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:
46NIH Rare Diseases, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hirschsprung Disease Ganglioneuroblastoma:

Name: Hirschsprung Disease Ganglioneuroblastoma 46 66
Hirschsprung Disease-Ganglioneuroblastoma Syndrome 52 25
 
Neuroblastoma with Hirschsprung Disease 46

Classifications:



External Ids:

Orphanet52 ORPHA2151
ICD10 via Orphanet29 Q43.1
MESH via Orphanet38 C538119
UMLS via Orphanet67 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 211.3

Symptoms for Hirschsprung Disease Ganglioneuroblastoma

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Symptoms:

 52 (show all 8)
  • abnormality of the pupil
  • hyperhidrosis
  • seizures
  • prolonged qt interval
  • aganglionic megacolon
  • neoplasm of the nervous system
  • ganglioneuroblastoma
  • arrhythmia

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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Genetic tests related to Hirschsprung Disease Ganglioneuroblastoma:

id Genetic test Affiliating Genes
1 Hirschsprung Disease Ganglioneuroblastoma25

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet