MCID: HRS003
MIFTS: 15

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, is also known as neuroblastoma with hirschsprung disease, and has symptoms including abnormality of the pupil, hyperhidrosis and seizures. 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, 61UMLS, 46OMIM, 48Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Hirschsprung Disease Ganglioneuroblastoma, Aliases & Descriptions:

Name: Hirschsprung Disease Ganglioneuroblastoma 42 61
Neuroblastoma with Hirschsprung Disease 42 46 61
 
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 Orphanet27 Q43.1
UMLS via Orphanet62 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:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hirschsprung Disease Ganglioneuroblastoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet