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Entry Name Description Category Pathway Gene
H00274 Papillon-Lefevre syndrome ... cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its substrates. The disease is characterized by palmoplantar keratoderma and juvenile periodontitis. Inherited metabolic disorder, Lysosomal disease CTSC [HSA:1075] [KO:K01275]
H00425 Lysosomal cysteine protease deficiencies ... lysosomal cysteine proteases. Deficiency of cathepsin C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency of cathepsin K leads to ... Inherited metabolic disorder, Lysosomal disease (PLS) CTSC [HSA:1075] [KO:K01275]
(Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]
H00644 Ectodermal dysplasia/skin fragility syndrome ... fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This condition is caused by mutations in PKP1, a desmosomal ... Congenital malformation PKP1 [HSA:5317] [KO:K10387]
H00646 Odontoonychodermal dysplasia Odontoonychodermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles. Congenital malformation WNT10A [HSA:80326] [KO:K01357]
H00648 Ectodermal dysplasia, Clouston type
Clouston syndrome 		... dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease ... Congenital malformation GJB6 [HSA:10804] [KO:K07625]
H00669 Naxos disease Naxos disease (NXD) is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy ... Congenital malformation JUP [HSA:3728] [KO:K10056]
H00684 Pachyonychia congenita ... hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis ... 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]
H00695 Mal de Meleda
Meleda disease 		Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal ... Congenital malformation SLURP1 [HSA:57152] [KO:K23681]
H00696 Haim-Munk syndrome
Keratosis palmoplantaris periodontopathia onychogryposis 		Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly ... Congenital malformation CTSC [HSA:1075] [KO:K01275]
H00706 Bart-Pumphrey syndrome Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding ... Congenital malformation GJB2 [HSA:2706] [KO:K07621]
H00707 Ichthyosis hystrix, Curth-Macklin type ... type is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear ... 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]
H00710 Erythrokeratodermia variabilis ... hyperkeratosis. Lesions usually appear within the first year of life but may arise later in childhood. Diffuse palmoplantar keratoderma is common. Erythrokeratodermia variabilis et progressiva (EKVP) is caused by ... Congenital malformation (EKVP1) GJB3 [HSA:2707] [KO:K07622]
(EKVP2) GJB4 [HSA:127534] [KO:K07623]
(EKVP3) GJA1 [HSA:2697] [KO:K07372]
(EKVP4) KDSR [HSA:2531] [KO:K04708]
(EKVP5) KRT83 [HSA:3889] [KO:K07605]
(EKVP6) TRPM4 [HSA:54795] [KO:K04979]
(EKVP7) PERP [HSA:64065] [KO:K10136]
H00712 KID/HID syndrome ... skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearing impairment is often congenital. Corneal epithelium ... Congenital malformation (KIDAD/HID) GJB2 [HSA:2706] [KO:K07621]
(KIDAR) AP1B1 [HSA:162] [KO:K12392]
H00714 Vohwinkel syndrome Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading ... Congenital malformation GJB2 [HSA:2706] [KO:K07621]
(variant form) LORICRIN [HSA:4014] [KO:K10385]
H00716 Palmoplantar keratoderma with deafness Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel ... Congenital malformation GJB2 [HSA:2706] [KO:K07621]
H00717 Striate palmoplantar keratoderma Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis ... Congenital malformation (PPKS1) DSG1 [HSA:1828] [KO:K07596]
(PPKS2) DSP [HSA:1832] [KO:K10381]
(PPKS3) KRT1 [HSA:3848] [KO:K07605]
H00722 Epidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow ... 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]
H00737 Peeling skin syndrome ... layers. PSS can be divided into two main types, acral PSS (APSS) and generalized PSS. APSS involves the palmar, plantar and dorsal surfaces of hands and feet. Generalized PSS can be further divided into the ... 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 		... 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 on red skin. Congenital malformation KRT10 [HSA:3858] [KO:K07604]
H00781 Schopf-Schulz-Passarge syndrome
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis 		... dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease. Congenital malformation WNT10A [HSA:80326] [KO:K01357]
H00790 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
