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1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
5 OMIM references -
4 associated genes
1 sign/symptom
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect

NKX2-5 NKX2-5
RPSA SCN1B
SCN5A
TRPM4


COMMON
GENES
NKX2-5



Citations in the biomedical literature:


Familial isolated congenital asplenia
NKX2-5 RPSA
Familial progressive cardiac conduction defect
SCN1B SCN5A TRPM4



Familial isolated congenital asplenia
Familial progressive cardiac conduction defect

Synonym(s):
(no synonyms)

Synonym(s):
- Familial Lenègre disease
- Familial Lev disease
- Familial Lev-Lenègre disease
- Familial PCCD
- Familial progressive heart block
- Hereditary bundle branch defect

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory 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: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

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

Familial progressive cardiac conduction defect

Frequent
- Cardiac rhythm disorder / arrhythmia



Familial isolated congenital asplenia

(no data available)