Cytoscape Web
Click node...


2 OMIM references -
1 associated gene
50 signs/symptoms
PROTEIN INTERACTIONS: 4
20 associated genes
No signs/symptoms info
EEC syndrome
Precursor T-cell acute lymphoblastic leukemia

TP63 ABL1
BCR
CDKN2A
CNOT3
DDX3X
FLT3
HNRNPH1
MLLT10
MYB
MYC
PICALM
STIL
TAL1
TCL1A
TLX1
TLX3
TRA
()
TRB
TRD
TRG
()


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP63
TP63
TP63
TP63
(0.68)
(0.63)
(0.63)
(0.63)
CDKN2A
TRA
TRD
TRG



Citations in the biomedical literature:


EEC syndrome
TP63
Precursor T-cell acute lymphoblastic leukemia
ABL1 BCR CDKN2A CNOT3 DDX3X FLT3
HNRNPH1 MLLT10 MYB MYC PICALM STIL
TAL1 TCL1A TLX1 TLX3 TRA TRB
TRD TRG



EEC syndrome
Precursor T-cell acute lymphoblastic leukemia

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

Synonym(s):
- Precursor T-cell acute lymphoblastic leukemia/lymphoma
- Precursor T-cell acute lymphocytic leukemia
- Precursor T-cell acute lymphocytic leukemia/lymphoma
- T-ALL

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 hematologic 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:
(no data available)

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


Precursor T-cell acute lymphoblastic leukemia

(no data available)