MCID: HRS003
MIFTS: 14

Hirschsprung Disease Ganglioneuroblastoma malady

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

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 47 67
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 53 26
 
Neuroblastoma with Hirschsprung Disease 47

Classifications:



External Ids:

Orphanet53 ORPHA2151
MESH via Orphanet39 C538119
UMLS via Orphanet68 C2751683
ICD10 via Orphanet30 Q43.1

Summaries for Hirschsprung Disease Ganglioneuroblastoma

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

Related Diseases for Hirschsprung Disease Ganglioneuroblastoma

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

idRelated DiseaseScoreTop Affiliating Genes
1neuroblastoma 211.2

Symptoms for Hirschsprung Disease Ganglioneuroblastoma

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Human phenotypes related to Hirschsprung Disease Ganglioneuroblastoma:

 63 53 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pupil63 53 hallmark (90%) Very frequent (99-80%) HP:0000615
2 hyperhidrosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000975
3 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
4 aganglionic megacolon63 53 hallmark (90%) Very frequent (99-80%) HP:0002251
5 neoplasm of the nervous system63 53 hallmark (90%) Very frequent (99-80%) HP:0004375
6 arrhythmia63 53 hallmark (90%) Very frequent (99-80%) HP:0011675
7 prolonged qt interval53 Very frequent (99-80%)
8 ganglioneuroblastoma53 Very frequent (99-80%)

Drugs & Therapeutics for Hirschsprung Disease Ganglioneuroblastoma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hirschsprung Disease Ganglioneuroblastoma

Genetic Tests for Hirschsprung Disease Ganglioneuroblastoma

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Genetic tests related to Hirschsprung Disease Ganglioneuroblastoma:

id Genetic test Affiliating Genes
1 Hirschsprung Disease Ganglioneuroblastoma26

Anatomical Context for Hirschsprung Disease Ganglioneuroblastoma

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Animal Models for Hirschsprung Disease Ganglioneuroblastoma or affiliated genes

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Publications for Hirschsprung Disease Ganglioneuroblastoma

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Variations for Hirschsprung Disease Ganglioneuroblastoma

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Clinvar genetic disease variations for Hirschsprung Disease Ganglioneuroblastoma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PHOX2BNM_003924.3(PHOX2B): c.421C> G (p.Arg141Gly)SNVPathogenicrs28939716GRCh37Chr 4, 41749374: 41749374
2PHOX2BPHOX2B, 1-BP DEL, 676GdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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

Pathways for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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GO Terms for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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Sources for Hirschsprung Disease Ganglioneuroblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet