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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
34 signs/symptoms
Semantic dementia
Joubert syndrome with renal defect

C9ORF72 ATXN10
CHMP2B NPHP1
GRN RPGRIP1L
MAPT TCTN2
PSEN1 TMEM237
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
ATXN10



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Joubert syndrome with renal defect
ATXN10 NPHP1 RPGRIP1L TCTN2 TMEM237



Semantic dementia
Joubert syndrome with renal defect

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- JS-R

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Joubert syndrome with renal defect

Very frequent
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oculomotor apraxia / dyspraxia
- Renal disease / nephropathy
- Respiratory rhythm disorder

Frequent
- Abnormal gait
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Long face
- Low set ears / posteriorly rotated ears
- Narrow forehead
- Nystagmus

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anteverted nares / nostrils
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Ptosis
- Renal failure
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Tremor
- Upper limb polydactyly / hexadactyly


Semantic dementia

(no data available)