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1 OMIM reference -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
20 signs/symptoms
Myelofibrosis with myeloid metaplasia
Spastic paraplegia type 2

CALR PLP1
JAK2
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CALR
(0.55)
PLP1



Citations in the biomedical literature:


Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2
Spastic paraplegia type 2
PLP1



Myelofibrosis with myeloid metaplasia
Spastic paraplegia type 2

Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis

Synonym(s):
- SPG2
- Spastic gait type 2
- Spastic paraparesis type 2
- X-linked spastic paraplegia type 2

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536857

Spastic paraplegia type 2

Very frequent
- Abnormal gait
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Muscle weakness / flaccidity
- X-linked dominant inheritance
- X-linked recessive inheritance

Frequent
- Bladder and ureter anomalies
- Encopresis / fecal incontinence
- Extrapyramidal syndrome
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Motor deficit / trouble
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Elocution disorders / dysarthria / dysphonia
- Nystagmus
- Pulmonary thromboembolism
- Repeat respiratory infections
- Restricted joint mobility / joint stiffness / ankylosis
- Sensitive trouble / deficit


Myelofibrosis with myeloid metaplasia

(no data available)