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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
22 signs/symptoms
Autosomal dominant spastic paraplegia type 13
Osteopetrosis with renal tubular acidosis

HSPD1 CA2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.89)
CA2



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Osteopetrosis with renal tubular acidosis
CA2



Autosomal dominant spastic paraplegia type 13
Osteopetrosis with renal tubular acidosis

Synonym(s):
- SPG13

Synonym(s):
- Carbonic anhydrase 2 deficiency
- Guibaud-Vainsel syndrome
- Marble brain disease
- Mixed RTA
- Mixed renal tubular acidosis
- Renal tubular acidosis type 3

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
2 OMIM references -
1 MeSH reference: C536058

Osteopetrosis with renal tubular acidosis

Very frequent
- Anaemia
- Autosomal recessive inheritance
- Bone pain
- Epiphyseal anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Genu valgum
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mutiple fractures / bone fragility
- Osteonecrosis / bone infarction
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Osteosclerosis / osteopetrosis / bone condensation
- Renal tubular defect / tubulopathy
- Splenomegaly

Frequent
- Intracranial / cerebral calcifications
- Multiple caries
- Peripheral neuropathy
- Prognathism / prognathia
- Thrombocytopenia / thrombopenia
- Tooth shape anomaly

Occasional
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Visual loss / blindness / amblyopia


Autosomal dominant spastic paraplegia type 13

(no data available)