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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 4
20 associated genes
No signs/symptoms info
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Precursor T-cell acute lymphoblastic leukemia

AGK ABL1
SLC25A4 BCR
CDKN2A
CNOT3
DDX3X
FLT3
HNRNPH1
MLLT10
MYB
MYC
PICALM
STIL
TAL1
TCL1A
TLX1
TLX3
TRA
()
TRB
TRD
TRG
()


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AGK
SLC25A4
SLC25A4
SLC25A4
(0.63)
(0.49)
(0.49)
(0.49)
MYC
TRA
TRD
TRG



Citations in the biomedical literature:


Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
AGK SLC25A4
Precursor T-cell acute lymphoblastic leukemia
ABL1 BCR CDKN2A CNOT3 DDX3X FLT3
HNRNPH1 MLLT10 MYB MYC PICALM STIL
TAL1 TCL1A TLX1 TLX3 TRA TRB
TRD TRG



Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Precursor T-cell acute lymphoblastic leukemia

Synonym(s):
- Sengers syndrome

Synonym(s):
- Precursor T-cell acute lymphoblastic leukemia/lymphoma
- Precursor T-cell acute lymphocytic leukemia
- Precursor T-cell acute lymphocytic leukemia/lymphoma
- T-ALL

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: C538280
External references:
No OMIM references
No MeSH references

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Myopathy
- Nystagmus
- Organic acid metabolism anomalies
- Strabismus / squint

Frequent
- Myopia
- Stillbirth / neonatal death

Occasional
- Abnormal ERG / electroretinogram / electroretinography
- Corneal dystrophy
- Glaucoma


Precursor T-cell acute lymphoblastic leukemia

(no data available)