Version: 8.0.0
Date: Tue Jan 28 2025
histiocytosis-lymphadenopathy plus syndrome
DOID:0111278
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

histiocytosis-lymphadenopathy plus syndrome

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.
Synonyms
  • cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
  • Faisalabad histiocytosis
Cross References
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