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Treacher-Collins syndrome
3 OMIM references -
3 associated genes
64 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Waldenström macroglobulinemia
2 OMIM references -
1 associated gene
44 signs/symptoms
Treacher-Collins syndrome
Waldenström macroglobulinemia

POLR1C
(UniProt - OMIM)
 MYD88
(UniProt - OMIM)
POLR1D
(UniProt - OMIM)
TCOF1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
POLR1C
(0.65)
MYD88


Citations in the biomedical literature:


Treacher-Collins syndrome
POLR1C POLR1D TCOF1
Waldenström macroglobulinemia
MYD88



Treacher-Collins syndrome
Waldenström macroglobulinemia

Synonym(s):
- Franceschetti-Klein syndrome
- Mandibulofacial dysostosis without limb anomalies
Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma
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 hematologic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
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: adulthood
Average age of death: elderly
Type of inheritance: multigenic/multifactorial
External references:
3 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008258
COMMON
SIGNS 		- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Treacher-Collins syndrome
Waldenström macroglobulinemia

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
- 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
- Enamel anomaly
- 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
- 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
- Bone marrow / medullar infiltration
- Hematologic / blood / lymphatic cancer
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Myeloproliferative syndrome / chronic leukemia

Frequent
- Blood hyperviscosity / hypercoagulability
- Dizziness
- Gingivorrhagia / gingival bleeding
- Normocytic anemia
- Pallor
- Polynuclear cells / neutrophils anomalies / neutropenia

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Anorexia
- Asthenia / fatigue / weakness
- Ataxia / incoordination / trouble of the equilibrium
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cranial nerves palsy
- Cryoglobulinemia
- Cutis marmorata / marbled skin / livedo
- Edema of the legs / lower limbs
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hearing loss / hypoacusia / deafness
- Heart / cardiac failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung / pulmonary infiltrates
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Palpebral edema / periorbital edema
- Peripheral neuropathy
- Proptosis / exophthalmos
- Purpura / petichiae
- Renal failure
- Retinal vascular anomalies / retinal telangiectasia
- Splenomegaly
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Urticaria
- Vascularitis / vasculitides / arteritis