H syndrome | |
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Other names | Histiocytosis-lymphadenopathy plus syndrome |
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This condition is inherited in an autosomal recessive manner |
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]
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]
Exophthalmos, malabsorption and renal anomalies have also been reported.[ citation needed]
The SLC29A3 gene is located on the long arm of chromosome 10 (10q22).[ citation needed]The causative gene was identified in 2010. [4]
This is not understood at present.[ citation needed]
There is no curative treatment for this condition at present. Management is directed to the clinical features.[ citation needed]
This condition was first described in 1998. [5]
H syndrome | |
---|---|
Other names | Histiocytosis-lymphadenopathy plus syndrome |
![]() | |
This condition is inherited in an autosomal recessive manner |
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]
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]
Exophthalmos, malabsorption and renal anomalies have also been reported.[ citation needed]
The SLC29A3 gene is located on the long arm of chromosome 10 (10q22).[ citation needed]The causative gene was identified in 2010. [4]
This is not understood at present.[ citation needed]
There is no curative treatment for this condition at present. Management is directed to the clinical features.[ citation needed]
This condition was first described in 1998. [5]