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Kallmann Syndrome
Medlineplus
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. ... Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing. Kallmann syndrome can have a wide variety of additional signs and symptoms. ... The genes associated with Kallmann syndrome play roles in the development of certain areas of the brain before birth. ... Other people have Kallmann syndrome as a result of a new mutation in the ANOS1 gene.WDR11, PROKR2, ANOS1, CHD7, FGFR1, PROK2, FGF8, SOX10, KISS1R, TACR3, SEMA3A, NSMF, CCDC141, FEZF1, HESX1, FLRT3, SOX3, OTX2, SOX2, ARNT2, DCC, DUSP6, HS6ST1, SPRY4, IL17RD, FGF17, GNRHR, GNRH1, KISS1, GHRH, CSHL1, NR5A1, SERPINA4, STS, NR0B1, PRKAR2A, FN1, SSTR4, SEMA7A, BRD2, ADRA2B, ADRA1A, TUBB3, PLXNA1, BRS3, EDNRA, GPR42, IHH, ACKR3, CXCR6, LPAR2, NTN1, NRP1, SEMA3E, EBF2, RMST, TSHZ1, PALM2AKAP2, LINC01672, PROP1, NRP2, SCEL, AMH, ANK1, AXL, CD44, CD55, EMX1, EMX2, FGF1, GLI3, ANOS2P, LEP, LEPR, NDN, NT5E, NTRK1, PAX2, PCSK1, POMC, PRL, RMRP, ROBO1, SHOX, SIX3, RN7SL263P
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Iridocorneal Endothelial Syndrome
Gard
Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome ; Chandler's syndrome ; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea.
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Avellis Syndrome
Wikipedia
Avellis syndrome Specialty Neurology Avellis syndrome is a neurological disorder characterized by a peculiar form of alternating paralysis . ... It usually results from occlusion of the vertebral artery in lesions of the nucleus ambiguous and pyramidal tract . Horner's syndrome may be associated. In the original description, the vagus and glossopharyngeal nerves were involved; concomitant involvement of the neighbouring cranial nerves was observed later. [1] [2] References [ edit ] ^ Krasnianski, M; Neudecker, S; Schlüter, A; Zierz, S (Dec 2003). "Avellis' Syndrome in Brainstem Infarctions". Fortsch. ... Psychiatr . 71 (12): 650–3. doi : 10.1055/s-2003-45345 . PMID 14661158 . ^ "Avellis Syndrome" . whonamedit . Retrieved 10 Mar 2013 .
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Oculomucocutaneous Syndrome
Wikipedia
Oculomucocutaneous syndrome Specialty Ophthalmology Oculomucocutaneous syndrome is characterized by keratoconjunctivitis sicca and by scarring , fibrosis , metaplasia , and shrinkage of the conjunctiva . [1] It is a drug side effect observed in practolol and eperisone . It is speculated that antibodies against drug metabolites cause the syndrome. [2] References [ edit ] ^ Wright, P (Mar 15, 1975). "Untoward effects associated with practolol administration: oculomucocutaneous syndrome" . British Medical Journal . 1 (5958): 595–8. doi : 10.1136/bmj.1.5958.595 . ... "Possible role of antibody specific for a practolol metabolite in the pathogenesis of oculomucocutaneous syndrome" . British Medical Journal . 1 (6110): 402–4. doi : 10.1136/bmj.1.6110.402 .
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Saal Greenstein Syndrome
Wikipedia
Saal Greenstein syndrome Other names Robinow-like syndrome Autosomal recessive is the manner of inheritance of this condition Saal Greenstein syndrome is a very rare autosomal recessive genetic disorder characterized by stunted growth, short limbs, microcephaly , and an anomalous cleavage of the anterior chamber of the eye . The disorder is similar to Robinow syndrome except for anterior chamber anomalies and, in one case, hydrocephalus . [1] References [ edit ] ^ Greenstein, R.M.; Weinbaum, P.J.; Poole, A.E. ... "Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies".
