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Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central ...
Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. [3]: 495. FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck ...
Jill Viles was born in Des Moines, Idaho, in 1974, the eldest of five children. [2][1] Viles' mother was a stay-at-home parent, while her father worked as an assistant U.S. attorney. Up until the age of 4, Viles exhibited typical developmental milestones. [1] However, at age 4 she began frequently tripping and falling, describing the sensation ...
Lopes-Schliep has the LMNA R482W gene mutation, and was diagnosed with Dunnigan-type Lipodystrophy.The diagnosis came from DIY research conducted by Jill Viles, an Iowa mother without any medical training but who had Emery–Dreifuss muscular dystrophy and who spotted physical similarities between herself and Lopes-Schliep, and encouraged her to undergo genetic testing.
Familial partial lipodystrophy of the Dunnigan type (FPLD) 151660: Lipoatrophic diabetes: Lamin A/C: 2002 [32] Greenberg dysplasia: 215140: Skeletal dysplasia: Lamin B receptor: 2003 [33] Hutchinson–Gilford progeria syndrome (HGPS) 176670: Progeria: Lamin A/C: 2003 [17] Leukodystrophy, demyelinating, adult-onset, autosomal dominant (ADLD) 169500
Barraquer–Simons syndrome. Barraquer–Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax. [2][3] It is named for Luis Barraquer Roviralta (1855–1928), a Spanish physician, and Arthur Simons (1879–1942), a German physician. [4][5][6] Some evidence links it to LMNB2. [7]
Medical genetics. Short rib–polydactyly syndrome is a family of four closely related dysplasias: I – "Saldino-Noonan type". II – "Majewski type". III – "Verma-Naumoff type" (associated with DYNC2H1) [1] IV – "Beemer-Langer type".
4000 16905 Ensembl ENSG00000160789 ENSMUSG00000028063 UniProt P02545 P48678 RefSeq (mRNA) NM_001257374 NM_001282624 NM_001282625 NM_001282626 NM_005572 NM_170707 NM_170708 NM_001002011 NM_001111102 NM_019390 RefSeq (protein) NP_001244303 NP_001269553 NP_001269554 NP_001269555 NP_005563 NP_733821 NP_733822 NP_001002011 NP_001104572 NP_062263 Location (UCSC) Chr 1: 156.08 – 156.14 Mb Chr 3: 88 ...