MCID: HRS003
MIFTS: 15

Hirschsprung Disease Ganglioneuroblastoma malady

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

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

Aliases & Descriptions for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 50 69
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 56 29
Neuroblastoma with Hirschsprung Disease 50

Classifications:



External Ids:

Orphanet 56 ORPHA2151
MESH via Orphanet 43 C538119
UMLS via Orphanet 70 C2751683
ICD10 via Orphanet 34 Q43.1

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 seizures, hyperhidrosis and arrhythmia. 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:

id Related Disease Score Top Affiliating Genes
1 neuroblastoma 2 11.2

Symptoms & Phenotypes for Hirschsprung Disease Ganglioneuroblastoma

Human phenotypes related to Hirschsprung Disease Ganglioneuroblastoma:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
3 arrhythmia 56 32 Very frequent (99-80%) HP:0011675
4 prolonged qt interval 56 32 Very frequent (99-80%) HP:0001657
5 aganglionic megacolon 56 32 Very frequent (99-80%) HP:0002251
6 abnormality of the pupil 56 32 Very frequent (99-80%) HP:0000615
7 ganglioneuroblastoma 56 32 Very frequent (99-80%) HP:0006747
8 neoplasm of the nervous system 56 Very frequent (99-80%)

Drugs & Therapeutics for Hirschsprung Disease Ganglioneuroblastoma

Interventional clinical trials:


id Name Status NCT ID Phase
1 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020

Search NIH Clinical Center for Hirschsprung Disease Ganglioneuroblastoma

Genetic Tests for Hirschsprung Disease Ganglioneuroblastoma

Genetic tests related to Hirschsprung Disease Ganglioneuroblastoma:

id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....