Phenotype: Parakeratosis (HP:0001036)
Associated genes and diseases:
gene_symbol: CYP4F22
disease_id: OMIM:604777
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
gene_symbol: LORICRIN
disease_id: OMIM:604117
disease_name: VOHWINKEL SYNDROME, VARIANT FORM
gene_symbol: LORICRIN
disease_id: ORPHA:79395
disease_name: Keratoderma hereditarium mutilans with ichthyosis
Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
gene_symbol: CLDN1
disease_id: OMIM:607626
disease_name: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
gene_symbol: TGM1
disease_id: OMIM:242300
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
gene_symbol: TGM1
disease_id: ORPHA:100976
disease_name: Bathing suit ichthyosis
BSI
gene_symbol: FLG2
disease_id: OMIM:618084
disease_name: PEELING SKIN SYNDROME 6
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: NIPAL4
disease_id: OMIM:612281
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
gene_symbol: KRT5
disease_id: ORPHA:158681
disease_name: Epidermolysis bullosa simplex with circinate migratory erythema
EBS with circinate migratory erythema
EBS-migr
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: RHBDF2
disease_id: OMIM:148500
disease_name: TYLOSIS WITH ESOPHAGEAL CANCER
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: KLK11
disease_id: OMIM:620507
disease_name: ICHTHYOSIS WITH ERYTHROKERATODERMA
gene_symbol: CARD14
disease_id: OMIM:173200
disease_name: PITYRIASIS RUBRA PILARIS
gene_symbol: CARD14
disease_id: OMIM:602723
disease_name: PSORIASIS 2
gene_symbol: IL36RN
disease_id: OMIM:614204
disease_name: PSORIASIS 14, PUSTULAR
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: POMP
disease_id: OMIM:601952
disease_name: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
gene_symbol: TRPM4
disease_id: OMIM:618531
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: MVK
disease_id: OMIM:175900
disease_name: POROKERATOSIS 3, MULTIPLE TYPES
gene_symbol: PMVK
disease_id: OMIM:175800
disease_name: POROKERATOSIS 1, MULTIPLE TYPES
gene_symbol: NLRP1
disease_id: OMIM:615225
disease_name: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
gene_symbol: MBTPS2
disease_id: OMIM:300918
disease_name: OLMSTED SYNDROME, X-LINKED
gene_symbol: SPINK5
disease_id: OMIM:256500
disease_name: NETHERTON SYNDROME
gene_symbol: ATP2A2
disease_id: ORPHA:79151
disease_name: Acrokeratosis verruciformis of Hopf
AKV of Hopf
gene_symbol: DSP
disease_id: OMIM:615821
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
gene_symbol: PERP
disease_id: OMIM:619208
disease_name: OLMSTED SYNDROME 2
gene_symbol: GLS
disease_id: OMIM:618339
disease_name: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: MVD
disease_id: OMIM:614714
disease_name: POROKERATOSIS 7, MULTIPLE TYPES
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: KRT13
disease_id: OMIM:615785
disease_name: WHITE SPONGE NEVUS 2
gene_symbol: KRT10
disease_id: OMIM:607602
disease_name: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS