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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Sea-blue histiocytosis
Autosomal recessive distal renal tubular acidosis without deafness

APOE ATP6V0A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOE
(0.63)
ATP6V0A4



Citations in the biomedical literature:


Sea-blue histiocytosis
APOE
Autosomal recessive distal renal tubular acidosis without deafness
ATP6V0A4



Sea-blue histiocytosis
Autosomal recessive distal renal tubular acidosis without deafness

Synonym(s):
(no synonyms)

Synonym(s):
- AR dRTA without deafness
- AR dRTA without hearing loss
- Autosomal recessive distal renal tubular acidosis without hearing loss
- Renal tubular acidosis type 1c

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the genitourinary system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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

Sea-blue histiocytosis

Very frequent
- Blepharitis / eyelid inflammation
- Cutaneous edema
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Mediastinal / hilar adenopathies
- Purpura / petichiae
- Splenomegaly
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thrombocytopenia / thrombopenia

Frequent
- Lung / pulmonary infiltrates

Occasional
- Irregular / in bands / reticular skin hyperpigmentation
- Retinopathy


Autosomal recessive distal renal tubular acidosis without deafness

(no data available)