Familial symmetric lipomatosis

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, CEPHALOTHORACIC
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
MSL
Central non-encapsulated lipomatosis
Madelung disease
Familial benign cervical lipomatosis
Launois-Bensaude adenolipomatosis
Number of Symptoms 15
OrphanetNr: 2398
OMIM Id: 151800
ICD-10: E88.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Mitochondrial inheritance
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic subcutaneous tissue disease
 -Rare genetic disease
Subcutaneous tissue disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
2
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
3
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
4
 (HPO:0000763) Sensory neuropathy Frequent [Orphanet] 78 / 7739
5
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
6
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
7
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
8
 (HPO:0000951) Abnormality of the skin 147 / 7739
9
 (HPO:0000855) Insulin resistance Frequent [Orphanet] 32 / 7739
10
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
11
 (HPO:0012032) Lipoma 10 / 7739
12
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (OMIM) Neck collar of fat 1 / 7739
15
 (OMIM) Somatic and autonomic neuropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose tissue. It is associated with high ethanol intake and may be complicated by somatic and autonomic neuropathy and by the infiltration ...
Clinical Description OMIM McKusick (1962) described 3 brothers with a collar of fat around the neck in the submandibular area and involving the nape of the neck. The age of onset was said to be 45, 39, and 29 years in ...
Population genetics OMIM Enzi et al. (1985) suggested that MSL is not rare in Mediterranean areas and that the frequency in Italy is about 1 per 25,000 males.