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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
1 associated gene
50 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
EEC syndrome

KRT14 TP63
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.72)
TP63



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
EEC syndrome
TP63



Epidermolysis bullosa simplex with mottled pigmentation
EEC syndrome

Synonym(s):
- EBS-MP

Synonym(s):
- Ectrodactyly - ectodermal dysplasia - cleft lip/palate

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Epidermolysis bullosa simplex with mottled pigmentation
EEC syndrome

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails
- Bruisability
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



Very frequent
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Coarse / thick hair
- Complete / partial microdontia
- Defect / anomaly of lacrimal system
- Dry / squaly skin / exfoliation
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Multiple caries
- Oligodactyly / ectrodactyly of fingers
- Oligodactyly / ectrodactyly of toes
- Taurodontia
- Thick / bushy eyebrows

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cleft lip and palate
- Corneal ulceration / perforation
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Photophobia
- Skin hypoplasia / aplasia / atrophy
- slow growth of the hair
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis

Occasional
- Breast tissue / mammary gland absence / aplasia
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Fine hair
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphoma
- Mouth dryness / xerostomia
- Proximally set thumb
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thumb hypoplasia / aplasia / absence
- Thymic aplasia / hypoplasia
- Vesicorenal / vesicoureteral reflux