Adenosine monophosphate deaminase deficiency
Synonyms: AMP deaminase deficiency · Myoadenylate deaminase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adenosine monophosphate deaminase deficiency | AMP deaminase deficiency · Myoadenylate deaminase deficiency |
| fr | Déficit en adénosine monophosphate désaminase | Déficit en AMP désaminase · Déficit en myoadénylate désaminase |
| de | Adenosinmonophosphat-Desaminase-Mangel | |
| es | Deficiencia de adenosina monofosfato deaminasa | |
| it | Deficit di adenosina monofosfato deaminasi | |
| nl | Adenosinemonofosfaatdeaminasedeficiëntie | AMP-deaminasedeficiëntie · Myodenylaatdeaminasedeficiëntie |
| pt | Deficiência de adenosina monofosfato desaminase | |
| pl | Niedobór deaminazy monofosforanu adenozyny | Niedobór deaminazy AMP deaminase · Niedobór mięśniowej deaminazy monofosforanu adenozyny |
| cs | Deficit adenosin monofosfát deaminázy | Deficit AMP deaminázy · Deficit myoadenylát deaminázy |
| uk | Дефіцит аденозинмонофосфатдезамінази | Дефіцит АМФ-дезамінази · Дефіцит міоаденілатдезамінази |
| zh | 腺苷一磷酸脱氨酶缺乏症 | 肌腺苷酸脱氨酶缺乏症 |
| tr | Adenozin monofosfat deaminaz eksikliği | AMP deaminaz eksikliği · Miyoadenilat deaminaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612874 | E | validated | |
| OMIM | 615511 | BTNT | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.0Y | NTBT | index | validated |
| MONDO | 13028 | E | validated | |
| MeSH | C538234 | E | validated | |
| UMLS | C2931781 | E | validated | |
| GARD | 547 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AMPD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:468 | ENSG00000116748 | 102770 | 1p13.2 | adenosine monophosphate deaminase 1 | |
| AMPD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:470 | ENSG00000133805 | 102772 | 11p15.4 | adenosine monophosphate deaminase 3 | 8004104[PMID]_11139257[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2017-08-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0003690 | Limb muscle weakness | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| Excluded (0%) | ||
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0002151 | Increased circulating lactate concentration | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 7440723[PMID]_6122873[PMID]_6707201[PMID]_8486786[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/45
- This record as JSON: /data/d/45.json