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  • Ehlers-Danlos Syndrome, Classic Type, 1 Omim
    In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. ... EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). ... The criterion used to distinguish EDS II from EDS I was the absence of widened atrophic scars in EDS II. ... Ten patients each were analyzed with classic EDS, vascular EDS (130050), hypermobility EDS (130020), and TNX-deficient EDS (606408). ... In the Villefranche classification of EDS (Beighton et al., 1998), 6 main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and EDS II, 130010), hypermobility type (EDS III, 130020), vascular type (EDS IV, 130050), kyphoscoliosis type (EDS VI, 225400), arthrochalasia type (EDS VIIA and VIIB, 130060), and dermatosparaxis type (EDS VIIC, 225410).
    COL1A1, COL5A1, COL5A2
    • Classical Ehlers-Danlos Syndrome Orphanet
      Differential diagnosis Differential diagnosis is extensive but primarily includes other EDS types (i.e., hypermobile, cardiac-valvular, classical-like type 1, classical-like type 2, spondylodysplastic, vascular, arthrocalasia, kyphoscoliotic, dermatosparaxis EDS), Loeys-Dietz syndromes, Marfan syndrome, cutis laxa, and other inherited connective tissue disorders.
    • Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified Omim
      McKusick (1972) observed dissecting aortic aneurysm in type VI EDS (225400).
    • Ehlers-Danlos Syndrome, Classic Type, 2 Omim
      ., R134C, 120150.0059) cause classic EDS. Description The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. ... There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively. ... The criterion used to distinguish EDS II from EDS I was the absence of widened atrophic scars in EDS II. De Felice et al. (2001) studied 4 patients with EDS II and 8 patients with EDS III (130020), the hypermobile type. ... Overall, over 90% of patients fulfilling all major Villefranche criteria for classic EDS were shown to harbor a type V collagen defect, indicating that this is the major, if not the only, cause of classic EDS.
    • Classical Ehlers-Danlos Syndrome Gard
      Classical Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. ... More than 90% of people with classical EDS have mutations in COL5A1 or COL5A2, two genes which encode type V collagen.
  • Ehlers-Danlos Syndrome Orphanet
    Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.
    COL1A1, COL1A2, COL3A1, B3GALT6, SLC39A13, DCN, PLOD1, COL5A1, B4GALT7, CHST14, TNXB, COL5A2, ADAMTS2, FN1, FKBP14, SEMA6A, HCRT, ADAMTS4, COX8A, CYP21A2, REM1, FLNA, DSE, AEBP1, TGFBR2, MAOA, TGFBR1, IL6, ELN, MED18, PDSS2, COL2A1, MMRN1, LRRK2, VWF, IL1R2, B3GALT4, CENPJ, ZEB2, TAB2, FAM20B, SEMA3A, CIT, COL5A3, SP140, TIMP2, ATP6V0A2, ACTA2, PAEP, TBX1, SNAI1, AR, ATP7A, BDNF, BGN, C1R, CGA, COL4A1, COL12A1, ATF2, CYP21A1P, DMPK, EDA, FBN1, MSTN, GDNF, IGFBP1, LRP5, NPPC, NPR2, OSM, ACTB, PDE4A, PLOD2, PTGS2, SLC6A3, EDS8
    • Ehlers-Danlos Syndromes Gard
      Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. ... The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. ... Mutations in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
    • Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome Gene_reviews
      Nomenclature Kyphoscoliotic EDS (kEDS) was initially referred to as EDS, oculoscoliotic form after its first description by Pinnell et al [1972]. Prior to the development of the 1998 Villefranche classification, kEDS was known as EDS VI (or EDS VIA). ... In 2017, the International EDS Consortium proposed a revised EDS classification system. The new nomenclature for EDS, kyphoscoliotic form is kyphoscoliotic EDS, or kEDS [Malfait et al 2017]. ... Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) has some overlapping clinical features with other forms of EDS, particularly classic EDS and vascular EDS.
    • Ehlers–danlos Syndromes Wikipedia
      It involves the skin more than hypermobile EDS.[62] In classical EDS there is often large variation in symptom presentation from patient to patient. ... There are special recommendations for anesthesia in people with EDS.[91] Detailed recommendations for anesthesia and perioperative care of people with EDS should be used to improve safety.[89] Surgery in people with EDS requires careful tissue handling and a longer immobilization afterward.[92] Prognosis[edit] The outcome for individuals with EDS depends on the specific type of EDS they have. ... Severe mobility-related disability is seen more often in hypermobile EDS than in classical EDS or vascular EDS.[93] Although all types of EDS are potentially life-threatening, most people have a normal lifespan. ... The most commonly occurring is hypermobile EDS, followed by classical EDS. ... PMID 23227356. ^ "The Types of EDS". The Ehlers Danlos Society. Retrieved 2018-10-17. ^ a b c d e f "The Types of EDS".
    • Classic Ehlers-Danlos Syndrome Gene_reviews
      Previously, two subtypes, EDS type I and EDS type II, differing only in phenotypic severity, were recognized; it is now apparent that they form a continuum of clinical findings. ... Nomenclature As a result of the 1997 Villefranche conference on EDS [Beighton et al 1998], the former EDS type I and type II were reclassified as EDS, classic type. In 2017, the International EDS Consortium proposed a revised EDS classification system. The new nomenclature for EDS, classic type is classic EDS, or cEDS [Malfait et al 2017]. ... For recommendations on treatment of joint laxity and dislocations, see Hypermobile EDS.
  • Ehlers-Danlos Syndrome, Hypermobility Type Omim
    Clinical Features Wenstrup et al. (2002) performed a prospective cohort study on 71 consecutive EDS patients. ... Wenstrup et al. (2002) concluded that aortic root dilatation is a common finding in EDS. ... Ten patients each were analyzed with classic EDS (130000), vascular EDS (130050), hypermobility EDS, and TNX-deficient EDS (606408). ... Patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected. ... The disorder in this family is here classified as a nonvascular variant of EDS IV.
    TNXB, COL3A1, CYP21A2
    • Hypermobile Ehlers-Danlos Syndrome Gene_reviews
      None of these features is specific to EDS, and these features alone are insufficient to establish a diagnosis of any type of EDS [Malfait et al 2017]. Establishing the Diagnosis The diagnostic criteria for hEDS (and all other types of EDS) were revised by the International EDS Consortium in 2017 [Malfait et al 2017]. ... Among those with independently confirmed EDS, Chiari malformation was found in only one (4.7%) of 21 individuals with hypermobile EDS [Castori et al 2010a] and one (5.5%) of 18 individuals with headache and unspecified types of EDS [Jacome 1999]. ... The other forms of EDS are distinguished by additional connective tissue manifestations [Malfait et al 2017]: Classic EDS (cEDS) includes skin and soft tissue fragility. ... In vascular EDS (vEDS), the joint laxity is predominantly in small joints, as opposed to the generalized laxity typically observed in hypermobile EDS.
    • Hypermobile Ehlers-Danlos Syndrome Gard
      It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. ... While hypermobile EDS is regarded as a genetic condition, the genetic cause is unknown as the gene(s) responsible have not been identified.
  • Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Omim
    Clinical Features Cole et al. (1986) reported a 3-month-old girl with type VII EDS. ... The changes were more pronounced than those observed in EDS VIIB (EDSARTH2; 617821), but less severe than those present in EDS VIIC (EDSDERMS; 225410). ... A patient with EDS VIIA had a more severe phenotype compared to those with EDS VIIB, and electron microscopy indicated a more severe disruption of collagen fibrils in EDS VIIA compared to EDS VIIB. ... Nusgens et al. (1992) referred to the 2 structural defects of procollagen polypeptides as EDS VIIA and EDS VIIB for the COL1A1 and COL1A2 defects, respectively. They used the designation EDS VIIC for the autosomal recessive enzymatic form (225410).
    COL1A2, COL1A1
    • Arthrochalasia Ehlers-Danlos Syndrome Orphanet
      A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin. ... It is one of the rare types of EDS. Clinical description Patients affected by arthrochalasia Ehlers-Danlos syndrome (aEDS) present at birth with severe hypermobility of both small and large joints with easy dislocation on manipulation, in combination with muscular hypotonia. ... Differential diagnosis Differential diagnosis includes Larsen syndrome, classical EDS (cEDS), dermatosparaxis EDS (dEDS), kyphoscoliotic EDS (kEDS) and musculocontractural EDS (mcEDS), Loeys-Dietz syndrome and autosomal recessive cutis laxa type 2B.
    • Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 Omim
      Description Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. ... Eyre et al. (1985) and Steinmann et al. (1985) each reported a similar case of EDS VII. ... The authors suggested that the last feature may be more common in EDS VII than previously realized. ... Carr et al. (1994) reported a 32-year-old woman with EDS VIIB confirmed by genetic analysis (120160.0032).
    • Arthrochalasia Ehlers-Danlos Syndrome Gard
      EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner.
  • Ehlers-Danlos Syndrome, Classic-Like Omim
    Although the findings were similar to those of classic EDS, all tenascin-X-deficient patients lacked atrophic scars, a major diagnostic criteria for classic EDS. ... Unlike classic EDS patients, they did not have atrophic scarring or poor wound healing. ... Ten patients each were analyzed with classic EDS (see 130000), vascular EDS (130050), hypermobility EDS (130020), and TNX-deficient EDS. Overall, those with classic EDS and TNX-deficient EDS reported the most neuromuscular involvement, with muscle weakness, hypotonia, myalgia, easy fatigability, and intermittent paresthesias, although patients in all groups reported these features. ... Patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected.
    TNXB, CYP21A2
    • Classical-Like Ehlers-Danlos Syndrome Gard
      Classical-like Ehlers-Danlos syndrome (EDS due to  tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising.   ... Classical-like EDS is caused by mutations in both copies of the TNXB gene and is inherited in an autosomal recessive manner; however, some individuals with a mutation in only one copy of the TNXB gene can have symptoms similar to EDS hypermobility type including joint hypermobility and soft skin. ... Some individuals with classical-like EDS can have larger deletions of genetic material including other genes. ... There is no cure for classical-like EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
    • Classical-Like Ehlers-Danlos Syndrome Type 1 Orphanet
      A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogeric skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
  • Sensitization (Immunology) Wikipedia
    References[edit] ^ a b c Anderson DM, ed. (2003). "Sensitization." Dorland's Illustrated Medical Dictionary, 30th ed. ... ISBN 0-7216-0146-4. ^ a b c Brown MJ, ed. (1992). "Sensitization." Miller-Keane Encyclopedia & Dictionary of Medicine, Nursing, and Allied Health, 5th ed. ... ISBN 0-7216-3456-7. ^ a b Pugh MB, ed. (2000). "Sensitization." Stedman's Medical Dictionary, 27th ed. ... ISBN 0-683-40007-X. ^ a b c Janeway C, Travers P, Walport M, Shlomchik M, eds. (2001). ... Dictionary of Terms in Immunology, 3rd ed. Osaka: Saishin-Igakusha, Ltd., p. 510.
    BIN1, CD63, TNC, IL1B, P2RX3, TLR4, TP53, HOMER1, MAGED1
  • Egg Drop Syndrome Wikipedia
    Abnormal Eggs, EDS '76 EDS '76 is one of the important viral diseases of birds, notably chickens, ducks, geese and swans. ... Several vaccine are available: Izovac EDS, Nobilis EDS, AVIVAC-EDS-76 and other EDS '76 available vaccines. ... "Egg Drop Syndrome (EDS -'76) in India: Seroprevalence of EDS -'76 Virus Infections in Poultry Flocks". ... "Evaluation of efficiency of ELISA for detection of antibodies to EDS-76 virus". ... External links[edit] EDS at The Poultry Site
    LSAMP, PIK3CA, PIK3CB, PIK3CD, PIK3CG, LAMP3
  • Ehlers-Danlos Syndrome, Periodontal Type, 1 Omim
    Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. ... Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, one of which was the periodontitis type (EDS VIII). ... Reinstein et al. (2013) reported a 4-generation family with EDS VIII. ... No pathogenic mutations in C1R or C1S were identified in 71 patients with aggressive periodontitis but no EDS-like features, or in 11 patients clinically diagnosed with vascular EDS.
    C1R, C1S
    • Ehlers-Danlos Syndrome, Periodontal Type, 2 Omim
      In the second family (family 17), the proband was a 75-year-old man with features of periodontal EDS including thin, fragile, and hyperelastic skin, easy bruising, atrophic scars, pretibial discoloration, and scoliosis.
    • Periodontal Ehlers-Danlos Syndrome Orphanet
      Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. Clinical description EDS type VIII is the rarest form of EDS and is characterized by severe early-onset periodontal disease in conjunction with the presence of plaques of scar tissue in the pretibial zones (hyperpigmented atrophic scars).
  • Gastric Distension Wikipedia
    Schwartz's Principles of Surgery (10 ed.). McGraw-Hill. pp. ch 26. ^ Sleisenger and Fordtran's Gastrointestinal and Liver Disease (10 ed.). Saunders. 2016. pp. 130–147. ^ Emergency Medicine (2 ed.). Saunders. 2013. pp. 1660–1663. ^ Kumar and Clark's Clinical Medicine (9 ed.). Elsevier. 2017. pp. 31–42. ^ Abdominal Imaging (2 ed.). Elsevier. 2017. pp. 126–136. ^ Current Surgical Therapy (12 ed.). Elsevier. 2017. pp. 130–135. ^ Essentials of Radiology (3 ed.). Saunders. 2014. pp. 115–156.
  • Ehlers-Danlos Syndrome, Vascular Type Omim
    The abnormality in type III collagen suggested the diagnosis of EDS IV. ... Pope and Nicholls (1983) took a less pessimistic view of pregnancy in EDS IV. ... Germain and Herrera-Guzman (2004) provided an extensive review of EDS IV. ... Ten patients each were analyzed with classic type I EDS (130000), vascular EDS, hypermobility EDS (130020), and TNX-deficient EDS (606408). ... Palmeri et al. (2003) characterized 7 members of a family with EDS IV.
    COL3A1, SLC39A13, COL1A1, COL1A2, FBN1, TNXB, ADGRG1
    • Vascular Ehlers-Danlos Syndrome Gard
      It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). ... Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene.
    • Vascular Ehlers-Danlos Syndrome Orphanet
      Differential diagnosis Main differential diagnosis are other forms of Ehlers-Danlos syndromes, notably classical EDS (including COL1A1 variants leading to substitutions of arginine to cysteine residues in the triple helical domain), kyphoscoliotic EDS and periodontal EDS.
    • Sack–barabas Syndrome Wikipedia
      This condition is now called Ehlers–Danlos syndrome, vascular type [formerly EDS type IV].
  • Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Omim
    Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). ... The diagnosis of EDS and studies of skin biopsy material were made when he was 3 months old. ... Nomenclature The kyphoscoliotic type of Ehlers-Danlos syndrome was at one time separated into EDS VIA (with lysyl hydroxylase deficiency) and EDS VIB (with normal lysyl hydroxylase activity). ... EDS VIB is now known as the musculocontractural type of EDS (601776), caused by mutation in the CHST14 gene (608429). ... Might this be the ocular-scoliotic form of EDS VI, rather than type IV?
    PLOD1, FKBP14, P3H3, P3H4
    • Kyphoscoliotic Ehlers-Danlos Syndrome Gard
      Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. kyphoscoliosis EDS is caused by changes (mutations) in the PLOD1 gene or the FKBP14 gene  and it is inherited in an autosomal recessive manner.
    • Kyphoscoliotic Ehlers-Danlos Syndrome Orphanet
      A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.
    • Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency Orphanet
      A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.
  • Spondylodysplastic Ehlers-Danlos Syndrome Gard
    Spondylodysplastic Ehlers-Danlos syndrome (EDS) is a subtype of the EDS, a group of genetic disorders of the connective tissue, which is the material between body cells that gives tissues form and strength. ... Like people with other types of EDS, people with Spondylodysplastic EDS have unusually flexible joints; loose, elastic skin; and easy scarring. ... Spondylodysplastic EDS may be caused by mutations in the B4GALT7 gene, the B3GALT6, or the SLC39A13 gene.
    B4GALT7
    • Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 Omim
      Hernandez et al. (1979) reported 2 unrelated male patients with what appeared to be a new variety of EDS. Mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, multiple nevi, pectus excavatum, and bilateral cryptorchidism were present in addition to joint hypermobility, hyperextensibility and fragility of skin, papyraceous scars, bruisability, varicose veins, and pes planus--features suggesting a form of EDS.
    • B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome Orphanet
      A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. Epidemiology To date, 34 individuals with molecularly diagnosed B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome have been reported. Clinical description The main features in affected individuals are short stature, bowing of limbs, small joint hypermobility, hyperextensible, soft, doughy skin with delayed wound healing, and radioulnar synostosis. Facial dysmorphism includes short face with midface hypoplasia, proptosis, narrow mouth and loose skin also evident in the face.
    • Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 Omim
      Molecular Genetics In 4 patients from 3 families with a progeroid form of EDS who did not have mutations in the B4GALT7 gene, Nakajima et al. (2013) performed Sanger sequencing of the B3GALT6 gene and found that all 4 patients were compound heterozygous for a frameshift and a missense mutation (615291.0007-615291.0011).
  • X-Linked Periventricular Heterotopia Gard
    Some people also have hyperflexible joints and vascular anomalies, which also occur in Ehlers-Danlos syndrome (EDS). ... EDS with periventricular heterotopia, previously considered a variant of EDS, is now considered to be the same as X-linked periventricular heterotopia type 1 (PVNH1) and is not included as an EDS subtype under the 2017 classification of EDS.
    FLNA, NEDD4L, ERMARD
    • Flna-Related Periventricular Nodular Heterotopia Gene_reviews
      Summary Clinical characteristics. FLNA-related periventricular nodular heterotopia (PVNH), a neuronal migration disorder, is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Affected individuals are predominantly heterozygous females; males most often show early lethality. Affected females present with seizures at an average age of 14-15 years; intelligence ranges from normal to borderline. The risk for cardiovascular disease, stroke, and other vascular/coagulation problems appears to be increased. Diagnosis/testing. The diagnosis of FLNA-related PVNH is established by the identification of: Characteristic head MRI findings; and Heterozygous pathogenic variants in FLNA in females or hemizygous pathogenic variants in FLNA in males.
  • Ectodermal Dysplasia Gard
    Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of EDs are caused by mutations in different genes, and can be inherited in a variety of ways. No cure currently exist for the different types of ED, but many treatments are available to address the individual symptoms.
    GJB6, RHOA, ITGB4, ODC1, BMS1, DHX40, EDA, WNT10A, TP63, IKBKG, EDAR, HOXC13, NECTIN1, PKP1, NECTIN4, ORAI1, EDARADD, SMARCAD1, KRT14, NLRP1, RPE65, CKAP4, WDR35, MBTPS2, IFT122, UVRAG, WDR19, EVC, CLPB, CDH3, IFT43, TWIST2, EVC2, DLX3, AXIN2, TRAF6, GJB2, NFKBIA, KRT85, MAP3K7, STIM1, NFKB2, CHUK, TAB2, CALM1, CTNNB1, ITCH, KREMEN1, CD38, KRT74, KRIT1, DNMT3B, KDF1, CALM3, CALM2, FOXI2, CYBB, EDA2R, CAMKMT, DSP, PERP, TRAF3, IFNG, JAG2, NFKB1, FNDC3A, PAX9, RAC1, SNAI1, KLF4, NCF1
    • Ectodermal Dysplasia Wikipedia
      Some ED conditions are only present in single family units and derive from very recent mutations. ... Sweat glands[edit] Individuals affected by certain ED syndromes cannot perspire. ... In some types of ED, abnormal development of parts of the eye can result in dryness of the eye, cataracts, and vision defects. Professional eye care can help minimize the effects of ED on vision. Similarly, abnormalities in the development of the ear may cause hearing problems. ... Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
    • Ectodermal Dysplasia Syndrome Orphanet
      The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. Epidemiology Overall prevalence of ectodermal dysplasia syndromes is unknown, but appears rare with a presumed cumulative incidence of approximately 1/1,429. More than 120 clinically and/or genetically distinct ectodermal dysplasias have been cataloged. Clinical description In ectodermal dysplasias, the skin usually appears dry with superficial scaling and proneness to dermatitis.
  • Braxy Wikipedia
    Sheep medicine (2nd ed.). CRC Press. p. 137. ISBN  9781498700153 . ^ a b Winter, AC (2012). ... A handbook for the sheep clinician (7th ed.). Wallingford: CABI. pp. 92–93. ... In Gyles, CL; Prescott, JF; Songer, JG; Thoen, CO (eds.). Pathogenesis of bacterial infections in animals (4th ed.). ... In Uzal, FA; Songer, JG; Prescott, JF; Popoff, MR (eds.). Clostridial diseases of animals. ... ISBN  9781118728307 . ^ Wood, James, ed. (1907). "Braxy" . The Nuttall Encyclopædia.
