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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
11 signs/symptoms
Short stature due to partial GHR deficiency
Encephalopathy due to prosaposin deficiency

GHR PSAP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.77)
PSAP



Citations in the biomedical literature:


Short stature due to partial GHR deficiency
GHR
Encephalopathy due to prosaposin deficiency
PSAP



Short stature due to partial GHR deficiency
Encephalopathy due to prosaposin deficiency

Synonym(s):
- Short stature due to partial growth hormone receptor deficiency

Synonym(s):
- Combined prosaposin deficiency

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
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 -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Encephalopathy due to prosaposin deficiency

Very frequent
- Abnormal eye movements / oculomotor disorder
- Autosomal recessive inheritance
- Death in infancy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Myoclonus / fasciculations
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly



Short stature due to partial GHR deficiency

(no data available)