Gene Role Disease OMIM Descriptions Sources
LRRC8A causing AGM5 613506 The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains. A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. [read more] 14660746
LRRK2 causing PARK8 607060 The disease is caused by mutations affecting the gene represented in this entry. A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients. [read more] 21850687
16321986
16269541
15541309
15541308
16081470
16087219
15726496
15732108
15852371
16240353
15880653
15929036
16251215
16272164
16333314
16272257
15680455
15680456
15680457
15811454
16250030
16172858
16157901
16247070
16157908
16157909
15925109
16298482
16102999
16533964
17019612
18213618
21641266
22956510
MAGT1 causing MRX95 300716 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [read more] 18455129
MAK causing RP62 614181 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. [read more] 21825139
21835304
MALT1 A chromosomal aberration involving MALT1 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma). Translocation t(11;18)(q21;q21) with BIRC2. This translocation is found in approximately 50% of cytogenetically abnormal low-grade MALT lymphoma. [read more]
MAN1B1 causing MRT15 614202 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. [read more] 21763484
MATN3 causing SEMD-MATN3 608728 The disease is caused by mutations affecting the gene represented in this entry. A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies. [read more]
MATR3 causing MPD2 606070 The disease is caused by mutations affecting the gene represented in this entry. A muscular disorder characterized by distal weakness, with onset in hands and feet, associated with vocal cord and pharyngeal weakness causing a nasal voice and swallowing disorders. [read more] 19344878
MBD5 causing MRD1 156200 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. [read more] 17847001
MC2R causing GCCD1 202200 The disease is caused by mutations affecting the gene represented in this entry. A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. [read more] 8094489
8227361
8636348
10971458
12213892