MCID: HRS003
MIFTS: 12

Hirschsprung Disease Ganglioneuroblastoma malady

Rare diseases, Fetal diseases, Neuronal diseases categories

Summaries for Hirschsprung Disease Ganglioneuroblastoma

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MalaCards based summary: Hirschsprung Disease Ganglioneuroblastoma, also known as hirschsprung disease - ganglioneuroblastoma, is related to neuroblastoma 2, and has symptoms including abnormality of the pupil, hyperhidrosis and seizures.

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hirschsprung Disease Ganglioneuroblastoma, Aliases & Descriptions:

Name: Hirschsprung Disease Ganglioneuroblastoma 41 60
Hirschsprung Disease - Ganglioneuroblastoma 47
 
Neuroblastoma with Hirschsprung Disease 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


External Ids:

Orphanet47 2151
MESH via Orphanet34 C538119
ICD10 via Orphanet26 Q43.1
UMLS via Orphanet61 C2751683

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 210.2

Symptoms for Hirschsprung Disease Ganglioneuroblastoma

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Symptoms:

 47
  • 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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Drug clinical trials:

Search ClinicalTrials for Hirschsprung Disease Ganglioneuroblastoma

Search 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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Compounds for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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GO Terms for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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Products for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hirschsprung Disease Ganglioneuroblastoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet