MCID: HRS003
MIFTS: 18

Hirschsprung Disease Ganglioneuroblastoma

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

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

MalaCards integrated aliases for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 20 6 70
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 58
Neuroblastoma with Hirschsprung Disease 20

Classifications:

Orphanet: 58  
Rare eye diseases
Rare gastroenterological diseases


External Ids:

MESH via Orphanet 45 C538119
ICD10 via Orphanet 33 Q43.1
UMLS via Orphanet 71 C2751683
Orphanet 58 ORPHA2151
UMLS 70 C2751683

Summaries for Hirschsprung Disease Ganglioneuroblastoma

MalaCards based summary : Hirschsprung Disease Ganglioneuroblastoma, also known as hirschsprung disease-ganglioneuroblastoma syndrome, is related to neuroblastoma 2. An important gene associated with Hirschsprung Disease Ganglioneuroblastoma is PHOX2B (Paired Like Homeobox 2B). Affiliated tissues include eye, and related phenotypes are hyperhidrosis and prolonged qt interval

Related Diseases for Hirschsprung Disease Ganglioneuroblastoma

Diseases related to Hirschsprung Disease Ganglioneuroblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuroblastoma 2 11.6

Symptoms & Phenotypes for Hirschsprung Disease Ganglioneuroblastoma

Human phenotypes related to Hirschsprung Disease Ganglioneuroblastoma:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 prolonged qt interval 58 31 hallmark (90%) Very frequent (99-80%) HP:0001657
3 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
4 aganglionic megacolon 58 31 hallmark (90%) Very frequent (99-80%) HP:0002251
5 abnormal pupil morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000615
6 ganglioneuroblastoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0006747
7 seizure 31 hallmark (90%) HP:0001250
8 seizures 58 Very frequent (99-80%)
9 neoplasm of the nervous system 58 Very frequent (99-80%)

Drugs & Therapeutics for Hirschsprung Disease Ganglioneuroblastoma

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease Ganglioneuroblastoma

Genetic Tests for Hirschsprung Disease Ganglioneuroblastoma

Anatomical Context for Hirschsprung Disease Ganglioneuroblastoma

MalaCards organs/tissues related to Hirschsprung Disease Ganglioneuroblastoma:

40
Eye

Publications for Hirschsprung Disease Ganglioneuroblastoma

Articles related to Hirschsprung Disease Ganglioneuroblastoma:

# Title Authors PMID Year
1
Germline PHOX2B mutation in hereditary neuroblastoma. 6
15338462 2004
2
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. 6
15024693 2004
3
Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. 6
12438263 2002
4
Segregation at three loci explains familial and population risk in Hirschsprung disease. 6
11953745 2002

Variations for Hirschsprung Disease Ganglioneuroblastoma

ClinVar genetic disease variations for Hirschsprung Disease Ganglioneuroblastoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHOX2B NM_003924.3(PHOX2B):c.421C>G (p.Arg141Gly) SNV Pathogenic 6012 rs28939716 GRCh37: 4:41749374-41749374
GRCh38: 4:41747357-41747357
2 PHOX2B PHOX2B, 1-BP DEL, 676G Deletion Pathogenic 6013 GRCh37:
GRCh38:

Expression for Hirschsprung Disease Ganglioneuroblastoma

Search GEO for disease gene expression data for Hirschsprung Disease Ganglioneuroblastoma.

Pathways for Hirschsprung Disease Ganglioneuroblastoma

GO Terms for Hirschsprung Disease Ganglioneuroblastoma

Sources for Hirschsprung Disease Ganglioneuroblastoma

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....