-
Huntington Disease
Orphanet
Other unwanted movements include tics, comparable to those seen in Tourette syndrome (see this term), but these are fairly rare.HTT, CNR1, OGG1, GDNF, SLC2A3, MAOA, AIFM1, SLC29A1, FAAH, RCAN1, DIABLO, PPARGC1A, PPP1R1B, MAOB, IP6K2, GAP43, NRSN1, GAL, NFE2L2, RELN, CNTF, ZDHHC17, CREB1, NPY, LEP, ITPR1, MMP9, PPARD, ZDHHC13, CNR2, BCL2, DRD1, DUSP1, PTGS2, GSR, ABAT, BAX, HAAO, QPRT, NOS3, E2F1, ND3, MBP, CAT, ADD1, FAN1, RNF4, ADGB, SH3BP2, SIRT1, REST, RGS12, MSANTD1, TP53, ATXN1, PDE10A, ATXN3, CASP6, GABPA, IGF1, SNCA, SOD1, JPH3, EPO, TGM2, SIGMAR1, GRK4, TBP, IL6, GRIN2B, HTT-AS, APOE, ALB, BDNF, HAP1, AR, CRP, DRD2, DNM1L, FXN, GFAP, SLC6A4, GRIK2, CREBBP, HSF1, CTNNB1, GAPDH, SIRT2, ACE, TNF, DNAJB6, EIF4E, ZNF141, PENK, OPN1LW, PTH, PAG1, IGFALS, CDK5, ATM, CSF2, MAPK1, PCBP4, MAPT, SLC1A2, NEFL, SMUG1, C9orf72, HSPA4, IFNL3, HIP1, NEAT1, FGF23, HCRT, SOST, GRM5, IL1B, LAMC2, HDAC4, SETDB1, NTRK2, IL10, TAC1, CASP3, PPARG, KMO, CALB1, ATXN2, PPP1R2C, GRIN2A, F8A1, DAPK2, LINC01672, TLR4, HDAC9, F8A3, ADORA2A, F8A2, DENR, HSP90AA1, MSH3, AKT1, SQSTM1, VEGFA, MSH2, PON1, PTX3, CRMP1, SIRT3, UBB, IL12B, UTRN, H2AX, HAMP, ACTB, ATF6, CXCL8, IL12A, GCG, FOXO3, TAL1, SLC18A2, ANGPT1, LY6E, IDO1, FUS, SCLY, KRT7, CCL5, MLH1, ATXN7, HIPK3, HDAC1, OPTN, SST, PPP1R11, TSHZ1, SRSF6, AGER, APP, STAT3, GPT, ACBD3, CCL2, BCL11B, FOXO1, CDKL1, TCERG1, UCHL1, BRCA1, DLG4, CDK20, PDE4A, TARDBP, ABCB1, KCNH4, PIK3CA, PIK3CD, PIK3CG, NPEPPS, UBE3A, NUP43, KCNH8, CACNA1A, CKB, CHI3L1, VCP, RCOR1, PRL, VRK2, PROS1, NT5C2, PSMC6, CASP1, H3P30, TM7SF2, PIK3CB, ELK1, MTDH, EPHB2, HDAC3, PTPN5, TGM1, NRF1, BDNF-AS, FAP, HYPK, PRKCA, MAPK11, AHSG, ADA, MGP, PRKAB1, MCF2L, KHDRBS1, MAP3K5, RGS2, SHBG, FOXP1, MFAP1, MOK, CXCR6, P4HB, PVALB, MAP2, DCTN4, ADCYAP1, TPPP, PHGDH, LGALS3, NPY2R, ALPP, TREM2, RAB11A, LRP2, SLC1A1, NGFR, NGF, PRNP, ALOX5, EIF2AK2, NTF4, PRKAA1, MMP2, MTHFR, ACP3, TUSC2, NCAM1, PYCARD, RASD2, CYP46A1, S100A12, FAM193A, AGT, MRPS30, SGSM3, TNFRSF11B, NUP62, REG3A, REN, SERPINE1, ADRA1A, PSAT1, UBQLN1, RXRA, PRKAA2, PDAP1, BECN1, FIS1, IFNL4, MRC1, NF2, PLAG1, AGO2, PIN1, PAPOLA, ASAP1, KCNIP3, ADRA2B, CCHCR1, ASAP2, CALB2, SLC2A1, DECR1, TNNI3, SLCO6A1, ATN1, TIMP2, LPAR2, TIMP1, EDNRA, EGF, EGR1, GRIN3A, EPHA3, UBXN11, TGFB1, TFRC, FCGR3A, FCGR3B, FEN1, FGF9, FGFR3, FRAXE, NR5A1, KALRN, SELENBP1, MSTN, MFN2, BRS3, TRPC5, GLO1, RLS1, CASP2, CASP8, CBS, VWF, CD28, MIR155, KL, ADIPOQ, MIR132, VDR, MIR10B, GPR52, ENHO, GSTK1, MIR34A, CP, TSPO, UBC, TYMS, TWIST1, CCN2, USP12, CUX1, CX3CR1, TTR, METRN, HTR1A, IAPP, ACKR3, KLK3, STIM2, IFNG, KIDINS220, HMOX1, APRT, HP, TOMM40, GTF2H1, SOD2, HSPD1, MEG3, ZBTB16, ATF7IP, APEX1, APAF1, MTPAP, HACE1, IFNA2, GSK3B, GPR42, ACE2, SPHK1, ITPR3, IFT57, SSTR4, NGB, ATG7, IER3, SPON2, HOMER1, CPQ, GDF15, ATF5, NLRP1, LIN7A, TUBB4B, TRIP10, SPTLC1, RPH3A, UBD, GSTO1, AHSA1, NREP, CD163, CCT2, CAP1, SORBS1, KLF4, HAND1, MLXIP, GRAP2, CIB1, PRMT5, APLN, SEMA3A, CERS1, PSIP1, PDIA6, CDK5R1, WDR5, ARFGEF2, BCL10, SOCS3, WWP1, IMMT, WASHC5, NR1H3, SV2B, SV2A, SBNO2, BTRC, CHEK2, CCL27, PNKP, BCAR1, APC2, MGLL, BAG3, MACROH2A1, CCL4L2, HDAC6, SGPL1, LZTS3, GABBR2, CLOCK, CPLX2, HACD1, DNAJA2, PSME3, KEAP1, NAT2, SV2C, MARCHF8, IL34, HJV, PDIK1L, ERFE, ZDHHC15, OXER1, PTCRA, SCAMP5, GPRC6A, EHMT1, STH, IPMK, GPX6, MRGPRX1, OR10A4, GOLGA8G, RAB7B, MCIDAS, CFAP54, GPR151, PPARGC1B, CD200R1, ASRGL1, TET1, UBXN6, SLC25A28, MAGT1, EVA1A, CYSTM1, DNAJC14, DCLK3, FOXP2, OPN4, NLRP3, CARD16, MRGPRX3, MRGPRX4, GSTO2, OSR1, NPSR1, CCL4L1, CIMT, POU5F1P3, POU5F1P4, MIR421, MIR549A, MIR615, CASC8, PSS, ZGLP1, MIR942, TIMM23, MIR1247, ECT, TUNAR, TMX2-CTNND1, MIR4488, GDNF-AS1, CBSL, LINC02605, MT1IP, MIR486-1, MIR106A, MIR146B, MIR122, MIR128-1, MIR146A, MIR150, MIR200A, MIR200C, MIR21, MIR214, MIR22, MIR222, MIR26B, MIR27A, MIR302A, MIR34B, VN1R17P, GPR166P, MIR196B, PANK2, RTL10, TBC1D9, GIT1, NSG1, NAAA, IL37, DISC1, PDLIM3, HPGDS, HTRA2, SLCO1B3, FLVCR1, MTHFSD, SETD2, DROSHA, MYLIP, UBQLN2, PACSIN1, SLC40A1, CHCHD2, AADAT, SIGLEC7, MLH3, AKAP8L, FGF21, ACSBG1, RRS1, PHLPP1, CRTC1, DICER1, ABCB10, BRD4, LPAR3, ARFIP2, IL17RA, QPCT, CHRDL2, RNF19A, SOSTDC1, NGDN, ATRNL1, POLDIP2, HSPA14, UBR5, NCKIPSD, CMTR2, GPRC5C, ZNF395, SPHK2, UBQLN4, SLC12A9, S100A14, SLC12A5, SORCS2, CFAP97, GBA2, HES4, CTDSP1, LGR6, PAPPA2, SLC39A8, LIN7B, ZMAT3, HDAC8, PRPF40A, SIRT6, GPRC5D, NUB1, TNFRSF6B, HDL3, S1PR5, IMMTP1, DDIT4, UGT1A1, TMEM106B, TMED9, AHI1, TUG1, ATG16L1, MAP1S, SBNO1, ATAD3A, NAT10, FBXW7, GHRL, CXCL12, RIPK2, DRD5, GATA4, GC, GH1, GIP, GJA1, GLP1R, GPR3, GPX4, GPX7, GRN, GRIK5, GRIN1, GRINA, GRM2, CXCL3, GYS1, GZMB, HCLS1, HDAC2, GAD2, GABRA2, XRCC6, F13B, DUSP2, E2F2, EMP1, ERCC6, ERN1, EZH1, F11, F13A1, FABP4, FSHMD1A, PTK2B, FBN1, FGF2, FGF13, FGFR2, FLNA, FMR1, MTOR, HIF1A, UBE2K, HLA-C, LBP, IL18, ITGA2B, JAG2, KCNA1, KCNA5, KCNA6, KDR, KPNA1, LBR, IL13, LCN2, LIMK1, LMNA, LNPEP, LPA, LPL, LTB, SMAD3, IL17A, IL9, HLA-DPB1, TNC, HMGB1, HNF4A, HPCA, HRES1, DNAJB2, DNAJA1, HSPA8, DNAJB1, IDH1, IL7, IDUA, IFNA1, IFNA13, IKBKB, IL1A, IL2RB, IL4, IL4R, DTX1, DRD3, IRS2, DPYSL2, ATP2A2, ALDH7A1, ATRX, B2M, BAG1, BCHE, BCL2L1, TNFRSF17, BGLAP, BNIP3, C3, C5, C5AR1, CAD, CALD1, CAMK2A, CAST, CAV1, CD14, ATHS, ATF4, STS, ADCYAP1R1, ABCA1, ASIC1, ACHE, ACO1, ACO2, ACVR2B, ACVRL1, ADAM10, ADM, AQP9, ADORA2B, PARP1, ABCD1, ALPI, ANGPT2, ANK1, ANXA3, XIAP, CD34, CD40, CD47, DCT, CSH2, CTAA1, CTNND1, CYBB, CYP3A4, DAB2, DAXX, DBH, DDIT3, CSF1R, DHCR24, DHFR, DLG1, DLG3, DMD, DNAH6, DNASE1, DPP6, CSH1, CSE1L, CDK9, CNTN1, CDKN1A, CDKN1B, CDKN2A, CDX2, CETP, CHAT, CHRM1, CLCN1, COL4A2, MAPK14, COL11A2, COMT, KLF6, ATF2, CRH, CRK, CRYAB, CS, MBL2, MC1R, MCL1, MECP2, SLCO2A1, SLPI, SUMO3, SUMO2, SNAP25, SNCB, SNCG, SORL1, SOX2, SOX4, SP1, SPN, SPP1, SPTBN2, SRI, STAT5A, STAT5B, STATH, SUPT4H1, SLC12A2, SLC12A1, SLC9A5, MAP2K4, RPS6KA1, RPS6KB1, RPS19, RRAS, SORT1, SCN4A, CCL4, SELENOP, SGCA, SLC9A1, SGK1, SH3GL3, SKIL, SKP1, SLC1A3, SLC1A6, SLC2A4, SLC6A3, SYN1, TAF4, TARBP2, ULK1, AIMP2, COIL, MIA, KDM5C, KDM5D, BAP1, FZD4, LOH19CR1, CUL1, RAB7A, DGKE, BLZF1, PIAS1, KHSRP, PSMG1, HSD17B6, AOC3, PDE5A, ST8SIA4, XPC, TCF3, TRPC1, TFAM, TGM3, TH, NKX2-1, CLDN5, TNFRSF1B, TRAF6, TRP-AGG2-6, TRPC4, XBP1, TXNRD1, SUMO1, UCP1, UCP2, KDM6A, VCL, VIP, VIPR2, ROS1, ROCK1, RNASE4, NFATC4, MTRR, MUTYH, PPP1R12A, NAIP, NDUFA1, NEFH, NEK1, NEUROD1, NNAT, MTNR1A, NOS1, NOS2, PNP, NPC1, NPM1, NPPA, NPY5R, SLC11A2, MTR, CYTB, NT5E, MSX1, MAP3K1, KITLG, MLF1, FOXO4, MMP14, MNAT1, CD200, MSN, MT1A, MT1X, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, NRGN, NTF3, RLN2, PTMA, MAPK8, MAPK10, MAP2K1, MAP2K2, MAP2K6, PSEN1, PSG5, PTBP1, PTMAP4, PKIB, PTPN13, RAC1, RAF1, RAN, RANBP2, RARB, RENBP, RET, PKN2, PPT1, OPA1, PCP4, P2RX7, PAEP, PAM, PRKN, PC, PCBP1, PCM1, PCNA, PDE1B, POU5F1, PDK3, PEX7, PF4, PGD, SERPINB6, PITX3, PLCG1, PMS2, H3P10
-
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Omim
In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
- Fumaric Aciduria Orphanet
-
Rapidly Involuting Congenital Hemangioma
Orphanet
In rare cases, moderate transient thrombocytopenia occurs in the first week of life: this should not be misdiagnosed as Kasabach-Merritt syndrome (see this term). Antenatal diagnosis Antenatal diagnosis of RICH during prenatal ultrasound follow-up is feasible in the 3rd trimester, and sometimes as early as the 20th week of pregnancy.
- Scapuloperoneal Spinal Muscular Atrophy Orphanet
-
Adult-Onset Myasthenia Gravis
Orphanet
Differential diagnosis Differential diagnoses include congenital MG, Lambert-Eaton myasthenic syndrome, ALS, mitochondrial myopathy, botulism and polymyositis (see these terms).
- Lamellar Ichthyosis Orphanet
-
Juvenile Myasthenia Gravis
Orphanet
Differential diagnosis Congenital myasthenic syndrome (CMS; see this term) should be considered in case of seronegativity.
-
Harlequin Ichthyosis
Orphanet
Later in life, the differential diagnosis includes congenital ichthyosiform erythroderma (CIE), lethal restrictive dermopathy, infantile systemic hyalinosis, and Neu-Laxova syndrome (see these terms). Antenatal diagnosis Prenatal diagnosis is mandatory and consists in DNA analysis of amniocentesis and chorion villus sampling materials, rather than fetal skin biopsies.ABCA12, TGM1, ALOX12B, ALOXE3, CST6, PIGA, PRSS8, MIR210, EPO, GFAP, KCNJ11, TNF, VIM, TYRP1, TNFRSF1B, SOX10, SYP, PROM1, SLC6A4, RELA, RBM3, BECN1, ABCA4, NOG, ADIPOQ, P4HB, ABCG2, ABCB6, TXNIP, TBC1D9, PADI1, NT5C3A, NEUROG2, PDIA2, NLRP3, CD200R1, MIR17, MIAT, ABCB1, NFE2L2, NRAS, EPAS1, JAG1, ANXA2, B2M, BCL2, BDNF, CALB1, CAPN1, CD38, CD44, CSF2, CTNNB1, CTSD, NQO1, DLG4, ERN1, NPTX1, FCER2, FGF2, FGFR1, FGFR2, GABPA, HLA-A, HMGB1, HSPA5, IL6, IL10, LAMC2, MGMT, MNAT1, GRK2, H3C9P
-
Erythrokeratoderma Variabilis Progressiva
Orphanet
Differential diagnosis Differential diagnosis includes other diseases with erythematous and hyperkeratotic lesions such as KID syndrome, keratoderma hereditarium mutilans with ichthyosis, pityriasis rubra pilaris and psoriasis.
-
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis
Orphanet
Differential diagnosis Differential diagnosis includes Bartter syndrome, autosomal dominant hypocalcemia, Dent disease, hereditary hypophosphatemic rickets with hypercalciuria, distal renal tubular acidosis and other tubular disorders causing early nephrocalcinosis (like primary hyperoxaluria) (see these terms).
-
Cricopharyngeal Spasm
Wikipedia
These spasms are frequently misunderstood by the patient to be cancer due to the 'lump in the throat' feeling ( Globus pharyngis ) that is symptomatic of this syndrome. Cricopharyngeal spasm is an uncomfortable but harmless and temporary disorder.
-
Dihydropteridine Reductase Deficiency
Orphanet
Differential diagnosis Differential diagnosis includes classical phenylketonuria, other causes of BH4 deficiencies (e.g. 6-Pyruvoyl-tetrahydropterin synthase deficiency, GTP cyclohydrolase I deficiency; see these terms), prenatal infections, Aicardi-Goutieres syndrome, infantile parkinsonism (e.g. dopamine transporter or tyrosine hydroxylase deficiency), and disorders affecting the white matter (e.g. neuronal ceroid lipofucsinosis, gangliosidosis, Alexander disease) (see these terms).
-
Ketosis-Prone Diabetes
Wikipedia
.; Hampe, C. S.; Maldonado, M. (2008). "Syndromes of ketosis-prone diabetes mellitus" .PAX4, INS, HLA-DRB1, CAT, CD69, PRKCQ, CCL20, SLC11A1, STAT3, ABCC8, HNF1A, TNF, TYK2, AIFM1, SH2B3, CLEC16A, PTPN22, FGF21, IL19, IL20, SLC29A3, BACH2, C1QTNF6, GLIS3, IL27, NOS3, NOS1, CASP12, IFNG, KCNJ11, CRP, HLA-DQA1, HLA-DQB1, HP, HSD11B2, IGF1, DDIT3, CP, CHRM2, IL2RA, IL6, IL10, ITPR3, CTSH, NEUROD1, IGF2, GCG, FCGR3B, FCGR3A, NEUROG3, G6PD, SLC30A10, GAD2, GLUL, RBM45, SLC30A8, SREBF1
-
Allergic Bronchopulmonary Aspergillosis
Orphanet
Differential diagnosis Differential diagnosis includes severe asthma with fungal sensitization, newly diagnosed cystic fibrosis, tuberculosis, infectious pneumonia (especially during exacerbations) and other causes of eosinophilic pneumonia like Churg-Strauss syndrome (see this term), and bronchocentric granulomatosis.
-
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Orphanet
Primary liver tumors and Pepper syndrome (hepatic metastases of neuroblastoma) may be evoked but easily ruled out through clinical and ultrasound data.
-
Deafness, Autosomal Recessive 93
Omim
Subsequent sequencing of the CABP2 gene in 24 Belgian and Dutch probands with moderate to severe hearing loss revealed no mutations, and no CABP2 mutations were found in 2 Usher syndrome (see 276900) families who had genotypes compatible with linkage to the DFNB93 locus.
-
Leiner's Disease
Wikipedia
Male and female infants are affected equally. [1] Treatment [ edit ] Hospitalization for the diseased person is suggested because of the controlled environment because it may prevent nutritional deficiencies and skin infections. [1] A decrease in severity of symptoms usually happens after a few weeks when treated [2] redness and scaliness usually do not recur. [1] In 10 percent of cases, the result of uncontrolled infections or severe electrolyte loss may be fatal. [1] Epidemiology [ edit ] The cause of this disease is unknown; some infants may have a severe case, others may have immunodeficiency. [1] See also [ edit ] Medicine portal List of cutaneous conditions Staphylococcal scalded skin syndrome References [ edit ] ^ a b c d e f g h i Thoene, MD; Jess, G (1995).
-
Lymphatogenous Metastasis
Wikipedia
Retrieved 2016-02-13 . v t e Tumors of the female urogenital system Adnexa Ovaries Glandular and epithelial / surface epithelial- stromal tumor CMS: Ovarian serous cystadenoma Mucinous cystadenoma Cystadenocarcinoma Papillary serous cystadenocarcinoma Krukenberg tumor Endometrioid tumor Clear-cell ovarian carcinoma Brenner tumour Sex cord–gonadal stromal Leydig cell tumour Sertoli cell tumour Sertoli–Leydig cell tumour Thecoma Granulosa cell tumour Luteoma Sex cord tumour with annular tubules Germ cell Dysgerminoma Nongerminomatous Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma / Struma ovarii Choriocarcinoma Fibroma Meigs' syndrome Fallopian tube Adenomatoid tumor Uterus Myometrium Uterine fibroids/leiomyoma Leiomyosarcoma Adenomyoma Endometrium Endometrioid tumor Uterine papillary serous carcinoma Endometrial intraepithelial neoplasia Uterine clear-cell carcinoma Cervix Cervical intraepithelial neoplasia Clear-cell carcinoma SCC Glassy cell carcinoma Villoglandular adenocarcinoma Placenta Choriocarcinoma Gestational trophoblastic disease General Uterine sarcoma Mixed Müllerian tumor Vagina Squamous-cell carcinoma of the vagina Botryoid rhabdomyosarcoma Clear-cell adenocarcinoma of the vagina Vaginal intraepithelial neoplasia Vaginal cysts Vulva SCC Melanoma Papillary hidradenoma Extramammary Paget's disease Vulvar intraepithelial neoplasia Bartholin gland carcinoma
-
Proboscis (Anomaly)
Wikipedia
Please help improve it to make it understandable to non-experts , without removing the technical details. ( May 2012 ) ( Learn how and when to remove this template message ) Proboscis in Patau syndrome . Cyclopia (a single median eye) is associated with arrhinia (absence of the nose) and proboscis formation above the eye.