Familial partial lipodystrophy due to AKT2 mutations
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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25
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OrphanetNr:
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79085
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OMIM Id:
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ICD-10:
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E88.1
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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:
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Prevalence:
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1
family
[Orphanet]
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Inheritance:
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Autosomal dominant
[Orphanet]
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Age of onset:
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Adult
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Familial partial lipodystrophy
-Rare endocrine disease
-Rare genetic disease
-Rare skin disease
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Comment:
| Monogenic form of diabetes caused by mutations in AKT2 (PMID:21127150) |
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1
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(HPO:0000147)
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Polycystic ovaries |
Frequent [Orphanet]
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18 / 7739
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2
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(HPO:0000138)
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Ovarian cyst |
Frequent [Orphanet]
typical [HPO]
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25 / 7739
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3
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(HPO:0000137)
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Abnormality of the ovary |
Frequent [Orphanet]
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41 / 7739
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4
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(HPO:0008675)
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Enlarged polycystic ovaries |
Frequent [Orphanet]
typical [HPO]
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14 / 7739
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5
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(HPO:0000831)
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Insulin-resistant diabetes mellitus |
Very frequent [Orphanet]
hallmark [HPO]
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22 / 7739
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6
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(HPO:0100651)
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Type I diabetes mellitus |
Very frequent [Orphanet]
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44 / 7739
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7
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(HPO:0001397)
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Hepatic steatosis |
Frequent [Orphanet]
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75 / 7739
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8
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(HPO:0007552)
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Abnormal subcutaneous fat tissue distribution |
Very frequent [Orphanet]
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12 / 7739
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9
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(HPO:0000956)
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Acanthosis nigricans |
Frequent [Orphanet]
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54 / 7739
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10
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(HPO:0000822)
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Hypertension |
Very frequent [Orphanet]
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224 / 7739
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11
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(HPO:0001658)
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Myocardial infarction |
Occasional [Orphanet]
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30 / 7739
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12
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(HPO:0002621)
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Atherosclerosis |
Occasional [Orphanet]
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33 / 7739
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13
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(HPO:0005177)
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Premature arteriosclerosis |
Occasional [Orphanet]
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7 / 7739
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14
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(HPO:0001677)
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Coronary artery disease |
Occasional [Orphanet]
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58 / 7739
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15
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(HPO:0001681)
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Angina pectoris |
Occasional [Orphanet]
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22 / 7739
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16
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(HPO:0004416)
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Precocious atherosclerosis |
Occasional [Orphanet]
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12 / 7739
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17
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(HPO:0001635)
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Congestive heart failure |
Occasional [Orphanet]
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232 / 7739
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18
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(HPO:0003077)
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Hyperlipidemia |
Very frequent [Orphanet]
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37 / 7739
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19
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(HPO:0003124)
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Hypercholesterolemia |
Very frequent [Orphanet]
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53 / 7739
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20
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(HPO:0002155)
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Hypertriglyceridemia |
Very frequent [Orphanet]
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67 / 7739
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21
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(HPO:0003119)
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Abnormality of lipid metabolism |
Very frequent [Orphanet]
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60 / 7739
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22
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(HPO:0000855)
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Insulin resistance |
Very frequent [Orphanet]
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32 / 7739
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23
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(HPO:0009064)
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Generalized lipodystrophy |
Very frequent [Orphanet]
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17 / 7739
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24
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(HPO:0009125)
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Lipodystrophy |
Very frequent [Orphanet]
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54 / 7739
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25
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(HPO:0009124)
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Abnormality of adipose tissue |
Very frequent [Orphanet]
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5 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |