MCID: HRS003
MIFTS: 17

Hirschsprung Disease Ganglioneuroblastoma

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

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

MalaCards integrated aliases for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 49 28 69
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 55
Neuroblastoma with Hirschsprung Disease 49

Classifications:



External Ids:

Orphanet 55 ORPHA2151
MESH via Orphanet 42 C538119
UMLS via Orphanet 70 C2751683
ICD10 via Orphanet 33 Q43.1
UMLS 69 C2751683

Summaries for Hirschsprung Disease Ganglioneuroblastoma

MalaCards based summary : Hirschsprung Disease Ganglioneuroblastoma, also known as hirschsprung disease-ganglioneuroblastoma syndrome, is related to neuroblastoma 2, and has symptoms including hyperhidrosis, seizures and prolonged qt interval. An important gene associated with Hirschsprung Disease Ganglioneuroblastoma is PHOX2B (Paired Like Homeobox 2b).

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 11.3

Symptoms & Phenotypes for Hirschsprung Disease Ganglioneuroblastoma

Human phenotypes related to Hirschsprung Disease Ganglioneuroblastoma:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 prolonged qt interval 55 31 hallmark (90%) Very frequent (99-80%) HP:0001657
4 aganglionic megacolon 55 31 hallmark (90%) Very frequent (99-80%) HP:0002251
5 ganglioneuroblastoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0006747
6 arrhythmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0011675
7 abnormality of the pupil 55 Very frequent (99-80%)
8 neoplasm of the nervous system 55 Very frequent (99-80%)
9 abnormal pupil morphology 31 hallmark (90%) HP:0000615

Drugs & Therapeutics for Hirschsprung Disease Ganglioneuroblastoma

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease Ganglioneuroblastoma

Genetic Tests for Hirschsprung Disease Ganglioneuroblastoma

Genetic tests related to Hirschsprung Disease Ganglioneuroblastoma:

# Genetic test Affiliating Genes
1 Hirschsprung Disease Ganglioneuroblastoma 28

Anatomical Context for Hirschsprung Disease Ganglioneuroblastoma

Publications for Hirschsprung Disease Ganglioneuroblastoma

Variations for Hirschsprung Disease Ganglioneuroblastoma

ClinVar genetic disease variations for Hirschsprung Disease Ganglioneuroblastoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PHOX2B NM_003924.3(PHOX2B): c.421C> G (p.Arg141Gly) single nucleotide variant Pathogenic rs28939716 GRCh37 Chromosome 4, 41749374: 41749374
2 PHOX2B PHOX2B, 1-BP DEL, 676G deletion Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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