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Flnb Disorders
Gene_reviews
Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. ... Although laryngotracheomalacia has been reported in association with Larsen syndrome, few individuals with Larsen syndrome and a documented FLNB pathogenic variant are severely affected. ... Genotype-Phenotype Correlations SCT syndrome. Homozygosity or compound heterozygosity for pathogenic frameshift or nonsense variants in FLNB causes SCT syndrome [Krakow et al 2004]. ... In contrast, other recessive disorders with multiple joint dislocations called Larsen syndrome in the past but not sharing other clinical characteristics of Larsen syndrome are best not referred to as Larsen syndrome [Topley et al 1994]. ... Isolated cervical fusions do not occur in SCT syndrome. MYH3 Contractures, pterygia, & variable skeletal fusions syndrome 1A (OMIM 178110) AD Vertebral, carpal, & tarsal fusions similar to findings in SCT syndrome Pterygia can be present in individuals w/ MYH3 pathogenic variant(s).
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May–thurner Syndrome
Wikipedia
May–Thurner syndrome Other names Iliac vein compression syndrome Iliac veins Specialty Vascular surgery May–Thurner syndrome ( MTS ), also known as the iliac vein compression syndrome , [1] is a condition in which compression of the common venous outflow tract of the left lower extremity may cause discomfort, swelling, pain or clots ( deep venous thrombosis ) in the iliofemoral veins . ... Venography will demonstrate the classical syndrome when causing deep venous thrombosis. ... This is currently being studied to determine whether this will decrease the incidence of post-thrombotic syndrome. Epidemiology [ edit ] May–Thurner syndrome (MTS) is thought to represent between two and five percent of lower-extremity venous disorders. [ medical citation needed ] May–Thurner syndrome is often unrecognized; however, current estimates are that this condition is three times more common in women than in men. [8] The classic syndrome typically presents in the second to fourth decades of life. ... See also [ edit ] Thoracic outlet syndrome (TOS) – Compression of the brachial plexus or subclavian vessels. ... Nutcracker syndrome - Compression of the left renal vein between aorta and upper mesenteric artery.
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Buschke–ollendorff Syndrome
Wikipedia
Buschke–Ollendorff sign Other names Dermatofibrosis lenticularis disseminata [1] Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance . Symptoms Osteopoikilosis, bone pain [2] Causes Mutations in the LEMD3 gene. [2] Diagnostic method X-ray , ultrasound [3] Treatment Surgery for hearing loss(or complications) [4] Buschke–Ollendorff syndrome (BOS)is a rare genetic disorder associated with LEMD3 . ... ISBN 978-1-4160-2999-1 . ^ a b c d "Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 29 December 2017 . ^ a b c RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Buschke Ollendorff syndrome" . www.orpha.net . Retrieved 29 December 2017 . ^ a b c d e Lukasz Matusiak (2 July 2008), Dermatofibrosis Lenticularis (Buschke–Ollendorf Syndrome) , eMedicine , retrieved 2009-09-05 ^ Online Mendelian Inheritance in Man (OMIM): 166700 ^ A. ... Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262. ^ Reference, Genetics Home. "Buschke-Ollendorff syndrome" . Genetics Home Reference . Retrieved 2018-05-13 . ^ Worman, Howard J.; Fong, Loren G.; Muchir, Antoine; Young, Stephen G.
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Otodental Syndrome
Wikipedia
Otodental syndrome Other names Otodental dysplasia Otodental syndrome is inherited in an autosomal dominant manner. ... Individuals diagnosed with otodental syndrome can be of any age; age is not a relevant factor. ... Due to the rarity of otodental syndrome, most symptoms are looked at on an individual basis unless multiple symptoms are all apparent at once. ... "The Portal for Rare Diseases and Orphan Drugs."Orphanet: Otodental Syndrome. N.p., Last Updated Nov. 2010. ... "LAMM Syndrome with Middle Ear Dysplasia Associated with Compound Heterozygosity for FGF3 Mutations."
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Eisenmenger Syndrome
Mayo_clinic
Eisenmenger syndrome is life-threatening. In Eisenmenger syndrome, there is irregular blood flow in the heart and lungs. ... Complications Eisenmenger syndrome is a life-threatening condition. ... Bleeding in the lungs. Eisenmenger syndrome can cause life-threatening bleeding in the lungs and airways. ... If you have Eisenmenger syndrome, talk to your care provider about your specific pregnancy risks. ... If you are diagnosed with Eisenmenger syndrome, you'll be referred to a heart specialist (cardiologist).
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Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Orphanet
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes.
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Danon Disease
Wikipedia
Cardiac conduction abnormalities can occur. Wolff-Parkinson-White syndrome is a common conduction pattern in Danon disease. ... Cardiac conduction abnormalities can occur. Wolff-Parkinson-White syndrome is a common conduction pattern in Danon disease. ... External links [ edit ] Classification D ICD - 10 : E74.0 OMIM : 300257 MeSH : D052120 External resources Orphanet : 34587 v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Genetic disorder , organelle: Peroxisomal disorders and lysosomal structural disorders Peroxisome biogenesis disorder Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease Adult Refsum disease-2 RCP 1 Enzyme-related Acatalasia RCP 2&3 Mevalonate kinase deficiency D-bifunctional protein deficiency Adult Refsum disease-1 Transporter-related X-linked adrenoleukodystrophy Lysosomal Danon disease See also: proteins , intermediates
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Sapho Syndrome
Wikipedia
SAPHO syndrome Other names Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome Specialty Rheumatology SAPHO syndrome includes a variety of inflammatory bone disorders that may be associated with skin changes. ... "Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases". ... PMID 16989598 . ^ Scarpato S, Tirri E (2005). "Successful treatment of SAPHO syndrome with leflunomide. Report of two cases". ... "Propionibacterium acnes and SAPHO syndrome: a case report and literature review" . ... "SAPHO: syndrome or concept? Imaging findings".
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Maroteaux–lamy Syndrome
Wikipedia
Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. ... People with one working copy are genetic carriers of Maroteaux-Lamy Syndrome. They have no symptoms but may pass down the defective gene to their children. ... In different populations worldwide, MPS-VI made up between 2 and 18.5% of all MPS disorders. [6] History [ edit ] It is named after Pierre Maroteaux (1926–2019) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French physicians. [7] [8] Isabel Bueso in 2019 Society and culture [ edit ] Keenan Cahill is a YouTuber with Maroteaux-Lamy syndrome. [9] Isabel Bueso , a Guatemalan woman with Maroteaux-Lamy syndrome who has been receiving treatment at UCSF Benioff Children's Hospital , was at risk of deportation from the United States after the Trump Administration ended the deferred action program in August 2019. [10] In December 2019, she was granted another deferral of two years. [11] See also [ edit ] Hurler Syndrome ( MPS I ) Hunter Syndrome (MPS II) Sanfilippo Syndrome (MPS III) Morquio Syndrome (MPS IV) References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... Retrieved 17 June 2019 . ^ a b c d Giugliani, Roberto (2017). "Maroteaux Lamy Syndrome" . National Organization for Rare Disorders . ... External links [ edit ] Classification D ICD - 10 : E76.2 ICD - 9-CM : 277.5 OMIM : 253200 MeSH : D009087 DiseasesDB : ddb29179 External resources eMedicine : ped/1373 v t e Lysosomal storage diseases : Inborn errors of carbohydrate metabolism ( Mucopolysaccharidoses ) Catabolism MPS I Hurler Syndrome , Hurler-Scheie Syndrome , Scheie Syndrome MPS II: Hunter Syndrome MPS III: Sanfilippo Syndrome MPS IV: Morquio Syndrome MPS VI: Maroteaux-Lamy Syndrome MPS VII: Sly Syndrome MPS IX: Hyaluronidase deficiency
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Postcholecystectomy Syndrome
Wikipedia
Long-term abdominal symptoms after gall bladder removal Postcholecystectomy syndrome Specialty Gastroenterology Postcholecystectomy syndrome ( PCS ) describes the presence of abdominal symptoms two years after [ clarification needed ] a cholecystectomy (gall bladder removal). ... The pain associated with postcholecystectomy syndrome is usually ascribed to either sphincter of Oddi dysfunction or to post-surgical adhesions . [4] A recent 2008 study shows that postcholecystectomy syndrome can be caused by biliary microlithiasis . [5] Approximately 50% of cases are due to biliary causes such as remaining stone, biliary injury, dysmotility and choledococyst . ... Thus, it may be insufficient for the digestion of fatty foods. Postcholecystectomy syndrome treatment depends on the identified violations that led to it. ... "Intestinal adhesions: an overlooked cause of the postcholecystectomy syndrome". Hepatogastroenterology . 37 (Suppl 2): 58–61. ... "Overlap between postprandial distress and epigastric pain syndromes in functional dyspepsia: its implications for research and clinical practice (am j gastroenterol 2013;108:767-774)" .
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Ogilvie Syndrome
Wikipedia
Ogilvie syndrome CT-Scan showing a coronal section of the abdomen of an elderly woman with Ogilvie syndrome Specialty Gastroenterology Ogilvie syndrome is the acute dilatation of the colon in the absence of any mechanical obstruction in severely ill patients. [1] Acute colonic pseudo-obstruction is characterized by massive dilatation of the cecum (diameter > 10 cm) and right colon on abdominal X-ray. [2] [3] It is a type of megacolon , sometimes referred to as "acute megacolon," to distinguish it from toxic megacolon . ... Its mortality rate can be as high as 30%. [7] The high rate is likely a measure that this syndrome is seen in critically ill patients, rather than this syndrome being in itself lethal, although it can also present in otherwise healthy individuals (especially if the disorder was induced by pharmacologic agents). ... Large-intestine colic due to sympathetic deprivation. A new clinical syndrome". Dis. Colon Rectum . 30 (12): 984–7. doi : 10.1007/BF02554291 . ... Archived from the original on 2005-11-07. ^ Skeik N, Jabr FI (2009). "Ogilvie Syndrome" . Consultant . 49 (2). ^ Tenofsky PL, Beamer L, Smith RS (2000). "Ogilvie syndrome as a postoperative complication" .
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Parinaud's Oculoglandular Syndrome
Wikipedia
Parinaud's oculoglandular syndrome Specialty Optometry Parinaud's oculoglandular syndrome is the combination of granulomatous conjunctivitis in one eye, and swollen lymph nodes in front of the ear on the same side. ... Occasionally it may be caused by other infections. [1] [2] It should not be confused with the neurological syndrome caused by a lesion in the midbrain which is also known as Parinaud's syndrome . ... PMID 12131048 . ^ Thompson S, Omphroy L, Oetting T (February 2001). "Parinaud's oculoglandular syndrome attributable to an encounter with a wild rabbit". ... PMID 11228320 . ^ Parentin F, Molin GD, D'Agaro P, Busetti M, Campello C (2007). "Parinaud's oculoglandular syndrome due to herpes simplex virus type 1". ... PMID 17558842 . ^ Costa PS, Hollanda BV, Assis RV, Costa SM, Valle LM (2002). "Parinaud'S oculoglandular syndrome associated with paracoccidioidomycosis" .
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Joubert Syndrome
Medlineplus
Joubert syndrome is a disorder that affects many parts of the body. ... Joubert syndrome can include a broad range of additional signs and symptoms. ... Together, those disorders were referred to as Joubert syndrome and related disorders (JSRD). Now, however, any instances that involve the molar tooth sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome. Frequency Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. ... Mutations in the genes associated with Joubert syndrome lead to problems with the structure and function of primary cilia.
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Hypochondrogenesis
Wikipedia
National Library of Medicine External links [ edit ] v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
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Dunnigan Familial Partial Lipodystrophy
Wikipedia
FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome , including central obesity , hyperinsulinemia , glucose intolerance and diabetes [1] usually type 2 , [2] dyslipidemia , hypertension , [1] and early endpoints of atherosclerosis . [2] It can also result in hepatic steatosis . [3] FPLD results from mutations in LMNA gene , which is the gene that encodes nuclear lamins A and C. [1] The condition is named after Scottish doctor Matthew Dunnigan, who pioneered early study into the disorder. [4] See also [ edit ] Familial partial lipodystrophy References [ edit ] ^ a b c Hegele, RA (December 2000). "Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome". Molecular Genetics and Metabolism . 71 (4): 539–44. doi : 10.1006/mgme.2000.3092 . ... "Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state" . ... External links [ edit ] Classification D ICD - 10 : E88.1 OMIM : 151660 v t e 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 GFAP : Alexander disease 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 ) Related topics: Cytoskeletal proteins This article about an endocrine, nutritional, or metabolic disease is a stub .