Partial acquired lipodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, CEPHALOTHORACIC TYPE
APLD, SUSCEPTIBILITY TO
LIPODYSTROPHY, PARTIAL, PROGRESSIVE
APLD
barraquer-simons syndrome
Progressive cephalothoracic lipodystrophy
Number of Symptoms 55
OrphanetNr: 79087
OMIM Id: 608709
ICD-10: E88.1
UMLs: C0220989
MeSH:
MedDRA:
Snomed: 75659004

Prevalence, inheritance and age of onset:

Prevalence: > 250 cases [Orphanet]
Inheritance:
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acquired lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis

Comment:

Monogenic form of diabetes caused by mutations in LMNB2 (PMID:21127150)

Symptom Information: Sort by abundance 

1
 (HPO:0000793) Membranoproliferative glomerulonephritis 8 / 7739
2
 (HPO:0000138) Ovarian cyst 25 / 7739
3
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
4
 (HPO:0008675) Enlarged polycystic ovaries 14 / 7739
5
 (HPO:0002907) Microscopic hematuria Frequent [Orphanet] 27 / 7739
6
 (HPO:0000100) Nephrotic syndrome 83 / 7739
7
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
8
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
9
 (HPO:0000147) Polycystic ovaries 18 / 7739
10
 (HPO:0009019) Progressive loss of facial adipose tissue 2 / 7739
11
 (HPO:0000292) Loss of facial adipose tissue 6 / 7739
12
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
13
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
14
 (HPO:0001328) Specific learning disability Frequent [Orphanet] 114 / 7739
15
 (HPO:0011147) Typical absence seizures Frequent [Orphanet] 33 / 7739
16
 (HPO:0001263) Global developmental delay Frequent [Orphanet] 853 / 7739
17
 (HPO:0002133) Status epilepticus Frequent [Orphanet] 59 / 7739
18
 (HPO:0002121) Absence seizures Frequent [Orphanet] 62 / 7739
19
 (HPO:0011097) Epileptic spasms Frequent [Orphanet] 45 / 7739
20
 (HPO:0001270) Motor delay Frequent [Orphanet] 322 / 7739
21
 (HPO:0001249) Intellectual disability Frequent [Orphanet] 1089 / 7739
22
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
23
 (HPO:0000831) Insulin-resistant diabetes mellitus Occasional [Orphanet] occasional [HPO] 22 / 7739
24
 (HPO:0000819) Diabetes mellitus 131 / 7739
25
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] occasional [HPO] 141 / 7739
26
 (HPO:0002829) Arthralgia Occasional [Orphanet] 79 / 7739
27
 (HPO:0001397) Hepatic steatosis Occasional [Orphanet] 75 / 7739
28
 (HPO:0001007) Hirsutism Occasional [Orphanet] occasional [HPO] 91 / 7739
29
 (HPO:0007495) Prematurely aged appearance Frequent [Orphanet] 44 / 7739
30
 (HPO:0000951) Abnormality of the skin Occasional [Orphanet] 147 / 7739
31
 (HPO:0000998) Hypertrichosis Occasional [Orphanet] 52 / 7739
32
 (HPO:0011354) Generalized abnormality of skin Occasional [Orphanet] 7 / 7739
33
 (HPO:0002230) Generalized hirsutism Occasional [Orphanet] occasional [HPO] 32 / 7739
34
 (HPO:0007552) Abnormal subcutaneous fat tissue distribution Very frequent [Orphanet] 12 / 7739
35
 (HPO:0004554) Generalized hypertrichosis Occasional [Orphanet] occasional [HPO] 30 / 7739
36
 (HPO:0100827) Lymphocytosis Frequent [Orphanet] 5 / 7739
37
 (HPO:0000855) Insulin resistance Occasional [Orphanet] 32 / 7739
38
 (HPO:0003119) Abnormality of lipid metabolism 60 / 7739
39
 (HPO:0005421) Decreased serum complement C3 9 / 7739
40
 (HPO:0005339) Abnormality of complement system Frequent [Orphanet] 3 / 7739
41
 (HPO:0002721) Immunodeficiency Occasional [Orphanet] 97 / 7739
42
 (HPO:0002960) Autoimmunity Frequent [Orphanet] 78 / 7739
43
 (HPO:0002718) Recurrent bacterial infections Occasional [Orphanet] 75 / 7739
44
 (HPO:0002719) Recurrent infections Occasional [Orphanet] 107 / 7739
45
 (HPO:0004431) Complement deficiency Frequent [Orphanet] 10 / 7739
46
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
47
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
48
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
49
 (HPO:0009064) Generalized lipodystrophy Very frequent [Orphanet] 17 / 7739
50
 (HPO:0009002) Loss of truncal subcutaneous adipose tissue 3 / 7739
51
 (HPO:0009056) Loss of subcutaneous adipose tissue from upper limbs 1 / 7739
52
 (OMIM) Loss of subcutaneous adipose tissue from upper limbs and trunk 2 / 7739
53
 (OMIM) Association with autoimmune disease 1 / 7739
54
 (OMIM) Sunken face 2 / 7739
55
 (OMIM) 'Progeroid' expression 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et ...
Clinical Description OMIM Early reports of this disorder include those of Barraquer (1907), Simons (1911), and Barraquer-Ferre (1935). Other early descriptions were published by Langhof and Zabel (1960) and Jeune et al. (1965).

Quecedo et al. (1996) reported 2 ...
Molecular genetics OMIM - Susceptibility Alleles

Hegele et al. (2006) used a candidate-gene approach to find disease-associated mutations in APLD. Since structural abnormalities in the LMNA gene (150330) cause familial partial lipodystrophy type 2 (151660), the authors considered it ...