MCID: AMN017
MIFTS: 8

Aminolevulinic Acid Dehydratase Deficiency Porphyria

Categories: Blood diseases

Aliases & Classifications for Aminolevulinic Acid Dehydratase Deficiency Porphyria

MalaCards integrated aliases for Aminolevulinic Acid Dehydratase Deficiency Porphyria:

Name: Aminolevulinic Acid Dehydratase Deficiency Porphyria 73

Classifications:



Summaries for Aminolevulinic Acid Dehydratase Deficiency Porphyria

MalaCards based summary : Aminolevulinic Acid Dehydratase Deficiency Porphyria is related to aminolevulinate dehydratase deficiency porphyria and porphyria. An important gene associated with Aminolevulinic Acid Dehydratase Deficiency Porphyria is ALAD (Aminolevulinate Dehydratase).

Wikipedia : 73 Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", "plumboporphyria",... more...

Related Diseases for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Diseases related to Aminolevulinic Acid Dehydratase Deficiency Porphyria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aminolevulinate dehydratase deficiency porphyria 11.5
2 porphyria 10.5
3 bronchopneumonia 10.3
4 guillain-barre syndrome 10.3
5 inappropriate adh syndrome 10.3
6 tyrosinemia 10.3

Graphical network of the top 20 diseases related to Aminolevulinic Acid Dehydratase Deficiency Porphyria:



Diseases related to Aminolevulinic Acid Dehydratase Deficiency Porphyria

Symptoms & Phenotypes for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Drugs & Therapeutics for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Search Clinical Trials , NIH Clinical Center for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Genetic Tests for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Anatomical Context for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Publications for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Articles related to Aminolevulinic Acid Dehydratase Deficiency Porphyria:

# Title Authors PMID Year
1
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. 61
30385147 2019
2
Hepatic porphyria: A narrative review. 61
27796941 2016
3
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. 61
26132003 2015
4
The acute hepatic porphyrias: current status and future challenges. 61
20955962 2010
5
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. 61
18221605 2007
6
Human hereditary hepatic porphyrias. 61
12367763 2002
7
Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. 61
10211628 1999
8
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. 61
9732973 1998
9
[Porphyrin-synthesizing enzymes in erythrocyte]. 61
7616649 1995
10
delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. 61
7490911 1995

Variations for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Expression for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Search GEO for disease gene expression data for Aminolevulinic Acid Dehydratase Deficiency Porphyria.

Pathways for Aminolevulinic Acid Dehydratase Deficiency Porphyria

GO Terms for Aminolevulinic Acid Dehydratase Deficiency Porphyria

Sources for Aminolevulinic Acid Dehydratase Deficiency Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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