FH

fumarate hydratase

3 disorders 2 untyped 1 causative 1q43 gene with protein product

HGNC:3700 Monarch NCBI Gene 2271 ENSG00000091483 UniProt P07954 OMIM 136850

Aliases: FUM.

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
Hereditary Leiomyomatosis and Renal Cell Cancer	causative germlinegermline and somatic loss of function	mechanism: Germline FH First-Hit Inactivation; Somatic FH Second-Hit Inactivation and Biallelic Loss
Pheochromocytoma and Paraganglioma	untyped Germline Loss-of-Function Mutations
Uterine Leiomyoma	untyped germline and somaticsomatic gain of function	mechanism: Driver Mutation-Initiated Clonal Transformation; Fumarate Accumulation in FH-Deficient Leiomyoma subtype: FH-deficient

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
hereditary leiomyomatosis and renal cell cancer MONDO:0007888	AD	Definitive 2020-05-14	Hereditary Leiomyomatosis and Renal Cell Cancer causative

Mechanism modules · computed from kb/

germline_two_hit_tumor_predisposition via Hereditary Leiomyomatosis and Renal Cell Cancer
oncometabolite_dioxygenase_inhibition via Uterine Leiomyoma

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