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Congenital erythropoietic porphyria
1 OMIM reference -
2 associated genes
36 connected diseases
14 signs/symptoms
Disease Type of connection
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Coffin-Siris syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Precursor T-cell acute lymphoblastic leukemia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Isolated delta-storage pool disease
Paris-Trousseau thrombocytopenia
Peripheral primitive neuroectodermal tumor
Congenital diaphragmatic hernia
Tetralogy of Fallot
Acute promyelocytic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
2q37 microdeletion syndrome
Atypical teratoid tumor
Neurofibromatosis type 3
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Recurrent infection due to specific granule deficiency
17p11.2 microduplication syndrome
1p36 deletion syndrome
Pancytopenia due to IKZF1 mutations
Precursor B-cell acute lymphoblastic leukemia
Shprintzen-Goldberg syndrome
Smith-Magenis syndrome
Primary biliary cirrhosis
Autosomal dominant hyper-IgE syndrome
Cowden syndrome
Proteus syndrome
Distal 22q11.2 microdeletion syndrome
Synonym(s):
- CEP
- Günther disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GATA1 P15976305371
UROS P10746606938
Very frequent
- Abnormal colour of the urine / cholic / dark urines
- Auto-aggressivity / auto-mutilation
- Autosomal recessive inheritance
- Dental staining anomaly / spotted teeth / erythrodontia
- Hemolytic anemia
- Hirsutism / hypertrichosis / Increased body hair
- Porphyrins metabolism anomalies / porphyria
- Skin photosensitivity
- Splenomegaly
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Thrombocytopenia / thrombopenia