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Irritant Contact Dermatitis
Wikipedia
. ^ [1] ^ http://www.wsiat.on.ca/english/mlo/allergic.htm ^ Wiley Interscience External links [ edit ] Classification D ICD - 10 : L24 ICD - 9-CM : 692 MeSH : D017453 SNOMED CT : 110979008 v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji
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Distal Hereditary Motor Neuronopathies
Wikipedia
PMID 16769861 . 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
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Sarcoma Botryoides
Wikipedia
External links [ edit ] humpath.com #12369 Classification D ICD-O : 8910/3 MeSH : D018233 DiseasesDB : 1557 SNOMED CT : 404052009 v t e Connective / soft tissue tumors and sarcomas Not otherwise specified Soft-tissue sarcoma Desmoplastic small-round-cell tumor Connective tissue neoplasm Fibromatous Fibroma / fibrosarcoma : Dermatofibrosarcoma protuberans Desmoplastic fibroma Fibroma / fibromatosis : Aggressive infantile fibromatosis Aponeurotic fibroma Collagenous fibroma Diffuse infantile fibromatosis Familial myxovascular fibromas Fibroma of tendon sheath Fibromatosis colli Infantile digital fibromatosis Juvenile hyaline fibromatosis Plantar fibromatosis Pleomorphic fibroma Oral submucous fibrosis Histiocytoma / histiocytic sarcoma : Benign fibrous histiocytoma Malignant fibrous histiocytoma Atypical fibroxanthoma Solitary fibrous tumor Myxomatous Myxoma / myxosarcoma Cutaneous myxoma Superficial acral fibromyxoma Angiomyxoma Ossifying fibromyxoid tumour Fibroepithelial Brenner tumour Fibroadenoma Phyllodes tumor Synovial -like Synovial sarcoma Clear-cell sarcoma Lipomatous Lipoma / liposarcoma Myelolipoma Myxoid liposarcoma PEComa Angiomyolipoma Chondroid lipoma Intradermal spindle cell lipoma Pleomorphic lipoma Lipoblastomatosis Spindle cell lipoma Hibernoma Myomatous general: Myoma / myosarcoma smooth muscle : Leiomyoma / leiomyosarcoma skeletal muscle : Rhabdomyoma / rhabdomyosarcoma : Embryonal rhabdomyosarcoma Sarcoma botryoides Alveolar rhabdomyosarcoma Leiomyoma Angioleiomyoma Angiolipoleiomyoma Genital leiomyoma Leiomyosarcoma Multiple cutaneous and uterine leiomyomatosis syndrome Multiple cutaneous leiomyoma Neural fibrolipoma Solitary cutaneous leiomyoma STUMP Complex mixed and stromal Adenomyoma Pleomorphic adenoma Mixed Müllerian tumor Mesoblastic nephroma Wilms' tumor Malignant rhabdoid tumour Clear-cell sarcoma of the kidney Hepatoblastoma Pancreatoblastoma Carcinosarcoma Mesothelial Mesothelioma Adenomatoid tumor 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
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Sponastrime Dysplasia
Wikipedia
It is confirmed by sequencing the TONSL gene. [ citation needed ] Differential diagnosis [ edit ] Short limbed dwarfism syndrome in association with immunodeficiency. [ citation needed ] Treatment [ edit ] There is no specific treatment for this condition. ... J Med Genet 65: 94 only 1996 ^ Slaney SF, Hall CM, Atherton DJ, Winter RM (1999) A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia.
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Familial Dilated Cardiomyopathy
Medlineplus
However, dilated cardiomyopathy can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic and are caused by mutations in other genes.LMNA, TMPO, SLC22A5, DMD, ADRB1, TNNT2, TTN, MYH7, ACTC1, TNNI3, CTNNB1, NPPB, EGFR, CD36, MYH6, NKX2-5, NPPA, RENBP, PSEN1, CPT2, HFE, PCCB, SDHA, PSEN2, FAS, SOD2, ITGB1, RAF1, CSRNP1, RAC1, PCCA, ADRB2, ALMS1, FASN, AXIN2, TCF7L2, NR3C2, PNPLA2, SIK1, ABRA, UCP1, SHBG, ATM, CSF3, WDR12, GPX1, MMUT, FASLG, MMACHC, GBE1, DOT1L, MYBPC3, TUBB, HAND2, PLN, BAG3, ESR1, TGFB1, RBM20, HAND2-AS1, ERBB2, CACNB4, SCN5A, TP53, MGAM, GATA4, ACE, ACTB, DES, TPM1, CSRP3, TNF, VEGFA, NFE2L2, TNNC1, NLRP3, PGR, PIK3CA, GABPA, HLA-DRB1, SGCD, TBX20, SMUG1, TIMP1, HLA-DQB1, RBM45, GSK3B, HLA-DQA1, MUC2, MARCKSL1, AR, IL1B, MMP9, IL6, TAZ, SRF, MST1, BCL2, REN, MIR21, CASP3, PIK3CB, PIK3CD, PIK3CG, FLNC, ACE2, PTEN, MYPN, GJA1, EDN1, FOXO1, HIF1A, CASR, AKT1, VCL, HSPB7, SIRT3, LGALS3, MMP1, MYC, CCND1, AGT, STAT3, CCN2, TLR4, IL2RA, MIR499A, IGF1, PECAM1, ADIPOQ, MIAT, EPHB2, FN1, KIT, VIM, GAPDH, POSTN, ANKRD1, CDH1, ROS1, SIRT1, OBSCN, FSD1, FGF21, FSD1L, ZBTB17, NOS3, NOTCH1, CD59, PRKAA1, FOXP3, SULT1E1, MAPK1, IL10, CASZ1, MAPK3, DSP, ISG20, PRKAA2, SLC2A4, SLC2A1, PRKAB1, SPP1, EDNRA, HAND1, TNNI3K, PKP2, IL17A, CXADR, ISL1, PRKG1, SERPINE1, CHPT1, HLA-C, PPP2CA, LY75, PPARA, MYOZ2, COX2, MYL3, PRKD1, HRC, FOXP1, PON1, LDB3, KDR, MAOA, IL1RN, CXCL8, IL1A, SMAD4, MMP2, PDLIM3, MMP14, DNAJB1, PDE3A, PTGS2, NUS1P3, PTPRC, MAPK8, SYNE1, CTNNA3, NUS1, SOD1, CTH, DNAJA3, LRRC10, CPT1A, SYK, CRYAB, MAPK14, CTLA4, MIRLET7B, CTRL, APLN, MIR671, DNAJB1P1, DBT, MIR675, TBX5, BGLAP, HDAC3, TIMP2, MIR214, KL, RUNX3, TM7SF2, CD68, TIMP3, CDKN2A, LMOD2, THBS1, CALR, CHI3L1, GDF15, VPS51, MIRLET7I, DNAH8, CAT, NR1H3, CAP2, ACTA2, NRG1, ADM, RRM2, PDPN, GRK2, MTOR, MYOCD, TXNRD2, MIR208B, FBXO32, JAG1, CCL2, NEBL, ANGPT2, EYA4, ENO1, ANGPT1, ST3GAL4, EDNRB, TNFRSF6B, TCAP, PROM1, LTBP4, DDAH2, PRSS12, SETD1B, PLEKHM2, SRRM2, ELP1, NPTXR, KLF4, SOCS3, PIWIL1, IL1RL1, ESYT1, SQSTM1, IL18R1, TIMELESS, CCNB2, DLK1, MKNK1, LILRB1, NLRP1, NCOA6, KCNQ1OT1, ATP6AP2, TSHZ1, SPRY1, YAP1, ADAMTS8, DDAH1, SMC2, PDLIM5, NAMPT, MYL12A, KHDRBS1, CELF1, CORIN, MORF4, NES, PPARGC1A, EBI3, ABCC9, KDM2A, VASH1, AIM2, ATF6, RBM39, KMT2B, MMRN1, HDAC4, PPP1R13L, BMS1, HDAC6, DOLK, DUSP12, RASSF1, WDHD1, RB1CC1, MFN2, NR1H4, ABO, ACKR3, DAPK2, MIR126, MALAT1, IL31, C4orf3, MIRLET7C, MIR106A, MIR106B, MIR10B, MIR132, SLC35B2, MIR139, MIR144, MIR146A, MIR155, MIR15B, MIR17, MIR185, GSTK1, NEAT1, MIR200B, PPM1K, SLCO6A1, PPARGC1B, GATA5, SERPINA12, ZNF418, IL23R, PLB1, BTNL9, IL27, AGR3, XIRP1, DDX53, ADAMTS18, MLKL, PRSS55, RBM24, MIR186, MIR200C, NUP62, LINC01672, MIR639, MIR646, MIR92B, MIR454, MIR216B, TIMM23, MIR3908, LUCAT1, MIR636, ADAMTS9-AS2, LY75-CD302, MIR5571, SCHLAP1, ZASP, MTCO2P12, ORI6, MIR638, MIR551B, MIR203A, MIR30C2, MIR208A, MIR22, MIR223, MIR23A, MIR25, MIR27A, MIR30C1, MIR320A, POU5F1P4, EIF2AK4, MIR133B, MIR424, MIR451A, MIR497, POU5F1P3, CRNDE, DNAJC19, ACVR1C, XIRP2, TRPM7, CHCHD2, DCTN4, PIPOX, SCARA3, IL17D, SOX18, DGCR8, PIWIL2, IL22, PNPO, ASXL2, STAP2, ERBIN, SULF2, MYDGF, BTNL2, INSIG2, NOX4, TMEM150A, PDCD4, IL17RA, PRPF6, TNFAIP8, TXN2, ITGB1BP2, HAVCR1, CACYBP, PCDH17, DUOX2, RBMS3, TOR2A, DLL1, RGCC, DROSHA, NOP53, EFEMP2, PNO1, JPH2, RHOJ, MYLK3, TMPRSS13, HOPX, MAK16, SPZ1, KDM2B, COX4I2, LMLN, MTDH, TRIB3, SFXN1, MYL12B, IL17F, RLN3, TPH2, HSPB6, MYOM3, SOX7, ADAM33, FHOD3, ADAMTS20, SUGP1, GATAD1, RHOU, KMT2C, MYOZ1, TRPV4, NIF3L1, PRDM16, NOD2, IFIH1, FKRP, VTCN1, LIN28A, HDAC11, MINDY3, EOMES, RNASE3, FXR1, IL2, ECE1, ELANE, ELK3, ELN, EMD, EPHB1, EPO, ESRRB, F3, FABP4, FABP3, FANCC, FAT1, FKTN, FGFR1, E2F6, DUSP5, DUSP1, DAG1, CTSL, CYBB, CYP1A2, CYP2E1, CYP11B2, CYP19A1, ECI1, DSG2, DECR1, DLG1, DNMT1, DNMT3B, DNTT, ATN1, FHL2, FOXG1, FOS, HPRT1, HLA-DPA1, HLA-DPB1, HLA-DQB2, HLA-G, HMOX1, HOXA10, HSD17B2, HHEX, HSF1, HSPA4, HSPA9, HSP90AA1, IDH1, IFNB1, HIVEP1, HGF, FRZB, GHSR, FUT3, FYB1, GAB1, LRRC32, GATA6, GCH1, CBLIF, HDAC1, GCLM, GNAO1, GOT2, GPX3, GSTP1, GTF2H1, CTSB, CST6, CSH2, ATP2A2, APOA1, APOE, KLK3, ARG1, ATF1, ATP2A1, ALDH7A1, NUDT2, AXL, BCL6, BCL9, BDH1, CEACAM1, BMI1, APC, ANXA2, BRCA1, APLNR, ACTN2, ADAM10, PLIN2, ADORA2A, ADRB3, AGTR1, AHR, SLC25A6, AHSG, AKT2, AMPD1, ANPEP, SLC25A4, SLC25A5, BMP2, BRCA2, CSH1, CNR1, CHRM3, ERCC8, CLU, CLIC2, CMD1B, CNN1, COL5A1, CTSC, COL5A2, COL11A1, COMP, COX4I1, COX8A, CRP, CHRM2, CFL2, TSPO, CASP1, CA8, CA9, CACNA1C, CACNB2, CALM3, CAPN2, CAV3, CDKN1B, CCND2, CD34, CD40, CD69, CDH5, CDK4, IGF1R, IL4, NCOA4, IL4R, RYR2, S100A1, S100A2, S100A4, S100A6, S100B, SCD, SCN2B, SDC1, SDC4, CXCL12, SDHB, SFRP1, SLC5A1, SLC5A2, ACACA, TRIM27, RET, PRKCE, POU5F1, PPARG, PPP1R1A, SRGN, PRG2, PRKCD, MAPK7, RBP4, PTBP1, PTPN11, PXN, RASA1, RASGRF1, RB1, SLC6A2, SLC22A3, SNAI2, XIST, UCP2, UGT8, VASP, VDAC1, VDR, WNT5A, XK, CRISP2, YY1, ZYX, CXCR4, PLA2G7, TFEB, ARHGEF5, TWIST1, TNFRSF1B, SMARCA4, TEK, SOX2, TRIM21, ADAM17, TCF4, TRBV20OR9-2, TEAD1, TFAP2A, TNFRSF1A, TGFB2, TGM2, TIE1, TK2, TMOD1, CLDN5, PLIN1, PIK3R1, PHB, TACSTD2, LMNB1, LMO7, LOX, LRP6, LTBP2, LUM, SMAD2, LHCGR, SMAD3, MAS1, MBL2, MDH1, MDM2, MECP2, LIPE, LEP, MEF2C, JARID2, IL7R, CXCR2, IL13, IDO1, IRF1, IRF5, KCNJ5, LCN2, KCNJ8, KCNJ12, KNG1, KRT14, LAG3, LAMP2, MEF2A, MAP3K5, PGM1, OSM, NEK2, NFKB1, NODAL, NOTCH4, NPR2, OPA1, PA2G4, MYLK, PAX6, PDCD1, PDE1C, PDE2A, PDK1, SERPINF1, NCAM1, MYBPC2, MGAT1, MMP13, KITLG, MICE, MKI67, MME, MMP3, MMP8, MPI, MUC5AC, MRC1, MSMB, MT3, CYTB, MUC1, MUC4, H3P10
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Omim
Heterozygous mutation in the SLC25A4 gene can also cause autosomal dominant mitochondrial DNA depletion syndrome-12A (MTDPS12A; 617184), and homozygous mutation in the SLC25A4 gene causes autosomal recessive mitochondrial DNA depletion syndrome-12B (MTDPS12B; 615418).
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Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Omim
The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. ... In addition to tumoral calcinosis and hyperphosphatemia, the children showed hyperostosis of diaphyses of long bones of the leg. The authors suggested that the syndrome of hyperostosis and hyperphosphatemia reported by Mikati et al. (1981) was fundamentally the same disorder despite the lack of tumoral calcinosis. ... Ichikawa et al. (2010) reported 4 unrelated patients with hyperostosis-hyperphosphatemia syndrome/tumoral calcinosis. One child, born of first-degree cousins from Sri Lanka, presented with painful left lower leg swelling which was found to be hyperostosis of the tibia with circumferential endosteal and periosteal bone formation; there was evidence of infection. ... In 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome, Frishberg et al. (2005) identified homozygosity for a mutation in the GALNT3 gene (601756.0001). ... One patient had a diagnosis of tumoral calcinosis, 1 hyperostosis-hyperphosphatemia syndrome, and 2 had diagnosis of both disorders.
