- Hepatoerythropoietic Porphyria Gene_reviews
-
Angiomyolipoma
Wikipedia
Such patients who are unable to communicate effectively (due to age or intellectual disability) are at risk of dehydration.TSC1, TSC2, MTOR, KIT, TESC, SLC12A3, MLANA, OGG1, VEGFD, RTL1, IFNG, PMEL, MDM2, PKD1, PDGFC, VIM, TP53, H3P45, TYR, VEGFA, SMUG1, CDKL2, CHL1, CCDC91, CD274, NOX4, IGF2-AS, UBASH3B, ARID1B, ABO, PSMC1, RPS6KB1, RPS6, ANXA6, BRAF, CD68, CDKN2A, CSPG4, CTNNB1, EGFR, IFIT1, IGF1, LGALS3, MEN1, MELTF, MITF, NOTCH1, PLAU, PPARG, ACTB, PTEN, PTHLH, H3P10
-
Dysosmia
Wikipedia
The odor signals are sent directly from the sensory receptor neuron to the primary cortex. However, communication between the primary and secondary olfactory cortex requires connections with the thalamus. [3] [5] Odor perception [ edit ] Odor identity, quality, and familiarity are mainly deciphered by the piriform cortex .
-
Autonomic Dysreflexia
Wikipedia
Mechanism [ edit ] Supraspinal vasomotor neurons send projections to the intermediolateral cell column, which is composed of sympathetic preganglionic neurons (SPN) through the T1-L2 segments. [7] The supraspinal neurons act on the SPN and its tonic firing, modulating its action on the peripheral sympathetic chain ganglia and the adrenal medulla . [7] The sympathetic ganglia act directly on the blood vessels they innervate throughout the body, controlling vessel diameter and resistance, while the adrenal medulla indirectly controls the same action through the release of epinephrine and norepinephrine . [7] The descending autonomic pathways, which are responsible for the supraspinal communication with the SPN, are interrupted resulting in decreased sympathetic outflow below the level of the injury. [7] In this circumstance, the SPN is controlled only by spinal influences. [7] The first couple of weeks after a spinal injury, the decreased sympathetic outflow causes reduced blood pressure and sympathetic reflex. [7] Eventually, synaptic reorganization and plasticity of SPN develops into an overly sensitive state, which results in abnormal reflex activation of SPN due to afferent stimuli, such as bowel or bladder distension. [7] Reflex activation results in systemic vasoconstriction below the spinal cord disruption.
-
Congenital Myopathy
Wikipedia
Lister Hill National Center for Biomedical Communications, U.S. National Library of Medicine, National Institutes of Health, U.S.RYR1, TPM2, NEB, SELENON, TTN, TPM3, CACNA1S, HACD1, SCN4A, MYL1, KY, TNNC2, ITGA7, LMNA, LARGE1, FKTN, POMT1, B4GAT1, POMGNT1, FKRP, CHKB, MYH7, ACTB, ACTA1, DES, MYH2, CFL2, LMOD3, STAC3, SMN2, SMN1, DNM2, MTM1, DMD, CHD7, MYMK, CAV3, CNTN1, KLHL40, CCDC78, LHX4, MEGF10, COL12A1, SPTBN4, MYH7B, SLC7A10, DYNC1H1, RPL3, NEFL, EIF3K, DTNA, EMD, TRDN, SPEG, ZMPSTE24, TRIP4, FHL1, FLNC, DYSF, GBE1, IGHMBP2, MYOG, KLHL31
-
Inflammatory Breast Cancer
Mayo_clinic
Ask your doctor about support groups in your community. Or try the online message boards run by organizations such as the American Cancer Society or BreastCancer.org.ALK, RHOC, EGFR, ESR1, ERBB2, TP53, PGR, CCN6, EGF, PIK3CA, XIAP, CD274, ERBB3, CAV1, MTCO2P12, NFKB1, PTGS2, COX2, CTNNB1, EZH2, NOTCH3, TNFSF10, PIK3CG, MYC, EIF4G1, STAT3, PIK3CB, PIK3CD, IL13, RIPK2, CD68, AHR, AKT1, APC, SDC1, MUC1, CXCL8, PTK2, PTEN, COL1A1, GLI1, VEGFA, IL10, FOXP3, INPP4B, ARHGEF7, GPRC5A, SLIT2, ADM, TP63, LGR5, TFF1, TGFA, THBD, TNF, TP73, SUMO1, UVRAG, VDR, VIM, WNT1, WNT5A, CXCL14, CXCR4, H3-4, IFITM1, SLC9A3R1, B3GAT1, APOBEC3B, TAS2R64P, MIR126, MIR150, MIR155, MIR15A, MIR181C, MIR19A, MIR205, MIR21, MIR26B, MIR30B, MIR335, MIR337, MIR451A, HOTAIR, MIR1303, MIR210HG, TMX2-CTNND1, MIR10B, ARHGAP24, PUM1, FTO, KIAA0100, HDAC6, SCGB1D2, NES, CKAP4, KCNQ1OT1, UBE2C, TJP3, AGO2, REM1, ASCC1, PRLH, NUSAP1, MED15, WWOX, KRT20, DGCR8, STAT6, PMAIP1, ST14, IDH2, CST6, CTNND1, CTSB, CTSV, CYP1B1, DHCR24, DLX4, ECT2, ERBB4, F2R, FGFR1, GLO1, GPX3, HAGH, HGF, CSF1R, CSF1, CPB2, BRCA2, AGT, ALDH1A1, AREG, BAX, BCL2, BRCA1, CD1A, COL10A1, MS4A1, CD40, CD44, CDK2, CCR7, COL5A1, HHEX, IL6, SIAH2, IL13RA1, PAK1, PDGFRA, PDGFRB, PARP1, CTSA, PPP3CA, PRKCZ, MAP2K7, PSEN2, RARRES1, RBM3, RHO, RPE65, S100A7, SELE, TNFRSF11B, NOTCH1, NFKB2, MARCKS, IL13RA2, IL18, KDR, KRT18, KRT81, LMNA, MCL1, MYB, MMP1, MMP2, MMP3, MMP11, MMP12, MUC4, H3P40
- Epileptic Encephalopathy, Early Infantile, 9 Omim
-
Tauopathy
Wikipedia
The combination of the neurofibrillary tangles and destabilized microtubules result in disruption of processes such as axonal transport and neural communication. [5] The degree of NFT involvement in AD is defined by Braak stages .MAPT, GSK3B, CDK5, RMDN1, RMDN2, TARDBP, SNCA, RMDN3, SYBU, ALOX5, GABPA, UBB, NFE2L2, APOE, PRNP, REG1A, APP, PTPA, LRRK2, EIF2AK3, MSMB, RIDA, STXBP3, SIRT1, PSPH, MAPK8, BPIFA2, PSPN, HSP90AA1, TREM2, BDNF, MIR132, AHSA1, AIMP2, SGSM3, GRAP2, POLDIP2, SOD1, RNF19A, CRK, FKBP4, IGLON5, MAPK14, HSPA4, PIN1, PARK7, CX3CR1, MAPK1, ADNP, NPC1, HSPA8, OGT, HSPB2, SYNJ1, TP53, SYK, LMNA, IRS1, OGA, PSEN1, NECTIN3, COX2, PDC, MAPK9, SRSF2, TTBK1, GGT1, CASP3, STH, DLG4, EFHD2, GGTLC5P, GGT2, FUS, BIN1, AKT1, OPN1MW, GGTLC3, CTNNBL1, GGTLC4P, OPN1MW3, ACTB, OPN1MW2, GRN, RANBP9, DNM1L, MPHOSPH6, MIR219A1, KAT5, MIR155, AKT3, KHDRBS1, C9orf72, USP9X, HDAC6, SCRN1, NUAK1, USP2, PER2, CLOCK, MIR375, NPEPPS, SLC32A1, SQSTM1, USP13, NRXN3, HSPB3, LGI1, TTBK2, INPP5K, SLC26A7, NLRP3, GORASP1, PTBP2, CNTNAP2, MARK4, FGF21, RNF213, CD274, PSAT1, PRLH, SDF4, DCTN4, PPME1, VPS35, OTUB1, LCMT1, NMNAT1, NUP62, WNK1, EIF2A, FOXP2, TESC, HSPH1, CYP46A1, PPARGC1A, PHF6, SNW1, BACE1, NMNAT2, DNAJC5, PLEKHM2, SPHKAP, ZC3H14, DUSP26, PSCA, SERPINA3, TFEB, DDC, RCAN1, DYRK1A, MARK2, PTK2B, FAT1, FKBP5, MTOR, FYN, GABRG2, GFAP, GH1, GTF2H1, HTT, HDAC2, HMOX1, HSF1, HSPA1A, HSPA1B, HSPB1, IAPP, IGF1, DPP4, DCTN1, WFS1, CTSS, ADORA2A, GRK2, AIF1, APOB, KLK3, ARG1, ARNTL, BRCA1, TSPO, C3, C3AR1, CAPN2, CAST, CASP2, CD36, CETN1, CHI3L1, CREB1, CSF1R, CST3, CTSD, IGFALS, IL1A, IL1B, IL6, ROS1, RPS6KB1, SET, SFPQ, ACHE, TRA2B, SLC12A3, SMARCA1, SOAT1, SP1, SRPK2, SYT1, TH, TIA1, TLR4, TNF, TPO, TSC1, TTR, TYROBP, EZR, RELA, RBM4, PVALB, NGFR, IL10, LEP, MAP2, MECP2, MFGE8, MID1, MPZ, NEFL, NGF, NOS1, PTGS2, NR4A2, PRKN, PLA2G4A, PLAG1, PLP1, PRKAA1, PRKAA2, PRKAB1, PROS1, MTCO2P12
-
Mucormycosis
Wikipedia
. ^ Staff Springfield News-Leader (June 10, 2011) "Aggressive fungus strikes Joplin tornado victims" Seattle PI, Hearst Communications Inc. ^ Ran Yuping (2016). "Observation of Fungi, Bacteria, and Parasites in Clinical Skin Samples Using Scanning Electron Microscopy".
-
Congenital Hyperinsulinism
Wikipedia
"Diagnostic role of 18F-dihydroxyphenylalanine positron emission tomography in patients with congenital hyperinsulinism: a meta-analysis". Nuclear Medicine Communications . 34 (4): 347–353. doi : 10.1097/MNM.0b013e32835e6ac6 .KCNJ11, ABCC8, GCK, FOXA2, HADH, HNF4A, GLUD1, HNF1A, INSR, UCP2, SLC16A1, MEN1, PDX1, NEUROD1, CDKN1A, PAX4, INS, KLF11, MPI, BLK, CEL, CDKN2C, CDKN1B, MAFA, CDKN2B, APPL1, SST, GCG, MTOR, NSD1, PGM1, HAO2, MAP4K3, PDHX, KDM6A, MCTS1, IQGAP1, NES, CIB2, FGF21, MED25, SAR1A, HAO1, MCAT, NHS, TRPC4, GLP1R, CDKN1C, CMA1, DDC, DPP4, EHHADH, EMP1, HSD17B10, SKIL, HRAS, IGF1, LEP, PCNA, PMM2, RIT2, IH
-
Lysosomal Acid Lipase Deficiency
Wikipedia
Jewish infants of Iraqi or Iranian origin appear to be most at risk based on a study of a community in Los Angeles in which there was a prevalence of 1 in 4200. [3] [5] History [ edit ] In 1956, Moshe Wolman , along with two other doctors, published the first case study of a LAL deficiency in a child born to closely related Persian Jews; 12 years later a case study on an older boy was published, which turned out to be the first case study of LAL-D. [3] [10] [11] [12] LAL-D was historically referred to as 2 separate disorders: Wolman disease, presenting in infant patients Cholesteryl Ester Storage Disease, presenting in pediatric and adult patients Around 2010 both presentations have come to be known as LAL-D, as both are due to a deficiency of the LAL enzyme. [2] In 2015 an enzyme replacement therapy , sebelipase alfa , was approved in the US and EU for the treatment of human LAL enzyme deficiency. [13] Before the approval of that drug, as of 2009 the two oldest survivors of LAL-D in the world were then aged 4 and 11; both of them had been treated with hematopoietic stem cell treatment. [14] Research directions [ edit ] Some children with LAL-D have had an experimental therapy called hematopoietic stem cell transplantation (HSCT), also known as bone marrow transplant , to try to prevent the disease from getting worse.
- Kufor-Rakeb Syndrome Omim
-
Troyer Syndrome
Gene_reviews
Occupational therapy, assistive walking devices, and ankle-foot orthotics as required Speech and language therapy to improve/maintain speech and swallowing, and communication devices as required Medication to reduce drooling may be helpful.
-
Cavities/tooth Decay
Mayo_clinic
Dentin has tiny tubes that directly communicate with the nerve of the tooth causing sensitivity.
-
Cardiorenal Syndrome
Wikipedia
Cardiorenal syndrome Specialty Nephrology Cardiorenal syndrome (CRS) is an umbrella term used in the medical field that defines disorders of the heart and kidneys whereby “acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other”. [1] The heart and the kidneys are involved in maintaining hemodynamic stability and organ perfusion through an intricate network. These two organs communicate with one another through a variety of pathways in an interdependent relationship.
-
Dog Skin Disorders
Wikipedia
Intras Polivet . 14 (2): 199–202. v t e Dogs Behavior Barking Communication Human–canine bond Intelligence Dog–cat relationship Health Aging Anatomy Coat Conformation Diseases Dog food Odor Rabies Reproduction Skin disorders Vaccination Training Clicker Crate training Training Housebreaking Socialization Types African village dogs Bichons Bulldogs Curs Dogos Feists Hairless dogs Herding dogs Hounds Scenthounds Sighthounds Laikas Livestock guardian dogs Mastiffs Pinschers Pointers Retrievers Setters Schnauzers Spaniels Spitz Street dogs Terriers Water dogs Wolfdogs Breeds List of breeds List of crossbreeds Breeding Crossbreeds Extinct breeds Most popular Pure breeds Roles Assistance dogs Attack dogs Bay dogs Catch dogs Companion dogs Detection dogs Fighting dogs Guard dogs Guide dogs Gun dogs Hearing dogs Herding dog Hunting dogs Lap dogs Meat dogs Mercy dog Pet dogs Police dogs Search and rescue dogs Sled dogs Therapy dogs Toy dogs Turnspit dogs War dogs Human–dog interaction Animal testing Baiting Breed-specific legislation Dog attack Dog fighting Dog park Human-canine bond Dog sports Dog walking Dog daycare Dog grooming Famous dogs Therapy Fear of dogs Dog licence Dog meat Dog food dog biscuit 2007 recalls Dogs in religion Dogs in space Origin of the domestic dog Category
-
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Omim
Thus, there appear to be multiple nonallelic mutations for deafness in this genetic isolate. On the basis of a personal communication from Baldwin (1998), Li et al. (1998) purported that the Israeli-Druze family indeed had Pendred syndrome.
-
Sea Star Wasting Disease
Wikipedia
Later the rainbow star ( Orthasterias koehleri ) developed the disease and died, but the bat star ( Patiria miniata ) and leather star ( Dermasterias imbricata ), which were living in the same tank and had been scavenging on the corpses, showed no ill effects. [9] At Natural Bridges State Marine Reserve in California, the ochre star is normally a very common resident on the mussel beds, but by November 2013 it was reported to have completely disappeared. [9] There have been signs of some recovery of ochre sea star populations ( Pisaster ochraceus ), with higher numbers of juvenile sea stars in the intertidal than had been previously common, especially for northern sites along the Pacific coast. [5] [4] [22] However, the biomass and the function of ochre sea stars in their communities, such as being important predators of mussels, has remained lower than pre-disease levels. [4] [22] Locations [ edit ] Currently, most cases are located on the west coast of North America, affecting sea stars from Baja California to the gulf of Alaska. [23] Map of Sea Star Wasting Syndrome Locations Causes [ edit ] As of November 2013, no identifiable cause for the disease had been found.
-
Renal Tubular Acidosis
Wikipedia
. ^ a b Hyporeninemic Hypoaldosteronism at eMedicine ^ Lightwood R. (1935). "Communication no. 1" . Arch Dis Child . 10 (57): 205–6. doi : 10.1136/adc.10.57.205 .SLC4A1, SLC4A4, SLC12A3, FOXI1, ATP6V0A4, CTSB, CYP11B1, ATP6V1B1, CLCNKB, SURF1, NUBPL, KYNU, SCO2, CLDN16, VIPAS39, NDUFAF3, EPG5, COQ2, RMND1, PDSS2, VPS33B, NADK2, NOTCH2, NDUFS2, NDUFB8, CAD, CPT1A, CA2, PDB1, ERBB2, MRGPRF, NT5C1A, CA1, CLCN5, CLCN7, COX16, COX10, EPHA3, ATP6V0A2, BAMBI, SLC26A4, RBFOX2, SLC12A7, NR5A1, GH1, KCNMA1, NR3C2, FGF23, PHA2A, PFKP, PFKM, JAG1
-
Pure Alexia
Wikipedia
Retrieved 30 March 2015 . v t e Symptoms , signs and syndromes associated with lesions of the brain and brainstem Brainstem Medulla (CN 8, 9, 10, 12) Lateral medullary syndrome/Wallenberg PICA Medial medullary syndrome/Dejerine ASA Pons (CN 5, 6, 7, 8) Upper dorsal pontine syndrome/Raymond-Céstan syndrome Lateral pontine syndrome ( AICA ) (lateral) Medial pontine syndrome / Millard–Gubler syndrome / Foville's syndrome ( basilar ) Locked-in syndrome Internuclear ophthalmoplegia One and a half syndrome Midbrain (CN 3, 4) Weber's syndrome ventral peduncle, PCA Benedikt syndrome ventral tegmentum, PCA Parinaud's syndrome dorsal, tumor Claude's syndrome Other Alternating hemiplegia Cerebellum Latearl Dysmetria Dysdiadochokinesia Intention tremor ) Medial Cerebellar ataxia Basal ganglia Chorea Dystonia Parkinson's disease Cortex ACA syndrome MCA syndrome PCA syndrome Frontal lobe Expressive aphasia Abulia Parietal lobe Receptive aphasia Hemispatial neglect Gerstmann syndrome Astereognosis Occipital lobe Bálint's syndrome Cortical blindness Pure alexia Temporal lobe Cortical deafness Prosopagnosia Thalamus Thalamic syndrome Other Upper motor neuron lesion Aphasia v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia