loading...| Preferred Name |
PPARG-related familial partial lipodystrophy |
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| Synonyms |
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) |
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| Definitions |
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidaemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1197745002 |
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| Active |
1 |
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| altLabel |
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy Familial partial lipodystrophy type 3 FPLD3 - familial partial lipodystrophy type 3 |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
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| CTV3ID |
XVHgN |
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| cui |
C1720861 |
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| definition |
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidaemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20220228 |
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| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/67769002 http://purl.bioontology.org/ontology/SNOMEDCT/22943007 |
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| notation |
1197745002 |
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| prefLabel |
PPARG-related familial partial lipodystrophy |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 447562003~MAPTARGET~E88.1 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~E88.1 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS E88.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPADVICE~ALWAYS E88.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 900000000000497000~MAPTARGET~XVHgN |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363045008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/49292002 |