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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary central diabetes insipidus
Fatal infantile hypertonic myofibrillar myopathy

AVP CRYAB


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary central diabetes insipidus
AVP
Fatal infantile hypertonic myofibrillar myopathy
CRYAB



Hereditary central diabetes insipidus
Fatal infantile hypertonic myofibrillar myopathy

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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



Fatal infantile hypertonic myofibrillar myopathy

(no data available)