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Acatalasemia
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Trisomy Xq28
1 OMIM reference -
1 associated gene
15 signs/symptoms
Acatalasemia
Trisomy Xq28

CAT
(UniProt - OMIM)
 MECP2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CAT
(0.49)
MECP2


Citations in the biomedical literature:


Acatalasemia
CAT
Trisomy Xq28
MECP2



Acatalasemia
Trisomy Xq28

Synonym(s):
- Catalase deficiency
Synonym(s):
- Distal duplication Xq
- Telomeric duplication Xq
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Trisomy Xq28

Very frequent
- Blepharophimosis / short palpebral fissures
- Delayed bone age
- Epicanthic folds
- Everted lower lip
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Ptosis
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tented upper lip
- Total / partial trisomy / duplication
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal gait
- Inguinal / inguinoscrotal / crural hernia
- Pectus excavatum

Occasional
- Restricted joint mobility / joint stiffness / ankylosis


Acatalasemia

(no data available)