MCID: HRS003
MIFTS: 13

Hirschsprung Disease Ganglioneuroblastoma malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 45 65
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 51 24
 
Neuroblastoma with Hirschsprung Disease 45

Classifications:



External Ids:

Orphanet51 2151
ICD10 via Orphanet28 Q43.1
MESH via Orphanet37 C538119
UMLS via Orphanet66 C2751683
UMLS65 C2751683

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.

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 211.7

Symptoms for Hirschsprung Disease Ganglioneuroblastoma

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Symptoms:

 51
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • hyperhidrosis/increased sweating
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • cardiac rhythm disorder/arrhythmia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Hirschsprung Disease Ganglioneuroblastoma:

(show all 6)
id Description Frequency HPO Source Accession
1 abnormality of the pupil hallmark (90%) HP:0000615
2 hyperhidrosis hallmark (90%) HP:0000975
3 seizures hallmark (90%) HP:0001250
4 aganglionic megacolon hallmark (90%) HP:0002251
5 neoplasm of the nervous system hallmark (90%) HP:0004375
6 arrhythmia hallmark (90%) HP:0011675

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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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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet