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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
10 associated genes
35 signs/symptoms
Infant acute respiratory distress syndrome
Joubert syndrome

SFTPB ARL13B
SFTPC C5ORF42
CEP41
CSPP1
INPP5E
KIF7
TCTN1
TMEM231
TMEM237
TMEM67


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SFTPC
(0.63)
TMEM67



Citations in the biomedical literature:


Infant acute respiratory distress syndrome
SFTPB SFTPC
Joubert syndrome
ARL13B C5ORF42 CEP41 CSPP1 INPP5E KIF7
TCTN1 TMEM231 TMEM237 TMEM67



Infant acute respiratory distress syndrome
Joubert syndrome

Synonym(s):
- Hyaline membrane disease
- Infant ARDS
- Infant respiratory distress syndrome
- Neonatal respiratory distress syndrome

Synonym(s):
- CPD IV
- Cerebelloparenchymal disorder IV
- Classic Joubert syndrome
- Joubert syndrome type A
- Joubert-Boltshauser syndrome
- Pure Joubert syndrome

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

Classification (ICD10):
- Certain conditions originating in the perinatal period -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
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:
9 OMIM references -
No MeSH references

Joubert syndrome

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
- Respiratory rhythm disorder

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

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of spine, vertebrae and pelvis
- Anteverted nares / nostrils
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Low set ears / posteriorly rotated ears
- Polydactyly of toes
- Ptosis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Tremor
- Upper limb polydactyly / hexadactyly


Infant acute respiratory distress syndrome

(no data available)