Cytoscape Web
Click node...


4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
35 signs/symptoms
Herpetic encephalitis
Cerebro-facio-thoracic dysplasia

TBK1 TMCO1
TICAM1
TLR3
TRAF3
UNC93B1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UNC93B1
(0.63)
TMCO1



Citations in the biomedical literature:


Herpetic encephalitis
TBK1 TICAM1 TLR3 TRAF3 UNC93B1
Cerebro-facio-thoracic dysplasia
TMCO1



Herpetic encephalitis
Cerebro-facio-thoracic dysplasia

Synonym(s):
- HSV encephalitis
- Herpes simplex encephalitis
- Herpes simplex neuroinvasion

Synonym(s):
- Pascual-Castroviejo syndrome type 1

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare infectious disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Cerebro-facio-thoracic dysplasia

Very frequent
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Broad nose / nasal bridge
- Corpus callosum / septum pellucidum total / partial agenesis
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Macrostomia / big mouth
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Philtrum flat / large / featureless / absent cupidon bows
- Rib number anomalies
- Rib structure anomalies
- Short neck
- Thick / bushy eyebrows
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Abnormal implantation of hair
- Abnormal vertebral size / shape
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Coarse / thick hair
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Herniae
- Low hair line (back)
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Polyhydramnios
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Short stature / dwarfism / nanism
- Short / small nose
- Strabismus / squint
- Synophris / synophrys

Occasional
- Cleft lip and palate


Herpetic encephalitis

(no data available)