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Results 1 - 10 of 10 for melanonychia OR nail hyperpigmentation OR normal variant
  1. Pachyonychia congenita 
    ... tissues that make up the skin, hair, and nails.Variants in keratin genes alter ... congenita, normal activities such as standing and walking cause skin ...
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita - Genetics
  2. Trichothiodystrophy 
    ... problems with the transcription of genes needed for normal development before and after birth.Variants in at least seven genes have been reported ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  3. Weyers acrofacial dysostosis 
    ... disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two ( ...
    https://medlineplus.gov/.../condition/weyers-acrofacial-dysostosis - Genetics
  4. Tuberous sclerosis complex 
    ... the condition may be caused by a random variant in the TSC1 or TSC2 gene that occurs very early in development. As a result, some of the body's cells have a normal version of the gene, while others have the ...
    https://medlineplus.gov/.../condition/tuberous-sclerosis-complex - Genetics
  5. Darier disease 
    ... number of activities that are important for the normal development and function of cells. SERCA2 allows calcium ions to pass into and out of the cell in response to cell signals. ATP2A2 gene variants result in insufficient amounts of functional SERCA2 enzyme. ...
    https://medlineplus.gov/genetics/condition/darier-disease - Genetics
  6. Dyskeratosis congenita 
    ... adulthood.While most people with dyskeratosis congenita have normal ... severe variant called Revesz syndrome involves abnormalities in the light- ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  7. Oculodentodigital dysplasia 
    ... throughout the body.Most of the GJA1 gene variants that cause oculodentodigital ... with normal cell growth and cell specialization. These two processes ...
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia - Genetics
  8. Methemoglobinemia, beta-globin type 
    ... releases in tissues throughout the body. Instead of normal hemoglobin, people ... lips, and nails (cyanosis), which usually first appears around the age ...
    https://medlineplus.gov/.../methemoglobinemia-beta-globin-type - Genetics
  9. Ellis-van Creveld syndrome 
    ... Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short ... of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum ...
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome - Genetics
  10. Charcot-Marie-Tooth disease 
    ... MARIE-TOOTH DISEASE AND DEAFNESS KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY HYPERTROPHIC NEUROPATHY ... Kanda T, Okamoto Y, Takashima H. Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics