pheochromocytoma/paraganglioma syndrome 1
An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0000448
paraganglioma
is_a
MONDO:0017366
hereditary pheochromocytoma-paraganglioma
is_a
PGL1
related
SDHD paraganglioma
exact
SDHD-related tumor predisposition
exact
carotid body tumours
related
glomus jugulare tumours
related
paraganglioma caused by mutation in SDHD
exact
paragangliomas 1
exact
paragangliomas 1, with or without deafness
exact
paragangliomas type 1
exact
pheochromocytoma/paraganglioma syndrome 1
exact
SPBP23A10.16