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Adenosine monophosphate deaminase deficiency

2 OMIM references -
2 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 1

Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

Adenosine monophosphate deaminase deficiency

Huntington disease

AMPD1	(UniProt - OMIM)		HTT	(UniProt - OMIM)
AMPD3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AMPD1	(0.63)	HTT

Citations in the biomedical literature:

Adenosine monophosphate deaminase deficiency		Huntington disease
	Synonym(s): - AMP deaminase deficiency - Myoadenylate deaminase deficiency		Synonym(s): - Huntington chorea

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic 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: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C538234		External references: 1 OMIM reference - 1 MeSH reference: D006816

Adenosine monophosphate deaminase deficiency		Huntington disease
	Very frequent - Autosomal recessive inheritance		Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline