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Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Nomenclature The form of PC caused by mutation in the KRT6B gene, here designated PC4, has also been designated PC-6b (Eliason et al., 2012) and PC-K6b (Shah et al., 2014).
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. ... Excessive sweating of palms and soles due to palmoplantar hyperhydrosis, widespread steatocystomas appearing during or after puberty, axillary and inguinal cysts, hoarseness in young children are other findings observed in some PC patients. Etiology Although historically two subtypes have been described, PC-1 and PC2, it is today recommended to classify PC patients into four subgroups based the underlying molecular etiology: PC-K6a, PC-K6b, PC-K16 and PC-K17, as PC is caused by dominant negative mutations in at least 4 genes [ KRT6A , KRT6B (12q13.13), KRT16 , KRT17 (17q21.2)] encoding keratins preferentially expressed in basal and suprabasal layers of palmoplantar skin, epidermal appendages and oral mucosa. ... Management and treatment There is no curative treatment for PC yet. Treatment of manifestations will focus primarily on grooming of nails and management of pain due to palmoplantar keratoderma: it includes the use of emollients to reduce hyperkeratosis and strategies to limit frictions and trauma of the feet.
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. ... Features may vary among affected people depending on their specific mutation. PC is divided into 5 types based on the specific keratin gene involved: PC- K6a , PC- K6b , PC- K6c , PC- K16 , and PC- K17 .
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Nomenclature The form of PC caused by mutation in the KRT6A gene, here designated PC3, has also been designated PC-6a (Eliason et al., 2012) and PC-K6a (Shah et al., 2014).
Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Nomenclature The form of PC caused by mutation in the KRT17 gene, here designated PC2, has also been designated PC-17 (Eliason et al., 2012) and PC-K17 (Shah et al., 2014).
Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. ... See 260130 for a possible autosomal recessive form of pachyonychia congenita. Nomenclature The form of PC caused by mutation in the KRT16 gene, here designated PC1, has also been designated PC-16 (Eliason et al., 2012) and PC-K16 (Shah et al., 2014).
PC-K6b is caused by a mutation in the KRT6B gene and more commonly associated with an increased age of onset (>14 years). PC-K6c is caused by a mutation in the KRT6C gen e and is the least common sub-type. ... Pachyonychia Congenita Project is a non-profit dedicated to finding a cure for PC. The organization houses a genetic registry (the International PC Research Registry) and offers free genetic testing for individuals suspected to have PC.  Treatment [ edit ] There is currently no cure for pachyonychia congenita. ... Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ a b "International PC Research Registry (IPCRR)" . www.pachyonychia.org .
See also premature chromatid separation (PCS; 176430), which can be caused by heterozygous mutation in the BUB1B gene. PCS is inherited as an autosomal dominant trait without phenotypic consequences. ... Another 10 relatives showed 0 to 1% cells with total PCS and so were judged negative for the total PCS trait. ... Plaja et al. (2001) studied 3 patients with MVA related to PCS, showed that the phenomenon is expressed in vivo, and found that PCS is a cancer-prone disorder. ... Cytogenetic analysis of 2 infants showed 48.5% and 83.2% lymphocytes in total PCS; their parents had 3.5 to 41.7% of their lymphocytes in total PCS.
A number sign (#) is used with this entry because mosaic variegated aneuploidy syndrome-2 (MVA2) is caused by homozygous or compound heterozygous mutation in the CEP57 gene (607951) on chromosome 11q21. Description Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011). See also MVA1 (257300), caused by mutation in the BUB1B gene (602860) on chromosome 15q15. Clinical Features Lane et al. (2002) reported a 12-year-old boy with poor growth, short stature, microcephaly, mild cognitive defects, and mildly dysmorphic facial features. Cytogenetic analysis found 24% hyperdiploid chromosome numbers during metaphase, consistent with MVA.
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes , a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism . Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.
A number sign (#) is used with this entry because of evidence that mosaic variegated aneuploidy syndrome-3 (MVA3; 617598) is caused by homozygous mutation in the TRIP13 gene (604507) on chromosome 5p15. Description MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). Clinical Features Yost et al. (2017) reported 6 probands with onset of Wilms tumor in early childhood.
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma , Wilm's tumor , and leukemia reported in several cases. MVA syndrome is an autosomal recessive condition. It can be caused by changes (mutations) in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function.
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. Epidemiology To date, 41 cases of MVA have been described in the literature. Clinical description The most common clinical features are growth retardation of prenatal onset, microcephaly, developmental delay, structural central nervous system and ophthalmological anomalies (e.g. cataract, corneal opacities, microphthalmia and glaucoma), and mild dysmorphic features, including triangular facies, micrognathia, and epicanthic folds. Additional features include oligohydramnios, ventricular dilatation, Dandy-Walker malformation, fetal ascites, and increased nuchal translucency. Cancer occurs in approximately 1/3 of individuals. Wilms tumor, rhabdomyosarcoma, acute lymphoblastic leukemia, and granulosa cell malignant tumor of the ovary (see these terms) all occur before the age of 5 years.
. ^ Walker BR, Ellison ED, Snow BW, Cartwright PC (July 2001). "The natural history of idiopathic urethrorrhagia in boys". The Journal of Urology . 166 (1): 231–2. doi : 10.1016/S0022-5347(05)66132-0 . PMID 11435875 . ^ Domínguez Hinarejos C, Bonillo García MA, Alapont Alacreu JM, Serrano Durbá A, Estornell Moragues F, García Ibarra F (January 2007).
Robinson et al. (1984) concluded that the 2 subtle types of PC deficiency result from 2 different mutations in the PC gene, 1 that synthesizes an inactive protein and 1 that results in lack of protein expression. ... Three families with the French presentation had absence of immunoreactive PC protein and PC mRNA; however, another 3 families with the French presentation had evidence of protein production as well as PC mRNA. ... Diagnosis Prenatal Diagnosis Tsuchiyama et al. (1983) reported a patient with PC deficiency and PC activity of about 5% of normal. ... Monnot et al. (2009) identified 9 novel mutations in the PC gene (see, e.g., 608786.0007-608786.0009) in 5 unrelated patients with PC deficiency: 3 had the more severe type B PC, and 2 had type A. PC activity in cultured fibroblasts was undetectable in all patients.
Type A appears to be much more common in some Algonkian Indian tribes in eastern Canada. Causes Mutations in the PC gene cause pyruvate carboxylase deficiency. ... Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters that allow nerve cells to communicate with one another. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. ... Learn more about the gene associated with Pyruvate carboxylase deficiency PC Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
Epidemiology The overall prevalence of PC deficiency is not known and annual incidence has been reported to be 1/250,000 births. ... Clinical description Three clinical presentations of PC deficiency, probably constituting a continuum, have been described: infantile PC deficiency (type A); severe neonatal PC deficiency (type B); and intermittent/benign PC deficiency (type C). ... Type B has a very severe course with a fatal outcome in early infancy, and Type C involves only episodic metabolic acidosis. Etiology PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5), involved in the conversion of pyruvate to oxaloacetate, an intermediate in the citric acid cycle and gluconeogenesis. ... Diagnostic methods PC deficiency may be suspected in patients with the non-specific clinical signs of the condition. Diagnosis is based on detection of characteristic laboratory test abnormalities in amino acid, organic acid, glucose, and ammonia serum concentrations. A PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
In individuals with PC deficiency, fibroblast PC enzyme activity is usually less than 5% of that observed in controls. The diagnosis of PC deficiency can also be established in a proband by identification of biallelic pathogenic variants in PC on molecular genetic testing. ... In individuals with PC deficiency, fibroblast PC enzyme activity is usually less than 5% of that observed in controls [Wang et al 2008]. Note: Muscle PC activity is quite low in control tissue. Therefore, PC enzyme assay on muscle tissue is not recommended.
Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. Epidemiology Benign PC deficiency is a very rare form of PC deficiency and has been described in fewer than 10 patients to date. ... Other signs include dystonia, episodic ataxia, dysarthria, transitory hemiparesis and seizures. Etiology Type C PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5). ... The abnormal biochemical parameters found in severe forms of PC deficiency are absent in patients with Type C, although lysine, proline and alanine may be elevated, while citrulline is normal. PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. ... Renal tubular acidosis has been reported. Etiology PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5). ... Blood lactic acid levels are usually above 10 mmol/l. PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing.
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. ... Clinical description Patients with Type A PC deficiency usually first present with symptoms at the age of two to five months, often after normal early development. ... Renal tubular acidosis has also been reported. Etiology PC deficiency is caused by mutations in the PC gene (11q13.4-q13.5). ... Blood lactic acid levels are usually between 2 and 10 mmol/l. PC enzyme activity assay demonstrating deficiency of the PC enzyme in fibroblasts is also diagnostic, along with mutations in the PC gene identified via molecular genetic testing. Genetic counseling PC deficiency is inherited in an autosomal recessive manner.
This muscle is the main abductor of the shoulder joint from 18 to 90 degrees (from 0 to 18 by supraspinatus). Injury can result in a reduction in shoulder abduction .  So a test can be applied to a patient with injury of axillary nerve by trying to abduct the injured shoulder against resistance. [ citation needed ] The pain from axillary neuropathy is usually dull and aching rather than sharp, and increases with increasing range of motion. Many people notice only mild pain but considerable weakness when they try to use the affected shoulder.  References [ edit ] ^ Axillary nerve - Wheeless' Textbook of Orthopaedics ^ a b Vitanzo PC Jr, Kenneally BE (August 5, 2009).
Type A of the disease appears to be much more common in some Algonkian Indian tribes in eastern Canada, while the type B disease is more present in European populations.  Contents 1 Genetics 2 Diagnosis 2.1 Classification 2.1.1 Type A 2.1.2 Type B 2.1.3 Type C 3 Treatment 4 References 5 External links Genetics [ edit ] Pyruvate carboxylase deficiency has an autosomal recessive pattern of inheritance. Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase . ... Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells ( myelin ) and the production of brain chemicals called neurotransmitters. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. ... External links [ edit ] Classification D ICD - 10 : E74.4 ICD - 9-CM : 271.8 OMIM : 266150 MeSH : D015324 DiseasesDB : 7378 External resources eMedicine : med/1979 ped/1967 GeneReview/NCBI/NIH/UW entry on Pyruvate Carboxylase Deficiency Pyruvate carboxylase deficiency at NLM Genetics Home Reference This article incorporates text from this source, which is in the public domain . v t e Mitochondrial diseases Carbohydrate metabolism PCD PDHA Primarily nervous system Leigh disease LHON NARP Myopathies KSS Mitochondrial encephalomyopathy MELAS MERRF PEO No primary system DAD MNGIE Pearson syndrome Chromosomal OPA1 Kjer's optic neuropathy SARS2 HUPRA syndrome TIMM8A Mohr–Tranebjærg syndrome see also mitochondrial proteins v t e Inborn error of carbohydrate metabolism : monosaccharide metabolism disorders Including glycogen storage diseases (GSD) Sucrose , transport (extracellular) Disaccharide catabolism Congenital alactasia Sucrose intolerance Monosaccharide transport Glucose-galactose malabsorption Inborn errors of renal tubular transport ( Renal glycosuria ) Fructose malabsorption Hexose → glucose Monosaccharide catabolism Fructose : Essential fructosuria Fructose intolerance Galactose / galactosemia : GALK deficiency GALT deficiency / GALE deficiency Glucose ⇄ glycogen Glycogenesis GSD type 0 (glycogen synthase deficiency) GSD type IV (Andersen's disease, branching enzyme deficiency) Adult polyglucosan body disease (APBD) Glycogenolysis Extralysosomal: GSD type III (Cori's disease, debranching enzyme deficiency) GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle's disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency) Lysosomal ( LSD ): GSD type II (Pompe's disease, glucosidase deficiency) Glucose ⇄ CAC Glycolysis MODY 2 / HHF3 GSD type VII (Tarui's disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency Gluconeogenesis PCD Fructose bisphosphatase deficiency GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency) Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency Transaldolase deficiency 6-phosphogluconate dehydrogenase deficiency Other Hyperoxaluria Primary hyperoxaluria Pentosuria Aldolase A deficiency
Studies using positron emission tomography have linked PCS to a reduction in glucose use by the brain. ... Many of these PCS sufferers were misdiagnosed as having other unrelated conditions due to commonality of symptoms. ... New York: Kluwer Academic/Plenum. pp. 289–290. ISBN 0-306-47270-8 . ^ a b c d Jacobson RR (August 1995). ... Hillsdale, N.J.: Lawrence Erlbaum Associates. pp. 411–2. ISBN 0-8058-2394-8 . ^ a b Alexander MP (1995). ... Oxford [Oxfordshire]: Oxford University Press. pp. 3–5. ISBN 0-19-505301-X . ^ a b Evans RW (2004).
MVA occurs when the offspring of 2 parents heterozygous for the PCS trait inherits both mutant BUB1B alleles. ... Several references listed in this entry (e.g., Rudd et al., 1983; Gabarron et al., 1986) have incorrectly used the designation PCD when referring to PCS. To avoid confusion, we have changed the designation to PCS in our discussion of these references. ... Petkovic (2007) reported a 3-generation family with autosomal dominant inheritance of PCS. Cytogenetic studies on peripheral blood lymphocytes demonstrated PCS frequency of 8.5% to 13.5% in 4 affected members. ... The father and mother had 6.5% and 16% PCS in cultured lymphocytes, respectively, consistent with heterozygosity for the PCS trait. Amniocentesis at 16 weeks in a subsequent pregnancy showed 4.5% cells in PCS and a nonmosaic 46,XY karyotype, also consistent with a heterozygous carrier of the PCS trait.
Karn et al. (1985) identified a new polymorphism, Pc, in human salivary proteins. Two proteins, Pc1 and Pc2, determined by alleles Pc(1) and Pc(2), showed autosomal codominant inheritance. ... By in situ hybridization, Mamula et al. (1985) regionalized the salivary protein gene complex to 12p13.2. Although Pc is clearly a proline-rich salivary protein coded by the gene cluster on 12p, its relation to the 6 gene loci identified there is not known (Azen, 1990).
Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. Epidemiology The annual incidence has been estimated at approximately 1-10/1,000,000, representing 5-10% of all PC cases. Clinical description In familial cases, disease onset occurs before 50 years of age, earlier than for the other forms of PC. ... Smoking represents a significant risk factor associated with familial PC. PC can arise from the exocrine (95%) or endocrine portions of the pancreas. ... Etiology Mutations in the KRAS , CDKN2A , TP53 , and SMAD4 genes have been shown to play a role in the etiology of PC. However, they are still not clinically useful for screening or for diagnosing the disease. ... Even after complete resection of the tumor, recurrence rates remain high. Patients with a family history of PC should be strongly advised to avoid or cease smoking.
A number sign (#) is used with this entry because mutations in a number of genes are associated with pancreatic carcinoma, familial or sporadic, germline or somatic. Description Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic Cancer Somatic mutations in pancreatic cancer occur in the KRAS (190070), CDKN2A (600160), MADH4 (600993), TP53 (191170), ARMET (601916), STK11 (602216), ACVR1B (601300), and RBBP8 (604124) genes.
A number sign (#) is used with this entry because of evidence that the form of familial pancreatic cancer that maps to 4q32-q34 is determined by mutation in the gene encoding palladin (PALLD; 608092). Clinical Features Familial pancreatic cancer (260350) occurs as part of several familial cancer syndromes and as part of hereditary pancreatitis. In addition, families with isolated pancreatic cancer have been identified, most notably the family of former President of the United States Jimmy Carter (Lynch et al., 1990; Brentnall et al., 1999; Banke et al., 2000; Hruban et al., 2001). Affected members of these families inherit pancreatic cancer in the absence of other types of cancer and in the absence of chronic pancreatitis. A striking example of autosomal dominant pancreatic cancer is 'family X' described by Brentnall et al. (1999) and Meckler et al. (2001).
