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Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
Congenital erythropoietic porphyria
1 OMIM reference -
2 associated genes
14 signs/symptoms
Atypical teratoid tumor
Congenital erythropoietic porphyria

SMARCB1
(UniProt - OMIM)
 GATA1
(UniProt - OMIM)
UROS
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMARCB1
(0.75)
GATA1


Citations in the biomedical literature:


Atypical teratoid tumor
SMARCB1
Congenital erythropoietic porphyria
GATA1 UROS



Atypical teratoid tumor
Congenital erythropoietic porphyria

Synonym(s):
(no synonyms)

Synonym(s):
- CEP
- Günther disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
(no data available)
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
Atypical teratoid tumor
Congenital erythropoietic porphyria

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders

Occasional
- Acute palsy
- Cranial nerves palsy
- Intracranial / cerebral calcifications


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