Human genes for histiocytosis-lymphadenopathy plus syndrome
Histiocytosis-lymphadenopathy plus syndrome [DOID:0111278]
A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
Synonyms: histiocytosis-lymphadenopathy plus syndrome, DOID:0111278, histiocytosislymphadenopathy plus syndrome, histiocytosis-lymphadenopathy plus disease, histiocytosis-lymphadenopathy plus disorder ...