Human Disease and Mouse Model Detail

Human Disease

Term: Histiocytosis-Lymphadenopathy Plus Syndrome
OMIM ID: 602782

Synonyms

Faisalabad Histiocytosis; 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; H Syndrome; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or without Hearing Loss; Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus; PHID; Rosai-Dorfman Disease, Familial; Sinus Histiocytosis and Massive Lymphadenopathy; SHML

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Slc29a3

SLC29A3

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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