MCID: HRS003
MIFTS: 15

Hirschsprung Disease Ganglioneuroblastoma malady

Rare diseases, Fetal diseases, Neuronal diseases categories

Summaries for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
48OMIM, 34MalaCards
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MalaCards: Hirschsprung Disease Ganglioneuroblastoma, is also known as neuroblastoma with hirschsprung disease, and has symptoms including seizures/epilepsy/absences/spasms/status epilepticus, hyperhidrosis/increased sweating and cardiac rhythm disorder/arrhythmia. An important gene associated with Hirschsprung Disease Ganglioneuroblastoma is PHOX2B (paired-like homeobox 2b).

Description from OMIM:48 613013

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
44NIH Rare Diseases, 63UMLS, 48OMIM, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

hirschsprung disease ganglioneuroblastoma 44 63
neuroblastoma with hirschsprung disease 44 48
hirschsprung disease - ganglioneuroblastoma 50


External Ids:

MESH via Orphanet37 C538119
ICD10 via Orphanet27 Q43.1
UMLS via Orphanet64 C2751683

Related Diseases for Hirschsprung Disease Ganglioneuroblastoma

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Symptoms for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
48OMIM, 50Orphanet
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Clinical features from OMIM:

613013

Symptoms:

50
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperhidrosis/increased sweating
  • cardiac rhythm disorder/arrhythmia
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • pupillary anomalies/mydriasis/myosis/tonic pupil

Drugs & Therapeutics for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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

Sources for Hirschsprung Disease Ganglioneuroblastoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet