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Congenital dyserythropoietic anemia type II
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Fibronectin glomerulopathy
Nuclear cataract
Jeune syndrome
Meckel syndrome
Papillary or follicular thyroid carcinoma
Pseudohypoaldosteronism type 2E
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Transient familial neonatal hyperbilirubinemia
Synonym(s):
- CDA II
- CDA type 2
- CDA type II
- Congenital dyserythropoietic anemia type 2
- Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
- SEC23B-CDG
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SEC23B Q15437610512
No signs/symptoms info available.