ODCs

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Fibronectin glomerulopathy

2 OMIM references -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Treacher-Collins syndrome

3 OMIM references -
3 associated genes
64 signs/symptoms

Fibronectin glomerulopathy

Treacher-Collins syndrome

FN1	(UniProt - OMIM)	POLR1C	(UniProt - OMIM)
		POLR1D	(UniProt - OMIM)
		TCOF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FN1	(0.72)	POLR1C

Citations in the biomedical literature:

Fibronectin glomerulopathy		Treacher-Collins syndrome
	Synonym(s): - GFND - Glomerulopathy with fibronectin deposits		Synonym(s): - Franceschetti-Klein syndrome - Mandibulofacial dysostosis without limb anomalies

	Classification (Orphanet): - Rare genetic disease - Rare renal disease		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 (ICD10): - Diseases of the genitourinary system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Fibronectin glomerulopathy		Treacher-Collins syndrome
	Very frequent - Chronic arterial hypertension - Edema of the legs / lower limbs - Functional anomalies of the kidney and the urinary tract - Hematuria / microhematuria - Nephrotic syndrome - Proteinuria - Renal failure - Renal glomerular defect / glomerulopathy Occasional - Intracranial / cerebral / meningeal hemorrhage		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 - 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 - 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