MCID: URD001
MIFTS: 10

Urod-Related Porphyrias malady

Categories: Genetic diseases, Liver diseases, Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Urod-Related Porphyrias

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Aliases & Descriptions for Urod-Related Porphyrias:

Name: Urod-Related Porphyrias 24
Uroporphyrinogen Decarboxylase Deficiency 24 68
 
Hepatoerythropoietic Porphyria 24 68
Uroporphyrinogen Decarboxylase 12

Classifications:



Summaries for Urod-Related Porphyrias

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MalaCards based summary: Urod-Related Porphyrias, also known as uroporphyrinogen decarboxylase deficiency, is related to porphyria cutanea tarda and porphyria. An important gene associated with Urod-Related Porphyrias is UROD (Uroporphyrinogen Decarboxylase).

Related Diseases for Urod-Related Porphyrias

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Diseases in the Porphyria family:

Acute Porphyria Congenital Porphyria
urod-related porphyrias

Diseases related to Urod-Related Porphyrias via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1porphyria cutanea tarda12.3
2porphyria10.7
3familial porphyria cutanea tarda10.2
4hepatitis9.9
5viral hepatitis9.9
6hypertrichosis9.9

Graphical network of diseases related to Urod-Related Porphyrias:



Diseases related to urod-related porphyrias

Symptoms & Phenotypes for Urod-Related Porphyrias

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Drugs & Therapeutics for Urod-Related Porphyrias

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Urod-Related Porphyrias

Genetic Tests for Urod-Related Porphyrias

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Genetic tests related to Urod-Related Porphyrias:

id Genetic test Affiliating Genes
1 Urod-Related Porphyrias24 UROD

Anatomical Context for Urod-Related Porphyrias

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Publications for Urod-Related Porphyrias

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Variations for Urod-Related Porphyrias

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Clinvar genetic disease variations for Urod-Related Porphyrias:

5
id Gene Variation Type Significance SNP ID Assembly Location
1URODNM_000374.4(UROD): c.842G> A (p.Gly281Glu)SNVPathogenicrs121918057GRCh37Chr 1, 45480475: 45480475

Expression for genes affiliated with Urod-Related Porphyrias

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Search GEO for disease gene expression data for Urod-Related Porphyrias.

Pathways for genes affiliated with Urod-Related Porphyrias

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GO Terms for genes affiliated with Urod-Related Porphyrias

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Sources for Urod-Related Porphyrias

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet