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H syndrome
Medical condition From Wikipedia, the free encyclopedia
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H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID,[1] is a rare genetic condition caused by mutations in the SLC29A3 gene which encode the human equilibrative nucleoside transporter (hENT3) protein.[2]
It is also known as Faisalabad histiocytosis, familial Rosai-Dorfman disease, sinus histiocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [3]
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Presentation
This syndrome has a number of different clinical features many of which start with the letter 'H' giving rise to the name of the syndrome. These features include[citation needed]
- Hyperpigmentation
- Hypertrichosis
- Hepatosplenomegaly
- Hearing loss
- Heart anomalies
- Hypogonadism
- Low height (short stature)
- Hyperglycemia/diabetes mellitus
- Hallux valgus/flexion contractures
Exophthalmos, malabsorption and renal anomalies have also been reported.[citation needed]
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Genetics
The SLC29A3 gene is located on the long arm of chromosome 10 (10q22).[citation needed]The causative gene was identified in 2010.[4]
Pathogenesis
This is not understood at present.[citation needed]
Diagnosis
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Management
There is no curative treatment for this condition at present. Management is directed to the clinical features.[citation needed]
History
This condition was first described in 1998.[5]
References
External links
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