Details of Disease | DrugMAP

General Information of Disease (ID: DISE3DNQ)

Disease Name	Congenital analbuminemia
Synonyms	analbuminemia; ANALBA
Definition	Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
Disease Hierarchy	DISYKSRF: Genetic disease DISAWDAB: Congenital hematological disorder DISE3DNQ: Congenital analbuminemia
Disease Identifiers	MONDO ID MONDO_0014449 UMLS CUI C4305253 MedGen ID 930922 Orphanet ID 86816 SNOMED CT ID 718721006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALB	TTFNGC9	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALB	OTVMM513	Definitive	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.