015634.4(KIFBP):c.*39T>A SNV Uncertain significance 877725 GRCh37: 10:70776211-70776211
GRCh38: 10:69016455-69016455
18 KIFBP NM_015634.4(KIFBP):c.*133G>C SNV Uncertain significance 877726 GRCh37: 10:70776305-70776305
GRCh38: 10:69016549-69016549
19 KIFBP NM_015634.4(KIFBP):c.*233C>G SNV Uncertain significance 877727 GRCh37: 10:70776405-70776405
GRCh38: 10:69016649-69016649
20 KIFBP NM_015634.4(KIFBP):c.*271T>C SNV Uncertain significance 877728 GRCh37: 10:70776443-70776443
GRCh38: 10:69016687-69016687
21 KIFBP NM_015634.4(KIFBP):c.*306A>G SNV Uncertain significance 877729 GRCh37: 10:70776478-70776478
GRCh38: 10:69016722-69016722
22 KIFBP NM_015634.4(KIFBP):c.116C>G (p.Ala39Gly) SNV Uncertain significance 878713 GRCh37: 10:70748704-70748704
GRCh38: 10:68988948-68988948
23 KIFBP NM_015634.4(KIFBP):c.121G>C (p.Ala41Pro) SNV Uncertain significance 878714 GRCh37: 10:70748709-70748709
GRCh38: 10:68988953-68988953
24 KIFBP NM_015634.4(KIFBP):c.*451T>C SNV Uncertain significance 878763 GRCh37: 10:70776623-70776623
GRCh38: 10:69016867-69016867
25 KIFBP NM_015634.4(KIFBP):c.*486G>A SNV Uncertain significance 878764 GRCh37: 10:70776658-70776658
GRCh38: 10:69016902-69016902
26 KIFBP NM_015634.4(KIFBP):c.*523C>T SNV Uncertain significance 878765 GRCh37: 10:70776695-70776695
GRCh38: 10:69016939-69016939
27 KIFBP NM_015634.4(KIFBP):c.718G>A (p.Glu240Lys) SNV Uncertain significance 879303 GRCh37: 10:70765600-70765600
GRCh38: 10:69005844-69005844
28 KIFBP NM_015634.4(KIFBP):c.781A>G (p.Ile261Val) SNV Uncertain significance 435591 rs749110699 GRCh37: 10:70765663-70765663
GRCh38: 10:69005907-69005907
29 KIFBP NM_015634.4(KIFBP):c.858C>T (p.Ile286=) SNV Uncertain significance 879304 GRCh37: 10:70768665-70768665
GRCh38: 10:69008909-69008909
30 KIFBP NM_015634.4(KIFBP):c.875-10T>C SNV Uncertain significance 879305 GRCh37: 10:70770646-70770646
GRCh38: 10:69010890-69010890
31 KIFBP NM_015634.4(KIFBP):c.301C>T (p.Leu101Phe) SNV Uncertain significance 878716 GRCh37: 10:70748889-70748889
GRCh38: 10:68989133-68989133
32 KIFBP NM_015634.4(KIFBP):c.318C>T (p.Ile106=) SNV Uncertain significance 878717 GRCh37: 10:70748906-70748906
GRCh38: 10:68989150-68989150
33 KIFBP NM_015634.4(KIFBP):c.322A>G (p.Thr108Ala) SNV Uncertain significance 878718 GRCh37: 10:70748910-70748910
GRCh38: 10:68989154-68989154
34 KIFBP NM_015634.4(KIFBP):c.1325G>C (p.Arg442Thr) SNV Uncertain significance 880493 GRCh37: 10:70775631-70775631
GRCh38: 10:69015875-69015875
35 KIFBP NM_015634.4(KIFBP):c.1326A>G (p.Arg442=) SNV Uncertain significance 211258 rs143815412 GRCh37: 10:70775632-70775632
GRCh38: 10:69015876-69015876
36 KIFBP NM_015634.4(KIFBP):c.1373C>T (p.Thr458Ile) SNV Uncertain significance 880494 GRCh37: 10:70775679-70775679
GRCh38: 10:69015923-69015923
37 KIFBP NM_015634.4(KIFBP):c.1399C>T (p.Leu467=) SNV Uncertain significance 158693 rs142011043 GRCh37: 10:70775705-70775705
GRCh38: 10:69015949-69015949
38 KIFBP NM_015634.4(KIFBP):c.1615G>A (p.Val539Ile) SNV Uncertain significance 880495 GRCh37: 10:70775921-70775921
GRCh38: 10:69016165-69016165
39 KIFBP NM_015634.4(KIFBP):c.1666A>C (p.Lys556Gln) SNV Uncertain significance 880496 GRCh37: 10:70775972-70775972
GRCh38: 10:69016216-69016216
40 KIFBP NM_015634.4(KIFBP):c.963C>T (p.Leu321=) SNV Uncertain significance 879306 GRCh37: 10:70770744-70770744
GRCh38: 10:69010988-69010988
41 KIFBP NM_015634.4(KIFBP):c.990+11C>T SNV Likely benign 879307 GRCh37: 10:70770782-70770782
GRCh38: 10:69011026-69011026
42 KIFBP NM_015634.4(KIFBP):c.202G>C (p.Gly68Arg) SNV Likely benign 878715 GRCh37: 10:70748790-70748790
GRCh38: 10:68989034-68989034
43 KIFBP NM_015634.4(KIFBP):c.1761T>C (p.Pro587=) SNV Likely benign 158695 rs41279644 GRCh37: 10:70776067-70776067
GRCh38: 10:69016311-69016311
44 KIFBP NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) SNV Benign 158698 rs148768851 GRCh37: 10:70748656-70748656
GRCh38: 10:68988900-68988900
45 KIFBP NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser) SNV Benign 158696 rs2255607 GRCh37: 10:70748784-70748784
GRCh38: 10:68989028-68989028
46 KIFBP NM_015634.4(KIFBP):c.1653C>T (p.Ala551=) SNV Benign 158694 rs35893997 GRCh37: 10:70775959-70775959
GRCh38: 10:69016203-69016203
47 KIFBP NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) SNV Benign 158697 rs62625033 GRCh37: 10:70760271-70760271
GRCh38: 10:69000515-69000515
48 KIFBP NM_015634.4(KIFBP):c.1023G>A (p.Gln341=) SNV Benign 158692 rs16926021 GRCh37: 10:70775329-70775329
GRCh38: 10:69015573-69015573
49 KIFBP NM_015634.4(KIFBP):c.*415C>T SNV Benign 878761 GRCh37: 10:70776587-70776587
GRCh38: 10:69016831-69016831
50 KIFBP NM_015634.4(KIFBP):c.*422A>C SNV Benign 878762 GRCh37: 10:70776594-70776594
GRCh38: 10:69016838-69016838

