Disease #05755 (lipodystrophy (lipodystrophy))

Official abbreviation lipodystrophy
Name lipodystrophy
OMIM ID -
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2020-05-23 16:01:49 +02:00 (CEST)
Date last edited N/A


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00301765 FGL100.4/5 PubMed: Patni 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States - - - - - lipodystrophy see paper; ..., early onset intellectual disability; childhood development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus, cataracts; lipodystrophy more pronounced in upper and lower extremities, no associated muscular hypertrophy LMNA ANK1, CD101, GREB1, LMNA, POU2F1 5 2 Johan den Dunnen
00410561 Pat23;Fam1PatIV1 PubMed: Schuermans 2022, Journal: Scheurmans 2021 5-generation family, 3 affected sisters (3F), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - lipodystrophy see paper; ..., lipoatrophy limbs; no cervico-facial lipohypertrophy; muscle hypertrophy; diabetes mellitus type 3; no acanthosis nigricans; hirsutism; polycystic ovary syndrome; no precocious puberty; dyslipidemia; hepatomegaly/hepatic steatosis; no hypothyroidism/goiter; hypertension; peripheral demyelinating neuropathy; no Intellectual disability; chronic muscle/joint pain - PLA2G16 1 3 Johan den Dunnen
00410604 Fam1PatIV2 Journal: Scheurmans 2021 sister F yes Turkey - - - - - lipodystrophy see paper; ..., lipoatrophy limbs; cervico-facial lipohypertrophy; muscle hypertrophy; diabetes mellitus type 4; acanthosis nigricans; hirsutism; dyslipidemia; hepatomegaly/hepatic steatosis; Intellectual disability - PLA2G16 1 1 Johan den Dunnen
00410605 Fam1PatIV6 Journal: Scheurmans 2021 sister F yes Turkey - - - - - lipodystrophy see paper; ..., lipoatrophy limbs; mild cervico-facial lipohypertrophy; muscle hypertrophy; diabetes mellitus type 5; no acanthosis nigricans; hirsutism; polycystic ovary syndrome; precocious puberty; dyslipidemia; hepatomegaly/hepatic steatosis; hypothyroidism/goiter; hypertension; no Intellectual disability; chronic muscle/joint pain - PLA2G16 1 1 Johan den Dunnen
00410606 Fam1PatIV6 Journal: Scheurmans 2021 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - lipodystrophy see paper; ..., lipoatrophy limbs; cervico-facial lipohypertrophy; muscle hypertrophy; diabetes mellitus type 6; acanthosis nigricans; hirsutism; polycystic ovary syndrome; no precocious puberty; dyslipidemia; hepatomegaly/hepatic steatosis; hypothyroidism/goiter; glomerulopathy; hypertension; peripheral demyelinating neuropathy; no Intellectual disability; chronic muscle/joint pain - PLA2G16 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.