家族性部分型リポジストロフィー、家族性部分的リポジストロフィー
- 同
- FPLD
WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- showing favoritism
- being or affecting only a part; not total; "a partial description of the suspect"; "partial collapse"; "a partial eclipse"; "a partial monopoly"; "partial immunity"
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
- (また『part』)『一部分の』,部分的な;不完全な / 不公平な,偏った / 《補語にのみ用いて》(…が)特に好きで《+『to』+『名』》
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/03/24 03:34:42」(JST)
[Wiki en表示]
Familial partial lipodystrophy (also known as "Köbberling–Dunnigan syndrome"[1]) is an autosomal dominant skin condition characterized by the loss of subcutaneous fat.[2]:495
| OMIM |
Name |
Locus |
| 608600 |
FPLD1 (Kobberling-type, loss from extremities) |
? |
| 151660 |
FPLD2 (Dunnigan-type, loss from limbs and trunk) |
LMNA; 1q21.2 |
| 604367 |
FPLD3 |
PPARG; 7q11.23-q21.11, 3p25 |
Type 1 is believed to be underdiagnosed.[3]
See also[edit]
- Lipodystrophy
- List of cutaneous conditions
References[edit]
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1541–2, 1543. ISBN 1-4160-2999-0.
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ^ Herbst KL, Tannock LR, Deeb SS, Purnell JQ, Brunzell JD, Chait A (June 2003). "Köbberling type of familial partial lipodystrophy: an underrecognized syndrome". Diabetes Care 26 (6): 1819–24. doi:10.2337/diacare.26.6.1819. PMID 12766116.
|
Disorders of subcutaneous fat (M79.3, 729.3)
|
|
| Panniculitis |
| Lobular |
- without vasculitis
- Cold
- Cytophagic histiocytic
- Factitial
- Gouty
- Pancreatic
- Traumatic
- needle-shaped clefts
- Subcutaneous fat necrosis of the newborn
- Sclerema neonatorum
- Post-steroid panniculitis
- Lipodermatosclerosis
- Weber–Christian disease
- Lupus erythematosus panniculitis
- Sclerosing lipogranuloma
- with vasculitis: Nodular vasculitis/Erythema induratum
|
|
| Septal |
- without vasculitis: Alpha-1 antitrypsin deficiency panniculitis
- Erythema nodosum
- with vasculitis: Superficial thrombophlebitis
|
|
|
| Lipodystrophy |
| Acquired |
- generalized: Acquired generalized lipodystrophy
- partial: Acquired partial lipodystrophy
- Centrifugal abdominal lipodystrophy
- HIV-associated lipodystrophy
- Lipoatrophia annularis
- localized: Localized lipodystrophy
|
|
| Congenital |
- Congenital generalized lipodystrophy
- Familial partial lipodystrophy
|
|
|
|
|
|
noco (i/b/d/q/u/r/p/m/k/v/f)/cong/tumr (n/e/d), sysi/epon
|
proc, drug (D2/3/4/5/8/11)
|
|
|
|
|
Cytoskeletal defects
|
|
| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
|
|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
|
| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
|
|
|
| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
|
|
| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
|
| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
|
|
| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
|
|
| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
|
|
| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
|
|
| Other |
- Tauopathy
- Cavernous venous malformation
|
|
|
| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
|
|
| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
|
|
| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
|
|
See also: cytoskeletal proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
|
Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
|
|
| (1) Basic domains |
| 1.2 |
- Feingold syndrome
- Saethre–Chotzen syndrome
|
|
| 1.3 |
|
|
|
(2) Zinc finger
DNA-binding domains |
| 2.1 |
- (Intracellular receptor): Thyroid hormone resistance
- Androgen insensitivity syndrome
- Kennedy's disease
- PHA1AD pseudohypoaldosteronism
- Estrogen insensitivity syndrome
- X-linked adrenal hypoplasia congenita
- MODY 1
- Familial partial lipodystrophy 3
- SF1 XY gonadal dysgenesis
|
|
| 2.2 |
- Barakat syndrome
- Tricho–rhino–phalangeal syndrome
|
|
| 2.3 |
- Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
- Denys–Drash syndrome
- Duane-radial ray syndrome
- MODY 7
- MRX 89
- Townes–Brocks syndrome
