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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
37 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Familial dysautonomia

CACNG2 IKBKAP
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYNC1H1
(0.63)
IKBKAP



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Familial dysautonomia
IKBKAP



Autosomal dominant nonsyndromic intellectual deficit
Familial dysautonomia

Synonym(s):
(no synonyms)

Synonym(s):
- HSAN3
- Hereditary sensory and autonomic neuropathy type 3
- Riley-Day syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
13 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D004402

Familial dysautonomia

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Anomalies of eyelids, eyelashes and lacrimal system
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperhidrosis / increased sweating
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotension
- Insensitivity to pain
- Malignant hyperthermia
- Peripheral neuropathy
- Pupillary anomalies / mydriasis / myosis / tonic pupil

Frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Chronic arterial hypertension
- Corneal ulceration / perforation
- Hypotonia
- Psychic / behavioural troubles
- Repeat respiratory infections
- Scoliosis

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Cardiac rhythm disorder / arrhythmia
- Corneal clouding / opacity / vascularisation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Heterochromia / mixed colouring of iris
- Hyponatremia
- Mutiple fractures / bone fragility
- Myopia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteonecrosis / bone infarction
- Renal failure
- Renal glomerular defect / glomerulopathy
- Renal / kidney anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural anomaly of the peritoneum


Autosomal dominant nonsyndromic intellectual deficit

(no data available)