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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
20 associated genes
No signs/symptoms info
Autosomal dominant optic atrophy plus syndrome
Precursor T-cell acute lymphoblastic leukemia

MFN2 ABL1
OPA1 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)
OPA1
(0.86)
MYC



Citations in the biomedical literature:


Autosomal dominant optic atrophy plus syndrome
MFN2 OPA1
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



Autosomal dominant optic atrophy plus syndrome
Precursor T-cell acute lymphoblastic leukemia

Synonym(s):
- DOA+
- Optic atrophy - deafness- polyneuropathy - myopathy

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 eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Autosomal dominant optic atrophy plus syndrome

Very frequent
- Autosomal dominant inheritance
- Insensitivity to pain
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensorineural deafness / hearing loss

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Areflexia / hyporeflexia
- Mild visual loss / impaired visual acuity

Occasional
- Abnormal VEP / Visual evoked potential
- Nerve conduction abnormality
- Strabismus / squint


Precursor T-cell acute lymphoblastic leukemia

(no data available)