MCID: HRS003
MIFTS: 17

Hirschsprung Disease Ganglioneuroblastoma

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

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

MalaCards integrated aliases for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 53 29 6 73
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 59
Neuroblastoma with Hirschsprung Disease 53

Classifications:



External Ids:

Orphanet 59 ORPHA2151
MESH via Orphanet 45 C538119
UMLS via Orphanet 74 C2751683
ICD10 via Orphanet 34 Q43.1
UMLS 73 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). Related phenotypes are hyperhidrosis and seizures

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 30.4 LOC105374425 PHOX2B

Symptoms & Phenotypes for Hirschsprung Disease Ganglioneuroblastoma

Human phenotypes related to Hirschsprung Disease Ganglioneuroblastoma:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 prolonged qt interval 59 32 hallmark (90%) Very frequent (99-80%) HP:0001657
4 aganglionic megacolon 59 32 hallmark (90%) Very frequent (99-80%) HP:0002251
5 ganglioneuroblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006747
6 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
7 abnormality of the pupil 59 Very frequent (99-80%)
8 neoplasm of the nervous system 59 Very frequent (99-80%)
9 abnormal pupil morphology 32 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 29

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 NM_003924.3(PHOX2B): c.421C> G (p.Arg141Gly) single nucleotide variant Pathogenic rs28939716 GRCh38 Chromosome 4, 41747357: 41747357
3 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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