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Entry | Name | Description | Category | Pathway | Gene |
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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] | |
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] |
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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] | |
H00674 | Anemia due to disorders of nucleotide metabolism | Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiencies of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan. | Hematologic disease |
(AK) AK1 [HSA:203] [KO:K00939] (P5N) NT5C3A [HSA:51251] [KO:K24242] |
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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] |
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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] |
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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] |
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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] | |
H00699 | Central core disease | ... CCD is variable but usually mild and non-progressive; however, more severe forms including the fetal akinesia syndrome have also been reported associated with recessive or de novo dominant mutations. CCD ... | Nervous system disease; Musculoskeletal disease | RYR1 [HSA:6261] [KO:K04961] | |
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 | ... 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] |
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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] | |
H00717 | Striate palmoplantar keratoderma | ... fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1). | Congenital malformation |
(PPKS1) DSG1 [HSA:1828] [KO:K07596] (PPKS2) DSP [HSA:1832] [KO:K10381] (PPKS3) KRT1 [HSA:3848] [KO:K07605] |
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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] |
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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] |
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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] |
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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] |
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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] | |
H00752 | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft ... | Congenital malformation | TP63 [HSA:8626] [KO:K10149] | |
H00756 | Pitt-Hopkins syndrome | Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ... | Congenital malformation |
(PTHS) TCF4 [HSA:6925] [KO:K15603] (PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380] (PTHSL2) NRXN1 [HSA:9378] [KO:K07377] |
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H00757 | Dyggve-Melchior-Clausen disease | ... of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar ... | Congenital malformation | DYM [HSA:54808] [KO:K23951] | |
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] |
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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] |
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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] |
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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 | ... 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 LDS2 ... | 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] |
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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] |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |