Search Result

 Top
41 to 80 of 263 Prev 1 2 3 4 5 6 7 Next
Entry Name Description Category Pathway Gene
H00640 Limb-mammary syndrome ... condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects. Congenital malformation TP63 [HSA:8626] [KO:K10149]
H00644 Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms ... Congenital malformation PKP1 [HSA:5317] [KO:K10387]
H00647 Ectodermal dysplasia-syndactyly syndrome ... syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is ... Congenital malformation NECTIN4 [HSA:81607] [KO:K06593]
H00659 Shprintzen-Goldberg syndrome Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular ... Congenital malformation SKI [HSA:6497] [KO:K26503]
H00661 MASS phenotype MASS Phenotype (Mitral valve prolapse, Aortic dilatation without dissection, Skeletal and Skin abnormalities) is one of the FBN1-related disorders similar to Marfan syndrome. Reduced expression of FBN1 ... Congenital malformation FBN1 [HSA:2200] [KO:K06825]
H00663 Restrictive dermopathy ... genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles. Congenital malformation (RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013]
(RSDM2) LMNA [HSA:4000] [KO:K12641]
H00672 Pseudofolliculitis barbae Pseudofolliculitis barbae is a common skin disorder occurring predominantly in males of African origin, characterized by acneiform papules and pustules that result in keloidal scarring localized to the ... Skin disease KRT75 [HSA:9119] [KO:K07605]
H00681 Acne inversa
Hidradenitis suppurativa 		... of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include recurrent formation of painful skin abscesses, fistulating sinuses, and disfiguring scars. Skin disease (ACNINV1) NCSTN [HSA:23385] [KO:K06171]
(ACNINV2) PSENEN [HSA:55851] [KO:K06170]
(ACNINV3) PSEN1 [HSA:5663] [KO:K04505]
H00684 Pachyonychia congenita Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar ... Congenital malformation (PC1) KRT16 [HSA:3868] [KO:K07604]
(PC2) KRT17 [HSA:3872] [KO:K07604]
(PC3) KRT6A [HSA:3853] [KO:K07605]
(PC4) KRT6B [HSA:3854] [KO:K07605]
H00691 Bullous congenital ichthyosiform erythroderma (BCIE)
Epidermolytic hyperkeratosis (EHK) 		... erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE ... Congenital malformation (EHK1) KRT1 [HSA:3848] [KO:K07605]
(EHK2A/2B) KRT10 [HSA:3858] [KO:K07604]
H00693 Ichthyosis bullosa of Siemens ... mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known as the 'Mauserung phenomenon'. IBS shows similar features to those in epidermolytic hyperkeratosis ... Congenital malformation KRT2E [HSA:3849] [KO:K07605]
H00707 Ichthyosis hystrix, Curth-Macklin type Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural ... Congenital malformation KRT1 [HSA:3848] [KO:K07605]
H00708 Naegeli-Franceschetti-Jadassohn syndrome ... dominant disorder characterized by complete absence of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Enamel defects and nail dystrophy have been observed ... Congenital malformation KRT14 [HSA:3861] [KO:K07604]
H00712 KID/HID syndrome ... hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve ... Congenital malformation (KIDAD/HID) GJB2 [HSA:2706] [KO:K07621]
(KIDAR) AP1B1 [HSA:162] [KO:K12392]
H00715 Darier disease
Dyskeratosis follicularis 		Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and ... Congenital malformation ATP2A2 [HSA:488] [KO:K05853]
H00722 Epidermolytic palmoplantar keratoderma ... dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified ... Congenital malformation (EPPK1) KRT9 [HSA:3857] [KO:K07604]
(EPPK2) KRT1 [HSA:3848] [KO:K07605]
H00723 Non-epidermolytic palmoplantar keratoderma Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the ... Congenital malformation (NEPPK) KRT16 [HSA:3868] [KO:K07604]
(PPKNEFD) KRT6C [HSA:286887] [KO:K07605]
H00734 Autosomal recessive congenital ichthyosis Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ... Congenital malformation (ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619]
(ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021]
(ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684]
(ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646]
(ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731]
(ARCI6) NIPAL4 [HSA:348938] [KO:K22733]
(ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210]
(ARCI9) CERS3 [HSA:204219] [KO:K24622]
(ARCI10) PNPLA1 [HSA:285848] [KO:K16813]
(ARCI11) ST14 [HSA:6768] [KO:K08670]
(ARCI12) CASP14 [HSA:23581] [KO:K04401]
(ARCI13) SDR9C7 [HSA:121214] [KO:K24425]
(ARCI14) SULT2B1 [HSA:6820] [KO:K01015]
H00737 Peeling skin syndrome Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) ... Congenital malformation (PSS1) CDSN [HSA:1041] [KO:K23457]
(PSS2) TGM5 [HSA:9333] [KO:K05622]
(PSS3) CHST8 [HSA:64377] [KO:K09672]
(PSS4) CSTA [HSA:1475] [KO:K13907]
(PSS5) SERPINB8 [HSA:5271] [KO:K13965]
(PSS6) FLG2 [HSA:388698] [KO:K10384]
(PLACK) CAST [HSA:831] [KO:K04281]
H00738 Ichthyosis with confetti
Congenital reticular ichthyosiform erythroderma
Ichthyosis variegata 		Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches ... Congenital malformation KRT10 [HSA:3858] [KO:K07604]
H00739 Ichthyosis with hypotrichosis ... autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in patients with the disease. It is linked to ST14 encoding ... Congenital malformation ST14 [HSA:6768] [KO:K08670]
H00742 Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) 		... recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal cholestatic jaundice. Alopecia is also ... Congenital malformation CLDN1 [HSA:9076] [KO:K06087]
H00759 Waardenburg syndrome ... inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been classified based on the presence or absence of additional ... Inherited metabolic disorder (WS1/3) PAX3 [HSA:5077] [KO:K09381]
(WS2A) MITF [HSA:4286] [KO:K09455]
(WS2E/4C) SOX10 [HSA:6663] [KO:K09270]
(WS2F) KITLG [HSA:4254] [KO:K05461]
(WS4A) EDNRB [HSA:1910] [KO:K04198]
(WS4B) EDN3 [HSA:1908] [KO:K05227]
H00771 Inherited erythromelalgia
Primary erythromelalgia 		Inherited erythromelalgia (IEM) is characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait ... Skin disease SCN9A [HSA:6335] [KO:K04841]
H00780 Atrichia with papular lesions Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations ... Skin disease HR [HSA:55806] [KO:K00478]
H00782 Hypotrichosis and recurrent skin vesicles Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated ... Skin disease DSC3 [HSA:1825] [KO:K07602]
H00784 Localized autosomal recessive hypotrichosis ... on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis from almost normal to less dense condition. Patients' skin is normal. Skin disease (LAH1) DSG4 [HSA:147409] [KO:K07599]
(LAH2) LIPH [HSA:200879] [KO:K19404]
(LAH3) P2Y5 [HSA:10161] [KO:K04273]
H00786 Hypotrichosis Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... Skin disease (HYPT1) APCDD1 [HSA:147495] [KO:K25812]
(HYPT2) CDSN [HSA:1041] [KO:K23457]
(HYPT3) KRT74 [HSA:121391] [KO:K07605]
(HYPT4) HRURF [HSA:120766137]
(HYPT4/MUHH1) HR [HSA:55806] [KO:K00478]
(HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277]
(HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599]
(HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404]
(HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273]
(HYPT11) SNRPE [HSA:6635] [KO:K11097]
(HYPT12) RPL21 [HSA:6144] [KO:K02889]
(HYPT13) KRT71 [HSA:112802] [KO:K07605]
(HYPT14) LSS [HSA:4047] [KO:K01852]
(HYPT15) C3orf52 [HSA:79669] [KO:K26953]
H00793 Poikiloderma with neutropenia Poikiloderma with neutropenia is an inherited genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and ... Skin disease USB1 [HSA:79650] [KO:K23093]
H00795 Seborrhea-like dermatitis with psoriasiform element Seborrhea-like dermatosis with psoriasiform elements is a chronic dermatosis characterized by common dandruffs and eczematous or psoriasiform plaques. Enhanced keratinocyte proliferation and dermal infiltration ... Immune system disease; Skin disease ZNF750 [HSA:79755] [KO:K24377]
H00800 Loeys-Dietz syndrome ... dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent skin. LDS results from mutations in the TGF beta receptor genes. LDS has been subdivided in LDS1 and ... Congenital malformation (LDS1A/2A) TGFBR1 [HSA:7046] [KO:K04674]
(LDS1B/2B) TGFBR2 [HSA:7048] [KO:K04388]
(LDS3) SMAD3 [HSA:4088] [KO:K23605]
(LDS4) TGFB2 [HSA:7042] [KO:K13376]
(LDS5) TGFB3 [HSA:7043] [KO:K13377]
(LDS6) SMAD2 [HSA:4087] [KO:K04500]
H00802 Ehlers-Danlos syndrome ... heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in ... Congenital malformation (EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
(EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
(EDSCLL) TNXB [HSA:7148] [KO:K06252]
(EDSCLL2) AEBP1 [HSA:165] [KO:K21392]
H00804 Multiple cutaneous and uterine leiomyomata ... (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and from uterine fibroids in female patients. Some ... Neoplasm FH [HSA:2271] [KO:K01679]
H00817 Branchiooculofacial syndrome ... associated with rotated auricles with stenotic auditory canals and conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance ... Congenital malformation TFAP2A [HSA:7020] [KO:K09176]
H00818 Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years ... Congenital malformation (BHD1) FLCN [HSA:201163] [KO:K09594]
(BHD2) PRDM10 [HSA:56980] [KO:K24643]
H00828 Familial cylindromatosis ... autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation Neoplasm CYLD [HSA:1540] [KO:K08601]
H00831 Primary dystonia ... recognized. They can be divided into Primary torsion dystonias (PTDs), dystonia-plus syndromes without brain degeneration, dystonia-parkinsonism with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias. Nervous system disease (DYT1) TOR1A [HSA:1861] [KO:K22990]
(DYT2) HPCA [HSA:3208] [KO:K23846]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT4) TUBB4A [HSA:10382] [KO:K07375]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DYT6) THAP1 [HSA:55145] [KO:K23203]
(DYT8) PNKD [HSA:25953] [KO:K23864]
(DYT9) SLC2A1 [HSA:6513] [KO:K07299]
(DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897]
(DYT11) SGCE [HSA:8910] [KO:K27061]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575] [KO:K24540]
(DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922]
(DYT24) ANO3 [HSA:63982] [KO:K19498]
(DYT25) GNAL [HSA:2774] [KO:K04633]
(DYT26) KCTD17 [HSA:79734] [KO:K21914]
(DYT27) COL6A3 [HSA:1293] [KO:K06238]
(DYT28) KMT2B [HSA:9757] [KO:K14959]
(DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512]
(DYT30) VPS16 [HSA:64601] [KO:K20180]
(DYT31) AOPEP [HSA:84909] [KO:K09606]
(DYT32) VPS11 [HSA:55823] [KO:K20179]
(DYT33) EIF2AK2 [HSA:5610] [KO:K16195]
(DYT34) KCNN2 [HSA:3781] [KO:K04943]
(DYT35) SHQ1 [HSA:55164] [KO:K14764]
(DYT36/EKD3) TMEM151A [HSA:256472]
(DYT37) NUP54 [HSA:53371] [KO:K14308]
H00842 Epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis ... Skin disease (EV1) TMC6 [HSA:11322] [KO:K21988]
(EV2) TMC8 [HSA:147138] [KO:K21988]
(EV3) CIB1 [HSA:10519] [KO:K17259]
(EV4) RHOH [HSA:399] [KO:K07873]
(EV5) IL7 [HSA:3574] [KO:K05431]
H00843 Hartnup disorder ... transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused by hereditary abnormalities in the ... Inherited metabolic disorder SLC6A19 [HSA:340024] [KO:K05334]
H00844 Familial benign chronic pemphigus
Hailey-Hailey disease 		Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by ... Congenital malformation ATP2C1 [HSA:27032] [KO:K01537]
41 to 80 of 263 Prev 1 2 3 4 5 6 7 Next
[ KEGG | DISEASE | DRUG | MEDICUS ]