MCID: HRS003
MIFTS: 15

Hirschsprung Disease Ganglioneuroblastoma malady

Rare diseases, Fetal diseases, Neuronal diseases categories
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Summaries for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
47OMIM, 33MalaCards
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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:47 613013

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
43NIH Rare Diseases, 62UMLS, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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 43 62
neuroblastoma with hirschsprung disease 43 47
hirschsprung disease - ganglioneuroblastoma 49


External Ids:

MESH via Orphanet36 C538119
ICD10 via Orphanet26 Q43.1
UMLS via Orphanet63 C2751683

Related Diseases for Hirschsprung Disease Ganglioneuroblastoma

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Symptoms for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

613013

Symptoms:

49
  • 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:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
2BioGPS, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet