SPINK5

serine peptidase inhibitor Kazal type 5

2 disorders 1 no genetic record 1 untyped 5q32 gene with protein product

HGNC:15464 Monarch NCBI Gene 11005 ENSG00000133710 UniProt Q9NQ38 OMIM 605010

Aliases: VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184.

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
Netherton syndrome	untyped Causative	mechanism: Hair shaft structural fragility from follicular protease imbalance; SPINK5 loss-of-function variants
Inherited Ichthyosis	no genetic record	subtype: Netherton Syndrome

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
Netherton syndrome MONDO:0009735	AR	Definitive 2026-05-21	Inherited Ichthyosis no genetic record Netherton syndrome untyped

Mechanism modules · computed from kb/

epidermal_cornification_failure via Netherton syndrome

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