Search Ontology:
Human Disease
histiocytosis-lymphadenopathy plus syndrome
- Term ID
- DOID:0111278
- 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
- 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
- References
-
- GARD:7588
- ICDO:9749/3
- MIM:602782
- NCI:C36075
- Ontology
- Human Disease ( DOID:0111278 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models