Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandHirschsprung Disease (D006627)
..Starting node
..expandGoldberg-Shprintzen megacolon syndrome (C537279)

       Child Nodes:



 Sister Nodes: 
..expandAganglionosis, total intestinal (C538058)
..expandAl Gazali Hirschsprung syndrome (C535615)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandGoldberg-Shprintzen megacolon syndrome (C537279)
..expandHirschsprung disease 1 (C538540)
..expandHirschsprung disease ganglioneuroblastoma (C538119)
..expandHirschsprung disease polydactyly heart disease (C538120)
..expandHirschsprung disease type 3 (C538121)
..expandHirschsprung disease type d brachydactyly (C538319)
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..expandHirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..expandLaurence Prosser Rocker syndrome (C537882)
..expandMowat-Wilson syndrome (C536990)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandSantos Mateus Leal syndrome (C537235)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWaardenburg Syndrome, Type 4b (C567680)
..expandWaardenburg Syndrome, Type 4c (C567679)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4751
Name:Goldberg-Shprintzen megacolon syndrome
Definition:
Alternative IDs:OMIM:609460
ParentIDs:MESH:D006627|MESH:D019465
TreeNumbers:C05.660.207/C537279 |C06.198.439/C537279 |C06.405.469.158.701.439/C537279 |C16.131.314.439/C537279 |C16.131.621.207/C537279
Synonyms:GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME |Goldberg-Shprintzen syndrome |GOSHS
Slim Mappings:Congenital abnormality|Digestive system disease|Musculoskeletal disease
Reference: MedGen: C537279
MeSH: C537279
OMIM: 609460;

Genes: KIF1BP;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0002251Aganglionic megacolon
4 HP:0000592Blue sclerae
5 HP:0000414Bulbous nose
6 HP:0030084Clinodactyly
7 HP:0200020Corneal erosion
8 HP:0012804Corneal ulceration
9 HP:0000494Downslanted palpebral fissures
10 HP:0000232Everted lower lip vermilion
11 HP:0001290Generalized hypotonia
12 HP:0001263Global developmental delay
13 HP:0002553Highly arched eyebrow
14 HP:0002365Hypoplasia of the brainstem
15 HP:0002079Hypoplasia of the corpus callosum
16 HP:0000327Hypoplasia of the maxilla
17 HP:0001249Intellectual disability
18 HP:0000369Low-set ears
19 HP:0000485Megalocornea
20 HP:0000252Microcephaly
21 HP:0001302Pachygyria
22 HP:0002126Polymicrogyria
23 HP:0000426Prominent nasal bridge
24 HP:0000508Ptosis
25 HP:0000470Short neck
26 HP:0000322Short philtrum
27 HP:0200055Small hand
28 HP:0008070Sparse hair
29 HP:0000664Synophrys
30 HP:0001182Tapered finger
31 HP:0000506Telecanthus
32 HP:0000574Thick eyebrow
33 HP:0012471Thick vermilion border
34 HP:0006610Wide intermamillary distance
35 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_015634.3(KIF1BP):c.78A>G (p.Lys26=)26128KIF1BPUncertain significance144067344RCV000146135; NMedGen:C1836123,OMIM:609460,ORPHA:66629107074866670748666NM_015634.3:c.78A>GNP_056449.1:p.Lys26=NC_000010.10:g.70748666A>G-C1836123 609460 Goldberg-Shprintzen megacolon syndrome
NM_015634.3(KIF1BP):c.925G>A (p.Glu309Lys)26128KIF1BPUncertain significance76319365RCV000146136; NMedGen:C1836123,OMIM:609460,ORPHA:66629107077070670770706NM_015634.3:c.925G>ANP_056449.1:p.Glu309LysNC_000010.10:g.70770706G>A-C1836123 609460 Goldberg-Shprintzen megacolon syndrome
NM_015634.3(KIF1BP):c.1399C>T (p.Leu467=)26128KIF1BPUncertain significance142011043RCV000146129; NMedGen:C1836123,OMIM:609460,ORPHA:66629107077570570775705NM_015634.3:c.1399C>TNP_056449.1:p.Leu467=NC_000010.10:g.70775705C>T-C1836123 609460 Goldberg-Shprintzen megacolon syndrome