Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated genes and diseases:
gene_symbol: DSG4
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: DSG4
disease_id: OMIM:607903
disease_name: HYPOTRICHOSIS 6
gene_symbol: KRT86
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT83
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT81
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: PKP1
disease_id: ORPHA:158668
disease_name: Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: FKBP14
disease_id: ORPHA:300179
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
FKBP14-related EDS
FKBP22-deficient EDS
Kyphoscoliotic EDS due to FKBP22 deficiency
kEDS-FKBP14
gene_symbol: FKBP14
disease_id: OMIM:614557
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
gene_symbol: RHBDF2
disease_id: OMIM:148500
disease_name: TYLOSIS WITH ESOPHAGEAL CANCER
gene_symbol: TARS1
disease_id: OMIM:618546
disease_name: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE
gene_symbol: KRT16
disease_id: OMIM:167200
disease_name: PACHYONYCHIA CONGENITA 1
gene_symbol: KRT16
disease_id: OMIM:613000
disease_name: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
gene_symbol: KRT16
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6A
disease_id: OMIM:167200
disease_name: PACHYONYCHIA CONGENITA 1
gene_symbol: KRT6A
disease_id: OMIM:615726
disease_name: PACHYONYCHIA CONGENITA 3
gene_symbol: KRT6A
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: PSENEN
disease_id: OMIM:613736
disease_name: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE
gene_symbol: LRP1
disease_id: ORPHA:79100
disease_name: Atrophoderma vermiculata
Folliculitis ulerythematosa reticulate
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
gene_symbol: SLC27A4
disease_id: OMIM:608649
disease_name: ICHTHYOSIS PREMATURITY SYNDROME
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: MBTPS2
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: TRIP4
disease_id: OMIM:617066
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
gene_symbol: TRIP4
disease_id: ORPHA:486815
disease_name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular dystrophy, Davignon-Chauveau type
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: DDR2
disease_id: OMIM:618175
disease_name: WARBURG-CINOTTI SYNDROME
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: NLRP1
disease_id: OMIM:615225
disease_name: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
gene_symbol: DSC3
disease_id: OMIM:613102
disease_name: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
gene_symbol: POFUT1
disease_id: OMIM:615327
disease_name: DOWLING-DEGOS DISEASE 2
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: KRT17
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6B
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC