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Usher syndrome type 3
3 OMIM references -
3 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Dubowitz syndrome
1 OMIM reference -
1 associated gene
79 signs/symptoms
Usher syndrome type 3
Dubowitz syndrome

CLRN1
(UniProt - OMIM)
 NSUN2
(UniProt - OMIM)
HARS
(UniProt - OMIM)
MT-TS2
(OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HARS
(0.63)
NSUN2


Citations in the biomedical literature:


Usher syndrome type 3
CLRN1 HARS MT-TS2
Dubowitz syndrome
NSUN2



Usher syndrome type 3
Dubowitz syndrome

Synonym(s):
- USH3
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535718
COMMON
SIGNS 		- Autosomal recessive inheritance
- Cataract / lens opacification

Usher syndrome type 3
Dubowitz syndrome

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
- Astigmatism
- Ataxia / incoordination / trouble of the equilibrium
- Hypermetropia

Occasional
- Delirium / hallucination
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Psychosis / schizophrenia / maniac disorder


Very frequent
- Broad / bifid thumb
- Flat supraorbital ridge
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Short stature / dwarfism / nanism
- Telecanthus / canthal dystopy
- Thumb hypoplasia / aplasia / absence

Frequent
- Antihelix anomaly
- Blepharophimosis / short palpebral fissures
- Clinodactyly of fifth finger
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Delayed bone age
- Depressed nasal bridge
- Eczema
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Hearing loss / hypoacusia / deafness
- Hyperactivity / attention deficit
- Hypospadias / epispadias / bent penis
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Large fontanelle / delayed fontanelle closure
- Lateral thinning of eyebrows
- Low hair line-front
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Prominent / bat ears
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sloping forehead
- Small foot
- Small hand / acromicria
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anaemia
- Anus / rectum anomalies
- Asthma / bronchospasm
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Cutis marmorata / marbled skin / livedo
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dry / squaly skin / exfoliation
- Hematologic / blood / lymphatic cancer
- High vaulted / narrow palate
- Hydrocephaly
- Hyperextensible joints / articular hyperlaxity
- Hypoparathyroidy
- Lymphoma
- Macrostomia / big mouth
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Metatarsus adductus
- Myopia
- Neoplasms / tumors
- Nystagmus
- Pectus excavatum
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sacral sinus / dimple
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Skin photosensitivity
- Spina bifida occulta
- Strabismus / squint
- Syndactyly of toes
- Talipes-varus / metatarsal varus
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Thrombocytopenia / thrombopenia