Expression for Goldberg-Shprintzen Syndrome

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

Pathways for Goldberg-Shprintzen Syndrome

Pathways related to Goldberg-Shprintzen Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11 KIF1C KIF1A KIF18A

GO Terms for Goldberg-Shprintzen Syndrome

Cellular components related to Goldberg-Shprintzen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 TUBB2B TUBA8 KIFBP KIF1C KIF1A KIF18A
2 axon GO:0030424 9.56 STMN2 RET KIF1C KIF1A
3 microtubule cytoskeleton GO:0015630 9.54 TUBB2B TUBA8 KIF18A
4 axon cytoplasm GO:1904115 9.33 KIF1C KIF1A BLOC1S1
5 kinesin complex GO:0005871 9.13 KIF1C KIF1A KIF18A
6 microtubule GO:0005874 9.02 TUBB2B TUBA8 KIF1C KIF1A KIF18A

Biological processes related to Goldberg-Shprintzen Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 TUBB2B RET KIFBP GDNF EDNRB
2 neuron differentiation GO:0030182 9.74 RET PHOX2B EDN3
3 neuron projection development GO:0031175 9.71 STMN2 GDNF BLOC1S1
4 microtubule-based movement GO:0007018 9.61 KIF1C KIF1A KIF18A
5 anterograde axonal transport GO:0008089 9.58 KIF1A BLOC1S1
6 peripheral nervous system development GO:0007422 9.56 GDNF EDNRB
7 melanocyte differentiation GO:0030318 9.55 EDNRB EDN3
8 cytoskeleton-dependent intracellular transport GO:0030705 9.52 KIF1C KIF1A
9 response to pain GO:0048265 9.51 RET EDNRB
10 vasoconstriction GO:0042310 9.49 EDNRB EDN3
11 microtubule depolymerization GO:0007019 9.48 STMN2 KIF18A
12 sympathetic nervous system development GO:0048485 9.46 PHOX2B GDNF
13 retrograde neuronal dense core vesicle transport GO:1990049 9.37 KIF1C KIF1A
14 anterograde neuronal dense core vesicle transport GO:1990048 9.32 KIF1C KIF1A
15 vein smooth muscle contraction GO:0014826 9.26 EDNRB EDN3
16 neural crest cell migration GO:0001755 9.26 RET GDNF EDNRB EDN3
17 posterior midgut development GO:0007497 9.16 RET EDNRB
18 enteric nervous system development GO:0048484 8.92 RET PHOX2B GDNF EDNRB

Molecular functions related to Goldberg-Shprintzen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.13 KIF1C KIF1A KIF18A
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.8 KIF1C KIF1A KIF18A

Sources for Goldberg-Shprintzen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....