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3 OMIM references -
3 associated genes
64 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
10 OMIM references -
7 associated genes
33 signs/symptoms
Treacher-Collins syndrome
Chronic mucocutaneous candidiasis

POLR1C CARD9
POLR1D CLEC7A
TCOF1 ICAM1
IL17F
IL17RA
STAT1
TRAF3IP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCOF1
(0.63)
ICAM1



Citations in the biomedical literature:


Treacher-Collins syndrome
POLR1C POLR1D TCOF1
Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2



Treacher-Collins syndrome
Chronic mucocutaneous candidiasis

Synonym(s):
- Franceschetti-Klein syndrome
- Mandibulofacial dysostosis without limb anomalies

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Certain infectious and parasitic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
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: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
10 OMIM references -
1 MeSH reference: D002178


COMMON
SIGNS
- Autosomal dominant inheritance
- Enamel anomaly


Treacher-Collins syndrome
Chronic mucocutaneous candidiasis

Very frequent
- Bone / osseous hypoplasia
- Dental malocclusion
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Facial dysmorphism
- Flat cheek bones / malar hypoplasia
- Hypoplastic mandibula / partial absence of the mandibula
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Small face
- Structural anomalies of middle ear / ossicles / tympanic cavity

Frequent
- Absent / decreased lashes
- Anodontia / oligodontia / hypodontia
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Broad nasal root
- Coloboma of the eyelid
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis
- Frontal bossing / prominent forehead
- Low hair line-front
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Strabismus / squint
- Visual loss / blindness / amblyopia

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Adrenal glands anomalies
- Anomalies of spine, vertebrae and pelvis
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Cataract / lens opacification
- Choanal atresia
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Encephalocele / exencephaly
- Enchondroses
- Facial cleft
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- Hair and scalp anomalies
- High vaulted / narrow palate
- Hypertelorism
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Limited opening of the mouth
- Macrostomia / big mouth
- Micropenis / small penis / agenesis
- Patent ductus arteriosus
- Preauricular / branchial tags / appendages
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thymic aplasia / hypoplasia
- Tooth shape anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nails anomalies
- Oral mucosa disease / cheilitis

Frequent
- Dyspareunia / coital pain / vaginal dryness
- Follicular / erythematous / edematous papules / milium
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Anomalies of eyes and vision
- Cough
- Endocardium anomalies / fibroelastosis / endocarditis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Hematuria / microhematuria
- Hemoptysis
- Hepatitis / icterus / cholestasis
- Motor deficit / trouble
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Pruritus / itching
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus