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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 HPS1 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.
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