| Metadata | |
|---|---|
| ID | DOID:0111278 |
| Name | histiocytosis-lymphadenopathy plus syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/20140240 |
| Xrefs |
ICDO:9749/3 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss [EXACT] Faisalabad histiocytosis [EXACT] familial Rosai-Dorfman disease [EXACT] H syndrome [EXACT] histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness [EXACT] histiocytosis with joint contractures and sensorineural deafness [EXACT] HJCD [EXACT] PHID [EXACT] pigmented hypertrichosis with insulin-dependent diabetes mellitus [EXACT] Rosai–Dorfman disease [EXACT] SHML [EXACT] sinus histiocytosis and massive lymphadenopathy [EXACT] |
| Parent Relationships |
is_a syndrome |