Gene Role Disease OMIM Descriptions Sources
TINF2 causing DKCA3 613990 The disease is caused by mutations affecting the gene represented in this entry. A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. [read more] 18252230
TINF2 causing ERBMF 268130 The disease is caused by mutations affecting the gene represented in this entry. A disease characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, cerebellar hypoplasia, and growth retardation. ERBMF appears to be part of the dyskeratosis congenita disease spectrum. [read more] 18252230
WNT10A causing OODD 257980 The disease is caused by mutations affecting the gene represented in this entry. A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. [read more] 17847007
19559398
WRAP53 causing DKCB3 613988 The disease is caused by mutations affecting the gene represented in this entry. A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. [read more] 21205863
ZMPSTE24 causing LTSCS 275210 The disease is caused by mutations affecting the gene represented in this entry. Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. [read more] 15317753
ZNF750 causing SLDP 610227 The disease is caused by mutations affecting the gene represented in this entry. Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders. [read more] 16751772