Details of Disease | DrugMAP

General Information of Disease (ID: DIS3EXTY)

Disease Name	Porphyria due to ALA dehydratase deficiency
Synonyms	Lead poisoning, susceptibility to; porphyria, ALAD; Doss porphyria; Delta-aminolevulinate dehydratase deficiency; 5-aminolevulinic acid dehydratase deficiency porphyria; ALA dehydratase deficiency pophyria; porphyria, acute hepatic; porphobilinogen synthase deficiency; ALAD deficiency; aminolevulinate dehydratase deficiency porphyria; ALAD Porphyria; porphyria due to delta-aminolevulinate dehydratase deficiency; ALAD porphyria; porphyria due to ALA dehydratase deficiency; porphyria of Doss; porphyria due to ALAD deficiency; acute hepatic porphyria
Definition	Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.
Disease Hierarchy	DISMI8EV: Hepatic porphyria DISEPFG2: Inherited porphyria DIS3EXTY: Porphyria due to ALA dehydratase deficiency
Disease Identifiers	MONDO ID MONDO_0013000 MESH ID C562618 UMLS CUI C0268328 OMIM ID 612740 MedGen ID 78659 Orphanet ID 100924 SNOMED CT ID 64081000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALAD	TTJHKYD	Limited	Biomarker	[1]
PPOX	TTNFMS9	Strong	Biomarker	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAD	DETBNY4	Strong	Autosomal recessive	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALAD	OTHM9GSH	Strong	Autosomal recessive	[3]
CPOX	OTIAY121	Strong	Altered Expression	[4]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	Hepatocellular carcinoma in variegate porphyria: a serious complication.Acta Derm Venereol. 2010 Sep;90(5):512-5. doi: 10.2340/00015555-0870.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4	Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20.