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4 OMIM references -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Chronic intestinal pseudoobstruction
Neonatal severe primary hyperparathyroidism

FLNA CASR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.89)
CASR



Citations in the biomedical literature:


Chronic intestinal pseudoobstruction
FLNA
Neonatal severe primary hyperparathyroidism
CASR



Chronic intestinal pseudoobstruction
Neonatal severe primary hyperparathyroidism

Synonym(s):
- CIPO

Synonym(s):
- NSHPT

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Chronic intestinal pseudoobstruction
Neonatal severe primary hyperparathyroidism

Very frequent
- Intestinal / colonic anomaly

Frequent
- Gastric / pyloric stenosis
- Intestinal / gut / bowel malrotation
- Structural anomalies of the nervous system

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies


Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperparathyroidy
- Hypotonia
- Metaphyseal anomaly
- Mutiple fractures / bone fragility
- Narrow rib cage / thorax
- Phosphocalcic metabolism anomalies
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Short stature / dwarfism / nanism
- Splenomegaly