Familial pancreatic cancer (FPC) is the occurrence of pancreatic cancer in two or more first-degree relatives (parent and child, or two siblings). It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family. In familial cases, pancreatic cancer often occurs before age 50 (earlier than other forms of pancreatic cancer). In 60% of cases it occurs within the head of the pancreas. Symptoms of pancreatic cancer are generally non-specific and may include pain in the upper abdomen that radiates to the back; loss of appetite; significant weight loss; and jaundice due to bile duct obstruction . Pancreatic cancer often goes undetected until the advanced stages of the disease, and rapid tumor growth and metastasis are common.
A number sign (#) is used with this entry because susceptibility to pancreatic cancer is conferred by heterozygous mutation in the BRCA2 gene (600185) on chromosome 13q13. For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350. Mapping Schutte et al. (1995) observed that, although pancreatic adenocarcinoma is relatively frequent, description of the genetic alterations has been hampered for several reasons. Because of the aggressive clinical course, the number of resected specimens, especially at early stages of the cancer, have been somewhat limited. Furthermore, pancreatic adenocarcinomas characteristically exhibit an exuberant host desmoplastic response, resulting in a high mixture of nonneoplastic cells and hampering the molecular genetic analysis of primary tumor samples.
A number sign (#) is used with this entry because this form of susceptibility to pancreatic cancer is caused by heterozygous mutation in the BRCA1 gene (113705). For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic cancer, see 260350. Mapping This form of susceptibility to pancreatic cancer is caused by mutations in the BRCA1 gene, which Miki et al. (1994) mapped to chromosome 17q21. Molecular Genetics Al-Sukhni et al. (2008) found loss of heterozygosity at the BRCA1 locus in pancreatic tumor DNA from 5 (71%) of 7 patients with pancreatic cancer who carried a heterozygous germline BRCA1 mutation (see, e.g., 113705.0003 and 113705.0018). Pancreatic tumor DNA was available for sequencing in 4 cases, and 3 demonstrated loss of the wildtype allele.
A number sign (#) is used with this entry because heterozygous mutation in the PALB2 gene (610355) on chromosome 16p12 confers susceptibility to pancreatic cancer. For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350. Molecular Genetics To explore the utility of personal genome sequencing, Jones et al. (2009) screened 20,661 coding genes for germline mutations in a patient with pancreatic cancer whose tumor DNA had previously been sequenced. They detected 15,461 germline variants. Three genes, including PALB2, carried variants in both germline and tumor DNA. PALB2 was considered the best candidate for a pancreatic cancer susceptibility gene because of the rarity of terminating PALB2 mutations in healthy individuals and because PALB2 had previously been implicated in breast cancer and Fanconi anemia.
Researchers used to distinguish pachyonychia congenita as one of two types, PC-1 or PC-2, based on the genetic cause and pattern of signs and symptoms. ... When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene mutations cause PC-K6b, KRT6C gene mutations cause PC-K6c, KRT16 gene mutations cause PC-K16, and KRT17 gene mutations cause PC-K17.
Human spinal cord disorder Posterior cord syndrome 5: posterior spinal arteries Posterior cord syndrome (PCS) , also known as posterior spinal artery syndrome (PSA), is a type of incomplete spinal cord injury .  PCS is the least commonly occurring of the six clinical spinal cord injury syndromes , with an incidence rate of less than 1%. ... Therapy and rehabilitative care including walking aids, physical, occupational, and psychotherapy can help ease the symptoms associated with PCS. Acute therapy can include intensive medical care and analgesia . ... In addition, the demographics of patients suffering from PCS are widespread as the onset of symptoms typically follows a traumatic event. Additionally, research has suffered setbacks because PCS is extremely rare with few documented cases, unlike anterior spinal cord injury.    However, ongoing research has helped in differentiating PCS from other brain injuries. Therefore, better therapies for PCS treatment can be developed. For instance, one study suggests that a tissue plasminogen activator (tPA) therapy intervention, commonly used in stroke patients,  may aid in treating patients with symptoms of PCS.  References [ edit ] ^ a b c d "Incomplete Spinal Cord Injury" .