KLICK syndrome 		... and sclerosing keratoderma (KLICK) syndrome is a rare combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre linear hyperkeratotic papules on the flexural ... Congenital malformation POMP [HSA:51371] [KO:K11599]
H00796 Dermatopathia pigmentosa reticularis ... of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the disease are palmoplantar keratoderma and hypohidrosis. Congenital malformation KRT14 [HSA:3861] [KO:K07604]
H00799 CEDNIK syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 		... the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the SNARE family ... Congenital malformation SNAP29 [HSA:9342] [KO:K08509]
H01298 Pulmonary alveolar microlithiasis Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases ... Respiratory system disease SLC34A2 [HSA:10568] [KO:K14683]
H01404 Punctate palmoplantar keratoderma Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified ... Congenital malformation (PPKP1A) AAGAB [HSA:79719] [KO:K23878]
(PPKP1B) COL14A1 [HSA:7373] [KO:K08133]
H01474 Acquired generalized lipodystrophy
Lawrence syndrome 		... of subcutaneous fat occurs highly variable, exclusively at the face and extremities including legs, palms and some soles. In rare cases, intraabdomianl fat and bone marrow fat may also be spared. Similarly ... Inherited metabolic disorder
H01659 Pityriasis rubra pilaris ... adult subtype, tends to be more chronic and presents with areas of alopecia, eczematous patches, and a palmoplantar keratoderma. The classic juvenile type III is observed in only 10% of patients. It is similar ... Immune system disease; Skin disease CARD14 [HSA:79092] [KO:K20913]
H01663 Pustular psoriasis ... spectrum of GPP include: impetigo herpetiformis and childhood GPP. Acrodermatitis continua of Hallopeau and palmoplantar pustulosis are two distinct forms of localized pustular psoriasis. Treatment should be governed ... Immune system disease; Skin disease
H01673 Palmoplantar keratoderma Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and hereditary forms exist ... Congenital malformation
H01718 Kawasaki disease
Mucocutaneous lymph node syndrome 		... erythematous lips and strawberry tongue, cervical lymphadenopathy, extremity changes such as erythema or palm and sole desquamation, and polymorphous rash. Incomplete (atypical) Kawasaki disease occurs in persons ... Immune system disease
H01747 Costello syndrome ... a rare multiple congenital abnormality syndrome. Patients present with the typical coarse face, deep palmar and plantar creases, redundant and loose skin, severe failure to thrive, congenital heart defect ... Congenital malformation HRAS [HSA:3265] [KO:K02833]
H01933 Porokeratosis ... superficial porokeratosis (DSP), disseminated superficial actinic porokeratosis (DSAP), punctate porokeratosis (PP), porokeratosis palmaris et plantaris disseminata (PPPD), and linear porokeratosis (LP). Congenital malformation (POROK1) PMVK [HSA:10654] [KO:K13273]
(POROK3) MVK [HSA:4598] [KO:K00869]
(POROK7) MVD [HSA:4597] [KO:K01597]
(POROK8) SLC17A9 [HSA:63910] [KO:K12303]
(POROK9) FDPS [HSA:2224] [KO:K00787]
H01981 Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria ... Inherited metabolic disorder, Mitochondrial disease CPT1A [HSA:1374] [KO:K08765]
H01982 Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined ... Inherited metabolic disorder, Mitochondrial disease CPT2 [HSA:1376] [KO:K08766]
H02094 Carvajal syndrome
Dilated cardiomyopathy with woolly hair and keratoderma 		... autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair, and palmoplantar keratoma. Carvajal syndrome is considered as a variant of Naxos disease. It is caused by ... Congenital malformation DSP [HSA:1832] [KO:K10381]
H02193 Intrahepatic cholestasis of pregnancy
Obstetric cholestasis 		... pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes the palms and soles, and biochemical evidence of elevated bile acids, with or without elevated liver function ... Digestive system disease (ICP1) ATP8B1 [HSA:5205] [KO:K01530]
(ICP3) ABCB4 [HSA:5244] [KO:K05659]
H02263 Focal nonepidermolytic palmoplantar keratoderma Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful ... Congenital malformation (FNEPPK1) KRT16 [HSA:3868] [KO:K07604]
(FNEPPK2) TRPV3 [HSA:162514] [KO:K04972]
H02264 Palmoplantar keratoderma, Nagashima type Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces ... Congenital malformation SERPINB7 [HSA:8710] [KO:K13964]
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