Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
14 signs/symptoms
Hyper-IgM syndrome type 2
Kearns-Sayre syndrome

AICDA MT-ATP8
MT-TL1
RRM2B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AICDA
(0.63)
RRM2B



Citations in the biomedical literature:


Hyper-IgM syndrome type 2
AICDA
Kearns-Sayre syndrome
MT-ATP8 MT-TL1 RRM2B



Hyper-IgM syndrome type 2
Kearns-Sayre syndrome

Synonym(s):
- AID deficiency
- Activation-induced cytidine deaminase deficiency
- HIGM2

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: mitochondrial inheritance

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D007625

Kearns-Sayre syndrome

Very frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Hearing loss / hypoacusia / deafness
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypotonia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Short stature / dwarfism / nanism

Occasional
- Delayed bone age
- Hemiplegia / diplegia / hemiparesia / limb palsy


Hyper-IgM syndrome type 2

(no data available)