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CEDNIK syndrome
1 OMIM reference -
1 associated gene
34 signs/symptoms
PROTEIN INTERACTIONS: 1
Herpetic encephalitis
4 OMIM references -
5 associated genes
No signs/symptoms info
CEDNIK syndrome
Herpetic encephalitis

SNAP29
(UniProt - OMIM)
 TBK1
(UniProt - OMIM)
TICAM1
(UniProt - OMIM)
TLR3
(UniProt - OMIM)
TRAF3
(UniProt - OMIM)
UNC93B1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SNAP29
(0.63)
TRAF3


Citations in the biomedical literature:


CEDNIK syndrome
SNAP29
Herpetic encephalitis
TBK1 TICAM1 TLR3 TRAF3 UNC93B1



CEDNIK syndrome
Herpetic encephalitis

Synonym(s):
- Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Synonym(s):
- HSV encephalitis
- Herpes simplex encephalitis
- Herpes simplex neuroinvasion
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare infectious disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
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: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
CEDNIK syndrome

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High nasal bridge
- Hypertelorism
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Microcephaly
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Abnormal eye movements / oculomotor disorder
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Areflexia / hyporeflexia
- Corpus callosum / septum pellucidum total / partial agenesis
- Nerve conduction abnormality
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anomalies of eyes and vision
- Cardiomyopathy / hypertrophic / dilated
- Dolichocephaly / scaphocephaly
- Flattened nose
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Heart / cardiac failure
- Late puberty / hypogonadism / hypogenitalism
- Long / large ear
- Nephrotic syndrome
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Proteinuria
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Transient cerebral ischemia / stroke


Herpetic encephalitis

(no data available)