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    Lysosomal Disorders


Farber lipogranulomatosis ( MIM: 228000)

This is an extremely rare autosomal recessive lysosomal storage disease caused by mutations in the ASAH1 gene, where fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder. It is expressed in early infancy as lung disease, along with an enlarged liver and spleen (most severe form). These symptoms may include moderately impaired mental ability and problems with swallowing. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthomas which thicken around joints as the disease progresses. The liver, heart and kidneys may also be affected. Affected children develop symptoms within the first few weeks of life.

Hermansky-Pudlak Syndrome  ( MIM: 203300)

It is a rare autosomal recessive disorder characterised by oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Hermansky-Pudlak syndrome (HPS) can be caused by mutation in several genes: HPS1 ( MIM: 604982), HPS3 ( MIM: 606118), HPS4 ( MIM: 606682), HPS5 ( MIM: 607521), and HPS6 ( MIM: 607522). HPS2 ( MIM: 608233), AP3B1 ( MIM: 603401), DTNBP1 ( MIM: 607145) and BLOC1S3 ( MIM: 609762).

The database presently holds the data for HPSI only.

Cystinosis nephropathic ( MIM: 219800)

Cystinosis is a genetic lysosomal storage disorder characterized by the abnormal accumulation of the amino acid cystine in the lysosomes, affecting mainly the kidneys and eyes. There are three distinct types of cystinosis each with slightly different symptoms: nephropathic cystinosis (infants: poor growth and kidney problems), intermediate cystinosis (around age twelve to fifteen), and non-nephropathic or ocular cystinosis (only symptom is photophobia). Cystinosis occurs due to a mutation in the gene CTNS, located on chromosome 17, which codes for cystinosin, the lysosomal cystine transporter. All forms of cystinosis (nephropathic, juvenile and ocular) are autosomal recessive. Cystinosis affects approximately 1 in 100,000 to 200,000 newborns.