PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr:
OMIM Id: 606721
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000271) Abnormality of the face 108 / 7739
2
(HPO:0000519) Congenital cataract 73 / 7739
3
(HPO:0000639) Nystagmus 555 / 7739
4
(HPO:0000580) Pigmentary retinopathy 49 / 7739
5
(HPO:0003487) Babinski sign 179 / 7739
6
(HPO:0001310) Dysmetria 76 / 7739
7
(HPO:0001278) Orthostatic hypotension 24 / 7739
8
(HPO:0002066) Gait ataxia 327 / 7739
9
(HPO:0002936) Distal sensory impairment 96 / 7739
10
(HPO:0001347) Hyperreflexia 363 / 7739
11
(HPO:0002169) Clonus 37 / 7739
12
(HPO:0001733) Pancreatitis 46 / 7739
13
(HPO:0000833) Glucose intolerance 20 / 7739
14
(HPO:0003124) Hypercholesterolemia 53 / 7739
15
(HPO:0002155) Hypertriglyceridemia 67 / 7739
16
(HPO:0000855) Insulin resistance 32 / 7739
17
(HPO:0007340) Lower limb muscle weakness 61 / 7739
18
(HPO:0007409) Absence of subcutaneous fat over entire body except buttocks, hips, and thighs 1 / 7739
19
(HPO:0009125) Lipodystrophy 54 / 7739
20
(HPO:0007485) Absence of subcutaneous fat 6 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(MedDRA:10063534) Ocular dysmetria 3 / 7739
23
(OMIM) Lack of facial fat 1 / 7739
24
(OMIM) Spastic-ataxic gait 1 / 7739
25
(OMIM) Increased vitamin E (alpha-tocopherol) levels 1 / 7739
26
(HPO:0003828) Variable expressivity 130 / 7739
27
(OMIM) Taut skin 1 / 7739
28
(OMIM) 'Hatchet' face 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Berger et al. (2002) described familial lipodystrophy associated with congenital cataracts and cerebellar and spinal cord dysfunction. The proposita, a 28-year-old woman with congenital partial lipodystrophy and cataracts, presented with a spastic-ataxic gait and lower extremity paresthesias at ...
Molecular genetics OMIM - Exclusion Studies

In a family with lipodystrophy associated with neurodegeneration and congenital cataracts, Berger et al. (2002) found no mutations in several candidate genes, including the spinocerebellar ataxia genes 1 through 7, the lamin A/C ...