Familial partial lipodystrophy, Köbberling type

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, FAMILIAL PARTIAL, KOBBERLING TYPE
FPLD1
Familial partial lipodystrophy type 1
Number of Symptoms 36
OrphanetNr: 79084
OMIM Id: 608600
ICD-10: E88.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000137) Abnormality of the ovary Frequent [Orphanet] 41 / 7739
2
 (HPO:0000287) Increased facial adipose tissue 3 / 7739
3
 (HPO:0000468) Increased adipose tissue around the neck 3 / 7739
4
 (HPO:0000842) Hyperinsulinemia Very frequent [Orphanet] 39 / 7739
5
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
6
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 131 / 7739
7
 (HPO:0100651) Type I diabetes mellitus Very frequent [Orphanet] 44 / 7739
8
 (HPO:0001735) Acute pancreatitis 6 / 7739
9
 (HPO:0001397) Hepatic steatosis Frequent [Orphanet] 75 / 7739
10
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
11
 (HPO:0001733) Pancreatitis Occasional [Orphanet] 46 / 7739
12
 (HPO:0001015) Prominent superficial veins 7 / 7739
13
 (HPO:0000991) Xanthomatosis 16 / 7739
14
 (HPO:0000956) Acanthosis nigricans Frequent [Orphanet] 54 / 7739
15
 (HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
16
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
17
 (HPO:0000855) Insulin resistance Very frequent [Orphanet] 32 / 7739
18
 (HPO:0003074) Hyperglycemia 37 / 7739
19
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
20
 (HPO:0001012) Multiple lipomas Frequent [Orphanet] 43 / 7739
21
 (HPO:0003011) Abnormality of the musculature 47 / 7739
22
 (HPO:0003635) Loss of subcutaneous adipose tissue in limbs 6 / 7739
23
 (HPO:0009003) Increased subcutaneous truncal adipose tissue 1 / 7739
24
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
25
 (HPO:0009017) Loss of gluteal subcutaneous adipose tissue 2 / 7739
26
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
27
 (HPO:0003621) Juvenile onset 105 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (OMIM) Loss of gluteal adipose tissue 1 / 7739
30
 (OMIM) Normal or increased facial and neck adipose tissue 1 / 7739
31
 (OMIM) Normal or increased adipose tissue around the neck 3 / 7739
32
 (OMIM) Increased serum lipoproteins 1 / 7739
33
 (OMIM) Normal or increased facial adipose tissue 3 / 7739
34
 (OMIM) Acanthosis nigricans in patients with diabetes 1 / 7739
35
 (OMIM) Increased serum total cholesterol 1 / 7739
36
 (OMIM) Increased metabolic rate 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986). ...
Clinical Description OMIM Kobberling et al. (1975) reported a woman with complete absence of subcutaneous fat on the arms and legs, well-developed adipose tissue on the trunk and face, severe hyperlipidemia, eruptive xanthomas, insulin-resistant diabetes mellitus with lack of ketoacidosis, hepatomegaly, ...