Gene Role Disease OMIM Descriptions Sources
ABCA1 causing HDLD2 604091 The disease is caused by mutations affecting the gene represented in this entry. Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. [read more] 10431236
11086027
10938021
16226177
10533863
12204794
12009425
15722566
ABCA4 susceptibility ARMD2 153800 Disease susceptibility is associated with variations affecting the gene represented in this entry. A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. [read more] 9466990
9295268
19028736
ABCA4 causing CORD3 604116 The disease is caused by mutations affecting the gene represented in this entry. An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. [read more] 9466990
11385708
11527935
10958761
ABCA4 causing FFM 248200 The disease is caused by mutations affecting the gene represented in this entry. Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. [read more] 9466990
9781034
11385708
11379881
ABCA4 causing RP19 601718 The disease is caused by mutations affecting the gene represented in this entry. A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. [read more] 9466990
ABCB11 causing BRIC2 605479 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. [read more] 15300568
16039748
ABHD11 ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. [read more]
ABHD12 causing PHARC 612674 The disease is caused by mutations affecting the gene represented in this entry. A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. [read more] 20797687
ACAD8 causing IBDD 611283 The disease is caused by mutations affecting the gene represented in this entry. The symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). [read more] 12359132
15505379
16857760
ACADL causing ACADVLD 201475 The disease is caused by mutations affecting the gene represented in this entry. An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. [read more]