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T-Lymphoblastic Leukemia/lymphoma
Wikipedia
External links [ edit ] Classification D ICD-O : M9729/3 (lymphoma) M9837/3 (leukaemia) MeSH : D054218 Precursor T-lymphoblastic leukemia entry in the public domain NCI Dictionary of Cancer Terms v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemias This article about a disease of the blood or immune system is a stub .
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Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Omim
The pregnancies had various complications, including HELLP syndrome (see 189800), pregnancy-induced hypertension, preeclampsia, oligohydramnios, and/or low blood pressure. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature (in some patients) HEAD & NECK Face - Dysmorphic facial features, mild, variable Ears - Low-set ears Eyes - Deep-set eyes - Prominent infraorbital creases - Medial eyebrow flare Nose - Prominent nasal bridge Mouth - High-arched palate ABDOMEN Gastrointestinal - Constipation SKELETAL Hands - Fifth finger clinodactyly SKIN, NAILS, & HAIR Skin - Sacral dimple MUSCLE, SOFT TISSUES - Axial hypotonia - Limb hypertonia NEUROLOGIC Central Nervous System - Global developmental delay - Delayed walking, mild - Unsteady gait - Balance problems - Coordination problems - Spasticity - Poor or absent speech - Seizures - EEG abnormalities - High pain threshold - Normal brain imaging Behavioral Psychiatric Manifestations - Hand-flapping - Pica IMMUNOLOGY - Low IgA (1 family) - Low IgG (i family) PRENATAL MANIFESTATIONS Amniotic Fluid - Oligohydramnios Maternal - Pregnancy-induced hypertension - HELLP syndrome - Pre-eclampsia - Low blood pressure Delivery - Premature delivery (in some patients) MISCELLANEOUS - Onset in infancy MOLECULAR BASIS - Caused by mutation in the deoxyhypusine synthase gene (DHPS, 600944.0001 ) ▲ Close
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Spinal Muscular Atrophy With Lower Extremity Predominance 1
Wikipedia
Classification D OMIM : 158600 v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis This genetic disorder article is a stub .
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Inborn Error Of Lipid Metabolism
Wikipedia
External links [ edit ] Classification D ICD - 10 : E75 , E78 ICD - 9-CM : 272 , 277.85 MeSH : D008052 v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis v t e Lysosomal storage diseases : Inborn errors of lipid metabolism ( Lipid storage disorders ) Sphingolipidoses (to ceramide ) From ganglioside ( gangliosidoses ) Ganglioside : GM1 gangliosidoses GM2 gangliosidoses ( Sandhoff disease Tay–Sachs disease AB variant ) From globoside Globotriaosylceramide : Fabry's disease From sphingomyelin Sphingomyelin : phospholipid: Niemann–Pick disease ( SMPD1-associated type C ) Glucocerebroside : Gaucher's disease From sulfatide ( sulfatidoses leukodystrophy ) Sulfatide : Metachromatic leukodystrophy Multiple sulfatase deficiency Galactocerebroside : Krabbe disease To sphingosine Ceramide : Farber disease NCL Infantile Jansky–Bielschowsky disease Batten disease Other Cerebrotendineous xanthomatosis Cholesteryl ester storage disease ( Lysosomal acid lipase deficiency / Wolman disease ) Sea-blue histiocytosis v t e Inborn error of lipid metabolism : fatty-acid metabolism disorders Synthesis Biotinidase deficiency (BTD) Degradation Acyl transport Carnitine CPT1 CPT2 CDSP CACTD Adrenoleukodystrophy (ALD) Beta oxidation General Acyl CoA dehydrogenase Short-chain SCADD Medium-chain MCADD Long-chain 3-hydroxy LCHAD Very long-chain VLCADD Mitochondrial trifunctional protein deficiency (MTPD): Acute fatty liver of pregnancy Unsaturated 2,4 Dienoyl-CoA reductase deficiency (DECRD) Odd chain Propionic acidemia (PCC deficiency) Other 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADHD) Glutaric acidemia type 2 (MADD) To acetyl-CoA Malonic aciduria (MCD) Aldehyde Sjögren–Larsson syndrome (SLS)APOA1, HADHB, LDLR, PPARA, APOB, PCSK9, LPL, APOE, LPA, SERPINF1, PPARG, CPT2, ADIPOQ, SIRT1, MIR122, MIR33A, HMGCR, TNF, SREBF1, REN, LDLRAP1, PON1, LPAL2, PAQR3, IL6, ABCA1, ACE, APOC3, APOA2, AZGP1, CHDH, SOCS7, PDCD4, ARNTL, PPARGC1A, HDAC1, BMS1, ABCG1, CAT, NR1I2, BECN1, FOSL1, TFEB, NR1I3, PRM3, PNPLA2, CRABP2, DGAT2, NLRP3, APOA5, ZBTB7C, ALB, LINC01194, ACOX1, MIR144, MIR200A, MIR206, MIR22, ACAT1, OPN1MW2, NR1H2, SREBF2, MSTN, MTTP, HNF4A, HSP90AB1, IARS1, OPN1MW, IL6R, LCAT, FOXO1, LEP, LIPA, LIPC, FCGR2B, EZH2, MPO, MT1B, PC, CTH, CYB5R3, PIK3R1, ACACA, CYP51A1, PRKCZ, RARRES2, CYP1B1, RXRG, SORT1, S100A7, SLC2A1, SLC2A4, SMPD1, SOAT1, OPN1MW3
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Neuroglycopenia
Wikipedia
Hypoglycorrhachia is associated with Glucose transporter type 1 GLUT1 deficiency syndrome (GLUT1DS). [7] Perhaps a much more common example of the same phenomenon occurs in the people with poorly controlled type 1 diabetes who develop symptoms of hypoglycemia at levels of blood glucose which are normal for most people. ... "Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet".
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Sister Mary Joseph Nodule
Wikipedia
Bailey: Demonstration of physical signs in clinical surgery. 11th edition, Baltimore, Williams & Wilkins, 1949, p 227. v t e Symptoms and signs relating to the human digestive system or abdomen Gastrointestinal tract Nausea Vomiting Heartburn Aerophagia Pagophagia Dysphagia oropharyngeal esophageal Odynophagia Bad breath Xerostomia Hypersalivation Burping Wet burp Goodsall's rule Chilaiditi syndrome Dance's sign Aaron's sign Arapov's sign Markle sign McBurney's point Sherren's triangle Radiologic signs : Hampton's line Klemm's sign Accessory liver : Councilman body Mallory body biliary: Boas' sign Courvoisier's law Charcot's cholangitis triad / Reynolds' pentad cholecystitis ( Murphy's sign Lépine's sign Mirizzi's syndrome ) Nardi test Defecation Flatulence Fecal incontinence Encopresis Fecal occult blood Rectal tenesmus Constipation Obstructed defecation Diarrhea Rectal discharge Psoas sign Obturator sign Rovsing's sign Hamburger sign Heel tap sign Aure-Rozanova's sign Dunphy sign Alder's sign Lockwood's sign Rosenstein's sign Abdomen Pain Abdominal pain Acute abdomen Colic Baby colic Abdominal guarding Blumberg sign Distension Abdominal distension Bloating Ascites Tympanites Shifting dullness Ascites Fluid wave test Masses Abdominal mass Hepatosplenomegaly Hepatomegaly Splenomegaly Other Jaundice Mallet-Guy sign Puddle sign Ballance's sign Aortic insufficiency Castell's sign Kehr's sign Cullen's sign Grey Turner's sign Hernia Howship–Romberg sign Hannington-Kiff sign Other Cupola sign Fothergill's sign Carnett's sign Sister Mary Joseph nodule
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Malignant Infantile Osteopetrosis
Wikipedia
The differential diagnosis of genetic osteosclerosing dysplasias including infantile osteopetrosis has been tabulated [1] and illustrated in literature citations. [3] Neuropathic infantile osteopetrosis Infantile osteopetrosis with renal tubular acidosis Infantile osteopetrosis with immunodeficiency IO with leukocyte adhesion deficiency syndrome (LAD-III) Intermediate osteopetrosis Autosomal dominant osteopetrosis (Albers-Schonberg) Pyknodysostosis (osteopetrosis acro-osteolytica) Osteopoikilosis (Buschke–Ollendorff syndrome) Osteopathia striata with cranial sclerosis Mixed sclerosing bone dysplasia Progressive diaphyseal dysplasia ( Camurati–Engelmann disease ) SOST-related sclerosing bone dysplasias Treatment [ edit ] The only effective line of treatment for malignant infantile osteopetrosis is hematopoietic stem cell transplantation . [2] [4] [5] It has been shown to provide long-term disease-free periods for a significant percentage of those treated;. [2] It can impact both hematologic and skeletal abnormalities; [2] [4] and has been used successfully to reverse the associated skeletal abnormalities. [4] [5] Radiographs of at least one case with malignant infantile osteopetrosis have demonstrated bone remodeling and recanalization of medullar canals following hematopoietic stem cell transplantation.
