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Epidermolytic palmoplantar keratoderma
1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Bladder exstrophy
1 OMIM reference -
1 associated gene
14 signs/symptoms
Epidermolytic palmoplantar keratoderma
Bladder exstrophy

KRT1
(UniProt - OMIM)
 TP63
(UniProt - OMIM)
KRT16
(UniProt - OMIM)
KRT6C
(UniProt - OMIM)
KRT9
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KRT6C
(0.72)
TP63


Citations in the biomedical literature:


Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9
Bladder exstrophy
TP63



Epidermolytic palmoplantar keratoderma
Bladder exstrophy

Synonym(s):
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- EPPK
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner
Synonym(s):
- Classic exstrophy of the bladder
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D001746
Epidermolytic palmoplantar keratoderma
Bladder exstrophy

Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Warts / papillomas

Frequent
- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating



Very frequent
- Anus / rectum anomalies
- Bladder / cloacal exstrophy
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Umbilical hernia
- Vesicorenal / vesicoureteral reflux

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Recurrent urinary infections
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis

Occasional
- Encopresis / fecal incontinence
- Intestinal / gut / bowel malrotation
- Omphalocele / exomphalos
- Short bowel