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Familial dysautonomia
1 OMIM reference -
1 associated gene
36 connected diseases
37 signs/symptoms
Disease Type of connection
Giant cell glioblastoma
Gliosarcoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Huntington disease
Juvenile Huntington disease
Familial amyloid polyneuropathy
Hereditary breast and ovarian cancer syndrome
Transthyretin-related familial amyloid cardiomyopathy
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant secondary polycythemia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial melanoma
Frontometaphyseal dysplasia
Hereditary pheochromocytoma-paraganglioma
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Isolated NADH-CoQ reductase deficiency
Multiple endocrine neoplasia type 1
Multiple paragangliomas associated with polycythemia
Normosmic congenital hypogonadotropic hypogonadism
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Pseudohypoaldosteronism type 2E
Severe combined immunodeficiency due to DNA-PKcs deficiency
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Terminal osseous dysplasia - pigmentary defects
Synonym(s):
- HSAN3
- Hereditary sensory and autonomic neuropathy type 3
- Riley-Day syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
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:
1 OMIM reference -
1 MeSH reference: D004402
Gene symbol UniProt reference OMIM reference
IKBKAP O95163603722
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