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X-Linked Agammaglobulinemia
Gene_reviews
Note: (1) Because approximately 3%-5% of individuals with a BTK pathogenic variant have large deletions that include all or part of BTK and the closely linked gene TIMM8A (also called DDP ) resulting in XLA and deafness-dystonia-optic neuropathy syndrome (DDON; also called Mohr-Tranebjærg syndrome) [Richter et al 2001, Sedivá et al 2007], additional testing with chromosomal microarray analysis (CMA) may be warranted. (2) For individuals with clinical features of XLA and DDON, consider CMA testing first. ... Individuals with these multigene deletions have XLA and deafness-dystonia-optic neuropathy syndrome (DDON; also called Mohr-Tranebjærg syndrome). ... Low concentrations of serum immunoglobulins can be seen in a variety of conditions, including the following X-linked disorders: X-linked hyper IgM syndrome (also known as CD40 ligand deficiency) X-linked severe combined immunodeficiency X-linked lymphoproliferative disease However, individuals with these disorders usually have relatively normal or elevated numbers of B cells.BTK, PIK3R1, IL6, CD19, PLEK, TLR9, ACP3, SRC, TNF, TLR4, IL4, TNFSF13B, TLR8, CD40, NT5E, TNFRSF17, CCL22, RBMS1, DNALI1, PTPRC, TLR2, UCHL1, TNFSF13, CDR3, AKAP17A, SOCS1, PIK3CD, CD83, TNFRSF13B, HPGDS, BLNK, TLR7, RNF216, NLRP3, TNFRSF13C, TMEM132D, PIK3CG, CD99, PIK3CB, PIK3CA, CD14, CD80, TNFRSF8, CD40LG, CD79A, CR1, CYBB, TIMM8A, FCER2, FCGR3A, FCGR3B, FOXM1, FLG, GAST, GLA, GRP, IFNA1, IFNA13, IGLL1, IL1B, IL2RG, IL10, ITIH4, ITK, LAG3, LBR, ALB, NCF1
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Monoclonal Gammopathy Of Undetermined Significance
Wikipedia
Differential diagnosis [ edit ] Several other illnesses can present with a monoclonal gammopathy , and the monoclonal protein may be the first discovery before a formal diagnosis is made: Multiple myeloma Smouldering multiple myeloma AIDS Chronic lymphocytic leukemia Non-Hodgkin lymphoma , particularly Splenic marginal zone lymphoma [8] and Lymphoplasmocytic lymphoma Hepatitis C Connective tissue disease such as lupus [9] Immunosuppression following organ transplantation Waldenström macroglobulinemia Guillain–Barré syndrome [10] Tempi syndrome [11] Management [ edit ] The protein electrophoresis test should be repeated annually, and if there is any concern for a rise in the level of monoclonal protein, then prompt referral to a hematologist is required. ... S2CID 13218864 . ^ Sykes, David B.; Schroyens, Wilfried; O'Connell, Casey (2011). "TEMPI Syndrome – A Novel Multisystem Disease" . ... External links [ edit ] Classification D ICD - 10 : D47.2 ICD - 9-CM : 273.1 ICD-O : 9765/1 MeSH : D008998 DiseasesDB : 1341 External resources eMedicine : med/1495 v t e Immunoproliferative immunoglobulin disorders PCDs / PP Plasmacytoma Multiple myeloma ( Plasma cell leukemia ) MGUS IgM ( Macroglobulinemia / Waldenström's macroglobulinemia ) heavy chain ( Heavy chain disease ) light chain ( Primary amyloidosis ) Other hypergammaglobulinemia Cryoglobulinemia 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 