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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
20 associated genes
No signs/symptoms info
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Precursor B-cell acute lymphoblastic leukemia

AGK ABL1
SLC25A4 AFF1
AUTS2
BCR
CDKN2A
ETV6
FLT3
FOXP1
GATA3
HLF
IGH
IKZF1
KMT2A
PAX5
PBX1
PDGFRA
PIP4K2A
RUNX1
TCF3
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC25A4
(0.63)
TCF3



Citations in the biomedical literature:


Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
AGK SLC25A4
Precursor B-cell acute lymphoblastic leukemia
ABL1 AFF1 AUTS2 BCR CDKN2A ETV6
FLT3 FOXP1 GATA3 HLF IGH IKZF1
KMT2A PAX5 PBX1 PDGFRA PIP4K2A RUNX1
TCF3 TP53



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

Synonym(s):
- Sengers syndrome

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

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:
1 OMIM reference -
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 B-cell acute lymphoblastic leukemia

(no data available)