Harmonizome 3.0

lymphedema-cholestasis syndrome 1

progressive bifocal chorioretinal atrophy 1

supranuclear palsy, progressive, 2

Supranuclear palsy, progressive, 3

macular dystrophy, retinal, 4 (North Carolina type with progressive sensorineural hearing loss)

hyperpigmentation, progressive, 1

gliosis, familial progressive subcortical

nephropathy, progressive, with deafness

Progressive familial heart block, type II

Renal failure, progressive, with hypertension

Progressive familial heart block, type I, locus 1

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

progressive rod-cone degeneration

This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

Cataract, congenital, nuclear progressive

cerebellar atrophy with progressive microcephaly