OBO ID: DOID:0111278
Term Name: histiocytosis-lymphadenopathy plus syndrome Search Ontology:
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
  • 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)
OTHER histiocytosis-lymphadenopathy plus syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome 602782
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None