Details of Disease | DrugMAP

General Information of Disease (ID: DISK0BQA)

Disease Name	Krabbe disease due to saposin A deficiency
Synonyms	saposin A deficiency; Krabbe disease, atypical, due to saposin A deficiency; Krabbe disease, atypical; Krabbe disease, atypical due to saposin A deficiency
Disease Hierarchy	DISPGGVL: Syndromic dyslipidemia DISK8ST9: PSAP-related sphingolipidosis DISK0BQA: Krabbe disease due to saposin A deficiency
Disease Identifiers	MONDO ID MONDO_0012720 MESH ID C567097 UMLS CUI C2673266 OMIM ID 611722 MedGen ID 392873

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
GALC	TT5IZRB	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSAP	OTUOEKY7	Definitive	Autosomal recessive	[2]
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References

1	Globoid cell leukodystrophy (Krabbe's disease): update.J Child Neurol. 2003 Sep;18(9):595-603. doi: 10.1177/08830738030180090201.
2	A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. Mol Genet Metab. 2005 Feb;84(2):160-6. doi: 10.1016/j.ymgme.2004.10.004.