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histiocytosis-lymphadenopathy plus syndrome
Summary
- Synonym
-
- Faisalabad histiocytosis
- H syndrome
- HJCD
- PHID
- Rosai–Dorfman disease
- SHML
- cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
- familial Rosai-Dorfman disease
- histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
- histiocytosis with joint contractures and sensorineural deafness
- pigmented hypertrichosis with insulin-dependent diabetes mellitus
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111278
- Mondo Disease Ontology
- NCI Thesaurus
- OMIM
- GARD
Related Genes
