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

Aliases & Descriptions for Urod-Related Porphyrias:

Name: Urod-Related Porphyrias 24
Uroporphyrinogen Decarboxylase Deficiency 24 69
Hepatoerythropoietic Porphyria 24 69
Uroporphyrinogen Decarboxylase 13

Classifications:



Summaries for Urod-Related Porphyrias

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

Diseases in the Porphyria family:

Acute Porphyria Urod-Related Porphyrias

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

id Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda 12.2
2 porphyria 11.5
3 familial porphyria cutanea tarda 10.2
4 hepatitis 9.9
5 viral hepatitis 9.9
6 hypertrichosis 9.9

Graphical network of the top 20 diseases related to Urod-Related Porphyrias:



Diseases related to Urod-Related Porphyrias

Symptoms & Phenotypes for Urod-Related Porphyrias

Drugs & Therapeutics for Urod-Related Porphyrias

Search Clinical Trials , NIH Clinical Center for Urod-Related Porphyrias

Genetic Tests for Urod-Related Porphyrias

Genetic tests related to Urod-Related Porphyrias:

id Genetic test Affiliating Genes
1 Urod-Related Porphyrias 24 UROD

Anatomical Context for Urod-Related Porphyrias

Publications for Urod-Related Porphyrias

Variations for Urod-Related Porphyrias

ClinVar genetic disease variations for Urod-Related Porphyrias:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UROD NM_000374.4(UROD): c.842G> A (p.Gly281Glu) single nucleotide variant Pathogenic rs121918057 GRCh37 Chromosome 1, 45480475: 45480475
2 UROD NM_000374.4(UROD): c.499G> A (p.Glu167Lys) single nucleotide variant Pathogenic rs121918058 GRCh37 Chromosome 1, 45479605: 45479605
3 UROD NM_000374.4(UROD): c.874C> G (p.Arg292Gly) single nucleotide variant Pathogenic rs121918059 GRCh37 Chromosome 1, 45480507: 45480507
4 UROD NM_000374.4(UROD): c.185C> T (p.Pro62Leu) single nucleotide variant Pathogenic rs121918060 GRCh37 Chromosome 1, 45478859: 45478859
5 UROD NM_000374.4(UROD): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs121918061 GRCh37 Chromosome 1, 45480668: 45480668

Expression for Urod-Related Porphyrias

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

Pathways for Urod-Related Porphyrias

GO Terms for Urod-Related Porphyrias

Sources for Urod-Related Porphyrias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....