SMPD1

sphingomyelin phosphodiesterase 1

3 disorders 3 causative 11p15.4 gene with protein product

HGNC:11120 Monarch NCBI Gene 6609 ENSG00000166311 UniProt P17405 OMIM 607608

Aliases: ASM.

Normal function · from ai-gene-review (P17405, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Chronic Neurovisceral Acid Sphingomyelinase Deficiency	causative germline	mechanism: Partial Acid Sphingomyelinase Deficiency from SMPD1 Variants
Niemann-Pick Disease Type A	causative germline	mechanism: SMPD1 Loss of Function and Acid Sphingomyelinase Deficiency
Niemann-Pick Disease Type B	causative germline	mechanism: Residual Acid Sphingomyelinase Activity from SMPD1 Variants

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
acid sphingomyelinase deficiency MONDO:0100464	AR	Definitive 2022-07-08	no dismech entry

Mechanism modules · computed from kb/

lysosomal_substrate_accumulation via Chronic Neurovisceral Acid Sphingomyelinase Deficiency, Niemann-Pick Disease Type A, Niemann-Pick Disease Type B

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.