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EEC syndrome
2 OMIM references -
1 associated gene
50 signs/symptoms
PROTEIN INTERACTIONS: 1
Desmoplastic small round cell tumor
2 associated genes
19 signs/symptoms
EEC syndrome
Desmoplastic small round cell tumor

TP63
(UniProt - OMIM)
 EWSR1
(UniProt - OMIM)
WT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP63
(0.55)
WT1


Citations in the biomedical literature:


EEC syndrome
TP63
Desmoplastic small round cell tumor
EWSR1 WT1



EEC syndrome
Desmoplastic small round cell tumor

Synonym(s):
- Ectrodactyly - ectodermal dysplasia - cleft lip/palate
Synonym(s):
- DSRCT
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 abdominal surgical 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: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: sporadic
External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D058405
EEC syndrome
Desmoplastic small round cell tumor

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


Very frequent
- Acute abdominal pain / colic
- Digestive neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Peritoneal diseases
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Frequent
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intestinal obstruction / ileus
- Mediastinal / hilar adenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Anaemia
- Ascitis
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Testis anomalies
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy