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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
Ontology
Human Disease   ( DOID:0111278 )
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Zebrafish Models