leukemiasTNFRSF13B, DNAH11, USP8P1, ULK4, HLA-B, SDC1, ELL2, TOM1, MAG, IL1B, IGH, NCAM1, MYOM2, CDKN2A, MYD88, HGF, CD19, IL6, STOML2, CDKN2B, CXCR4, VEGFA, IL1A, TP53, TNF, MYC, PTPRC, TTR, NRAS, PTPN6, FGF2, SOCS1, ADIPOQ, RASSF1, FOXP3, KRT20, MALAT1, HAS1, H3P10, CKS1B, CTNNB1, CD38, CCND1, MS4A1, ALB, DAPK1, GPNMB, ANP32B, COLEC10, TNFSF13B, PNMA2, NES, LILRB1, SMR3B, LRPPRC, PRSS21, ADAMTS13, PTP4A3, SERPING1, PADI2, KLRK1, BNIP3, DKK1, KDM1A, SEMA3A, CANX, RAD50, PLXNB2, TP73, CD40, VWF, NSD2, XPO1, CD34, CDR3, NR0B2, OFD1, CASK, TNFSF11, CD27, TNKS, TNFSF13, CCND3, MSC, KL, RUNX2, TBPL1, BCL2L1, SETBP1, POT1, ALKBH3, GSTK1, AKT2, MIRLET7E, MIR203A, MIR21, MIR214, MIR27B, MIR34A, MIR340, MIR342, SSX2B, MIR744, CD24, AKT1, MIR1246, KLRC4-KLRK1, PCAT1, LOC102723407, LOC102724971, RICTOR, CLEC12A, CDH1, SLCO6A1, FOXP1, IGHV3OR16-7, IGHV3-69-1, CD274, BCL2, SOST, EVL, WWOX, ALK, EGLN1, NLRP2, SLC12A9, TP73-AS1, AICDA, PREX1, IL21, IGAN1, FOXP2, EGLN3, CD47, TIMP3, DCC, IGL, HSPA5, IGSF3, IFNA2, IGF1, IGF2, IGFBP2, CCN1, CSNK1A1, IGHG3, CR2, TGFBI, COX8A, CCR7, IL6R, IL6ST, CXCL8, IL10, ITGAX, JAG2, JAK2, HRAS, CTLA4, CFH, CYLD, DKC1, EGFR, EPO, EPOR, ESR1, FAP, FCGR3A, DAP, FGFR3, FLT3, FRA16D, MTOR, FUT4, GLI1, GNA12, CXCR3, GPT, GRN, GSTP1, KIT, KRAS, LCK, PTCH1, PARP1, PVR, RALA, RPA1, CCL20, CX3CL1, CDH2, SFRP1, SFRP5, SSX1, SSX2, SSX5, SSX4, STAT3, AURKA, SYK, TRBV20OR9-2, TERF1, TERF2, CDKN1A, PFDN5, LIG3, ENPP1, LPL, LTA, LY9, CCR4, DNAJB9, MET, MGMT, MLH1, MME, MMP2, MRE11, RCBTB2, NBN, CDKN3, NEDD8, NM, PNP, NPC1, CDKN2C, ACTB
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Osteopenia
Wikipedia
Bone density loss occurs in both men and women [6] Ethnicity: European and Asian people have increased risk Sex: women are at higher risk, particularly those with early menopause Family history: low bone mass in the family increases risk Modifiable / behavioral [ edit ] Tobacco use Alcohol use Inactivity – particularly lack of weight-bearing or resistance activities [7] [8] [9] Insufficient caloric intake - osteopenia can be connected to female athlete triad syndrome , which occurs in female athletes as a combination of energy deficiency, menstrual irregularities, and low bone mineral density. [10] Low nutrient diet (particularly calcium, Vitamin D) Other diseases [ edit ] Celiac disease, via poor absorption of calcium and vitamin D [11] [12] Hyperthyroidism Anorexia nervosa [13] Medications [ edit ] Steroid Anticonvulsants Screening and diagnosis [ edit ] The ISCD (International Society for Clinical Densitometry) and the National Osteoporosis Foundation recommend that older adults (women over 65 and men over 70) and adults with risk factors for low bone mass, or previous fragility fractures, undergo DXA testing. [14] The DXA ( dual X-ray absorptiometry ) scan uses a form of X-ray technology, and offers accurate bone mineral density results with low radiation exposure. [15] [16] The United States Preventive Task Force recommends osteoporosis screening for women with increased risk over 65 and states there is insufficient evidence to support screening men. [17] The main purpose of screening is to prevent fractures. ... External links [ edit ] Classification D ICD - 10 : M85.8 ICD - 9-CM : 733.90 MeSH : D001851 DiseasesDB : 29870 SNOMED CT : 312894000 v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner diseaseESR1, IGF1, MMP2, CTC1, PHOSPHO1, ALPL, DHCR7, SLC20A1, ANKRD11, LRP2, SLC5A6, GC, KCNMA1, CYP2R1, CYP27A1, PPARG, CYP19A1, LRP5, COL1A1, NOTCH2, FSHR, FBN1, CAV1, SLC20A2, STAT3, B3GAT3, GNPTAB, EFL1, CREB3L1, COL1A2, LMNA, ADCY10, SBDS, GORAB, PROP1, PLS3, PTPN11, GTF2I, PYCR1, GBA, NRAS, TMEM67, TRPV6, WDR11, NPR2, POU1F1, PROK2, PRKACA, FKBP10, PRKAR1A, TNFRSF11B, OTX2, SLC39A13, IARS2, P4HB, NUP107, MRPS22, PDGFRB, PEX6, CHD7, TONSL, PMM2, PLOD2, CDH23, TUBB6, SLC39A8, LIMK1, LHX4, STN1, DCAF17, HSD17B4, KRAS, KISS1, PIGY, COX4I2, KCNJ1, ANOS1, IL17A, KISS1R, IL6, SPRY4, IL1B, LIFR, ALG13, NFATC1, HRAS, RSPRY1, NAGA, IL1A, MTAP, P3H1, NSD1, GZF1, MMP14, HPGD, MMP1, MGAT2, MEN1, MECP2, CDC73, FAT4, XYLT2, SMARCD2, TMEM38B, HESX1, B4GALT7, BMP15, SLC7A7, AIP, BAZ1B, EXOC6B, PLOD3, FGF17