Familial partial lipodystrophy, Köbberling type

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 28973478
(5630252)
 Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1.
Melvin A, Adams C, Flanagan C, Gaff L, Gratton B, Gribble F, Roberts G, Semple RK, O'Rahilly S, Rubino F, Stears A, Savage DB.
J Clin Endocrinol Metab. 2017;102(10):3616-3620.
Weight loss Lipodystrophy
Adult Females Gastric Bypass Homo sapiens Middle Aged Roux-en-Y Anastomosis
2
(4.0%)		 25637899
 [Familial partial lipodystrophy type 1. A rare or underdiagnosed syndrome?].
Soutelo J, Gruneisen M, Fritz C, Sordo L, Powazniak Y, Lutfi R.
Medicina (B Aires). 2015;75(1):41-3.
Hypertension
LMNA
Acanthosis Nigricans Buttocks Differential Diagnosis Females Homo sapiens Middle Aged Rare Diseases Subcutaneous Fat
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000819 Diabetes mellitus Very frequent (99-80%)
HP:0000822 Hypertension Very frequent (99-80%)
HP:0000842 Hyperinsulinemia Very frequent (99-80%)
HP:0000855 Insulin resistance Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0000147 Polycystic ovaries Frequent (79-30%)
HP:0000991 Xanthomatosis Frequent (79-30%)
HP:0001397 Hepatic steatosis Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0000956 Acanthosis nigricans Occasional (29-5%)
HP:0001677 Coronary artery atherosclerosis Occasional (29-5%)
HP:0001733 Pancreatitis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0009125 Lipodystrophy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
LMNA lamin A/C 4000