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Aceruloplasminemia

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1

X-linked distal spinal muscular atrophy

1 OMIM reference -
1 associated gene
No signs/symptoms info

Aceruloplasminemia

X-linked distal spinal muscular atrophy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CP	(0.52)	ATP7A

Citations in the biomedical literature:

Aceruloplasminemia		X-linked distal spinal muscular atrophy
	Synonym(s): - Hereditary ceruloplasmin deficiency		Synonym(s): - X-linked dHMN - X-linked dSMA - X-linked distal hereditary motor neuropathy

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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

Aceruloplasminemia
	Very frequent - Anaemia - Autosomal recessive inheritance - Chorea / athetosis / choreoathetosis / choreic syndrome - Diabetes mellitus - Hyperferritinemia / iron overload - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Retinopathy - Tremor Frequent - Ataxia / incoordination / trouble of the equilibrium - Dystonia / torticollis / writer's cramp / blepharospasms - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertonia / spasticity / rigidity / stiffness - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Elocution disorders / dysarthria / dysphonia - Heart / cardiac failure - Hypothyroidy - Troubles of memory / amnesia / hypermnesia
X-linked distal spinal muscular atrophy
(no data available)