Details of DSP gene in Homo sapiens
Disease |
Disease |
OMIM id |
Keratoderma, palmoplantar, striate 2 (SPPK2) [MIM:612908]: A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612908 |
Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676]: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. |
605676 |
Familial arrhythmogenic right ventricular dysplasia 8 (ARVD8) [MIM:607450]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations affecting the gene represented in this entry. |
607450 |
Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]: An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. Note=The disease is caused by mutations affecting the gene represented in this entry. |
607655 |
Epidermolysis bullosa, lethal acantholytic (EBLA) [MIM:609638]: A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. Note=The disease is caused by mutations affecting the gene represented in this entry. |
609638 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal external genitalia, Abnormality of body weight, Abnormality of cardiovascular system physiology, Abnormality of dental eruption, Abnormality of finger, Abnormality of hair texture, Abnormality of head and neck, Abnormality of limb bone morphology, Abnormality of male external genitalia, Abnormality of phalanx of finger, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of the cardiovascular system, Abnormality of the digits, Abnormality of the distal phalanx of finger, Abnormality of the eyebrow, Abnormality of the eyelashes, Abnormality of the eyelid, Abnormality of the face, Abnormality of the foot, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hand, Abnormality of the head, Abnormality of the heart, Abnormality of the integument, Abnormality of the lower limb, Abnormality of the male genitalia, Abnormality of the mouth, Abnormality of the myocardium, Abnormality of the nail, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the palm, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the plantar skin of foot, Abnormality of the preputium, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the teeth, Abnormality of the upper limb, Abnormality of toe, Advanced eruption of teeth, All, Alopecia, Aplasia cutis congenita, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiac arrest, Cardiomyopathy, Congestive heart failure, Death, Decreased body weight, Epidermal thickening, Failure to thrive, Generalized abnormality of skin, Growth abnormality, Heterogeneous, Hyperkeratosis, Localized skin lesion, Malformation of the heart and great vessels, Mode of inheritance, Nail dysplasia, Natal tooth, Neonatal death, Onset and clinical course, Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratosis with erythema and scale, Phenotypic abnormality, Phimosis, Plantar hyperkeratosis, Regional abnormality of skin, Skin erosion, Sparse eyebrow, Sparse eyelashes, Sparse or absent hair, Sudden cardiac death, Tapered distal phalanges of finger, Thickened skin, Ventricular arrhythmia, Ventricular extrasystoles, Widely spaced toes, Woolly hair.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Dsp | --- | --- | --- |