Myopathy due to myoadenylate deaminase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 18 |
| OrphanetNr: | |
| OMIM Id: |
615511
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive 23622405 [IBIS] |
| Age of onset: |
Childhood Adult 23622405 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT |
Comment:
| Inherited myoadenylate deaminase (mAMPD) has heterogenous clinical manifestations. The vast majority of individuals with mAMPD deficiency are asymptomatic (PMID:23622405). |
Symptom Information:
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(HPO:0002189) | Excessive daytime sleepiness | 26439223 | IBIS | 8 / 7739 | ||
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(HPO:0003738) | Exercise-induced myalgia | 10996775; 1631143; 26439223 | IBIS | 19 / 7739 | ||
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(HPO:0012378) | Fatigue | 26439223 | IBIS | 50 / 7739 | ||
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(HPO:0100786) | Hypersomnia | 26439223 | IBIS | 4 / 7739 | ||
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(HPO:0003546) | Exercise intolerance | 23622405; 26439223 | IBIS | 62 / 7739 | ||
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(HPO:0003201) | Rhabdomyolysis | rare [HPO:skoehler] | 1631143; 26439223 | IBIS | 27 / 7739 | |
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(HPO:0003750) | Increased muscle fatiguability | 1631143 | IBIS | 8 / 7739 | ||
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(HPO:0001324) | Muscle weakness | 10996775; 1631143 | IBIS | 859 / 7739 | ||
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(HPO:0003326) | Myalgia | 23622405; 1631143 | IBIS | 143 / 7739 | ||
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(HPO:0001315) | Reduced tendon reflexes | 10996775 | IBIS | 160 / 7739 | ||
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(HPO:0001252) | Muscular hypotonia | rare [HPO:skoehler] | 10996775 | IBIS | 990 / 7739 | |
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(HPO:0003391) | Gowers sign | 10996775 | IBIS | 37 / 7739 | ||
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(HPO:0002515) | Waddling gait | 10996775 | IBIS | 56 / 7739 | ||
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(HPO:0002317) | Unsteady gait | 10996775 | IBIS | 45 / 7739 | ||
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(HPO:0003202) | Skeletal muscle atrophy | 10996775 | IBIS | 281 / 7739 | ||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 23622405 | IBIS | 214 / 7739 | ||
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(HPO:0008305) | Exercise-induced myoglobinuria | 23622405 | IBIS | 7 / 7739 | ||
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(HPO:0003710) | Exercise-induced muscle cramps | 23622405 | IBIS | 11 / 7739 |
Associated genes:
| AMPD1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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