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EEC syndrome

2 OMIM references -
1 associated gene
50 signs/symptoms

PROTEIN INTERACTIONS: 1

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

3 OMIM references -
3 associated genes
No signs/symptoms info

EEC syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

TP63	(UniProt - OMIM)	HNRNPA1	(UniProt - OMIM)
		HNRNPA2B1	(UniProt - OMIM)
		VCP	(UniProt - OMIM)


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

Citations in the biomedical literature:

EEC syndrome		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
	Synonym(s): - Ectrodactyly - ectodermal dysplasia - cleft lip/palate		Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome

	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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 3 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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)