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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
1 associated gene
8 signs/symptoms
Glutathione synthetase deficiency without 5-oxoprolinuria
Disseminated superficial actinic porokeratosis

GSS MVK


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GSS
(0.63)
MVK



Citations in the biomedical literature:


Glutathione synthetase deficiency without 5-oxoprolinuria
GSS
Disseminated superficial actinic porokeratosis
MVK



Glutathione synthetase deficiency without 5-oxoprolinuria
Disseminated superficial actinic porokeratosis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Disseminated superficial actinic porokeratosis

Very frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Skin hypoplasia / aplasia / atrophy

Frequent
- Pruritus / itching
- Skin photosensitivity

Occasional
- Autosomal dominant inheritance
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)


Glutathione synthetase deficiency without 5-oxoprolinuria

(no data available)