, DPM2, SLC9A3R1, SPIDR, TNFRSF11A, GPAA1, EED, ATP6V0A2, DCHS1, TNFSF11, GNPAT, GCM2, COG1, NSMF, PLEKHM1, CRTAP, TCIRG1, ZMPSTE24, IRX5, AGPAT2, FARSB, MAFB, SEC24D, AFG3L2, HS6ST1, ADAMTSL2, GTF2IRD1, ADAMTS2, CHST3, POLR3A, EIF2AK3, CRIPT, RECQL4, USP9X, RNF113A, FKBP14, RFC2, SMARCAL1, SKI, GEMIN4, PDE11A, SOST, MLXIPL, MBTPS2, RPL11, PIGT, SLC34A1, ALDH18A1, PURA, PTH1R, PTH, PSMB8, PSAP, PRLR, RNF125, SLC12A1, SMPD1, PHGDH, TRPS1, CLIP2, BEST1, SLC17A5, VDR, UROS, SLC35A2, BSCL2, TBL2, TNF, SOX3, TCF4, TAF1, TACR3, TAC3, PSMC3IP, PSAT1, STAT1, SRP54, MAGEL2, MST1, NR5A1, SH3PXD2B, DUSP6, FLG, MPLKIP, FOS, BGLAP, CCND1, AVP, DNAJC21, FUT8, GATA1, PROKR2, GFI1, ATP7A, CAVIN1, COL7A1, BMP2, FGFR2, FGFR1, ENG, ERCC2, ERCC3, ANO5, SERPINH1, RUNX2, EXT2, ELN, FGF8, SGMS2, ELANE, FBN2, SCARB2, BTF3P11, BRAF, UNC80, TAPT1, CTSK, DDOST, GNRHR, GNAS, GTF2E2, GLI2, GNRH1, DMD, FLG-AS1, RNU4ATAC, GTF2H5, GPR35, CTNNB1, IFITM5, ANTXR2, DKK1, APOE, KL, CCL2, GH1, MBL2, SH3BP2, MAPK1, MBL3P, TLR2, TRPV1, P2RX7, DMP1, CALCA, FGF23, TRAP, IL10, CBL, BRD2, TRAF6, LEP, FGF21, AIMP2, RNF19A, POLDIP2, CD6, MMP9, PTHLH, ACP5, AHSA1, NFE2L2, MAPK14, CD38, IL11, IL1RN, ACE, CRK, GABPA, IFNG, AKT1, GRAP2, ATP6V1H, MIR21, MIR146A, EPHB2, CSF1, SLIT3, MIR29A, SERPINE1, PRL, FBLIM1, SIRT6, GOPC, HAMP, IL23A, CD40LG, SPP1, CSF3, GJA1, MGP, MYD88, HSPD1, PTRH1, CALCR, AR, SATB2, SIRT1, NLRP3, ADIPOQ, AGT, APP, TSC1, KIF3A, S1PR2, MSC, IL32, ATF4, RPS6KA3, P2RX5-TAX1BP3, RELA, CRP, ALB, ATM, PPARGC1A, EMCN, AHR, CRYGD, TNFSF15, TNFSF13B, ABCB6, ANP32B, ACTB, ABO, PTGS2, HSPA14, CCL3, P2RX6, TNFRSF25, UCP1, CASR, WNT1, AGO2, TGFB1, ZFP36, TFRC, CST3, GDF5, NCOA1, SYT1, CD40, TNKS, SRY, CNR2, SRC, TNFSF13, VSX1, BMP4, BMI1, CCN6, SIRT3, SLA, SHBG, P2RX2, FOXP3, TRAF3, RGN, MIR451A, SEMA3A, ZNF384, NOD2, PIK3CD, PIK3CB, PIK3CA, SERPINA1, SMAD1, MTHFR, PECAM1, MYC, ASXL1, IKBKB, GIP, FNDC5, PAX5, EPO, HSD11B2, NPY, P2RY2, CD109, P2RY1, P2RX5, P2RX4, FSHB, P2RX3, P2RX1, IL15, LGALS8, TRPV4, LGALS3, PIK3CG, MSTN, HIF1A, GSK3B, DNER, CD46, CYP27B1, IL33, HMOX1, HSD11B1, NR3C1, HPD, DDIT3, FCGR2B, FGF2, WNK1, GORASP1, PLCG2, PTK2B, F2RL1, MFGE8, HBZ, GGTLC4P, SMUG1, CARD14, MIR885, TPX2, DOK3, BRD4, RIOX1, TSG1, AGBL2, GGTLC5P, ANGPTL2, CCR2, GGTLC3, RHBDF2, IGSF23, RBFOX2, WLS, DOCK11, GGT2, TREM1, DCSTAMP, ARMC9, COMMD3-BMI1, ADAMTS5, SCIN, DUSP14, IMMT, PGR-AS1, C1QTNF4, CYSLTR1, MYSM1, CBSL, TOB2, PERCC1, GNA13, KHDRBS1, LRP1-AS, RSAD2, SEMA4D, MTCO2P12, DOCK7, LINC01672, RAB3GAP1, MRGPRF, TET1, PIFO, CILK1, VSIG4, PPP1R2C, WNT10A, MIR497, MIR543, WIF1, RNF146, WDHD1, QRFPR, ASCC2, FNDC1, MIR1234, TRIM63, ORAI1, MIR503, ERAL1, NUP62, SLC13A5, NGLY1, PLEKHO1, DCTN4, MIR155, ADIPOR1, TXLNG, DEFB103B, MIR185, MIR188, MIR29B1, MIR19B1, IL22, IL20, MIR203A, TEX11, MIR214, MIR23B, ERVW-1, CRBN, RSPO1, LIMS2, WNT16, EGLN1, MIR106B, MIR130A, TLR9, IMMTP1, MIR132, IL17D, P4HTM, RPS19BP1, MIR100, MSTO1, KLF13, MIR140, STING1, FBXW7, LGR4, SLC39A4, MIR296, IL27, GPBAR1, PRMT5, PIKFYVE, DEFB103A, MIR151A, MIR325, MIR335, MIR376C, GLIS3, MIR384, MIR10B, ATP6V0D2, DEPTOR, MIR496, P2RY12, AGXT2, ASF1A, SLC39A6, VKORC1, IL17RA, HAVCR1, ACAD8, SND1, KCNMB3, MIR29B2, MIR30B, MIR31, NCOA5, MIR33A, SNX10, MPEG1, MIR34A, IL21, HIVEP3, PYCARD, SETD2, OSTM1, IL17B, IL37, ACE2, TGIF2, NLRP12, NAT2, YAP1, HBA2, FFAR1, FFAR2, GRN, CXCL2, GTF2H1, HBA1, HFE, AKR1A1, HGF, HLA-B, NR4A1, HOXC6, HP, PRMT1, CXCR3, GHR, GGT1, GGCX, KAT2A, FTH1, MTOR, FN1, FOXO3, FHL2, FGFR3, FCGR3A, FASN, FABP4, MECOM, ETV6, ESRRG, HES1, HSPA1A, HSPA1B, LCN2, MIF, CIITA, MFAP2, MET, MAOA, SMAD7, SMAD6, SMAD3, LRP6, LRP4, LIMS1, LGALS1, LEPR, LDLR, KRT8, HSPA2, IRF4, IL18, IL13, IL9, CXCL8, IL7, IL4, IL3, IGFBP1, IGFALS, IFRD1, IDH2, ICAM1, HSPA6, ESR2, ERBB2, EPAS1, BMP3, CBS, RUNX3, RUNX1, CASP8, CASP3, CASP1, CAMP, C4BPA, TSPO, ZFP36L1, BRCA2, BRCA1, BMP7, BMP6, PRDM1, ENTPD1, BGN, BCL6, ART4, STS, ARNTL, FAS, AMELX, AMBP, ALDH2, AHSG, AGTR1, AGER, ADORA2B, ACR, CD28, CD44, EGR2, CTLA4, EGFR, S1PR1, DYRK1A, DUSP2, TSC22D3, DPAGT1, DOK1, DNMT3B, DLX3, DCN, CYP11A1, CYP2B6, CUX1, CTNS, CSF2, CD74, CSF1R, CRX, CREM, CREBBP, CNR1, ACKR2, CCR3, CCR1, CHRNA4, CHRM3, CHAD, CFTR, CDX2, CDKN1A, CXCL9, MAP3K10, MMP8, TXN, SOCS1, PIP5K1B, TAM, FOSL1, ARHGEF5, TFEB, SEMA3B, CXCR4, WNT10B, WNT5A, WNT3, VIP, VIM, TYROBP, HSP90B2P, DLK1, TP53, TNXB, TNFRSF1B, KLF10, THY1, THBD, THAS, TGM2, TGFBR1, PRDX2, TAT, SYK, SULT2A1, SOX9, IRS2, TRIM24, SLC6A4, PTGES, STUB1, KCNMB2, PRMT3, EBI3, EDIL3, DPP3, ABI1, NR1H4, RB1CC1, KEAP1, PIEZO1, HDAC4, SART3, CLOCK, IL27RA, IL18R1, PPIG, MAPKAPK2, XPR1, SLC33A1, IL1RL1, USP6, PSTPIP2, DOK2, RHBDL1, SOCS3, TIMELESS, SQSTM1, SPHK1, SOCS2, ABCA1, SLC5A2, MMP13, OXA1L, PRKAA1, PPARA, PON1, PRRX1, PLG, PLCG1, PKD2, PKD1, PIK3R2, PIK3R1, PDK4, PCNA, PAH, PRDX1, CLDN11, PRKAB1, OSM, OAS3, NT5E, CCN3, NOTCH3, NOTCH1, NOS3, NOS2, NFKB2, NCK1, COX2, MST1R, MPST, MPO, PRKAA2, PRKG2, SLC2A1, RGS12, PMEL, SGK1, SFRP5, CXCL12, SCT, SCN8A, S100A12, S100A9, S100A8, S100A4, RRBP1, RPS19, RPL29, RNU1-4, REN, MAPK8, RCN1, RBP4, KDM5A, RARRES2, PTPRA, PTPN2, PTN, PTEN, PYY, PSG5, PRNP, MAP2K7, MAP2K6, MAP2K1, LINC02605
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Hypertensive Emergency
Wikipedia
External links [ edit ] Classification D ICD - 10 : I10 ICD - 9-CM : 401 - 405 MeSH : D006974 DiseasesDB : 7788 External resources MedlinePlus : 000491 eMedicine : article/241640 Patient UK : Hypertensive emergency v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotension
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Sclerocornea
Wikipedia
External links [ edit ] Classification D ICD - 10 : Q13.3 OMIM : 269400 181700 MeSH : C565209 External resources Orphanet : 91490 Congenital Clouding of the Cornea - eMedicine; by Noah S Scheinfeld, MD, JD, FAAD and Benjamin D Freilich, MD, FACS v t e Congenital malformations and deformations of eyes Adnexa Eyelid Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia ( Cystic eyeball , Cryptophthalmos ) Microphthalmia Lens Ectopia lentis Aphakia Iris Aniridia Anterior segment Axenfeld–Rieger syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma ( Coloboma of optic nerve ) Hydrophthalmos Norrie disease
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Immunodeficiency With Defective Leukocyte And Lymphocyte Function And With Response To Histamine-1 Antagonist
Omim
Jung et al. (1983) also noted that Mawhinney et al. (1980) had described a patient with hyper-IgE syndrome (147060), recurrent abscesses, and a chemotactic abnormality whose chemotactic defect and clinical disorder improved with treatment with cimetidine, an H2 blocker.
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Short Stature And Facioauriculothoracic Malformations
Omim
Because of phenotypic overlap with Noonan syndrome (163950), Megarbane et al. (2004) searched for mutations in exons 2, 3, 4, 7, 8, 12, and 13 of the PTPN11 gene (176876), but found none.
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Spinocerebellar Ataxia, X-Linked 3
Omim
No report of a precisely similar disorder was discovered. See also Arts syndrome (301835), which has similar features.
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Hypomandibular Faciocranial Dysostosis
Omim
Description Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001).
