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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Metachromatic leukodystrophy, juvenile form
Short stature due to partial GHR deficiency

ARSA GHR
PSAP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Metachromatic leukodystrophy, juvenile form
ARSA PSAP
Short stature due to partial GHR deficiency
GHR



Metachromatic leukodystrophy, juvenile form
Short stature due to partial GHR deficiency

Synonym(s):
- Arylsulfatase A deficiency, juvenile form
- MLD, juvenile form

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

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: -
Type of inheritance: unknown

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

No signs/symptoms info available.