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Cenani-Lenz syndrome

1 OMIM reference -
1 associated gene
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Usher syndrome type 2

3 OMIM references -
4 associated genes
21 signs/symptoms

Cenani-Lenz syndrome

Usher syndrome type 2

LRP4	(UniProt - OMIM)		DFNB31	(UniProt - OMIM)
			GPR98	(UniProt - OMIM)
			PDZD7	(UniProt - OMIM)
			USH2A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LRP4	(0.63)	DFNB31

Citations in the biomedical literature:

Cenani-Lenz syndrome		Usher syndrome type 2
	Synonym(s): - Cenani syndactyly - Cenani-Lenz syndactyly - Syndactyly type 7		Synonym(s): - USH2

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease

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

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

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


COMMON SIGNS	- Autosomal recessive inheritance - Cataract / lens opacification - Enamel anomaly - Nystagmus

Cenani-Lenz syndrome		Usher syndrome type 2
	Very frequent - Absent / small fingernails / anonychia of hands - Carpal bones fusion / synostosis - Metacarpal anomalies / Archibald's sign - Oligodactyly / ectrodactyly of fingers - Syndactyly of fingers / interdigital palm - Synostosis Frequent - Absent / small toenails / anonychia of feet - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Frontal bossing / prominent forehead - Hypertelorism - Radioulnar synostosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Syndactyly of toes - Thumb hypoplasia / aplasia / absence - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Abnormal dermatoglyphics - Agenesis / hypoplasia / aplasia of kidneys - Anodontia / oligodontia / hypodontia - Beaked nose - Ectopic / horseshoe / fused kidneys - Ectropion / entropion / eyelid eversion - Elbow dislocation - Flat cheek bones / malar hypoplasia - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypothyroidy - Laryngomalacia - Micrognathia / retrognathia / micrognathism / retrognathism - Oligodactyly / ectrodactyly of toes - Prominent / bat ears - Proptosis / exophthalmos - Ptosis - Rib structure anomalies - Scoliosis - Short limbs / micromelia / brachymelia - Short philtrum - Short / small nose - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Abnormal ERG / electroretinogram / electroretinography - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Night blindness / hemeralopia - Retinitis pigmentosa / retinal pigmentary changes - Sensorineural deafness / hearing loss - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Visual loss / blindness / amblyopia Frequent - Myopia Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Complete / partial microdontia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Delirium / hallucination - Dental staining anomaly / spotted teeth / erythrodontia - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Multiple caries - Psychosis / schizophrenia / maniac disorder