Cytoscape Web
Click node...


2 OMIM references -
1 associated gene
50 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
13 associated genes
No signs/symptoms info
EEC syndrome
Hereditary breast and ovarian cancer syndrome

TP63 BARD1
BRCA1
BRCA2
BRIP1
CHEK2
MRE11A
NBN
PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP63
(0.63)
BRCA1



Citations in the biomedical literature:


EEC syndrome
TP63
Hereditary breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 PTEN RAD50 RAD51 RAD51C
RAD51D



EEC syndrome
Hereditary breast and ovarian cancer syndrome

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

Synonym(s):
(no synonyms)

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 (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

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

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: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
4 OMIM references -
No MeSH references

EEC syndrome

Very frequent
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Autosomal dominant inheritance
- 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


Hereditary breast and ovarian cancer syndrome

(no data available)