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3 OMIM references -
3 associated genes
64 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
4 associated genes
28 signs/symptoms
Treacher-Collins syndrome
Hoyeraal-Hreidarsson syndrome

POLR1C DKC1
POLR1D RTEL1
TCOF1 TERT
TINF2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POLR1C
(0.49)
DKC1



Citations in the biomedical literature:


Treacher-Collins syndrome
POLR1C POLR1D TCOF1
Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2



Treacher-Collins syndrome
Hoyeraal-Hreidarsson syndrome

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

Synonym(s):
- Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia

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 developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536068


COMMON
SIGNS
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability


Treacher-Collins syndrome
Hoyeraal-Hreidarsson syndrome

Very frequent
- Autosomal dominant inheritance
- 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
- 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
- Enamel anomaly
- Encephalocele / exencephaly
- Enchondroses
- Facial cleft
- 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
- 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
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Microcephaly
- Purpura / petichiae
- Short stature / dwarfism / nanism
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance

Frequent
- Anaemia
- Clotting / hemostasis disorders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Dilated cerebral ventricles without hydrocephaly
- Enanthema / aphtosa / aphta / leukoplakia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Rippled skin

Occasional
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Bone marrow failure / pancytopenia
- Intracranial / cerebral calcifications
- Neoplasms / tumors
- White cell disorders