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Elastoma
Orphanet
Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.
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Capsulitis
Wikipedia
Inflammation of a joint capsule Capsulitis Joint capsule(articular capsule) Specialty Orthopedic In anatomy , capsulitis is inflammation of a capsule . [1] Types include: Adhesive capsulitis of shoulder Plica syndrome , which is an inflammation of the articular capsule of the knee joint See also [ edit ] Articular capsule References [ edit ] ^ " two/000016880 " at Dorland's Medical Dictionary This article about a disease of musculoskeletal and connective tissue is a stub .
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Interventricular Septum Aneurysm
Orphanet
Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum.
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High Isolated Anorectal Malformation
Orphanet
High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis).
- Ghosal Hematodiaphyseal Dysplasia Orphanet
- Congenital Subglottic Stenosis Orphanet
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Monosomy 22
Orphanet
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears).
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Familial Infantile Myoclonic Epilepsy
Orphanet
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.
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Dk1-Cdg
Orphanet
All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate.
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Cocaine Intoxication
Orphanet
Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.
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Premature Chromatid Separation Trait
Omim
Mehes (1978) investigated early centromere separation in 12 normal children, 14 patients with Down syndrome (190685), and 12 parents of children with autosomal trisomies. ... The phenomenon was considered to be different from the PCD of the X chromosome, and from the centromere splitting in cells of patients with Roberts syndrome (268300). Bajnoczky and Mehes (1988) described 'out-of phase' centromere separation of the relevant chromosome, either early separation or late separation, in parents of offspring with trisomy 18 and trisomy 21. ... The parents of 2 infants born with the homozygous PCS trait, or MVA syndrome, underwent chromosomal analysis. ... Molecular Genetics In a patient with MVA syndrome who was compound heterozygous for mutations in the BUB1B gene, Hanks et al. (2004) found that one mutation was inherited from the father and the other from the mother; both parents had PCS (see 602860.0009).
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Hemolytic Uremic Syndrome (Hus)
Mayo_clinic
Overview Hemolytic uremic syndrome (HUS) is a condition that can occur when the small blood vessels in your kidneys become damaged and inflamed.
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Post-Vasectomy Pain Syndrome
Mayo_clinic
Vasectomy has a low risk of problems, but some men develop post-vasectomy pain syndrome (PVPS). PVPS involves chronic pain in one or both testicles that is still present three months after the procedure.
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Persistent Post-Concussive Symptoms (Post-Concussion Syndrome)
Mayo_clinic
Overview Persistent post-concussive symptoms — also called post-concussion syndrome — occurs when symptoms of a mild traumatic brain injury last longer than expected after an injury.
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Generalized Epilepsy With Febrile Seizures Plus, Type 2
Omim
., 2005), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 2009). Dravet syndrome (607208), or severe myoclonic epilepsy of infancy, is the most severe phenotype associated with SCN1A mutations. ... SCN1A mutations were found in 21.2% of patients with GEFS+ and in 75% of patients with Dravet syndrome (607208) from the overall patient cohort. ... Thus, 2 patients had a phenotype reminiscent of Dravet syndrome, whereas the phenotype in the other 2 was more consistent with GEFS+2. ... Suls et al. (2010) noted that deletions involving SCN1A usually result in the much more severe Dravet syndrome, in which affected individuals cannot raise a family and thus do not transmit the mutation.
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Global Developmental Delay
Wikipedia
It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills , speech , cognitive skills, and social and emotional development. [1] There is usually a specific condition which causes this delay, such as Fragile X syndrome or other chromosomal abnormalities . ... Contents 1 Causes 2 Investigation 3 Management 4 References Causes [ edit ] Developmental delay can be caused by learning disabilities , in which case the delay can usually be overcome with time and support - such as with physiotherapists, occupational therapists, and speech and language therapists. [3] Other causes which may cause a permanent delay in development include genetic disorders such as Down syndrome and Fragile X , childhood infections such as meningitis or encephalitis, and metabolic disorders such as hypothyroidism . ... The use of toxic substances in pregnancy, particularly alcohol, can lead to developmental delay if they affect the neurological development of the fetus, such as in fetal alcohol syndrome . Even though there are many known causes of delay, some children will never receive a diagnosis. [4] Investigation [ edit ] Developmental monitoring is performed during wellness visits to check a child's development. [5] Health authorities encourage parents to monitor their child's development, the CDC's program "Learn the Signs. ... Specific gene testing is available for certain disorders such as Rett syndrome, although these are expensive tests which aren't widely available Selective metabolic investigations may be useful in the absence of other identifiable causes, and the specific tests done will depend on the presentation.SPTBN2, SLC2A1, IGF1R, COL4A1, SZT2, STAG2, GNB1, TRAF7, RAC1, TCF20, SOX4, APC2, KDM5C, KDM1A, KMT2E, ZMIZ1, SMARCC2, PPP2CA, ATN1, ACTL6B, CACNA1B, PIGP, BMP4, AP4S1, PNPO, GPAA1, TSEN15, DEGS1, DIAPH1, SLC25A12, KARS1, PHACTR1, ZBTB18, TRIT1, PIGQ, CHD3, P4HTM, GTPBP2, TAF1, TBC1D20, PIBF1, DHPS, PACS2, FCSK, STT3A, DDC, STT3B, ABAT, CACNA2D2, RARS1, SUZ12, PCGF2, UBTF, TMEM94, TRIM8, FRMPD4, RHOBTB2, LNPK, MAPK8IP3, PUS3, SPART, ZNF142, ALKBH8, CNOT1, TRPM3, TRMT1, BRSK2, VPS53, TRRAP, ZNF462, NBAS, NTNG2, AGO1, RNF13, SMARCD1, POLR2A, GLRA1, SUPT16H, PCYT2, ODC1, SNX27, RALA, KDM3B, OXR1, GABRA5, MN1, GABRA2, DLL1, VAMP2, TRAPPC12, ZNF335, NKAP, SLC5A6, WDR37, PIGU, NSF, GOT2, TMX2, KAT8, FBXW11, RAB11A, PNPT1, HK1, DDX6, CSDE1, UGP2, NFIB, CTNNA2, NBEA, FAM160B1, CDK8, PIGB, CACNA1E, POU3F3, LSS, PRR12, SCAMP5, INTS1, MAB21L1, NUDT2, CDH2, IQSEC1, TET3, PUM1, AP1B1, TKFC, LGI4, HNRNPR, AP2M1, CCDC47, GTF3C3, TAOK1, ACTL6A, FMR1, MECP2, CDKL5, PTEN, KCNJ11, WDR45, TRNT1, ARX, STXBP1, FOXG1, NAA10, YWHAE, DPH1, SLC13A5, SOX5, DYRK1A, DMD, UBE3A, PAFAH1B1, NSD1, PLP1, NGLY1, ASXL3, NALCN, GABRB3, SH2B1, TWIST1, PUF60, WWOX, KCNB1, AUTS2, CACNA1A, ANKRD11, PAX6, KAT6A, NSD2, KCNQ2, BCAP31, DICER1, GNAO1, ACTB, HNRNPU, PCDH19, SOX3, NDN, MED13L, ADSL, IQSEC2, TUBB2A, SMC1A, SATB2, USP9X, SHANK3, SCN8A, KMT2A, ARID1B, TENM3, FGFR3, MID1, TASP1, HRAS, KIF1A, EXOC6B, NR2F1, CTNNB1, CDC42, LIG4, SLC1A4, SLC9A6, MAGEL2, TCF4, TUBB3, LRP5, PDP1, DOCK3, BRCA2, EBF3, HERC2, CHRNA7, PNKP, SIM1, PPM1D, PIK3CA, KAT6B, ATAD3A, VARS1, SLC17A5, MTHFR, TBC1D24, ASH1L, GRIN1, SLC12A5, RARS2, OPHN1, KCNH1, GRIN2B, KCNQ1, MTO1, SMG9, FBXL4, KIF11, GRID2, NDUFA1, SDHD, NIPBL, DNAJC12, ABCC8, AHDC1, CAMTA1, ALDH6A1, VRK1, KCNQ3, GP1BB, PACS1, ZC4H2, FBXL3, NDST1, GRIN2D, HIVEP2, LEMD3, FTO, HECW2, VPS11, ALG9, MAG, SLC25A22, MDH2, HNRNPH2, MACF1, TBL1XR1, NKX2-1, MLYCD, TP53, TRPS1, INSR, SOX2, OCRL, TCF12, NAA15, RAB3GAP2, TBX1, SETD2, SON, SOS1, PGAP2, SLC35A2, NEDD4L, NTRK2, NF1, MEIS2, UPF3B, NFIA, PCDH15, PGAP1, GRIK2, GLS, PIK3CD, SPATA5, ARFGEF2, VPS13B, PMM2, POMT1, CLTC, AHI1, EBP, RPE65, AP1S2, PIK3R2, RAI1, KDM5B, TANGO2, CRX, CASK, CSNK2A1, BCOR, CTBP1, CUX1, CYP27A1, GLI3, DHCR7, MSMO1, CYB5R3, TWIST2, PEPD, DNM1, KPTN, DPYD, POLG, ARID2, CAD, CRBN, HDAC4, PTPN11, PHF21A, ACY1, PTCH1, LARP7, ADK, AKT1, KIF14, QARS1, AMMECR1, IYD, PRPS1, SCO2, DNM1L, MAP2K2, UPB1, ATG5, EIF2AK3, RAF1, PPP3CA, BCL11A, ATRX, UNC80, EFTUD2, GPHN, ASPM, BTD, CA2, C12orf57, PIGA, ECHS1, PAK1, UBE3B, FANCD2, ACSL4, BPTF, CWF19L1, SLC35C1, WDR73, DHX30, FOXRED1, KMT2D, PDHX, PARN, PIGO, TUSC3, EYA1, ALDH5A1, TUBA1A, MOGS, ZNF148, LRRC32, GATA4, EMC1, OTX2, ZIC1, OTC, POGZ, TRAPPC9, KDM6B, SLC25A46, FGFR2, EXTL3, CUL4B, TBCK, EFNB1, EEF1A2, SCN1A, B4GALT7, SCN2A, MARS2, COLQ, EXT2, EPRS1, SEPSECS, TBC1D7, TMEM216, PCLO, GEMIN4, SLC45A1, DUOX2, PCDH12, POLR1D, OSTM1, GMPPA, TIMMDC1, NDUFA13, GMPPB, DCPS, PAM16, NPHP3, GMNN, KCNK9, PSAT1, POMT2, RSRC1, ALG6, CCDC174, EXOSC3, PYCR2, CCDC22, DIMT1, KMT5B, SBDS, MMADHC, TPRKB, UBE2T, ASCC1, NFU1, CDON, IER3IP1, CYFIP2, NDUFAF4, INVS, ABHD5, RLIM, RDH11, AFF4, NIN, NDUFAF1, ZBTB11, TACO1, UQCRQ, B9D1, MECR, MRPS2, NSDHL, TUBGCP4, AARS1, RPS6KC1, MAD2L2, ZMYND11, KIF1C, PLK4, YME1L1, AP4B1, TBR1, GNB5, FARS2, CTCF, MTHFS, NPC2, SLC35A1, RNASEH2A, DEAF1, CIB2, WDR4, SDCCAG8, CPLX1, B4GAT1, PLPBP, CORO1A, IL1RAPL1, POLR3A, CIT, MID2, VAX1, PDE10A, TLK2, SPINK5, MAPRE2, CLP1, MAGED2, SRCAP, SEC23B, TUBB4A, MAN1B1, MICU1, GNE, AKT3, SLC12A6, MED12, MAFB, ARNT2, AP5Z1, WASHC5, FIG4, TECPR2, TELO2, SEC24D, RUSC2, KIAA0753, ZBTB24, HUWE1, USH1C, PQBP1, COQ7, WARS2, RXYLT1, KATNB1, TRAIP, STAG1, STUB1, CD96, CERT1, ALG3, SLC25A15, SLC25A13, LRPPRC, MKRN3-AS1, TSFM, MRPL3, TREX1, TINF2, CRB1, CIZ1, FTSJ1, AIPL1, NPAP1, FRRS1L, ORC6, PIGN, CDK20, ATP6V0A2, SLC39A14, HAAO, TGDS, ETHE1, SLC35A3, GPR161, TXN2, COG4, NDUFAF3, CNTNAP2, VPS33B, HIBCH, TRAF3IP1, KIFBP, TCTN3, WIPI2, C2CD3, PTPN23, AAR2, NECAP1, MMACHC, PARS2, SIN3A, SAMHD1, AP4E1, ADNP, EXOSC8, SIK3, ZNF292, CEP152, MAST1, NT5C2, RPIA, RAB18, RAB3GAP1, TRAK1, CEP164, MORC2, FASTKD2, CNKSR2, CHSY1, MRAS, COG2, MYT1L, TNIK, CLUAP1, SPG21, SPECC1L, CLASP1, WASHC4, RPGRIP1L, CUX2, NCAPD3, AGTPBP1, ZNF423, DDHD2, KIAA0556, PMPCA, CIC, ANKLE2, NFASC, WAC, LMBRD1, MBTPS2, TP53RK, CEP41, PIGS, ST7-AS2, PGAP3, TIMM50, GORAB, STRADA, MTSS2, NDUFAF2, RFT1, ATPAF2, C12orf65, TMEM67, LYRM7, ERI1, HS6ST2, LHX4, DOCK7, TUBGCP6, TUBA3E, NACC1, ATCAY, CHST14, WDR81, USH1G, METTL23, EARS2, MTFMT, TTC8, ISCA2, TRAPPC6B, ARL14EP, BORCS5, RAB39B, COX20, NUS1, FOXP4, SLC25A26, NLRP3, TOE1, CYP2U1, SLC46A1, ALG2, USP45, HIKESHI, TMEM107, PHF6, UTP23, POMK, FAR1, KIAA1109, RNASEH2C, MAGT1, BRIP1, CDCA7, ITCH, JAM3, C19orf12, TMEM47, LAS1L, MED25, ISCA1, CDT1, CLPB, LMAN2L, UQCC2, CCDC115, PIGY, COA8, COX14, SERAC1, TMEM87B, ATAD1, LINGO1, POMGNT2, MFSD2A, LMNB2, GPT2, GTPBP3, COX4I2, SLC9A7, KDM2B, FAM126A, COL25A1, NKX6-2, SLX4, COG8, GFM2, MICOS13, NDUFA11, B3GALT6, NHLRC2, HCN1, TUBB2B, ZNF81, ZFP57, KCNT2, RD3, FREM2, HEPHL1, NEXMIF, SLC6A19, NAT8L, TMEM240, FLG-AS1, SNORD115-1, MMAB, FAM149B1, SUMF1, WDR62, PIGW, NDUFS7, KIF7, DMBX1, SLC6A17, SNHG14, SCN1A-AS1, NPHP3-ACAD11, OCLN, RNU4ATAC, KLLN, PET100, SNORD116-1, PWRN1, UQCC3, CRPPA, D2HGDH, SNORD118, ALG11, DUOXA2, GTF2H5, GDF6, USP27X, BOLA3, KANSL1, TSEN54, CHAMP1, H19, CEP120, CKAP2L, SIK1, B3GALNT2, PWAR1, RDH12, B3GLCT, PTCHD1, AMER1, HGSNAT, NDUFAF6, VPS37A, MPLKIP, CD109, DNAJC21, NADK2, GLYCTK, DIS3L2, PROKR2, ESCO2, TMTC3, NAGS, ARL13B, NPHP4, MFSD8, SYT14, BRAT1, JMJD1C, HYLS1, TUBB, FLCN, ACSF3, TMEM92, POLR3H, ASXL1, GLIS3, BMPER, LCA5, MMAA, RNF168, SASS6, SLC2A10, SLC19A3, COASY, TMEM126B, CENPJ, SPATA7, KIAA0586, MCTP2, ERMARD, TBC1D23, CDK5RAP2, NUP133, WDR11, CCDC88A, POLR3B, IARS2, VAC14, FRMD4A, PEX26, NHP2, PIGV, OSGEP, FLVCR2, TMEM165, HDAC8, SCYL1, NDUFA12, SNX14, MCOLN1, SELENON, GJC2, NUP107, C12orf4, RPGRIP1, KNL1, HYMAI, COQ9, FAM20C, MFF, MCCC1, FMN2, TWNK, INPP5E, KCNQ5, ALG1, KLHL7, CHD7, POMGNT1, DHTKD1, NOP10, LZTFL1, NDUFB11, PUS7, TMCO1, PRMT7, GPR88, FGFRL1, TUBA8, INPP5K, RTEL1, SUFU, ZFR, MPC1, PTRH2, OTUD6B, PIGT, LIPT1, TMEM138, LARS1, CNNM2, DYM, SAMD9, FANCL, MAP11, ASXL2, ELP2, FANCI, SETD5, LINS1, RFWD3, WRAP53, SOBP, NDE1, PHIP, RMND1, TMEM70, MKS1, NCAPG2, NSUN2, PIGG, CC2D1A, KAT14, GATAD2B, KLHL15, NARS2, COLGALT1, USB1, MCPH1, SRD5A3, ROGDI, FAT4, EFL1, RNASEH2B, TCTN1, CEP97, CARS2, TMEM231, THOC6, GNPTAB, FKRP, MBOAT7, CCDC28B, NDUFAF5, ALG12, PALB2, SNIP1, SHROOM4, FBXO31, CEP63, WDR26, NUBPL, TARS2, ARMC9, FBXO11, TTI2, CEP290, CTC1, EDC3, PANK2, DHDDS, ZC3H14, UBA5, ALG13, TCTN2, CSPP1, CAMKMT, EHMT1, COLEC11, MRPS34, CPLANE1, RSRC2, BCORL1, TRAPPC11, ALX4, ELAC2, MPP4, KMT2C, NLRC4, SPTBN4, WDR19, EPG5, FANCM, ZSWIM6, DOCK6, TRMT5, CC2D2A, HACE1, ARHGAP31, COG6, KIDINS220, VIPAS39, PIEZO2, FAM111A, NXN, VPS33A, TMEM237, ACD, BCL11B, PLEKHG2, NMNAT1, ARV1, SIL1, IRF2BPL, MRPS14, P3H1, IFIH1, XYLT1, SLC39A8, MCCC2, CDH23, PRDM16, CXorf56, PTDSS1, RAB11B, PIEZO1, KIF5C, LHX1, LETM1, LBR, LAMP2, LAMB2, AFF3, KRAS, KIF22, KIF5B, TRNS1, KIF2A, KCNMA1, KCNJ13, KCNJ10, KCNJ1, KCNC3, KCNA2, KCNA1, LIPA, LMNA, LMNB1, LRP2, MTRR, MTR, ND3, ND2, ND1, ATP6, MPV17, MLLT1, MIPEP, MGP, MGAT2, MEFV, MCM4, MARS1, MAN2B1, SMAD4, LTC4S, IVD, ITPR1, ITPA, HLCS, HELLS, HTT, HCFC1, HCCS, HADHB, HADHA, HSD17B10, H3-3A, H1-4, GUCY2D, GYS2, BRF1, GTF2E2, GRM7, GRM1, GRIA4, GRIA3, MNX1, HMGB3, ITGB3, HNF4A, ITGA2B, ITGA2, IREB2, IPW, PDX1, INS, IMPDH1, IGF2, IDUA, IDH2, IARS1, HTC2, HSPD1, HSD17B4, HPRT1, HNRNPK, HNMT, TRNN, MMUT, GNAI3, PDHA1, PGK1, PEX14, PEX13, PEX12, PEX10, PEX6, PEX1, SLC26A4, PDE6D, MVK, PDE4D, PCYT1A, CHMP1A, PCNT, PCNA, PCK1, PCCB, PCCA, PGM3, PIGC, PIK3C2A, PLAGL1, MAP2K1, MAPK1, PRKD1, PRKAR1A, PRF1, PPT1, PPP2R5D, PPP2R1A, PPP1CB, PPM1B, POU3F4, POU1F1, POLA1, EXOSC9, PLG, PLEC, PLCB4, PC, PAX1, PAK3, NDUFS6, NDUFV1, NDUFS3, NDUFS2, NDUFS1, NDUFB10, NDUFB9, NDUFB8, NDUFB3, NDUFA10, NDUFA9, NDUFA6, NDUFA4, NDUFA2, NAGA, MYO7A, MYO5B, MYO5A, NDUFS4, NDUFS8, PAH, NDUFV2, PRDX1, P4HB, ORC4, ORC1, SIX6, OPA1, OGDH, DDR2, ROR2, NTRK1, NPHP1, NPC1, NOTCH3, NFKB2, NFE2L2, NEUROD2, NEK1, GP1BA, GM2A, PRODH, CAMK2A, CDH11, CDC6, CCND2, CBS, CBL, CAPN3, CAMK2G, CAMK2B, SLC25A20, CRKL, CACNA1D, CACNA1C, CA8, BUB1B, BUB1, BRAF, BRCA1, BMP2, CDK5, CDK6, CHD1, CHD2, CPS1, COX15, COX10, COX8A, COX7B, COX6B1, COMT, COL6A3, COL6A1, COL4A2, COL3A1, TPP1, CLIC2, CLCN4, AP1S1, LYST, CHN1, BCS1L, BCR, BBS2, ARG1, AQP2, APP, ANK1, AMPD2, AHCY, AGTR2, ADD3, ADAR, ACTG1, ACTA1, ACOX1, ACO2, ACAT2, ACADSB, ACADS, ACADM, ABCB7, ABCC6, ARL3, BBS1, STS, AVPR2, AUH, ATP7A, ATP6V1E1, ATP6V1A, ATP5F1D, ALDH7A1, ATP2B3, ATP1A3, ATP1A1, RERE, ASS1, ASPA, ASL, ASAH1, ARVCF, ARSL, CREBBP, CSTB, GLUD1, FLNA, GABRB1, GABRA1, FZD2, FUT8, FUCA1, MTOR, FRA16E, FLNB, FLII, NKX2-5, FLI1, FLG, FOXE1, FOXE3, FH, FGFR1, FGF12, GPC4, GABRB2, GABRD, GABRG2, GAD1, GLI2, GCLC, GPC3, GK, GJB2, B4GALT1, GFER, GDI1, GCK, GCH1, GCDH, GBA, GATM, GATA6, GAMT, GALE, GALC, FKTN, FBN1, FANCG, DVL3, DPAGT1, DNMT3B, DYNC1I2, DYNC1H1, DNA2, SARDH, DLG3, DLD, DLAT, DKC1, DHFR, DHCR24, DDX11, DDX3X, DDOST, DCC, DAG1, DVL1, EDN1, FANCF, EDNRB, FANCB, FANCE, FANCC, FANCA, EZH2, ERCC5, ERCC4, ERCC3, ERCC2, ERCC1, EP300, EML1, EIF2S3, MEGF8, CELSR2, EGF, PHC1, PROC, NFIX, PROP1, UCP2, TAF13, TALDO1, TBCD, TBCE, TBX2, HNF1B, CTDP1, TCOF1, AIFM1, SMC3, TERC, TERT, ASH2L, TFAP2B, TG, TGFB1, TSPAN7, TPI1, TPO, PLOD3, TRHR, TRIO, TSC1, TSC2, KYNU, TSHR, TTPA, TUBG1, TULP1, TAF6, TAF2, SYT1, SNRPN, TRIP12, TRIP13, SMARCA4, SMARCB1, SMARCE1, SMO, SMPD1, ADGRG1, COPB2, AIMP1, LRAT, LARGE1, SNAP25, SOX10, SYP, SOX11, SLC33A1, SPR, BUB3, SRP54, SSR4, STAT3, ELOVL4, STIM1, STX3, SUOX, SURF1, FIBP, HIRA, UFD1, SMARCA2, HERC1, PEX11B, LHX3, TNFRSF11A, AAAS, HMGA2, AP3B2, MKKS, CHAF1B, LZTR1, SYN3, MATN4, RBM10, LAGE3, ARID1A, ACOX2, CDC45, PLA2G6, LTBP4, OGT, CRADD, OFD1, PRSS12, PEX3, KCNAB2, IKBKG, CDK10, CDK13, EED, DCHS1, NUP214, ST7, SUCLG1, HESX1, CACNA1G, UMPS, KDM6A, SGPL1, ST3GAL5, EZR, VLDLR, SYNJ1, WFS1, WHCR, NELFA, SYNGAP1, WNT5A, XRCC2, SUCLA2, XRCC4, YY1, YWHAG, ZIC2, ZNF711, ZNF41, MKRN3, RNF113A, DPM2, ALMS1, PAX8, BRPF1, CCNK, TRIP4, AP4M1, ATXN7, MPDU1, RORB, SET, RORA, ARHGEF6, MED17, ROBO1, RET, SGSH, SHH, DPF2, ST3GAL3, STIL, RBBP8, TTC37, SIX1, SIX3, MED23, RAD51C, RAD51, SEC24C, SDHC, RPL10, SC5D, SCO1, SCN9A, TECR, PREPL, SCN3A, SDHA, PMPCB, SCN1B, SARS1, PIGL, NCOR1, RYR1, CLIP1, RREB1, RPS28, RPS6KA3, RPL35A, SDHB, IQCB1, PEX16, SKI, PSMD12, SLC6A8, SLC6A9, PURA, PLAA, PTS, IFT140, EIF4A3, PSPH, LONP1, SEMA3E, PSAP, SLC12A1, RELN, SLC16A1, SNAP29, SLC18A2, SLC25A1, ZNHIT3, SKIV2L, CEP104, ADAMTSL2, PYCR1, COG1, RAD21, SLC1A2, SLC2A2, QDPR, CEP135, SLC6A3, ALDH18A1, PEX5, PEX2, SLC3A1, CEP57, PEX19, RUBCN, SLC5A5, SLC6A1, POLR1C, NRXN1, FOXP1, ARSD, FOXP2, CHD8, BDNF, MEF2C, CMIP, FBN2, IGF1, MAPT, GRIN2A, POU3F2, MBD5, UROD, SETBP1, IFNG, PHGDH, HAX1, ZBTB20, PCDH8, PMP22, GLRB, CNTN6, CDKN2A, GABARAP, CSNK2B, FRAXA, TARDBP, RUNX1, KIF1B, ATP8A2, SLC4A4, FRAXE, PIGH, SIRT6, DRD3, PNP, QRICH1, ABCD1, MIR484, TUBGCP2, BAIAP2, BHLHA9, TNFRSF10C, CAT, PAPOLA, AVP, GREB1, MFN2, APOBEC3F, SUB1, CKAP4, CLCN7, SV2A, TUBGCP5, PAXBP1, H3P8, SGMS1, TOR1A, RPP14, RIPK1, ARID3A, MTCO2P12, BTG1, COPS2, RALGAPA1, AZIN2, KMT2B, ADGRB3, HDAC9, DLGAP2, DBX2, SLC9C2, TNFSF13, BANF1, CD28, ALDH1A3, NKAIN2, EIF2B2, MAGED1, NRG3, SGCE, RAB36, CCDC103, RTL1, MBD2, COL4A6, ERCC6L2, DNAJA3, MAD2L1BP, RSS, NRXN2, SH2B3, IRGM, CLCN3, CACUL1, PRICKLE1, CNTN4, GPBAR1, ABCB6, CNTF, HEXIM1, PAPSS1, DSG4, EDIL3, ARHGEF7, CP, PPP1R21, CAPN10, PIANP, FRY, AGO3, TAF1A, GADL1, CD38, APOE, DCR, CD44, DGKB, SLC6A5, SYNCRIP, CYP21A2, CTSL, NLRP5, CDH12, STK25, HBS1L, CDK5R1, CDKN1B, CRY2, CENPE, CBFA2T2, RAI2, CDK2AP2, UVRAG, CADPS2, NUFIP1, SNAI2, AS3MT, SLC16A2, VARS2, SALL4, MUC1, DISC1, NBN, HPGDS, RETN, SKP1, LAMTOR2, MEPCE, MRPS28, SHOX, SETMAR, NELL2, COX2, VCX, NGF, NLN, SPTBN1, KRT10, SPOCK1, SPAST, SPARC, SOX12, SOX9, TACSTD2, SMS, MAOA, LRRC4C, MAOB, KIF17, MBP, MC1R, MC4R, SACS, KEAP1, NHS, ABCB11, CEND1, RAC3, PIK3CB, PIK3CG, PIK3R1, PITX2, PPP1R12C, RBFOX1, SEPTIN5, UGT1A1, PVALB, POMC, DDX41, NANS, PTGS2, PTH, PSEN1, SF3B6, TTC19, ADPRS, CNOT2, THG1L, SMARCAL1, CXCL6, NTF3, CCL11, CCL2, NTM, OPCML, SCN7A, NLRP2, ATXN2, SERPINE1, S100A9, PAX2, RYR2, PDE1C, BRD2, RB1, KCNJ6, KCNJ3, KCNC1, FUT4, ELOF1, ZBED3, XIST, ZIC4, ZRANB3, WNT1, LRMDA, WDR87, FBXO28, GH1, GHRH, WARS1, VWF, TRPV1, GLUD2, VEGFA, GMDS, USP7, SEM1, CIAO3, NR5A1, TP63, KLF7, ADAMTS6, EPHA7, ERBB4, ESRRG, F5, FABP3, UBL7, PNPLA4, FOXC1, PARP10, CUBN, AFF2, FOLH1, CAPS2, KISS1R, PRL, GNB2, GOLGA2, GOLGA4, MMD, IDS, IFN1@, IL1B, IL2RA, IL6, DERL1, IL6R, CXCL8, PRRG4, ALG8, GSPT2, TBX5, ISG20, NBEAL1, ITGB2, CSMD1, HSPA4, TGFBR2, POFUT1, L2HGDH, GPD2, GRIK3, GRIK4, OPA3, UBE2A, PPP1R13B, NRSN2, RHOQ, HOXC@, HDAC2, NRG1, TOP2B, HEY2, THRA, HOXA13, HOXB@, H3P10
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Skeletal Fluorosis
Wikipedia
CS1 maint: multiple names: authors list ( link ) External links [ edit ] Classification D ICD - 10 : M85.1 ICD - 9-CM : 733.9 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 disease
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Pyomyositis
Wikipedia
External links [ edit ] Classification D ICD - 10 : M60.0 ICD - 9-CM : 040.81 , 728.0 MeSH : D052880 DiseasesDB : 29474 SNOMED CT : 65110003 External resources Orphanet : 764 v t e Proteobacteria -associated Gram-negative bacterial infections α Rickettsiales Rickettsiaceae / ( Rickettsioses ) Typhus Rickettsia typhi Murine typhus Rickettsia prowazekii Epidemic typhus , Brill–Zinsser disease , Flying squirrel typhus Spotted fever Tick-borne Rickettsia rickettsii Rocky Mountain spotted fever Rickettsia conorii Boutonneuse fever Rickettsia japonica Japanese spotted fever Rickettsia sibirica North Asian tick typhus Rickettsia australis Queensland tick typhus Rickettsia honei Flinders Island spotted fever Rickettsia africae African tick bite fever Rickettsia parkeri American tick bite fever Rickettsia aeschlimannii Rickettsia aeschlimannii infection Mite-borne Rickettsia akari Rickettsialpox Orientia tsutsugamushi Scrub typhus Flea-borne Rickettsia felis Flea-borne spotted fever Anaplasmataceae Ehrlichiosis : Anaplasma phagocytophilum Human granulocytic anaplasmosis , Anaplasmosis Ehrlichia chaffeensis Human monocytotropic ehrlichiosis Ehrlichia ewingii Ehrlichiosis ewingii infection Rhizobiales Brucellaceae Brucella abortus Brucellosis Bartonellaceae Bartonellosis : Bartonella henselae Cat-scratch disease Bartonella quintana Trench fever Either B. henselae or B. quintana Bacillary angiomatosis Bartonella bacilliformis Carrion's disease , Verruga peruana β Neisseriales M+ Neisseria meningitidis/meningococcus Meningococcal disease , Waterhouse–Friderichsen syndrome , Meningococcal septicaemia M− Neisseria gonorrhoeae/gonococcus Gonorrhea ungrouped: Eikenella corrodens / Kingella kingae HACEK Chromobacterium violaceum Chromobacteriosis infection Burkholderiales Burkholderia pseudomallei Melioidosis Burkholderia mallei Glanders Burkholderia cepacia complex Bordetella pertussis / Bordetella parapertussis Pertussis γ Enterobacteriales ( OX− ) Lac+ Klebsiella pneumoniae Rhinoscleroma , Pneumonia Klebsiella granulomatis Granuloma inguinale Klebsiella oxytoca Escherichia coli : Enterotoxigenic Enteroinvasive Enterohemorrhagic O157:H7 O104:H4 Hemolytic-uremic syndrome Enterobacter aerogenes / Enterobacter cloacae Slow/weak Serratia marcescens Serratia infection Citrobacter koseri / Citrobacter freundii Lac− H2S+ Salmonella enterica Typhoid fever , Paratyphoid fever , Salmonellosis H2S− Shigella dysenteriae / sonnei / flexneri / boydii Shigellosis , Bacillary dysentery Proteus mirabilis / Proteus vulgaris Yersinia pestis Plague / Bubonic plague Yersinia enterocolitica Yersiniosis Yersinia pseudotuberculosis Far East scarlet-like fever Pasteurellales Haemophilus : H. influenzae Haemophilus meningitis Brazilian purpuric fever H. ducreyi Chancroid H. parainfluenzae HACEK Pasteurella multocida Pasteurellosis Actinobacillus Actinobacillosis Aggregatibacter actinomycetemcomitans HACEK Legionellales Legionella pneumophila / Legionella longbeachae Legionnaires' disease Coxiella burnetii Q fever Thiotrichales Francisella tularensis Tularemia Vibrionaceae Vibrio cholerae Cholera Vibrio vulnificus Vibrio parahaemolyticus Vibrio alginolyticus Plesiomonas shigelloides Pseudomonadales Pseudomonas aeruginosa Pseudomonas infection Moraxella catarrhalis Acinetobacter baumannii Xanthomonadaceae Stenotrophomonas maltophilia Cardiobacteriaceae Cardiobacterium hominis HACEK Aeromonadales Aeromonas hydrophila / Aeromonas veronii Aeromonas infection ε Campylobacterales Campylobacter jejuni Campylobacteriosis , Guillain–Barré syndrome Helicobacter pylori Peptic ulcer , MALT lymphoma , Gastric cancer Helicobacter cinaedi Helicobacter cellulitis v t e Symptoms and conditions relating to muscle Pain Myalgia Fibromyalgia Acute Delayed onset Inflammation Myositis Pyomyositis Destruction Muscle weakness Rhabdomyolysis Muscle atrophy / Amyotrophy Other Myositis ossificans Fibrodysplasia ossificans progressiva Compartment syndrome Anterior Diastasis of muscle Diastasis recti Muscle spasm
