histiocytosis-lymphadenopathy plus syndrome (DOID:0111278)
Alliance: disease page
Synonyms: cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; Faisalabad histiocytosis; familial Rosai-Dorfman disease; H syndrome; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; histiocytosis with joint contractures and sensorineural deafness; HJCD; PHID; pigmented hypertrichosis with insulin-dependent diabetes mellitus; Rosai Dorfman disease; SHML; sinus histiocytosis and massive lymphadenopathy
Alt IDs: OMIM:602782, NCI:C36075
Definition: 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.