MBTPS2 - dismech genes

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
IFAP Syndrome 1	causative germline	mechanism: Hypomorphic MBTPS2 Variant
Keratosis follicularis spinulosa decalvans	causative germline	mechanism: MBTPS2 Site-2 Protease Dysfunction subtype: X-linked KFSD
Osteogenesis Imperfecta Type XIX	untyped Causative
Keratosis Pilaris Atrophicans	no genetic record	subtype: Keratosis Follicularis Spinulosa Decalvans

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
IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213	XL	Definitive 2021-05-17	IFAP Syndrome 1 causative

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