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Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer's Cramp
Omim
Clinical Features In 3 members from the same generation of a consanguineous Italian family, Guerrini et al. (1999) described a syndrome comprising rolandic epilepsy (RE; see 117100), paroxysmal exercise-induced dystonia (PED), and writer's cramp (WC). ... The authors noted that the disorder showed phenotypic similarities to autosomal dominant infantile convulsions and paroxysmal choreoathetosis syndrome (ICCA; 602066), which had been mapped to the same region.
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Cutaneous Lymphoid Hyperplasia
Wikipedia
External links [ edit ] Classification D ICD - 10 : L98.8 ( ILDS L98.812) MeSH : D01931 v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemias This cutaneous condition article is a stub .
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Primary Ovarian Insufficiency
Wikipedia
The ovaries will likely appear smaller than normal. [ medical citation needed ] The age of onset can be as early as 11 years. [16] POI can be seen as part of a continuum of changes leading to menopause [7] that differ from age-appropriate menopause in the age of onset, degree of symptoms, and sporadic return to normal ovarian function. [8] A contrasting problem can be when a girl never begins menstruation due to a genetic condition causing primary amenorrhea. [14] Causes [ edit ] Genetic associations [17] Type OMIM Gene Locus POF1 311360 FMR1 Xq26-q28 POF2A 300511 DIAPH2 Xq13.3-q21.1 POF2B 300604 POF1B Xq13.3-q21.1 POF3 608996 FOXL2 3q23 POF4 300510 BMP15 Xp11.2 POF5 611548 NOBOX 7q35 POF6 612310 FIGLA 2p12 POF7 612964 NR5A1 9q33 The cause of POI is idiopathic in 90% of cases. [6] Some cases of POI are attributed to autoimmune disorders, genetic disorders such as Turner syndrome and Fragile X syndrome , metabolic defects, and enzyme defects. [14] One study showed a strong correlation between incidence of POI and certain variants in the inhibin alpha gene. [ medical citation needed ] Chemotherapy and radiation treatments for cancer can sometimes cause POI. ... By lowering the endogenous FSH levels with ethinylestradiol (EE) or with a GnRH-a the receptor sites are free and treatment with exogenous recombinant FSH activates the receptors and normal follicle growth and ovulation can occur. [19] [20] (Since the serum Anti-Müllerian hormone (AMH) level is correlated with the number of remaining primordial follicles some researchers believe the above two phenotypes can be distinguished by measuring serum AMH levels. [21] Genetic associations include genetic disorders, [8] autoimmune diseases, [3] enzyme defects, [14] and resistant ovaries. [8] Mutations in FOXL2 cause Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES). Premature ovarian failure is part of the BPES Type I variant of the syndrome but not of the BPES Type II variant. [22] DNA repair deficiency [ edit ] BRCA1 protein plays an essential role in the repair of DNA double-strand breaks by homologous recombination . ... PMID 16954410 . ^ "Blepharophimosis, ptosis, and epicanthus inversus syndrome" . Medline Plus . Retrieved 10 November 2020 . ^ Rzepka-Górska I, Tarnowski B, Chudecka-Głaz A, Górski B, Zielińska D, Tołoczko-Grabarek A (November 2006). ... PMID 19939372 . ^ Albright F, Smith PH, Fraser R (1941). "A syndrome characterized by primary ovarian insufficiency and decreased stature: report of 11 cases with a digression on hormonal control of axillary and pubic hair". ... ACOG Committee Opinion, Number 747, August 2018 Classification D ICD - 10 : E28.3 ICD - 9-CM : 256.31 OMIM : 311360 MeSH : D016649 DiseasesDB : 9441 External resources eMedicine : med/1700 v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism v t e Disorders of translation and posttranslational modification Translation Ribosome : Diamond–Blackfan anemia FMR1 Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Premature ovarian failure 1 Initiation factor : Leukoencephalopathy with vanishing white matter snRNP : Retinitis pigmentosa 33 Posttranslational modification Protein folding Alzheimer's disease Huntington's disease Creutzfeldt–Jakob disease chaperonins: 3-Methylglutaconic aciduria 5 Protein targeting I-cell disease Ubiquitin E1 : X-linked spinal muscular atrophy 2 E3 : Johanson–Blizzard syndrome Von Hippel–Lindau disease 3-M syndrome Angelman syndrome Deubiquitinating enzyme : Machado–Joseph disease Aneurysmal bone cyst Multiple familial trichoepithelioma 1 SUMO OFC10 Other Multiple sulfatase deficiency Hyperproinsulinemia Ehlers–Danlos syndrome 6 v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS 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 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 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 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 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 ) v t e Extracellular ligand disorders Cytokine EDA Hypohidrotic ectodermal dysplasia Camurati–Engelmann disease Ephrin Craniofrontonasal dysplasia WNT Tetra-amelia syndrome TGF OFC 11 Fas ligand Autoimmune lymphoproliferative syndrome 1B Endothelin EDN3 Waardenburg syndrome IVb Hirschsprung's disease 4 Other DHH ( DHH XY gonadal dysgenesis ) BMP15 ( Premature ovarian failure 4 ) TSHB ( Congenital hypothyroidism 4 ) See also intercellular signaling peptides and proteinsBMP15, NR5A1, POF1B, FMR1, NOBOX, GDF9, STAG3, FIGLA, NANOS3, MCM8, PSMC3IP, EIF4ENIF1, SOHLH1, POU5F1, HFM1, NOG, CYP2C19, XPNPEP2, SOHLH2, WT1, NFE2L2, FANCF, ADAMTS19, SGO2, FRAXA, ESR1, BRD2, FSHR, AMH, FOXL2, INHA, DIAPH2, PIK3CG, PIK3CD, PIK3CB, PIK3CA, AR, PGRMC1, CYP19A1, HTC2, PTEN, TGFBR3, AMHR2, GALT, FOXO3, GPR3, FRAXE, MSC, MIR146A, SALL4, AIRE, DMC1, MCM9, MIR423, MIR144, TICAM2, MIR608, MSH4, HLA-DRB1, TMED7-TICAM2, IFI27, IL2, IL6, NLRP5, PGR-AS1, SYCE1, KIT, KITLG, MTHFR, MSH5, SIRT1, SEMA6C, HNF1B, SULT2A1, ZNRD2, SHOX, SHBG, DCTN6, PSMD9, VEGFA, TMED7, POMC, WNT4, NUDT11, MRPS22, XPO5, CPEB1, CXCL12, H3P23, BCL2, DAZL, BRCA1, BDNF, AGTR2, BMPR2, CYP2B6, AKT1, ESR2, CD38, COMT, CYP17A1, AFF2, FOXO1, FOXE1, FANCA, CDKN1B, FTO, NUP107, BRCA2, PACC1, ABRAXAS1, MEG3, NXF5, BMPR1B, BMPR1A, ATG9A, BNC1, AARS2, BMP4, FANCM, VTA1, IL21, GAS5, LIN28A, BMP2, TSPO, DROSHA, GAL, CASP3, FST, ATG7, CDK1, SH2B2, KHDRBS1, CD63, TCFL5, CD34, CD19, ACOT7, DKK1, SETX, ACSL6, RUNX2, HARS2, FAM215A, SPO11, CNTNAP2, DKKL1, BBS9, PDCD4, PCDH11X, REM1, SENP1, CAV1, BRSK1, FSHB, SPATA22, MIR135B, MIR15B, MIR190A, MIR19A, MIR21, MIR22, MIR25, MIR27A, MIR27B, MIR30D, MIR32, LHX8, POTEKP, ACTG2, ACVR2B, MIR518C, POTEM, POU5F1P3, POU5F1P4, MIR449B, ACTG1, MIR644A, RGPD2, HOTAIR, ACTB, ACTA1, FMR1-IT1, MIR15A, AFM, CBX2, POLR3H, TGIF2LX, CITED2, HELQ, OSR2, DACH2, BCKDHB, BAX, HDX, KLK3, ANG, ADAMTS16, ALB, MEIOB, MIR139, NPAS4, H19, WDR62, TMEM150B, RSPO2, AHR, ACTBL2, AGTR1, TBPL2, MAP3K15, AGT, MIR122, HAX1, AIM2, TLK1, NOTCH1, MMP9, MPO, EIF4E, EIF2B1, ATP6, COX1, MEGF8, MTRR, TRIM37, GADD45B, ATN1, NOS3, NOTCH2, DDT, OXA1L, SERPINE1, PCMT1, PCSK1, DNAH6, DLX6, DLX5, TIMM8A, PLA2G4A, PMM2, POLD1, POLG, MMP2, FOXO4, ERCC6, LIF, GJA4, HLA-A, HMOX1, AGFG2, HSD17B4, F9, HTR4, ID2, F2RL1, IGF2R, IL1A, IL1B, ETV6, IL4, ESRRG, IL10, INHBB, INSL3, JAK2, KDR, ERN1, LAMC1, LEP, LGALS1, LHB, DDX3X, PRIM1, PUM1, EIF2B2, TPO, TSC1, TSHB, TYMS, CSF3, CSF1R, CRP, ZP3, CXCR4, USP9X, TP63, EIF2B4, EIF2S2, MAPK3, SELENBP1, CLDN2, CLDN1, EXO1, HACD1, CLDN7, CHRM3, KL, ADIPOQ, MTOR, FHL5, PTGES, TNFRSF1A, TNF, TLR4, TIMP2, PRL, PRLR, ACE, DBH, RAN, REN, RET, RPA1, RPL10, RPS26, ACACA, CYP7A1, SKP2, SRY, SSB, SULT1A1, TAF4B, TAGLN, CYP1A1, PRDX2, TERT, TG, TGFBR2, CYB5A, TIMP1, SERPINA3
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Small-Cell Carcinoma
Wikipedia
Ectopic production of large amounts of ADH leads to syndrome of inappropriate antidiuretic hormone hypersecretion (SIADH). [ citation needed ] Lambert-Eaton myasthenic syndrome (LEMS) is a well-known paraneoplastic condition linked to small-cell carcinoma. [15] Small cell lung cancer [ edit ] Histopathologic image of small-cell carcinoma of the lung. ... Caution is required when diagnosing SCLC, because small cell mesothelioma — an extremely rare subtype of lung cancer — can be mistaken for small cell lung cancer. [16] It is thought to originate from neuroendocrine cells ( APUD cells ) in the bronchus called Feyrter cells (named for Friedrich Feyrter ). [17] Hence, they express a variety of neuroendocrine markers, and may lead to ectopic production of hormones like ADH and ACTH that may result in paraneoplastic syndromes and Cushing's syndrome. [18] Approximately half of all individuals diagnosed with Lambert-Eaton myasthenic syndrome (LEMS) will eventually be found to have a small-cell carcinoma of the lung. [15] Small-cell carcinoma is most often more rapidly and widely metastatic than non-small-cell lung carcinoma [19] (and hence staged differently). ... In addition, because of their neuroendocrine cell origin, small-cell carcinomas will often secrete substances that result in paraneoplastic syndromes such as Lambert-Eaton myasthenic syndrome . ... See also [ edit ] Brown-Séquard syndrome Cervical cancer Combined small-cell lung carcinoma Lung cancer Prostate cancer References [ edit ] ^ " small-cell carcinoma " at Dorland's Medical Dictionary ^ Nasu K, Hirakawa T, Okamoto M, et al. (2011). ... PMID 30280641 . ^ a b Titulaer MJ, Verschuuren JJ (2008). "Lambert-Eaton myasthenic syndrome: tumor versus nontumor forms".SMARCA4, TP53, PYCARD, RB1, CYP2A6, UGT1A1, NPPA, MTOR, BIRC5, CDKN2A, KIT, PDGFRA, NKX2-1, EGFR, H3P10, TTF1, ERG, CHGA, GSTM1, SMARCA2, TMPRSS2, SYP, CD274, NCAM1, SMARCA1, AR, ASCL1, KRAS, SOX2, EZH2, NUTM1, ERBB2, ENO2, CCND1, BCL2, UVRAG, CKAP4, INSM1, STMN1, TP63, SCLC1, AXL, GRP, PAX5, KLK3, POMC, PTEN, ALK, AURKA, RPE65, FOXA2, CDX2, CD44, CHEK1, EWSR1, EML4, ING5, KRT20, BCOR, FBXW7, LOC110806263, RHBDF2, TLE1, LIN28A, THRA, THBD, TGM2, TGFBR2, SF3B6, TGFB1, TERT, DNER, H3P8, MUC16, SYK, SFXN1, CTAG1A, SNCA, SMARCC1, SMARCB1, H3P23, SCGB1A1, TICAM2, LAMTOR2, VIM, POU5F1P4, TMED7-TICAM2, DICER1, POU5F1P3, SATB2, CIC, RASSF1, RPP14, RIPK3, MIR148B, SUB1, YBX3P1, DCTN6, RPL17-C18orf32, IL23R, IGF2BP3, ZNRD2, CDK2AP2, RAD50, SPATA2, FEZ1, NAPSA, TMED7, ARID1A, C17orf97, SMUG1, ABL1, SLC22A3, IGF1R, CTNNB1, CYP1A1, CYP2D6, CYP2E1, DNMT3B, HBEGF, EGF, ETV4, FGFR1, FHIT, FSHR, SFN, MSH6, FOXA1, HRAS, CTAG1B, CREBBP, CLDN4, CALCA, AKT2, APC, STS, FOXL2, BRAF, BSG, CASP8, CPB2, CAV1, CBR1, CCK, CDK4, CDKN1B, CEACAM5, IFI27, IGFBP2, SKP2, IL6, PDCD1, PIGR, PIK3CA, ADA, PIK3CD, PIK3CG, POU5F1, PPARG, PSMD9, RAF1, RET, RNASE3, RPL17, S100A9, SET, PAX3, NOTCH2, NFATC2, MAP2, CXCL8, CXCR2, ISL1, KRT19, LGALS3, SMAD4, MET, MYCL, CD99, MLH1, MRC1, MSH2, MTHFR, MYB, PIK3CB
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Adamtsl4-Related Eye Disorders
Gene_reviews
