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 )