Berlin Heidelberg: Springer Verlag. ISBN 978-0-387-10933-6 . [ page needed ] ^ Jacque CM, Kujas M, Poreau A, et al. ... PMID 216839 . ^ Kleihues P, Burger PC, Scheithauer BW (1993). Histological Typing of Tumours of the Central Nervous System (2nd ed.). ... ISSN 0022-3085 . PMID 6018784 . ^ Burger PC, Vollmer RT (September 1980). "Histologic factors of prognostic significance in the glioblastoma multiforme" (Free full text) . Cancer . 46 (5): 1179–86. doi : 10.1002/1097-0142(19800901)46:5<1179::AID-CNCR2820460517>3.0.CO;2-0 . ISSN 0008-543X . PMID 6260329 . ^ Klein R, Mölenkamp G, Sörensen N, Roggendorf W (June 1998).
Burkitt lymphoma (BL) is a very fast-growing type of cancer. It is a form of B-cell non-Hodgkin's lymphoma . There are 3 recognized forms of BL: Endemic (African) - the most common form, found mainly in central Africa, where it is associated with the Epstein Barr virus (EBV) . It is most common in children. This form often manifests as enlargement of the jaw or facial bones. Sporadic - a rarer form, seen in all parts of the world, that often develops in the abdomen with bone marrow involvement. The kidneys, ovaries, breasts or other organs may also be involved. This form commonly affects children and young adults.
Love et al. (2012) stated that their data implicate a number of genes in cancer for the first time, including CCT6B (610730), SALL3 (605079), FTCD (606806), and PC (608786). ID3 mutations occurred in 34% of Burkitt lymphomas and not in diffuse large B-cell lymphomas (DLBCLs).
Philadelphia, PA: Churchill Livingstone/Elsevier. pp. 1304–1305. ISBN 978-0-443-06715-0 . ^ Liu D, Shimonov J, Primanneni S, Lai Y, Ahmed T, Seiter K (2007). ... Lyon, France : International Agency for Research on Cancer. ISBN 978-92-832-2431-0 . ^ Barnes, J.A.; LaCasce2, A.S; Feng, Y.; et al. (2011). ... Hagerstown, MD: Lippincott Williams & Wilkins. p. 283. ISBN 0-7817-5007-5 . Frequency of lymphoid neoplasms.
A number sign (#) is used with this entry because of evidence that susceptibility to acute lymphoblastic leukemia-3 (ALL3) is conferred by heterozygous mutation in the PAX5 gene (167414) on chromosome 9p13. For a general phenotypic description and a discussion of genetic heterogeneity of acute lymphoblastic leukemia, see 613065. Clinical Features Shah et al. (2013) reported 2 unrelated families in which multiple individuals in several generations had childhood onset of B-cell acute lymphoblastic leukemia (B-ALL). Relapse was common. One of the families was of Puerto Rican descent and the other was of African American descent. Gu et al. (2019) characterized 2 subtypes of B-ALL, PAX5alt (PAX5-altered) and PAX5 pro80 to arg (P80R), that are defined by PAX5 alterations (see MOLECULAR GENETICS).
