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Sea-blue histiocytosis
1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
Glutaryl-CoA dehydrogenase deficiency
1 OMIM reference -
1 associated gene
34 signs/symptoms
Sea-blue histiocytosis
Glutaryl-CoA dehydrogenase deficiency

APOE
(UniProt - OMIM)
 GCDH
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APOE
(0.63)
GCDH


Citations in the biomedical literature:


Sea-blue histiocytosis
APOE
Glutaryl-CoA dehydrogenase deficiency
GCDH



Sea-blue histiocytosis
Glutaryl-CoA dehydrogenase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- GA1
- GCDHD
- Glutaric acidemia type 1
- Glutaric aciduria type 1
- Glutaryl-coenzyme A dehydrogenase deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: child / adolescent
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536833
Sea-blue histiocytosis
Glutaryl-CoA dehydrogenase deficiency

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


Very frequent
- Autosomal recessive inheritance
- Dystonia / torticollis / writer's cramp / blepharospasms
- Encephalitis
- Hyperkinesia / dyskinesia
- Large fontanelle / delayed fontanelle closure
- Metabolic anomalies
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Extrapyramidal syndrome
- Facial dysmorphism
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Frontal bossing / prominent forehead
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Joint / articular deformation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Movement disorder
- Structural anomalies of the nervous system

Occasional
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Dizziness
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Malignant hyperthermia
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Retinal vascular anomalies / retinal telangiectasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Transient cerebral ischemia / stroke