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:
27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 48 68
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 54 27
 
Neuroblastoma with Hirschsprung Disease 48

Classifications:



External Ids:

Orphanet54 ORPHA2151
MESH via Orphanet40 C538119
UMLS via Orphanet69 C2751683
ICD10 via Orphanet31 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 & Phenotypes for Hirschsprung Disease Ganglioneuroblastoma

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Human phenotypes related to Hirschsprung Disease Ganglioneuroblastoma:

 64 54 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pupil64 54 hallmark (90%) Very frequent (99-80%) HP:0000615
2 hyperhidrosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000975
3 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
4 aganglionic megacolon64 54 hallmark (90%) Very frequent (99-80%) HP:0002251
5 neoplasm of the nervous system64 54 hallmark (90%) Very frequent (99-80%) HP:0004375
6 arrhythmia64 54 hallmark (90%) Very frequent (99-80%) HP:0011675
7 prolonged qt interval54 Very frequent (99-80%)
8 ganglioneuroblastoma54 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 Ganglioneuroblastoma27

Anatomical Context for Hirschsprung Disease Ganglioneuroblastoma

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet