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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Congenital erythropoietic porphyria

CREBBP GATA1
UROS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.82)
GATA1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Congenital erythropoietic porphyria
GATA1 UROS



Rubinstein-Taybi syndrome due to CREBBP mutations
Congenital erythropoietic porphyria

Synonym(s):
(no synonyms)

Synonym(s):
- CEP
- G√ľnther disease

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
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
External references:
1 OMIM reference -
No MeSH references

Congenital erythropoietic porphyria

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


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)