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Congenital atransferrinemia
1 OMIM reference -
1 associated gene
45 connected diseases
8 signs/symptoms
Disease Type of connection
Fibronectin glomerulopathy
Hemochromatosis type 3
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Essential thrombocythemia
Hemihypertrophy
Myelofibrosis with myeloid metaplasia
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Estrogen resistance syndrome
Amyotrophic lateral sclerosis type 4
Aneurysm - osteoarthritis syndrome
Apolipoprotein A-I deficiency
Autosomal dominant centronuclear myopathy
B-cell chronic lymphocytic leukemia
Benign Samaritan congenital myopathy
Central core disease
Cherubism
Congenital analbuminemia
Congenital fibrosis of extraocular muscles
Congenital multicore myopathy with external ophthalmoplegia
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Familial amyloid polyneuropathy
Familial melanoma
Familial renal amyloidosis due to Apolipoprotein AI variant
Familial thoracic aortic aneurysm and aortic dissection
Fanconi anemia
Hereditary combined deficiency of vitamin K-dependent clotting factors
King-Denborough syndrome
Large congenital melanocytic nevus
Malignant hyperthermia
Moderate multiminicore disease with hand involvement
Occipital pachygyria and polymicrogyria
Oculocutaneous albinism type 2
Primary systemic amyloidosis
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Spinocerebellar ataxia with axonal neuropathy type 2
Transthyretin-related familial amyloid cardiomyopathy
Gräsbeck-Imerslund disease
Porphyria cutanea tarda
Porphyria variegata
Hypomyelination with atrophy of basal ganglia and cerebellum
Oculocutaneous albinism type 3
Primary dystonia, DYT4 type
Synonym(s):
- Congenital hypotransferrinemia
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538259
Gene symbol UniProt reference OMIM reference
TF P02787190000
Very frequent
- Anaemia
- Autosomal recessive inheritance

Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Storage liver disease

Occasional
- Arthritis / synovitis / synovial proliferation
- Hypothyroidy
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the pancreas