PCD is distinct from the similarly named 'premature chromatid separation' (PCS; 176430), in which chromatids are separate and splayed and the centromeres are discernible (Kajii and Ikeuchi, 2004). PCS is an autosomal dominant trait that affects all chromosomes and is associated with heterozygous mutations in the mitotic spindle checkpoint gene BUB1B (602860). ... INHERITANCE - Isolated cases LABORATORY ABNORMALITIES - Premature centromere division (PCD) of the X chromosome observed in cultured lymphocytes during metaphase - PCD shows separate and rod-shaped X chromosomes without discernible centromeres - Aneuploidy of the X chromosome MISCELLANEOUS - More commonly observed in women - Associated with increasing age - PCD is a distinct disorder from premature chromatid separation (PCS, 176430 ), which occurs in all chromosomes ▲ Close
Find sources: "Peritoneal carcinomatosis" – news · newspapers · books · scholar · JSTOR ( November 2018 ) Peritoneal carcinomatosis Intestines with peritoneal carcinomatosis from gastric cancer , appearing as a grainy serosal surface.  Specialty Oncology Peritoneal carcinomatosis (PC) is intraperitoneal dissemination ( carcinosis ) of any form of cancer that does not originate from the peritoneum itself. PC is most commonly seen in abdominopelvic malignancies.
The three biotin-dependent carboxylases: Propionyl-CoA carboxylase (PCC) encoded by PCCA and PCCB (See Propionic Acidemia.) 3-methylcrotonyl-CoA carboxylase (3MCC) encoded by MCCC1 and MCCC2 (OMIM 210200, OMIM 210210) Pyruvate carboxylase (PC) encoded by PC (See Pyruvate Carboxylase Deficiency.) ... Low C0 (free carnitine) and elevated C2, C3, and C5OH Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. ... The differences, however, include the following: Glutamine levels are elevated in CA-VA deficiency whereas they are normal to decreased in PC deficiency. Citrulline levels are decreased to normal in CA-VA deficiency whereas they are often elevated in PC deficiency. Lysine levels are normal, and 2-α-ketoglutaric acid and other Krebs cycle intermediates are relatively mildly elevated in CA-VA deficiency. In PC deficiency, lysine is elevated and 2-ketoglutarate and other Krebs cycle metabolites are decreased. The biochemical profiles in the four reported children with CA-VA deficiency support a predominant effect of (secondary) CPS1 deficiency vs PC deficiency. Multiple carboxylase deficiency (holocarboxylase synthetase and biotinidase deficiency ).
.: Churchill Livingstone. p. 275. ISBN 0-443-06583-7 . ^ a b Gearhart JP, Mathews R. ... European Urology Focus. 2018. ^ Gearhart JP, Jeffs RD: The bladder exstrophy-epispadias complex. In: Walsh PC, et al ed. Campbell's urology, 7th ed. ... ISBN 9781405196253 . ^ The importance of a successful initial bladder closure in the surgical management of classical bladder exstrophy: analysis of 144 patients treated at the Johns Hopkins Hospital between 1975 and 1985. 1987 Feb;137(2):258–62. ^ Closure of the exstrophic bladder: an evaluation of the factors leading to its success and its importance on urinary continence. 1989 Aug;142(2 Pt 2):522–4–discussion542–3. ^ Failed exstrophy closure: management and outcome. 2010 Aug;6(4):381–4. ^ Gargollo PC, Borer JG (2007). "Contemporary outcomes in bladder exstrophy".
Overview Bladder exstrophy (EK-stroh-fee) is a rare birth defect in which the bladder develops outside the fetus. The exposed bladder can't store urine or function normally, resulting in urine leakage (incontinence). Problems caused by bladder exstrophy vary in severity. They can include defects in the bladder, genitals and pelvic bones, as well as defects in the intestines and reproductive organs. Bladder exstrophy may be spotted on a routine ultrasound during pregnancy. Sometimes, though, the defect isn't visible until the baby is born. Babies born with bladder exstrophy will need surgery to correct the defects.
Description Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780. Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (258040).
A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. Epidemiology The prevalence at birth for the EEC is reported at 1/10,000. As epispadias (E), classic bladder exstrophy (CEB) and cloacal exstrophy (EC) are now recognized clinical variants of the same spectrum, accurate epidemiological data on E/EC/CEB are no longer available. However, CEB appears to be more frequent in the white population. Most studies report a male-to-female ratio of around 2.4:1, but ratios as high as 6:1 have also been reported. Clinical description CEB is evident from birth, with the reddish bladder mucosa being visible in the lower abdomen and mucosal polyps sometimes present on the surface.