- Acrocallosal syndrome
- Myotonic dystrophy 2
|
|
| 2.5 |
- Autoimmune polyendocrine syndrome type 1
|
|
|
| (3) Helix-turn-helix domains |
| 3.1 |
- ARX
- Ohtahara syndrome
- Lissencephaly X2
- MNX1
- HOXD13
- PDX1
- LMX1B
- MSX1
- Tooth and nail syndrome
- OFC5
- PITX2
- POU4F3
- POU3F4
- ZEB1
- Posterior polymorphous corneal dystrophy
- Fuchs' dystrophy 3
- ZEB2
|
|
| 3.2 |
- PAX2
- PAX3
- PAX4
- PAX6
- Gillespie syndrome
- Coloboma of optic nerve
- PAX8
- Congenital hypothyroidism 2
- PAX9
|
|
| 3.3 |
- FOXC1
- Axenfeld syndrome 3
- Iridogoniodysgenesis, dominant type
- FOXC2
- Lymphedema–distichiasis syndrome
- FOXE1
- Bamforth–Lazarus syndrome
- FOXE3
- Anterior segment mesenchymal dysgenesis
- FOXF1
- FOXI1
- Enlarged vestibular aqueduct
- FOXL2
- Premature ovarian failure 3
- FOXP3
|
|
| 3.5 |
- IRF6
- Van der Woude syndrome
- Popliteal pterygium syndrome
|
|
|
(4) β-Scaffold factors
with minor groove contacts |
| 4.2 |
- Hyperimmunoglobulin E syndrome
|
|
| 4.3 |
- Holt–Oram syndrome
- Li–Fraumeni syndrome
- Ulnar–mammary syndrome
|
|
| 4.7 |
- Campomelic dysplasia
- MODY 3
- MODY 5
- SF1
- SRY XY gonadal dysgenesis
- Premature ovarian failure 7
- SOX10
- Waardenburg syndrome 4c
- Yemenite deaf-blind hypopigmentation syndrome
|
|
| 4.11 |
|
|
|
| (0) Other transcription factors |
|
|
| Ungrouped |
- TCF4
- ZFP57
- TP63
- Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
|
|
| Transcription coregulators |
| Coactivator: |
- CREBBP
- Rubinstein–Taybi syndrome
|
|
| Corepressor: |
- HR (Atrichia with papular lesions)
|
|
|
See also transcription factors and intracellular receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
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English Journal
- Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement.
- McLaughlin PD, Ryan J, Hodnett PA, O'Halloran D, Maher MM.SourceDepartment of Radiology, Cork University Hospital, Wilton, Cork, Ireland.
- AJR. American journal of roentgenology.AJR Am J Roentgenol.2012 Nov;199(5):W602-6. doi: 10.2214/AJR.11.8110.
- OBJECTIVE: Familial partial lipodystrophy type 2 (Online Mendelian Inheritance in Man no. 151660) is a systemic disorder characterized by regional lipoatrophy and lipohypertrophy, severe insulin resistance, and early cardiovascular death. At initial presentation, whole-body MRI allows the radiologis
- PMID 23096204
- Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution.
- Capanni C, Squarzoni S, Cenni V, D'Apice MR, Gambineri A, Novelli G, Wehnert M, Pasquali R, Maraldi NM, Lattanzi G.SourceCNR-National Research Council of Italy; Institute of Molecular Genetics; Unit of Bologna-IOR; Bologna, Italy.
- Cell cycle (Georgetown, Tex.).Cell Cycle.2012 Oct 1;11(19):3568-77. doi: 10.4161/cc.21869. Epub 2012 Aug 30.
- Prelamin A processing impairment is a common feature of a restricted group of rare genetic alterations/disorders associated with a wide range of clinical phenotypes. Changes in histone posttranslational modifications, alterations in non-histone chromatin proteins and chromatin disorganization have b
- PMID 22935701
Japanese Journal
- 凍瘡様皮疹と限局性脂肪萎縮を伴う自己炎症疾患である家族性日本熱 : 中條-西村症候群
- 金澤 伸雄,古川 福実,松中 成浩,小池 通夫,杉野 禮俊
- 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 29(1), 7-12, 2010-05-31
- NAID 10026418420
- An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese
- Murase Y.,Yagi Kunimasa,Katsuda Y.,Asano A.,Koizumi Junji,Mabuchi Hiroshi
- Metabolism: Clinical and Experimental 51(8), 1017-1021, 2002
- … Rare mutations in LMNA were shown to cause familial partial lipodystrophy, a syndrome characterized by regional loss of adipose tissue, glucose intolerance, and dyslipidemia, making LMNA a candidate gene for insulin-resistant diabetes. …
- NAID 120000807445
★リンクテーブル★
[★]
- 英
- familial partial lipodystrophy
- 関
- 家族性部分的リポジストロフィー
[★]
- 英
- familial partial lipodystrophy
- 関
- 家族性部分型リポジストロフィー
[★]
- 同
- familial partial lipodystrophy
[★]
- 関
- division、in part、moiety、part、partially、partly、piece、portion、region
[★]
- 関
- family、family member、household、kindred
[★]
リポジストロフィー