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Varicose Veins
Omim
Varicose veins are frequent in some genetic disorders such as the Marfan syndrome. Osler recognized the heritability of varicose veins: 'Varicose veins are the result of an improper selection of grandparents' (Aphorism 335 in Bean and Bean, 1950).VHL, MGP, TIMP1, TNC, DPT, KCNN3, FOXC2, CASZ1, GLG1, GJC2, GP1BB, KIF5A, HLA-A, LBH, FLT4, CNGB3, HIRA, SLC29A3, RREB1, SMAD3, NFATC2, NOTCH3, PIK3CA, PRKAR1B, PIEZO1, SEC24C, RASA1, FIBP, SLC12A2, SLC12A3, TBX1, VEGFC, G6PC3, HDAC7, UFD1, ARVCF, COL3A1, EBF1, CLCNKB, JMJD1C, EPHB4, COMT, LINC02549, LINC01152, ROCR, MMP9, VEGFA, SNCA, BLOC1S2, SYP, SLC17A6, NLRP3, ELN, MMP3, MMP2, MMP1, MTHFR, HIF1A, SLC18A3, TGFB1, STS, CALCA, NPY, GFAP, MCF2L2, TAC1, CALB1, KDR, TIMP2, DBH, ROCK2, CYP4F2, CHST3, CLOCK, HOMER1, RBM14-RBM4, TNFSF11, GNG13, TRPV4, MFAP5, PORCN, VIM, EHMT1, EGLN3, DCLK3, PAPLN, FOXC2-AS1, USH2A, ZGLP1, PPARGC1A, MIR202, AKR1B10, TRPV2, DLL4, SLC17A8, PRLH, EXOSC3, PACSIN1, PYCARD, CBLN4, SLC32A1, TSACC, ADI1, CACYBP, RBM14, KANK2, TP53INP1, BACE2, SLC17A7, HEY2, SYNM, EXOC7, PRRT2, ERC1, PGP, MMRN1, MYOCD, ACHE, TRH, GJA1, F13B, FLT1, FN1, FOS, FOSB, GCG, GJA8, ESR1, GLP1R, GRM1, HCCS, HCRT, HTT, HFE, F2, EPAS1, TIMP3, CALR, ADM, JAG1, AKT1, RHOA, AVP, CALB2, CASP1, DSP, CAV2, CYP4A11, CYP19A1, DES, DLD, DOCK3, ICAM1, ITGB2, ITGB3, CCL2, PRKCA, PRKCB, PTGS2, ACP3, S100A10, S100A12, SELE, JUN, SLC6A3, SLC18A2, SPP1, SST, TH, THBD, PPARG, POU2F1, PLG, PEPD, OPRM1, NOS1, NGFR, NGF, MTR, COX2, MMP13, SMAD2, LIF, LGALS3BP, LAD1, JUND, JUNB, MTCO2P12
- Hypothyroidism, Congenital, Nongoitrous, 3 Omim
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Dermatoglyphics--Arch On Any Digit
Omim
The possible haptoglobin linkage is of special interest because of the suggested linkage of another dermatoglyphic syndrome ('ridges-off-the-end'; 125550) with haptoglobin.
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Retrognathism
Wikipedia
Retrognathism Other names Retrognathism A child with Treacher Collins syndrome showing microtia and retrognathism awaiting corrective surgery Specialty Medical genetics , dentistry Retrognathia is a type of malocclusion which refers to an abnormal posterior positioning of the maxilla [1] or mandible , [2] particularly the mandible, relative to the facial skeleton and soft tissues. [3] A retrognathic mandible is commonly referred to as an overbite , though this terminology is not used medically.PRRX1, ABAT, ITGA8, KAT6B, ORC6, DSTYK, POLR1A, SETBP1, AUTS2, TCTN3, PHGDH, FOXP1, INTU, ANKRD11, SLC25A24, PSAT1, NSDHL, GMNN, POLR1D, RSRC1, OTUD6B, BCL11A, DGCR8, SUZ12, EMC1, CEP152, FRMPD4, AP3D1, CRLF1, TRIP11, ZNHIT3, ADAMTS3, ADAMTS2, POLR1C, PREPL, CEP135, ZEB2, KPTN, ZBTB24, ARNT2, DGCR2, MAMLD1, SF3B4, SPEG, COG5, FARS2, POLR3A, PRMT7, PUS7, NDUFB11, IBA57, COG7, DIS3L2, MPLKIP, AMER1, CCBE1, SIX5, LGI4, ASXL1, ARID2, HYLS1, UBE3B, NALCN, UNC80, RSPO2, CTU2, KIF7, MYMK, GTF2H5, ALG11, CRPPA, ATPAF2, TMEM107, MAGEL2, MRPS22, BNC2, TMEM70, ASXL2, CCDC88A, MBD5, CENPJ, HDAC8, ZC4H2, KLHL7, FAM20C, LAS1L, HYMAI, WDR35, PIEZO2, SMOC1, NSD1, FTO, FAT4, ALG9, CDT1, EED, LTBP4, ACTA1, FUT8, ERCC3, ERF, EYA1, EZH2, FANCB, FBN1, FHL1, FOXE3, FOXE1, FZD2, CDC45, GBA, GLE1, GTF2E2, HBA1, HBA2, HCCS, HSD17B4, IGBP1, IGF1R, ERCC2, EP300, ELN, EDN1, ACTA2, ACTB, ACTG1, BIN1, ARCN1, ASPH, ATP6V1A, CDC6, COL1A1, COL1A2, COL2A1, COL3A1, COL13A1, COX7B, CREBBP, CTBP1, DHCR24, DVL1, DVL3, IGF2, LBR, LMNA, TGFBR1, SIX1, SKI, SLC3A1, SLC6A9, ABCC8, TBX1, TCOF1, TGFB2, TGFB3, TGFBR2, LOX, TPM2, TRIO, TTN, WNT5A, RNF113A, MOGS, MFAP5, DGCR6, ESS2, RYR1, RPS19, RPL5, NFIX, SMAD3, MAT2A, MECP2, MGAT2, MTM1, MYH11, MYLK, RBBP8, NBN, NUP88, ORC1, ORC4, PCNT, PLAGL1, PMM2, PRKG1, RARB, RNU4ATAC, ATR, MYH8, MYH3