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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
10 signs/symptoms
Alpha-crystallinopathy
Hereditary central diabetes insipidus

CRYAB AVP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CRYAB
(0.8)
AVP



Citations in the biomedical literature:


Alpha-crystallinopathy
CRYAB
Hereditary central diabetes insipidus
AVP



Alpha-crystallinopathy
Hereditary central diabetes insipidus

Synonym(s):
- CRYAB-related myofobrillar myopathy

Synonym(s):
- Hereditary CDI
- Hereditary neurogenic diabetes insipidus

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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

Hereditary central diabetes insipidus

Very frequent
- Diabetes insipidus
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Thirst

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fever / chilling
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Malabsorption / chronic diarrhea / steatorrhea
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Obnubilation / coma / lethargia / desorientation
- Weight loss / loss of appetite / break in weight curve / general health alteration



Alpha-crystallinopathy

(no data available)