Gene Role Disease OMIM Descriptions Sources
RBPJ causing AOS3 614814 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. [read more] 22883147
RDX causing DFNB24 611022 The disease is caused by mutations affecting the gene represented in this entry. A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [read more] 17226784
RECQL4 causing BGS 218600 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. [read more] 15964893
REEP1 causing SPG31 610250 The disease is caused by mutations affecting the gene represented in this entry. A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [read more] 16826527
22703882
20718791
21618648
REN causing RTD 267430 The disease is caused by mutations affecting the gene represented in this entry. Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). [read more] 16116425
RET causing MTC 155240 The disease is caused by mutations affecting the gene represented in this entry. Rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and where MTC is the only clinical manifestation. [read more] 7881414
9259198
7849720
7874109
8625130
7845675
7784092
8557249
8807338
9398735
9223675
9677065
9452077
9506724
9621513
10323403
10826520
11692159
RHBDF2 causing TOC 148500 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer. [read more] 22265016
RHO causing CSNBAD1 610445 The disease is caused by mutations affecting the gene represented in this entry. A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. [read more] 8358437
7846071
9888392
RIPK4 causing PPS-L 263650 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported. [read more] 22197488
22197489
RLBP1 causing ARRP 268000 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] 9326942