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Metadata
ID DOID:0111278
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/20140240
Xrefs

GARD:7588

ICDO:9749/3

NCI:C36075

OMIM:602782

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss [EXACT]

Faisalabad histiocytosis [EXACT]

familial Rosai-Dorfman disease [EXACT]

H syndrome [EXACT]

histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness [EXACT]

histiocytosis with joint contractures and sensorineural deafness [EXACT]

HJCD [EXACT]

PHID [EXACT]

pigmented hypertrichosis with insulin-dependent diabetes mellitus [EXACT]

Rosai–Dorfman disease [EXACT]

SHML [EXACT]

sinus histiocytosis and massive lymphadenopathy [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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