Disorders

Histiocytosis-Lymphadenopathy Plus Syndrome

Synonym(s): 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, Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or without Hearing Loss, Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus, Sinus Histiocytosis and Massive Lymphadenopathy

OMIM

Gene	Locus	Protein
SLC29A3	10q22.2	Equilibrative nucleoside transporter 3

Laboratory	Test Method	Prenatal	Carrier *
South Eastern Area Laboratory Services, NSW Health Pathology,, SEALS Genetics Laboratory - Sydney, Australia
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.