Disorders with Ectopia Lentis and/or Iris Anomalies to Consider in the Differential Diagnosis of ADAMTSL4- Related Eye Disorders View in own window Disorder Gene(s) MOI Distinguishing Clinical Features of This Disorder Ectopia lentis (OMIM 129600) FBN1 1 AD May be accompanied by the systemic features of Marfan syndrome Homocystinuria caused by cystathionine beta-synthase deficiency CBS AR Tall, thin stature High-arched feet Chest anomalies Intellectual disability Seizures Arterial atheroma formation Isolated sulfite oxidase deficiency SUOX AR Seizures Ataxia Dystonia Choreoathetotic movements Weill-Marchesani syndrome (WMS) ADAMTS10 FBN1 LTPBP2 AD 2 AR 2 Proportionate short stature Brachydactyly Joint stiffness WMS-like syndrome (OMIM 613195) ADAMTS17 AR Brachydactyly MSPKA (OMIM 251750) LTBP2 AR Megalocornea Glaucoma Microspherophakia Axial myopia Marfanoid features Aniridia PAX6 AD Iris hypoplasia Foveal dysplasia Optic nerve hypoplasia Nystagmus Axenfeld-Rieger syndrome type 1 (OMIM 180500) PITX2 AD Embryotoxon posterior Iridocorneal adhesions Iris anomalies Iridocorneal endothelial syndrome 3 NA 4 NA 4 Corneal edema Corneal endothelial irregularities Polycoria Iris nevus Iris coloboma >30 AD AR XL Variable 5 Anterior segment dysgeneses (OMIM PS107250) CPAMD8 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3 PXDN AD AR Microphthalmia Embryotoxon posterior Corneal opacities Sclerocornea Iris hypoplasia Iridocorneal adhesions Glaucoma Posterior polymorphous corneal dystrophy (OMIM PS122000) COL8A2 OVOL2 ZEB1 AD Posterior corneal opacities Iridocorneal adhesions Glaucoma AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; MSPKA = microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; XL= X-linked 1. Ectopia lentis most frequently occurs as an autosomal dominant disorder in association with pathogenic variants in FBN1 (OMIM 134797) that may (OMIM 154700) or may not (OMIM 129600) be accompanied by the systemic features of Marfan syndrome. 2. Pathogenic variants in ADAMTS10 are known to cause autosomal recessive WMS.
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Pneumocystis Pneumonia
Wikipedia
The dry cough distinguishes PCP from typical pneumonia. [5] Complications [ edit ] X-ray and CT of ground glass opacities and pneumothorax in Pneumocystis pneumonia. [6] Pneumothorax is a well-known complication of PCP. [7] Also, a condition similar to acute respiratory distress syndrome (ARDS) may occur in patients with severe Pneumocystis pneumonia, and such individuals may require intubation . [8] Pathophysiology [ edit ] The risk of PCP increases when CD4-positive T-cell levels are less than 200 cells/μL. ... It can occur in patients who have undergone solid organ transplantation or bone marrow transplantation and after surgery. [14] Infections with Pneumocystis pneumonia are also common in infants with hyper IgM syndrome , an X-linked or autosomal recessive trait. ... Primary pulmonary coccidioidomycosis Histoplasma capsulatum Histoplasmosis Primary cutaneous histoplasmosis Primary pulmonary histoplasmosis Progressive disseminated histoplasmosis Histoplasma duboisii African histoplasmosis Lacazia loboi Lobomycosis Paracoccidioides brasiliensis Paracoccidioidomycosis Other Blastomyces dermatitidis Blastomycosis North American blastomycosis South American blastomycosis Sporothrix schenckii Sporotrichosis Talaromyces marneffei Talaromycosis Yeast -like Candida albicans Candidiasis Oral Esophageal Vulvovaginal Chronic mucocutaneous Antibiotic candidiasis Candidal intertrigo Candidal onychomycosis Candidal paronychia Candidid Diaper candidiasis Congenital cutaneous candidiasis Perianal candidiasis Systemic candidiasis Erosio interdigitalis blastomycetica C. auris C. glabrata C. lusitaniae C. tropicalis Pneumocystis jirovecii Pneumocystosis Pneumocystis pneumonia Mold -like Aspergillus Aspergillosis Aspergilloma Allergic bronchopulmonary aspergillosis Primary cutaneous aspergillosis Exophiala jeanselmei Eumycetoma Fonsecaea pedrosoi / Fonsecaea compacta / Phialophora verrucosa Chromoblastomycosis Geotrichum candidum Geotrichosis Pseudallescheria boydii Allescheriasis Basidiomycota Cryptococcus neoformans Cryptococcosis Trichosporon spp Trichosporonosis Zygomycota ( Zygomycosis ) Mucorales ( Mucormycosis ) Rhizopus oryzae Mucor indicus Lichtheimia corymbifera Syncephalastrum racemosum Apophysomyces variabilis Entomophthorales ( Entomophthoramycosis ) Basidiobolus ranarum Basidiobolomycosis Conidiobolus coronatus / Conidiobolus incongruus Conidiobolomycosis Microsporidia ( Microsporidiosis ) Enterocytozoon bieneusi / Encephalitozoon intestinalis Mesomycetozoea Rhinosporidium seeberi Rhinosporidiosis Ungrouped Alternariosis Fungal folliculitis Fusarium Fusariosis Granuloma gluteale infantum Hyalohyphomycosis Otomycosis Phaeohyphomycosis v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis Wikimedia Commons has media related to Pneumocystis pneumonia .CSF2, NOS2, C3, HLA-DQB1, AZIN1, EMP1, DHFR, DHPS, PRCP, PGPEP1, BMP1, CYTB, CEL, PARP9, SLC27A5, SOD1, VANGL2, CD40LG, IL1B, IL4, ARTN, CXCL9, CLEC7A, ROR2, CELSR1, PTH, MAX, AGRP, CCR5, FZD6, TNF, MUC5AC, CRP, CD40, WNT5A, MUC5B, SLC9A6, CORO1A, LANCL1, EBNA1BP2, CXCR6, SEC24B, RABEPK, ACAT1, ATP6AP2, RECQL4, TGFB1, TNFRSF1A, TP53, SCGB1A1, WNT11, CXCR4, OFD1, PIK3R3, TP63, SOCS1, BECN1, ARHGEF7, CCRL2, ARHGEF2, LRRFIP1, WDHD1, PYCARD, POLG2, H3P44, PRICKLE1, GSC, WIPF2, APOBEC3F, ALKBH3, BTBD8, ARMH1, WG, TNFRSF13C, LURAP1, SFTPA1, SFTPA2, PCAT1, MYMX, H3P28, H3P47, CTHRC1, NLRP3, DKK1, SYT1, DAAM1, ATMIN, DAAM2, SCRIB, CABIN1, TES, CLEC4E, ASCC1, CLEC6A, WNT4, SMURF1, PLEKHA4, XYLT2, GORASP1, WNK1, UBASH3B, MAP3K7, RORA, STATH, FOXA2, MTOR, G6PD, GAD1, NR6A1, CBLIF, GNA12, GPX1, HOXD13, IL13, HSPA4, HSPA5, IL2, IL2RA, IL6, CXCL8, IL9, FOS, FLT1, ERG, CELSR2, ALB, ANXA6, APP, FAS, RHOA, STS, BTK, TNFRSF8, CDK1, CDC42, CDKN1C, COL1A1, COX8A, CTNNB1, DVL3, IL10, CXCL10, STAT6, ACTB, PSMD7, PSMD12, PTK7, RAC1, RAG2, RELA, REN, RORC, KIT, S100B, CXCL11, SFTPB, SFTPD, FSCN1, UAP1, STAT3, MAPK1, PKN1, POLD1, PKHD1, LAMC2, RPSA, MAT1A, MBL2, MDM2, MPP1, MRC1, RNR1, NEK2, NFKB1, NOTCH1, NTS, P4HB, PAK1, ENPP1, H3P40
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Chondrodysplasia Punctata 1, X-Linked
Gene_reviews