  • Ehlers-Danlos Syndrome, Dermatosparaxis Type Omim
    EDS was suspected on the basis of blue sclerae and soft, velvety, hyperextensible skin. ... Nusgens et al. (1992) noted that the clinical manifestations of EDS VIIC were different from those of EDS VIIA (130060) and VIIB, in which the clinical picture is dominated by joint laxity and subluxations. The skin fragility EDS VIIC can be as severe as that observed in the dermatosparactic calves. ... In 1, a structural defect in the alpha-2(I) chain was demonstrated, consistent with EDS VIIB. ... Nomenclature Nusgens et al. (1992) referred to this disorder as Ehlers-Danlos syndrome type VIIC, reserving EDS VIIA and EDS VIIB for the disorders resulting from defects in the procollagen alpha-1 and alpha-2 polypeptides, respectively.
    ADAMTS2, ADAMTS4, COL1A2, ADAMTS3, ADAMTS14
    • Dermatosparaxis Ehlers-Danlos Syndrome Orphanet
      A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
    • Dermatosparaxis Ehlers-Danlos Syndrome Gard
      EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner.
  • Other Specified Paraphilic Disorder Wikipedia
    Other specified paraphilic disorder is the term used by the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) to refer to any of the many other paraphilic disorders that are not explicitly named in the manual.[1] Along with unspecified paraphilic disorder, it replaced the DSM-IV-TR category paraphilia not otherwise specified (PNOS).[2][3] Examples listed by the DSM-5 are telephone scatologia, necrophilia, zoophilia, coprophilia, klismaphilia, and urophilia.[1] Partialism was considered a Paraphilia NOS in the DSM-IV, but was subsumed into fetishistic disorder by the DSM-5.[4] In order to be diagnosable, the interest must be recurrent and intense, present for at least six months, and cause marked distress or impairment in important areas of functioning.[1] When a specific paraphilia cannot be identified or the clinician chooses not to specify it for some other reason, the unspecified paraphilic disorder diagnosis may be used instead.[5] See also[edit] Courtship disorder Erotic target location errors List of paraphilias References[edit] ^ a b c American Psychiatric Association, ed. (2013). ... Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.). ... O'Donohue (Eds.), Sexual deviance: Theory, assessment, and treatment (2nd ed., pp. 384-428). New York: Guilford. ^ American Psychiatric Association, ed. (2013). "Fetishistic Disorder, 302.81 (F65.0)". ... American Psychiatric Publishing. p. 701. ^ American Psychiatric Association, ed. (2013).
  • Acephalgic Migraine Wikipedia
    Primary Care Medicine: Office Evaluation and Management of the Adult Patient (6th ed.). ... Companion to clinical neurology (2nd ed.). Oxford University Press US. p. 587. ... Neurology in clinical practice. 2 (4th ed.). Taylor & Francis. p. 2074. ... Diagnosis and treatment of symptoms of the respiratory tract (2nd ed.). ... A Clinical Guide to Epileptic Syndromes and Their Treatment (2nd ed.).
  • Bladder Cancer In Cats And Dogs Wikipedia
    (eds.). Veterinary Surgery. London: Elsevier Health Sciences. pp. 1990–1992. ISBN  9780323263375 . ^ Withrow SJ, MacEwen EG, eds. (2001). Small Animal Clinical Oncology (3rd ed.). ... In Schaer, Michael; Gaschen, F (eds.). Clinical medicine of the dog and cat (3rd ed.).
  • Erectile Dysfunction Wikipedia
    "[2] Psychological impact ED often has an impact on the emotional well-being of both men and their partners. ... The study of ED within medicine is covered by andrology, a sub-field within urology. Research indicates that ED is common, and it is suggested that approximately 40% of males experience symptoms compatible with ED, at least occasionally.[49] The condition is also on occasion called phallic impotence.[50] Its antonym, or opposite condition, is priapism.[51][52] References ^ a b c d e Cunningham GR, Rosen RC. ... In: UpToDate, Martin KA (Ed), UpToDate, Waltham, MA, 2018. ^ a b c d e f g h i j k l m Chowdhury SH, Cozma AI, Chowdhury JH. ... "Erectile dysfunction in the community: trends over time in incidence, prevalence, GP consultation and medication use – the Krimpen study: trends in ED".
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