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Combined Oxidative Phosphorylation Deficiency 14
Omim
Neuropathologic studies in 1 patient showed laminar cortical necrosis, characteristic of Alpers syndrome (203700) (summary by Elo et al., 2012). ... Brain MRI showed diffuse cerebral atrophy, enlarged ventricles, and bilateral hyperintense T2-weighted lesions in the basal ganglia, consistent with Leigh syndrome (256000). There was no evidence of liver impairment. ... The neuropathologic changes, together with the liver involvement, were reminiscent of Alpers syndrome (203700). The patient had an older sister with a similar disorder who died of multiorgan failure at age 21 months. ... INHERITANCE - Autosomal recessive GROWTH Other - Poor growth HEAD & NECK Head - Microcephaly Ears - Hearing impairment (rare) Eyes - Coarse retinal pigmentation (rare) - Visual impairment (rare) ABDOMEN Liver - Enlarged hepatocytes (rare) - Increased glycogen content (rare) Gastrointestinal - Poor feeding MUSCLE, SOFT TISSUES - Hypotonia - Deficiency of mitochondrial respiratory enzymes seen on muscle biopsy NEUROLOGIC Central Nervous System - Global developmental delay, profound - Seizures, refractory - Myoclonus - Abnormal EEG - Diffuse cerebral atrophy seen on MRI - Enlarged ventricles - T2-weighted hyperintensities in the basal ganglia - Leigh syndrome - Cerebral atrophy - Cortical degeneration - Decreased pyramidal cells - Laminar necrosis - Microcystic degeneration - Reactive gliosis - Cerebellar atrophy - Brainstem atrophy METABOLIC FEATURES - Lactic acidosis HEMATOLOGY - Anemia (rare) - Thrombocytopenia (rare) LABORATORY ABNORMALITIES - Increased serum lactate - Aminoaciduria (rare) MISCELLANEOUS - Onset in early infancy - Death in infancy (in some patients) - Variable severity MOLECULAR BASIS - Caused by mutation in the mitochondrial phenylalanyl-tRNA synthetase 2 gene (FARS2, 611592.0001 ) ▲ Close
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Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Omim
The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013). ... Brain MRI showed T2-weighted signals in the putamen, caudate, and brainstem, consistent with a diagnosis of Leigh syndrome. Muscle biopsy showed decreased activity of complexes I+III (79%), II (52%), II+III (36%), and IV (46%) of the mitochondrial respiratory chain. ... In a 4-year-old Hispanic boy with MC3DN2 presenting as Leigh syndrome, Atwal (2014) identified compound heterozygosity for 2 truncating mutations in the TTC19 gene (613814.0004 and 613814.0005). The mutation was found upon submission of the patient's DNA for a Leigh syndrome diagnostic panel. In a 37-year-old Japanese woman, born of consanguineous parents, with adult-onset MC3DN2 manifest clinically as spinocerebellar ataxia (SCA), Morino et al. (2014) identified a homozygous truncating mutation in the TTC19 gene (613814.0006).