Molecular genetic testing approaches can include the following: If an Xp deletion syndrome is suspected (see Genetically Related Disorders), chromosomal microarray analysis (CMA) to detect genome-wide large deletions/duplications (including ARSL ) that cannot be detected by sequence analysis Single-gene testing. ... Disorders with Brachytelephalangic Chondrodysplasia Punctata (BCDP) in the Differential Diagnosis of CDPX1 View in own window Gene(s) Disorder MOI Additional Overlapping Feature Findings Distinguishing the Disorder from CDPX1 GGCX VKORC1 Combined deficiency of vitamin K-dependent clotting factor 1 (OMIM 277450) & factor 2 (OMIM 607473) AR Nasal hypoplasia Bleeding disorder due to variably ↓ levels of coagulation factors II, VII, IX, & X, & protein C, protein S, & protein Z MGP Keutel syndrome (OMIM 245150) AR More diffuse & progressive calcification of cartilage incl nose, auricles, & respiratory tract AR = autosomal recessive; CDPX1 = chondrodysplasia punctata 1, X-linked; MOI = mode of inheritance Table 3b. ... EBP CDPX2 1 XL Asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis, & atrophoderma Affected individuals are typically female Absence of nasal hypoplasia ↑ 8(9)-cholestenol & 8-dehydrocholesterol levels in plasma NSDHL 2 CHILD syndrome (See NSDHL -Related Disorders.) ... Also referred to as Conradi-Hünermann syndrome and Happle syndrome. 2. NSDHL encodes a cholesterol biosynthetic 4-methylsterol dehydrogenase. ... BCDP was reported in infants whose mothers had presumed vitamin K deficiency as a result of severe hyperemesis gravidarum [Brunetti-Pierri et al 2007], Crohn disease [Toriello et al 2013], small intestinal obstruction [Eash et al 2003], postoperative small bowel syndrome [Menger et al 1997, Khau Van Kien et al 1998], untreated celiac disease [Menger et al 1997], pancreatitis [Herman et al 2002], cholelithiasis [Jaillet et al 2005], and liver fibrosis due to transfusional iron overload [Xie et al 2013].
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Iga Nephropathy
Wikipedia
Very rarely (5% each), the presenting history is: Nephrotic syndrome (3–3.5 grams of protein loss in the urine, associated with a poorer prognosis) Acute kidney failure (either as a complication of the frank hematuria, when it usually recovers, or due to rapidly progressive glomerulonephritis which often leads to chronic kidney failure ) Chronic kidney failure (no previous symptoms, presents with anemia , hypertension and other symptoms of kidney failure, in people who probably had longstanding undetected microscopic hematuria and/or proteinuria) A variety of systemic diseases are associated with aggressive IgA nephropathy (Berger's disease) such as liver failure , cancer , celiac disease , systemic lupus erythematosus , rheumatoid arthritis , heart failure , reactive arthritis , ankylosing spondylitis and HIV . ... Other renal causes of isolated hematuria include thin basement membrane disease and Alport syndrome , the latter being a hereditary disease associated with hearing impairment and eye problems. ... Phenytoin has also been tried without any benefit. [8] A subset of IgA nephropathy patients, who have minimal change disease on light microscopy and clinically have nephrotic syndrome , show an exquisite response to steroids , behaving more or less like minimal change disease . ... History [ edit ] Dr Jean Berger William Heberden , the elder, first described the disease in 1801 in a 5-year-old child with abdominal pain, hematuria , hematochezia , and purpura of the legs. [15] In 1837, Johann Lukas Schönlein described a syndrome of purpura associated with joint pain and urinary precipitates in children. Eduard Heinrich Henoch , a student of Schönlein's, further associated abdominal pain and renal involvement with the syndrome. In 1968, Jean Berger (1930–2011), a pioneering French nephrologist , with co-author, the electron microscopist Nicole Hinglais, was the first to describe IgA deposition in this form of glomerulonephritis and therefore it is sometimes called Berger’s disease. [16] References [ edit ] ^ D'Amico, G (1987).TNFSF13, CARD9, VAV3, AGT, ACE, TGFB1, CFHR3, HLA-DQB1, CFHR1, ST6GALNAC2, SPRY2, TIMP1, CCL2, CD163, DEFA5, FOXM1, LHFPL2, C1QA, C1QB, C2, AURKB, CD44, PRC1, LAIR1, LAPTM5, SCGB1A1, MERTK, MAN2B1, PLAU, GPR183, VSIG4, CORO1C, SLC43A3, HPSE, MS4A6A, KIF15, TNFSF13B, FAS, B4GALT1, CFH, WAS, TNFSF14, MMP14, HLA-DRB1, HLA-A, MTMR3, ST6GAL1, HLA-B, HORMAD2, ITGAX, ACCS, HORMAD2-AS1, HLA-DPB2, TNFSF12-TNFSF13, IGHA1, IL1B, IL6, IGAN1, ACOXL, PSMB8, AGTR1, TNF, C1GALT1, MPDU1, REN, TLR9, FCAR, SERPINB7, IL4, IFNG, IL10, C1GALT1C1, TLR4, NPHS2, IL1A, ALB, IGF1, IL1RN, FN1, CDR3, NLRP3, C3, NOS3, MIR146A, MBL2, MIR148B, FCGR3B, LOC102723407, FCGR3A, CXCL8, LOC102724971, CD19, CYP11B2, CD14, CD79A, STAT4, RAPGEF5, C5AR1, VEGFA, MS4A1, HLA-DQA1, SYT1, SYK, ICAM1, BCL2, SELL, CD68, RELA, MAPK1, PPARG, PDGFB, SERPINE1, MMP9, ANP32B, EDN1, CFHR5, KRT20, MIR192, AICDA, APOE, WNK1, GORASP1, MIR205, ACTN4, HAVCR1, MIRLET7B, MUC20, PLAAT4, PTEN, RPS6KB1, CCL5, MAPK3, CABIN1, PIK3CG, MIR21, ADM, PIK3CD, PIK3CB, PIK3CA, MIR29C, ADD1, NOS2, MMP7, MIF, SELE, SMN2, SLC3A1, IL18, CCL27, AVP, ATR, KL, C5, TNFRSF6B, FASLG, HBHR, FOSL1, TP53, FCRL3, AGTR2, TLR3, EGF, TFRC, TRBV20OR9-2, TSLP, SPP1, PLA2R1, SMN1, MEST, TLR1, IL17A, CCN2, IL5, JCHAIN, IGHMBP2, IGFBP7, IFNA13, IFNA1, ID2, HMOX1, HLA-DRA, HLA-DQB2, HLA-DPB1, CCR6, CTNNB1, CX3CR1, CXCL1, GNAO1, FOS, DCN, FDX1, FCGRT, ESAT, EPHB2, IL5RA, ABO, CCR5, CXCR2, FOXP3, PPP1R15A, RNF19A, SNED1, POLDIP2, SLC17A5, MTOR, LAMP3, DKK3, TRAC, FOSL2, FOSB, BLNK, IL22, TNFRSF12A, AZU1, GDE1, SERPINC1, GNG2, CMA1, ANKRD16, PXK, RHOA, VPS50, ENAH, APOM, PDGFC, CD55, JAK3, STT3A, CD2AP, GAPDH, IL21, BCR, BSG, GOLGA2, BMS1, RASGRP1, OPTN, BLK, BID, BGN, BDNF, CIB2, CIB1, GNB3, AHSA1, POSTN, TNFRSF13B, BCL2L1, LCN2, CYP21A2, CCND1, APOBEC2, B4GALT7, BACH1, SYNPO, GATA3, ELL2, HECW1, DDN, PHLDB1, IL22RA1, ACE2, GRAP2, NTN4, ADD2, MIR150, MIR155, MIR17, ITGAM, MIR199A1, MIR199A2, MIR200B, MIR204, EPHX2, IRF5, MIR214, MIR215, ELANE, MIR30A, EIF4G1, MIR133B, MIR135B, ACYP2, MIR425, DEFA1A3, MIR555, MIR590, CCR2, MIR374B, MIR365B, IGAN2, EGFR, ACTB, F2RL1, HELT, LINC01193, QTRT1, ANGPT2, IFIH1, ALOX5, CCR4, DEFA3, TNS3, DNMT1, CHPF, VTCN1, AGBL2, MYCT1, FCGR2B, TLR10, NLRC5, FDCSP, JAG1, HAVCR2, FCGR2A, PARP1, ECM1, FCRLB, RBM45, IL23R, FBN1, PLB1, PEBP4, CLEC14A, FABP1, GDF15, ADIPOQ, MMP2, STAT1, CP, IKBKB, MEFV, CD46, CRK, PTH, PTPRC, PTX3, MBP, IGFBP1, CRP, RGS1, RHO, MAPK14, CD63, CHGA, CCL19, CCL20, CCL21, XCL1, MAP6, IFI27, CD37, CLU, TNC, HSPG2, SPG7, SPN, HPT, PON1, POMC, ACACA, CNR1, CDKN1C, MPG, MPV17, ATP6, MTM1, MTR, MUC1, MX1, MYD88, MYH9, NEU1, NGF, NGFR, CDKN1B, PLA2G1B, NOTCH1, NPY, NOTCH3, NPPC, NTRK1, PCNA, PDGFA, IL16, PIGR, COL4A2, IL2, COL4A5, KLF6, SST, NR4A1, CCR10, STAT6, LPA, YWHAZ, CASP9, CASP8, IL1R2, PLA2G7, AIMP2, ARHGEF5, UBE2K, HGF, CASP3, UBL4A, APOL1, SOCS1, PDE5A, CASP1, DDR1, INS, CYP19A1, TNFRSF10D, PER2, LMAN1, TIMELESS, NR3C1, USP14, USP2, MYOM2, C4BPB, C4BPA, VWF, BEST1, VIP, CTLA4, SMAD4, HMGB2, CST3, TFF3, SMAD2, TGFA, CD86, CD80, TIMP2, LTBR, TLR2, LTA, CD27, TNFRSF1B, EZR, TOP1, LRP2, TPM1, TRAF1, HSP90B2P, TXN, UBC, UBE2L3, HLA-DPA1, UMOD, VCAM1, VDR, LPP, VPS51
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Lafora Disease
Wikipedia
External links [ edit ] Classification D ICD - 10 : G40.3 ICD - 9-CM : 333.2 OMIM : 254780 MeSH : D020192 DiseasesDB : 30834 Lafora disease - OxfordJournals.org GeneReview/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis v t e Seizures and epilepsy Basics Seizure types Aura (warning sign) Postictal state Epileptogenesis Neonatal seizure Epilepsy in children Management Anticonvulsants Investigations Electroencephalography Epileptologist Personal issues Epilepsy and driving Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised Tonic–clonic Absence seizure Atonic seizure Automatism Benign familial neonatal seizures Lennox–Gastaut syndrome Myoclonic astatic epilepsy Epileptic spasms Status epilepticus Epilepsia partialis continua Complex partial status epilepticus Myoclonic epilepsy Progressive myoclonus epilepsy Dentatorubral–pallidoluysian atrophy Unverricht–Lundborg disease MERRF syndrome Lafora disease Juvenile myoclonic epilepsy Non-epileptic seizure Febrile seizure Psychogenic non-epileptic seizure Related disorders Sudden unexpected death in epilepsy Todd's paresis Landau–Kleffner syndrome Epilepsy in animals Organizations Citizens United for Research in Epilepsy (US) Epilepsy Action (UK) Epilepsy Action Australia Epilepsy Foundation (US) Epilepsy Outlook (UK) Epilepsy Research UK Epilepsy Society (UK)
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Circadian Rhythm Sleep Disorder
Wikipedia
ASPD is less common than DSPD, and is most prevalent within older populations. [ citation needed ] Familial Advanced Sleep Phase Syndrome (FASPS) is linked to an autosomal dominant mode of inheritance. ... An American Academy of Sleep Medicine Report: Practice Parameters for the Clinical Evaluation and Treatment of Circadian Rhythm Sleep Disorders, November 1, 2007 NASA Sleep–Wake Actigraphy and Light Exposure During Spaceflight-Long Experiment v t e Sleep and sleep disorders Stages of sleep cycles Rapid eye movement (REM) Non-rapid eye movement Slow-wave Brain waves Alpha wave Beta wave Delta wave Gamma wave K-complex Mu rhythm PGO waves Sensorimotor rhythm Sleep spindle Theta wave Sleep disorders Dyssomnia Excessive daytime sleepiness Hypersomnia Insomnia Kleine–Levin syndrome Narcolepsy Night eating syndrome Nocturia Sleep apnea Catathrenia Central hypoventilation syndrome Obesity hypoventilation syndrome Obstructive sleep apnea Periodic breathing Sleep state misperception Circadian rhythm disorders Advanced sleep phase disorder Cyclic alternating pattern Delayed sleep phase disorder Irregular sleep–wake rhythm Jet lag Non-24-hour sleep–wake disorder Shift work sleep disorder Parasomnia Bruxism Nightmare disorder Night terror Periodic limb movement disorder Rapid eye movement sleep behavior disorder Sleepwalking Somniloquy Benign phenomena Dreams Exploding head syndrome Hypnic jerk Hypnagogia / Sleep onset Hypnopompic state Sleep paralysis Sleep inertia Somnolence Nocturnal clitoral tumescence Nocturnal penile tumescence Nocturnal emission Treatment Sleep diary Sleep hygiene Sleep induction Hypnosis Lullaby Somnology Polysomnography Other Sleep medicine Behavioral sleep medicine Sleep study Daily life Bed Bunk bed Daybed Four-poster bed Futon Hammock Mattress Sleeping bag Bed bug Bedding Bedroom Bedtime Bedtime story Bedtime toy Biphasic and polyphasic sleep Chronotype Dream diary Microsleep Mouth breathing Nap Nightwear Power nap Second wind Siesta Sleep and creativity Sleep and learning Sleep deprivation / Sleep debt Sleeping while on duty Sleepover Snoring
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Nocturia
Wikipedia
Other causes of nocturnal polyuria include diseases such as congestive heart failure nephritic syndrome liver failure lifestyle patterns such as excessive nighttime drinking sleep apnea increasing obstructive airway resistance. ... External links [ edit ] Classification D ICD - 10 : R35 ICD - 9-CM : 788.43 MeSH : D053158 External resources Patient UK : Nocturia Look up nocturia in Wiktionary, the free dictionary. http://nocturia.elsevierresource.com/ Nocturia Resource Centre ", linked to the journal European Urology , has been providing a continuous update on nocturia, causes, consequences and clinical approaches. v t e Symptoms and signs relating to the urinary system Pain Dysuria Renal colic Costovertebral angle tenderness Vesical tenesmus Control Urinary incontinence Enuresis Diurnal enuresis Giggling Nocturnal enuresis Post-void dribbling Stress Urge Overflow Urinary retention Volume Oliguria Anuria Polyuria Other Lower urinary tract symptoms Nocturia urgency frequency Extravasation of urine Uremia Eponymous Addis count Brewer infarcts Lloyd's sign Mathe's sign v t e Sleep and sleep disorders Stages of sleep cycles Rapid eye movement (REM) Non-rapid eye movement Slow-wave Brain waves Alpha wave Beta wave Delta wave Gamma wave K-complex Mu rhythm PGO waves Sensorimotor rhythm Sleep spindle Theta wave Sleep disorders Dyssomnia Excessive daytime sleepiness Hypersomnia Insomnia Kleine–Levin syndrome Narcolepsy Night eating syndrome Nocturia Sleep apnea Catathrenia Central hypoventilation syndrome Obesity hypoventilation syndrome Obstructive sleep apnea Periodic breathing Sleep state misperception Circadian rhythm disorders Advanced sleep phase disorder Cyclic alternating pattern Delayed sleep phase disorder Irregular sleep–wake rhythm Jet lag Non-24-hour sleep–wake disorder Shift work sleep disorder Parasomnia Bruxism Nightmare disorder Night terror Periodic limb movement disorder Rapid eye movement sleep behavior disorder Sleepwalking Somniloquy Benign phenomena Dreams Exploding head syndrome Hypnic jerk Hypnagogia / Sleep onset Hypnopompic state Sleep paralysis Sleep inertia Somnolence Nocturnal clitoral tumescence Nocturnal penile tumescence Nocturnal emission Treatment Sleep diary Sleep hygiene Sleep induction Hypnosis Lullaby Somnology Polysomnography Other Sleep medicine Behavioral sleep medicine Sleep study Daily life Bed Bunk bed Daybed Four-poster bed Futon Hammock Mattress Sleeping bag Bed bug Bedding Bedroom Bedtime Bedtime story Bedtime toy Biphasic and polyphasic sleep Chronotype Dream diary Microsleep Mouth breathing Nap Nightwear Power nap Second wind Siesta Sleep and creativity Sleep and learning Sleep deprivation / Sleep debt Sleeping while on duty Sleepover Snoring
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Spasticity
Wikipedia
Lance (1980) describes it this way: "...a motor disorder, characterised by a velocity-dependent increase in tonic stretch reflexes (muscle tone) with exaggerated tendon jerks, resulting from hyper-excitability of the stretch reflex as one component of the upper motor neurone (UMN) syndrome". [2] Spasticity is found in conditions where the brain and/or spinal cord are damaged or fail to develop normally; these include cerebral palsy , multiple sclerosis , spinal cord injury and acquired brain injury including stroke . ... As there are many features of the upper motor neuron syndrome , there are likely to be multiple other changes in affected musculature and surrounding bones, such as progressive malalignments of bone structure around the spastic muscles (leading for example to the scissor gait and tip-toeing gait due to ankle equinus or ankle planter flexion deformity in spastic cerebral palsy children. scissor gait is caused by spasticity of the hip adductor muscles while tip-toeing gait is caused by spasticity of the gastrocnemius-soleus muscle complex or calf musculature. [5] [6] Also, following an upper motor neuron lesion, there may be multiple muscles affected, to varying degrees, depending on the location and severity of the upper motor neuron damage. ... While multiple muscles in a limb are usually affected in the upper motor neuron syndrome, there is usually an imbalance of activity, such that there is a stronger pull in one direction, such as into elbow flexion. ... However, the term "spasticity" is still often used interchangeably with "upper motor neuron syndrome" in the clinical settings, and it is not unusual to see patients labeled as "spastic" who actually demonstrate not just spasticity alone, but also an array of upper motor neuron findings. [20] Research has clearly shown that exercise is beneficial for spastic muscles, [21] even though in the very early days of research it was assumed that strength exercise would increase spasticity. ... "Spasticity: the misunderstood part of the upper motor neuron syndrome". Am J Phys Med Rehabil . 83 (10 Suppl): S3–9. doi : 10.1097/01.PHM.0000141125.28611.3E .SPAST, ACTL6B, PQBP1, EIF2B5, CNR1, ADRA2A, MECP2, SACS, L1CAM, SOD1, ATXN3, ALS2, SLC2A1, ALDH3A2, OPA3, BSCL2, SPG7, CTNNB1, C19orf12, TIMM8A, SIGMAR1, CIT, DDX3X, TBP, FXN, AARS1, ATXN2, FA2H, RARS1, GRIK2, UCHL1, HLA-DRB1, ATP13A2, KCNA1, POLR3B, VPS13D, DARS2, ND1, SLC17A5, RAB18, PGAP1, ARX, CACNA1A, TSEN54, CAPN1, KIF1A, SLC6A5, SIK1, SLC39A14, RAB3GAP2, FRRS1L, NUP62, AMACR, PIGQ, PIGN, ATP6V0A2, KAT6B, MATR3, SUZ12, BAZ1B, MACF1, TARDBP, VAPB, SZT2, WASHC4, RAB11B, RPGRIP1L, DENND5A, PLCB1, MLC1, AIMP1, FBXO7, TXN2, CACNA1G, ABHD12, PYCR2, TBK1, DCPS, PCLO, HTRA2, TPK1, CYFIP2, SUCLA2, TBL2, SYNGAP1, ACAT1, SQSTM1, AUTS2, MAPK8IP3, CNTNAP2, SETBP1, EIF2B4, CHMP2B, NECAP1, EIF2B3, EIF2B2, PARS2, SAMHD1, NDUFAF3, RTTN, AP1S2, PMPCA, RPIA, TNIK, OPTN, ERLIN1, MTHFS, NPC2, RNASEH2A, PMPCB, TUBB4A, TUBB3, TECR, WARS2, GABBR2, GPHN, RAD50, UNC13A, GTF2IRD1, SCO2, ZNF592, PUM1, KMT2B, ARNT2, FIG4, TELO2, RUSC2, ZEB2, DNAJC6, AP4B1, KIF1C, ITM2B, KDM5B, FRMPD4, COPB2, RAB3GAP1, TRAK1, CNKSR2, NTNG1, PARK7, PEX16, PNKP, TREX1, CHP1, MAN1B1, ERLIN2, AP4S1, POLR3A, MED23, B4GAT1, CLP1, PNPLA8, AFG3L2, PPARGC1A, MED17, WDR4, UBQLN2, INPP5K, SLC45A1, TPRKB, TOE1, NACC1, TP53RK, MARS2, TIMM50, RFT1, TMEM67, GFM1, REPS1, SERAC1, WDR73, PPP1R15B, ATAD1, GPT2, NKX6-2, GFM2, FAR1, RNASEH2C, JAM3, TRAPPC9, MED25, ISCA1, TRIM8, CLPB, LMAN2L, NUBPL, SPG11, CTC1, EDC3, NUS1, LRRK2, ISCA2, SUMF1, NPHP3-ACAD11, OCLN, RNU4ATAC, SNORD118, ATXN8, SDHAF1, GTF2H5, CHCHD10, BOLA3, NHLRC1, KIF7, HCN1, NEXMIF, UNC80, MTFMT, SLC13A5, HEPACAM, C9orf72, SPATA5, TMTC3, C11orf65, CKAP2L, B3GALNT2, BEAN1, MPLKIP, NADK2, TBC1D20, METTL23, PANK2, STN1, DHDDS, RETREG1, VPS11, PEX26, OSGEP, POMGNT1, ACER3, ATAD3A, LINS1, NSUN2, CC2D1A, GDAP2, VPS13C, TRIT1, GTPBP2, TREM2, ZC4H2, ADAM22, CRADD, WWOX, UFM1, UFC1, HIKESHI, SPG21, RSRC1, PIGP, CRBN, RLIM, TRAPPC12, EXOSC3, GLT8D1, KLHL7, ZC3H14, SIL1, UBA5, TCTN2, FBXO31, SLC25A22, NARS2, ROGDI, TMEM231, MBOAT7, NDUFAF5, MRPS34, PINK1, BCL11B, ARV1, NSD1, FMN2, IRF2BPL, MCCC2, ZNF335, GUF1, KCNT1, TRMT5, CC2D2A, AARS2, SCYL1, SNX14, C12orf4, MFF, MCCC1, PEX11B, SYNJ1, GPAA1, GRIN2D, KCNB1, KCNA2, IREB2, NDST1, HPRT1, HNRNPA1, HNMT, HMGCL, HLA-DQB1, HTT, GTF2I, GTF2E2, GRIN2B, KRAS, GRIN1, GRIA3, GNAO1, GLRB, GLRA1, GLE1, GJA1, GFAP, GCDH, GBE1, GBA, GABRG2, KIF11, LIMK1, OPHN1, TRNW, NPC1, NOTCH3, NEUROD2, NEK1, NEFH, NDUFV2, NDUFS4, NDUFS2, NDUFB8, NDUFA6, NAGA, MYO5A, TRNV, LMNB1, TRNP, TRNL1, TRNK, TRNI, EED, ND6, ND5, ND4, ND3, ND2, ATP6, MAN2B1, GABRB2, FUS, FTL, BCS1L, CSF1R, CREBBP, COX15, COX10, COL4A2, COL4A1, CLTC, ENTPD1, CCNF, CAMK2A, CACNA1B, CFAP410, ATRX, FOXG1, ATP7A, ATP6V1E1, ATP6V1A, ATM, ASPA, ARSA, ARF1, ANXA11, ANK3, ANG, AMPD2, AGA, CTSD, CYP27A1, DAO, DARS1, FGFR1, FGF12, EZH2, ERCC6, ERCC5, ERCC4, ERCC3, ERCC2, ERBB4, EPRS1, EPHA4, EML1, ELN, EIF2B1, EEF1A2, ECHS1, DNMT1, DYNC1I2, DNM1, DLD, DHPS, DHCR24, DDB2, DCX, DCTN1, NTRK2, TRNF, ALDH18A1, SDHD, SCN8A, SCN3A, RNF113A, SCN2A, EPM2A, SCN1B, ATXN8OS, ATXN7, ATXN1, SARS1, TUSC3, CLIP1, KAT6A, NUP214, AP3B2, RFC2, RAB27A, GAN, TAF15, PEX5, PEX2, PEX19, PTH2R, SDHA, YWHAG, LAGE3, ST3GAL3, TYROBP, TTR, VCP, TPI1, TCF20, TAF2, EZR, SURF1, ABCC8, STXBP1, CDKL5, SPTBN2, SPR, SOX10, SON, SNCA, SMPD1, CLIP2, XPA, SLC6A8, SLC2A3, XPC, SLC1A2, KDM5C, UBTF, SLC25A12, PRPH, PRNP, PPT1, PEX13, PEX14, PPP3CA, DEGS1, PFN1, PON3, PON2, PON1, PIGA, CASK, PLA2G6, PODXL, PIGC, PMM2, PEX12, PEX10, HTRA1, PRKN, CHMP1A, PSAP, PRSS12, PEX3, CNTNAP1, PDCD1, PEX1, PEX6, IKBKG, PEX7, EXOSC9, OPN1MW2, SLC12A5, OPN1MW, OPN1MW3, WAS, ATL1, GBA2, PLP1, IGFALS, GJC2, LEP, DDHD2, SPNS1, GRIA1, REEP1, NARS1, ROM1, MS, PSEN1, PHGDH, SLC35A2, SFXN1, IS1, ACP5, ARG1, RNASET2, BDNF, NAXE, PPT2, NIPA1, AHSG, RCC1, AR, CANDF1, ALB, CRP, MED20, TBX4, TP63, OPRM1, TBL1XR1, TTN, LY6E, PDXP, PTHLH, IGF1, IL10, IFT122, KCNA5, KCNA6, KCNC3, KIF5A, MAS1, HSP90B2P, POMC, POLG, PKM, PRDX5, PART1, FOXP3, PSAT1, NEFL, PNP, GATAD2B, HLA-C, RAC2, SPG16, ABCB6, ATP6AP2, SLC16A2, SLC12A2, DDHD1, FGF14, SLC1A4, GAST, SGCG, GALNS, GARS1, PAEP, WDR45, PAGR1, GRIA2, GRIK3, EXOSC8, GRM2, GRM7, SIK1B
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Delusional Parasitosis
Wikipedia
Delusional parasitosis Other names Delusional infestation or Ekbom's syndrome [1] Specialty Psychiatry , dermatology Delusional parasitosis (DP) is a mental disorder in which individuals have a persistent belief that they are infested with living or nonliving pathogens such as parasites , insects, or bugs, when no such infestation is present. ... The average age of people with the disorder is 57. An alternative name, Ekbom's syndrome, refers to the neurologist Karl-Axel Ekbom , who published seminal accounts of the disease in 1937 and 1938. [1] Contents 1 Classification 2 Signs and symptoms 3 Cause and mechanism 4 Diagnosis 4.1 Differential 5 Treatment 6 Prognosis 7 Epidemiology 8 History 8.1 Morgellons 9 Society and culture 10 See also 11 References 12 Further reading Classification [ edit ] Delusional infestation is classified as a delusional disorder of the somatic subtype in the Diagnostic and Statistical Manual of Mental Disorders ( DSM5 ). [1] [2] The name delusional parasitosis has been the most common name since 2015, but the condition has also been called delusional infestation, delusory parasitosis, delusional ectoparasitosis, psychogenic parasitosis, Ekbom syndrome, dermatophobia, parasitophobia, formication and "cocaine bugs". [2] Morgellons is a form of delusional parasitosis in which people have painful skin sensations that they believe contain fibers of various kinds; its presentation is very similar to other delusional infestations, but people with this self-diagnosed condition also believe that strings or fibers are present in their skin lesions. [1] [2] Delusory cleptoparasitosis is a form of delusion of parasitosis where the person believes the infestation is in their dwelling , rather than on or in their body. [3] Signs and symptoms [ edit ] People with delusional parsitosis believe that "parasites, worms, mites, bacteria, fungus" or some other living organism has infected them, and reasoning or logic will not dissuade them from this belief. [2] Details vary among those who have the condition, though it typically manifests as a crawling and pin-pricking sensation that is most commonly described as involving perceived parasites crawling upon or burrowing into the skin, sometimes accompanied by an actual physical sensation (known as formication ). [1] [2] [4] Sufferers may injure themselves in attempts to be rid of the "parasites"; resulting skin damage includes excoriation , bruising and cuts, as well as damage caused from using chemical substances and obsessive cleansing routines. [4] A "preceding event such as a bug bite, travel, sharing clothes, or contact with an infected person" is often identified by individuals with DP; such events may lead the individual to misattribute symptoms because of a more awareness of symptoms they were previously able to ignore. [1] Nearly any marking upon the skin, or small object or particle found on the person or their clothing, can be interpreted as evidence for the parasitic infestation, and individuals with the condition commonly compulsively gather such "evidence" to present to medical professionals. ... Ekbom originally used the German word dermatozoenwahn , but other countries used the term Ekbom's syndrome . That term fell out of favor because it also referred to restless legs syndrome . ... American Entomologist . 46 (1): 17–25. doi : 10.1093/ae/46.1.17 . ^ Hinkle NC (June 2011). "Ekbom syndrome: a delusional condition of "bugs in the skin " " (PDF) .