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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MalaCards based summary: Hirschsprung Disease Ganglioneuroblastoma, is also known as neuroblastoma with hirschsprung disease, and has symptoms including pupillary anomalies/mydriasis/myosis/tonic pupil, hyperhidrosis/increased sweating and dolichocolon/megacolon/megadolichocolon/hirschsprung's disease. An important gene associated with Hirschsprung Disease Ganglioneuroblastoma is PHOX2B (paired-like homeobox 2b).

Description from OMIM:46 613013

Aliases & Classifications for Hirschsprung Disease Ganglioneuroblastoma

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Sources:
42NIH Rare Diseases, 62UMLS, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hirschsprung Disease Ganglioneuroblastoma, Aliases & Descriptions:

Name: Hirschsprung Disease Ganglioneuroblastoma 42 62
Neuroblastoma with Hirschsprung Disease 42 46 62
 
Hirschsprung Disease - Ganglioneuroblastoma 48


Classifications:

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


External Ids:

MESH via Orphanet35 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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Clinical features from OMIM:

613013

Symptoms:

48
  • 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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Clinvar genetic disease variations for Hirschsprung Disease Ganglioneuroblastoma:

6
id Gene Name Type Significance SNP ID Assembly Location
1PHOX2BNM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu)single nucleotide variantrisk factorrs104893855GRCh37Chr 4, 41749496: 41749496
2PHOX2BNM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp)single nucleotide variantrisk factorrs104893856GRCh37Chr 4, 41748179: 41748179

Expression for genes affiliated with Hirschsprung Disease Ganglioneuroblastoma

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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

Sources for Hirschsprung Disease Ganglioneuroblastoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet