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Waldenström's Macroglobulinemia Wikipedia

PMID 18809818 . ^ Kristinsson, S.; Björkholm, M.; Goldin, L.; McMaster, M.; Turesson, I.; Landgren, O. (2008). ... V.; Jimenez-Zepeda, V. H.; Schop, R. F. J.; Chesi, M.; Barrett, M.; Stewart, A. K.; Dogan, A.; Bergsagel, P. ... P.; Witzig, T. E.; Hideshima, T.; Brown, M.; Anderson, K. C.; Ghobrial, I. M. (2008). ... PMID 19351844 . ^ Gutiérrez, N.; Ocio, E.; De Las Rivas, J.; Maiso, P.; Delgado, M.; Fermiñán, E.; Arcos, M.; Sánchez, M.; Hernández, J.; San Miguel, J. ... PMID 18813229 . ^ Kyle RA, Treon SP, Alexanian R, Barlogie B, Bjorkholm M, Dhodapkar M, Lister TA, Merlini G, Morel P, Stone M, Branagan AR, Leblond V (2003).

MYD88, PAX5, IGH, LPL, CXCR4, ANPEP, MYC, ZAP70, MALT1, CDR3, MYOM2, SDC1, CXCL12, AIMP2, TCL1A, GRAP2, TCL1B, AHSA1, ACSBG1, RNF19A, IBTK, POLDIP2, IGHV4-34, BCL11A, KRT20, EXOC2, RAPH1, MAPK1, NOS1, NOTCH2, NOS2, BCL6, BCL9, BLM, BRAF, BSG, BTK, SERPING1, CCND3, CD6, MS4A1, TNFRSF8, CD40LG, CD79A, CRK, MAPK14, CTNNB1, IL4, IRF4, CD200, NCAM1, CCND1, SLC35B2
Blue Cone Monochromacy Wikipedia

PMID 13682677 . ^ a b c d e f g h i Cideciyan, A V; Hufnagel, R B; Carroll, J; Sumaroka, A; Luo, X; Schwartz, S B; Dubra, A; Land, M; Michaelides, M; Gardner, J C; Hardcastle, A J; Moore, A T; Sisk, R A; Ahmed, Z M; Kohl, S; Wissinger, B; Jacobson, S G (2013). ... PMID 19421413 . ^ a b c d e f g Michaelides, M; Johnson, S; Simunovic, M P; Bradshaw, K; Holder, G; Mollon, J D; Moore, A T; Hunt, D M (2005). ... PMC 1395698 . PMID 5313219 . ^ a b c Crognale, M A; Fry, M; Highsmith, J; Haegerstrom-Portnoy, G; Neitz, M; Neitz, J; Webster, M A (2004). ... PMID 20638402 . ^ Carroll, J; Baraas, R C; Wagner-Schuman, M; Rha, J; Siebe, C A; Sloan, C; Tait, D M; Thompson, S; Morgan, J I; Neitz, J; Williams, D R; Foster, D H; Neitz, M (2009). ... PMC 2791574 . PMID 19934058 . ^ Wagner-Schuman, M; Neitz, J; Rha, J; Williams, D R; Neitz, M; Carroll, J (2010).

OPN1MW, OPN1LW
Pancreatic Serous Cystadenoma Wikipedia

Since these lesions do not have malignant potential, long-term observation with imaging surveillance is unnecessary. [5] Surgery can include the removal of the head of the pancreas (a pancreaticoduodenectomy ), removal of the body and tail of the pancreas (a distal pancreatectomy ), or rarely removal of the entire pancreas (a total pancreatectomy). [7] In selected cases the surgery can be performed using minimally invasive techniques such as laparoscopy . [8] Epidemiology [ edit ] Serous cystadenomas of the pancreas are more common in women. [5] SCAs are usually diagnosed in people 50-60 years of age. [5] See also [ edit ] Ovarian serous cystadenoma Pancreatic mucinous cystadenoma Solid pseudopapillary neoplasm References [ edit ] ^ Jais, B; Rebours, V; Malleo, G; Salvia, R; Fontana, M; Maggino, L; Bassi, C; Manfredi, R; Moran, R; Lennon, AM; Zaheer, A; Wolfgang, C; Hruban, R; Marchegiani, G; Fernández Del Castillo, C; Brugge, W; Ha, Y; Kim, MH; Oh, D; Hirai, I; Kimura, W; Jang, JY; Kim, SW; Jung, W; Kang, H; Song, SY; Kang, CM; Lee, WJ; Crippa, S; Falconi, M; Gomatos, I; Neoptolemos, J; Milanetto, AC; Sperti, C; Ricci, C; Casadei, R; Bissolati, M; Balzano, G; Frigerio, I; Girelli, R; Delhaye, M; Bernier, B; Wang, H; Jang, KT; Song, DH; Huggett, MT; Oppong, KW; Pererva, L; Kopchak, KV; Del Chiaro, M; Segersvard, R; Lee, LS; Conwell, D; Osvaldt, A; Campos, V; Aguero Garcete, G; Napoleon, B; Matsumoto, I; Shinzeki, M; Bolado, F; Fernandez, JM; Keane, MG; Pereira, SP; Acuna, IA; Vaquero, EC; Angiolini, MR; Zerbi, A; Tang, J; Leong, RW; Faccinetto, A; Morana, G; Petrone, MC; Arcidiacono, PG; Moon, JH; Choi, HJ; Gill, RS; Pavey, D; Ouaïssi, M; Sastre, B; Spandre, M; De Angelis, CG; Rios-Vives, MA; Concepcion-Martin, M; Ikeura, T; Okazaki, K; Frulloni, L; Messina, O; Lévy, P (February 2016). ... PMID 26045140 . ^ Colonna, J.; Plaza, JA.; Frankel, WL.; Yearsley, M.; Bloomston, M.; Marsh, WL. (2008). ... PMID 18382099 . S2CID 28918883 . ^ Eras, M.; Yenigun, M.; Acar, C.; Kumbasar, B.; Sar, F.; Bilge, T. (2004).
Chronic Enteropathy Associated With Slco2a1 Gene Wikipedia

You can help by adding to it . ( November 2017 ) References [ edit ] ^ Okabe H, Sakimura M (1968) Nonspecific multiple ulcer of the small intestine. Stomach and Intestine 3: 1539–1549 ^ Matsumoto T, Iida M, Matsui T, Yao T, Watanabe H, Yao T, Okabe H (2004) Non-specific multiple ulcers of the small intestine unrelated to non-steroidal anti-inflammatory drugs. ... Gastrointest Endosc 66(3 Suppl):S99-107 ^ Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kosaki K, Kanai T, Kitazono T, Matsumoto T (2015) A hereditary enteropathy caused by mutations in the SLCO2A1 gene, encoding a prostaglandin transporter. PLoS Genet 5:11(11):e1005581. doi: 10.1371/journal.pgen.1005581 ^ Matsumoto T, Nakamura S, Esaki M, Yada S, Koga H, Yao T, Iida M (2006) Endoscopic features of chronic nonspecific multiple ulcers of the small intestine: comparison with nonsteroidal anti-inflammatory drug-induced enteropathy. Dig Dis Sci 51(8):1357-1363 ^ Yanai S, Yamaguchi S, Nakamura S, Kawasaki K, Toya Y, Yamada N, Eizuka M, Uesugi N, Umeno J, Esaki M, Okimoto E, Ishihara S, Sugai T, Matsumoto T (January 2019).
- Chronic Enteropathy Associated With Slco2a1 Gene Orphanet
  
  A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
Isolated Primary Immunoglobulin M Deficiency Wikipedia

Isolated primary immunoglobulin M deficiency Other names Selective IgM immunodeficiency Immunoglobulin M Specialty Hematology Isolated primary immunoglobulin M deficiency [1] is a poorly defined dysgammaglobulinemia characterized by decreased levels of IgM while levels of other immunoglobulins are normal. ... Notwithstanding a clear pathogenesis and commonly accepted definition, a cutoff for SIgMD could be the lower limit of the serum IgM reference range, such as 43 mg/dL [5] in adults or even 20 mg/dL. [6] See also [ edit ] Immunodeficiency with hyper-immunoglobulin M Immunoglobulin M List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... "Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis" .
- Selective Igm Deficiency Gard
  
  Selective IgM deficiency (SIgMD) is a rare immune disorder in which a person has no immunoglobulin M (IgM) antibodies, or too little IgM, with normal levels of IgG and IgA antibodies.
- Selective Igm Deficiency Orphanet
  
  A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.
Lujan–fryns Syndrome Wikipedia

S.; Lubs, H. A.; Verloes, A.; May, M. M.; Risheg, H.; Friez, M. J.; Futreal, P. ... PMID 17036352 . ^ a b c d Wittine, L. M.; Josephson, K. D.; Williams, M. S. ... E.; Carlin, M. E.; Lubs, H. A.; Opitz, J. M. (Jan 1984). ... PMID 12784307 . ^ Gambarin, F.; Favalli, V.; Serio, A.; Regazzi, M.; Pasotti, M.; Klersy, C.; Dore, R.; Mannarino, S.; Viganò, M.; Odero, A.; Amato, S.; Tavazzi, L.; Arbustini, E. ... M.; Moeschler, J. B.; Peiffer, A. P.; May, M.; Joseph, S.

MED12, ZDHHC9, UPF3B, FBN1, GLI3, MECP2, RCOR1
- Lujan-Fryns Syndrome Omim
  
  A number sign (#) is used with this entry because Lujan-Fryns syndrome is caused by mutation in the MED12 gene (300188) on chromosome Xq13. Opitz-Kaveggia syndrome (OKS; 305450) is an allelic disorder with an overlapping phenotype. Clinical Features Lujan et al. (1984) described 4 mentally retarded males in a large kindred with marfanoid habitus and similar craniofacial changes: long, narrow face, small mandible, high-arched palate, and hypernasal voice. Fryns and Buttiens (1987) described 2 pairs of mildly to moderately mentally retarded brothers with these same features. Lalatta et al. (1991) reported 4 sporadic cases and suggested that psychotic behavior may be a manifestation.
- X-Linked Intellectual Disability With Marfanoid Habitus Orphanet
  
  The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. Epidemiology The syndrome affects predominantly males. The prevalence in the general population is not known. Clinical description Patients present tall stature, long hyper-extensible fingers and toes, short halluces and long second toes. Patients have mild to moderate intellectual disability. Craniofacial features include long forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge, short and deep philtrum, thin upper lip and highly arched palate. The marfanoid stature becomes evident after puberty. In adulthood, patients are tall but height is in the normal range.
- Lujan Syndrome Medlineplus
  
  Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations.
- Mental Retardation, X-Linked, Syndromic 14 Omim
  
  A number sign (#) is used with this entry because X-linked syndromic mental retardation-14 (MRXS14) is caused by mutation in the UPF3B gene (300298), which is involved in nonsense-mediated decay of mRNA transcripts, on chromosome Xq24. Some patients have nonsyndromic mental retardation. Clinical Features Tarpey et al. (2007) reported 4 unrelated families with X-linked mental retardation. Although the phenotype was variable, common features included mild to severe mental retardation, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. Two families had been diagnosed as having Lujan-Fryns syndrome (309520) and 1 as having Opitz-Kaveggia syndrome (OKS; 305450). One of the families had been reported by Graham et al. (1998). Xu et al. (2013) reported a large Chinese family in which 3 living males and 1 deceased male had nonsyndromic mild mental retardation.
- Lujan Syndrome Gard
  
  Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.
Macrocephaly-Capillary Malformation Wikipedia

PMID 22658544 . ^ Lee, JH.; Huynh, M.; Silhavy, JL.; Kim, S.; Dixon-Salazar, T.; Heiberg, A.; Scott, E.; Bafna, V.; et al. (2012). ... PMID 10710221 . ^ Robertson SP, Gattas M, Rogers M, Adès LC (2000). "Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature" . ... PMID 10649789 . ^ Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, et al. (2007). ... PMID 22329570 . ^ Erener Ercan, T.; Oztunc, F.; Celkan, T.; Bor, M.; Kizilkilic, O.; Vural, M.; Perk, Y.; Islak, C.; Tuysuz, B. ... "Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM)" .

PIK3CA, PIK3R2, AKT3, AKT1, MMUT, MTOR, NF1, PIK3CB, PIK3CD, PIK3CG, CCR5, PTPN11, RASA1, CDC45, SYNGAP1, BRD4, CD274, MCM10
- Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Omim
  
  A number sign (#) is used with this entry because some cases of megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) have been found to have somatic mutations in the PIK3CA gene (171834) on chromosome 3q26. Description Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. Clinical Features Moore et al. (1997) described 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature.
- Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Orphanet
  
  A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies. Epidemiology Over 200 patients have been reported without sex predominance. Clinical description Symptoms are usually recognizable at birth. Their severity varies widely among patients. Megalencephaly is a major clinical feature (MEG: occipitofrontal circumference [OFC] greater than or equal to 3 SD above the mean), which sometimes progresses to hydrocephaly, malformations of cortical development with polymicrogyria and Chiari malformation. Cutaneous capillary anomalies are often scattered over the limbs, palms, soles and trunk, are frequently pink/red and are aggravated by crying and emotions.
- Megalencephaly-Capillary Malformation Syndrome Medlineplus
  
  Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In individuals with MCAP, megalencephaly leads to an unusually large head size (macrocephaly ), which is typically evident at birth. After birth, the brain and head continue to grow at a fast rate for the first few years of life; then, the growth slows to a normal rate, although the head remains larger than average. Additional brain abnormalities are common in people with MCAP; these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as those known as Chiari malformation and polymicrogyria.
Mucinous Cystic Neoplasm Wikipedia

Mucinous cystic neoplasms of the liver are a type of liver cancer in which tissue similar to the stroma of ovary occurs. [1] References [ edit ] ^ Kishida, N; Shinoda, M; Masugi, Y; Itano, O; Fujii-Nishimura, Y; Ueno, A; Kitago, M; Hibi, T; Abe, Y; Yagi, H; Tanimoto, A; Tanabe, M; Sakamaoto, M; Kitagawa, Y (21 July 2014).
Coffin–siris Syndrome Wikipedia

References [ edit ] ^ Levy P, Baraitser M (May 1991). "Coffin-Siris syndrome" . ... Retrieved 13 June 2015 . ^ Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC (August 2009). ... Retrieved 13 June 2015 . ^ Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K (November 2014). ... PMID 24569609 . ^ Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (June 2014). ... PMID 24886874 . ^ Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES, Joss S (April 2018).

ARID1B, ARID1A, SMARCE1, SOX11, SMARCB1, SMARCA4, SMARCA1, SMARCA2, DPF2, ARID2, PHF6, SOX4, SMARCC2, BANF1, WG, SDHD, IL10, SDHB, SDHC, CMAS, IL17RB, CCL26, FAM3C, SDS, NIPBL, PTPN22, SMARCAL1, WNT16, PGR, TNFRSF10C, MYDGF, CD14, IL25, CPED1, ATR, ATM, SARDH, TNF, TNFSF10, EDN1, PRTN3, MPO, SET, MMP9, MMP2, ITGB2, IL5, FASLG, SORD, HLA-DRB4, HLA-DRB1, TRBV20OR9-2, TGFB1, TGFB2, PREP, FAS
- Coffin-Siris Syndrome Gene_reviews
  
  Summary Clinical characteristics. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment. Diagnosis/testing. Before the molecular basis was known, the diagnosis of CSS was based on clinical findings. With the recent detection of heterozygous pathogenic variants in ARID1A , ARID1B , SMARCA4 , SMARCB1 , SMARCE1 , or SOX11 in some (but not all) individuals with CSS, the diagnostic features have become more clearly described for classic cases.
- Coffin-Siris Syndrome Orphanet
  
  A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations. Epidemiology More than 150 cases of genetically confirmed Coffin-Siris syndrome (CSS) have been clinically reported to date. Exact prevalence and incidence are not known but the disorder is probably under-recognized. Clinical description Coffin-Siris syndrome is a clinically and genetically heterogeneous disorder. It involves a wide range of major and minor clinical findings. Characteristic major features include mild to severe developmental or cognitive delay (in all patients), fifth finger nail/distal phalanx hypoplasia or aplasia (almost all patients at birth), and coarse facial features (commonly observed over time).
- Coffin-Siris Syndrome 9 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-9 (CSS9) is caused by heterozygous mutation in the SOX11 gene (600898) on chromosome 2p25. Description Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails (Tsurusaki et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Tsurusaki et al. (2014) applied whole-exome sequencing to 92 patients meeting the diagnostic criteria for Coffin-Siris syndrome (CSS; 135900) and identified 2 de novo SOX11 mutations in 2 unrelated female patients. Both patients showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.
- Coffin-Siris Syndrome 6 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-6 (CSS6) is caused by heterozygous mutation in the ARID2 gene (609539) on chromosome 12q12. Description Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
- Coffin-Siris Syndrome 1 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-1 (CSS1) is caused by heterozygous mutation in the ARID1B gene (614556) on chromosome 6q25. Description Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris Syndrome Forms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor.
- Coffin-Siris Syndrome 8 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-8 (CSS8) is caused by heterozygous mutation in the SMARCC2 gene (601734) on chromosome 12q13. Description Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose (Machol et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features As part of a study of 119 patients with undiagnosed genetic disorders analyzed by whole-exome sequencing, Zhu et al. (2015) identified a 7-year-old boy with failure to thrive, benign hydrocephalus, speech delay, hypotonia, elevated lactate and ammonia, vitiligo, and developmental delay.
- Coffin-Siris Syndrome 4 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-4 (CSS4) is caused by heterozygous mutation in the SMARCA4 gene (603254) on chromosome 19p13. The SMARCA4 gene is one of several genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. Description Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
- Coffin-Siris Syndrome 5 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-5 (CSS5) is caused by heterozygous mutation in the SMARCE1 gene (603111) on chromosome 17q21. Description Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
- Coffin-Siris Syndrome Medlineplus
  
  Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most affected individuals have facial features described as coarse.
- Coffin-Siris Syndrome 3 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-3 (CSS3) is caused by heterozygous mutation in the SMARCB1 gene (601607) on chromosome 22q11. The SMARCB1 gene is one of several genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. Description Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
- Coffin-Siris Syndrome 2 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-2 (CSS2) is caused by heterozygous mutation in the ARID1A gene (603024) on chromosome 1p36. Description Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.
- Coffin-Siris Syndrome 7 Omim
  
  A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-7 (CSS7) is caused by heterozygous mutation in the DPF2 gene (601671) on chromosome 11q13. Description Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Vasileiou et al. (2018) reported 8 unrelated patients with a neurodevelopmental disorder consistent with CSS. The patients, who ranged in age from 3 to 18 years, were ascertained from several collaborative groups.
- Coffin-Siris Syndrome Gard
  
  Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A , ARID1B , SMARCA4 , SMARCB1 , DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.
Leber Hereditary Optic Neuropathy Gene_reviews

The diagnosis of LHON is established in a proband with bilateral, painless, subacute visual failure that develops during young adult life and/or by the identification of one of three common mtDNA pathogenic variants (m.3460G>A in MT-ND1 , m.11778G>A in MT-ND4 , or m.14484T>C in MT-ND6 ) on molecular genetic testing. ... Following the nadir, visual acuity may improve; such improvement is more likely in individuals with the m.14484T>C pathogenic variant than in those with the m.11778G>A or m.3460G>A pathogenic variant (see Genotype-Phenotype Correlations). ... Genotype-Phenotype Correlations Some broad categorization can be made with regard to specific LHON-causing pathogenic variants: m.3460G>A is associated with the worst impairment in visual function. m.11778G>A has an intermediate phenotype. m.14484T>C is associated with the best long-term visual outcome. ... Lifetime Risk for Visual Failure in Individuals with a Homoplasmic Primary LHON-Causing Mitochondrial DNA Pathogenic Variant by Study View in own window Mitochondrial DNA Pathogenic Variant Risk of Developing Symptoms Median Age at Onset (Males) Male/Female Ratio Reference Males Females m.3460G>A 32% 15% 20 yrs 4.3:1 Nikoskelainen [1994] m.3460G>A 49% 28% 22 yrs 1.7:1 Yu-Wai-Man et al [2003] m.11778G>A 43% 11% 24 yrs 3.7:1 Harding et al [1995] m.11778G>A 51% 9% 22 yrs 5.1:1 Yu-Wai-Man et al [2003] m.14484T>C 47% 8% 20 yrs 7.7:1 Macmillan et al [1998] A multiple sclerosis-like illness has been reported in association with all three primary mtDNA LHON-causing pathogenic variants (m.3460G>A, m.11778G>A, and m.14484T>C), but with a female bias [Pfeffer et al 2013]. ... In total, 85 affected individuals harboring one of the three primary mtDNA LHON-causing variants (m.3460G>A, m.11778G>A, and m.14484T>C) were successfully enrolled in this multicenter study [Klopstock et al 2013].

ND6, ND1, ND4, ND5, ND4L, ATP6, CYTB, COX3, ND2, RPE65, NDUFS2, COX1, IL1B, IL1A, LRAT, CPLX1, OPA1, TBC1D24, PARL, OPA3, CEP290, NDUFA1, CRYZ, FXN, MFN2, PLXNA2, NPTX2, SOD2, RP2, SPG7, RPGR, TAP2, SCN1A, TFPI, TFAM, ABCA4, TK2, TWNK, GGT2, POTEF, GGTLC3, GGTLC5P, SLC26A5, GLIS3, GMCL2, GMCL1, RPGRIP1, ADI1, TP53, NDUFB11, YARS2, GCA, AIPL1, KIF1B, IMMT, OPTN, COX5A, PHLDA2, POLG, RNR2, SERPINA1, PGD, ERG, EPHX1, ENO2, ENDOG, TIMM8A, ACE, CPOX, COX8A, CAT, CASP3, BNIP3L, BNIP3, AR, AQP4, AMD1P2, AMD1, AKR1B1, ESR2, GGT1, GCLC, MAS1, TRNK, TRNF, ACTB, RNR1, MTHFR, COX2, TRNC, MAPT, GRIA1, TACSTD2, KRT10, HLA-B, HLA-A, GSR, GRM2, GRIA2, GGTLC4P
- Leber Optic Atrophy, Susceptibility To Omim
  
  In 95% of cases worldwide, Leber hereditary optic atrophy (LHON) is due to 1 of 3 point mutations of mitochondrial DNA in genes that code for complex I of the respiratory chain: 3460G-A in MTND1 (516000.0001), 11778G-A in MTND4 (516003.0001), and 14484T-C in MTND6 (516006.0001). That only approximately 50% of male and 10% of female mutation carriers develop symptoms (Newman, 2002) indicates a requirement for additional genetic or environmental factors for phenotypic expression of LHON. Epidemiologic studies failed to substantiate anecdotal reports of a link with excess alcohol and tobacco (Kerrison et al., 2000). Bu and Rotter (1991) concluded that available pedigree data on LHON are most consistent with a 2-locus disorder, with one responsible gene being mitochondrial and the other nuclear and X chromosome-linked. They demonstrated that a proportion of affected females are probably heterozygous at the X chromosome-linked locus and are affected due to unfortunate X chromosome inactivation, thus providing an explanation for the later age of onset in females.
- Leber Hereditary Optic Neuropathy Gard
  
  Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss. Vision loss is typically the only symptom of LHON. Some families with additional signs and symptoms have been reported and are said to have " LHON plus ", a condition which includes vision loss, tremors, and abnormalities of the electrical signals that control the heartbeat ( cardiac conduction defects ). Some affected individuals develop features similar to multiple sclerosis . LHON is caused by mutations in the MT-ND1 , MT-ND4 , MT-ND4L , and MT-ND6 genes. LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family.
- Leber Hereditary Optic Neuropathy Medlineplus
  
  Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months.
- Leber Hereditary Optic Neuropathy Orphanet
  
  Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. Epidemiology Prevalence of the disease is not well known but is estimated at 1/15,000 - 1/50,000 people worldwide. Clinical description Sudden, painless, acute or subacute central vision loss is often noted between the ages of 18 to 30. It affects both eyes simultaneously or sequentially with vision loss in the second eye occurring weeks to months after the first. Visual loss generally occurs subacutely (over a period of several weeks) and then stabilizes.
- Leber Optic Atrophy Omim
  
  A number sign (#) is used with this entry because Leber optic atrophy, also known as Leber hereditary optic neuropathy (LHON), can be caused by mutation in multiple genes encoded by the mitochondrial genome (mtDNA). Description LHON presents in midlife as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with many missense mutations in the mtDNA that can act autonomously or in association with each other to cause the disease. The 18 allelic variants are MTND6*LDYT14459A (516006.0002); MTND4*LHON11778A (516003.0001); MTND1*LHON3460A (516000.0001); MTND6*LHON14484C (516006.0001); MTCYB*LHON15257A (516020.0001); MTCO3*LHON9438A (516050.0001); MTCO3*LHON9804A (516050.0002 ); MTND5*LHON13730A (516005.0002); MTND1*LHON4160C (516000.0002); MTND2*LHON5244A (516001.0002); MTCOI*LHON7444A (516030.0001); MTND1*LHON3394C (516000.0004); MTND5*LHON13708A (516005.0001); MTCYB*LHON15812A (516020.0002); MTND2*LHON4917G (516001.0001); MTND1*LHON4216C (516000.0003); MTND1*LHON4136G (516000.0002); MTATP6*LHON9101C (516060.0003); MTND4L*LHON10663C (516004.0002). The first 17 of these variants are summarized in Table M1, MIM12. As pointed out by Riordan-Eva and Harding (1995), although the plethora of mtDNA mutations identified in families with LHON had resulted in confusion as to the pathogenic significance of each mutation, it had been established that the 3 primary mutations at basepairs 11778 (516003.0001), 3460 (516000.0001), and 14484 (516006.0001) are present in at least 90% of families.
- Leber's Hereditary Optic Neuropathy Wikipedia
  
  Retrieved February 25, 2018 . ^ a b c Klopstock, T.; Yu-Wai-Man, P.; Dimitriadis, K.; Rouleau, J.; Heck, S.; Bailie, M.; Atawan, A.; Chattopadhyay, S.; Schubert, M.; Garip, A.; Kernt, M.; Petraki, D.; Rummey, C.; Leinonen, M.; Metz, G.; Griffiths, P. ... PMID 17471325 . ^ World Health Organization (2009). Stuart MC, Kouimtzi M, Hill SR (eds.). WHO Model Formulary 2008 . ... PMC 2875160 . PMID 20393463 . ^ Haefeli RH, Erb M, Gemperli AC, Robay D, Courdier Fruh I, Anklin C, Dallmann R, Gueven N (March 2011). ... PMID 9477226 . ^ Giordano, C.; Iommarini, L; Giordano, L; Maresca, A; Pisano, A; Valentino, M L; Caporali, L; Liguori, R; Deceglie, S; Roberti, M; Fanelli, F; Fracasso, F; Ross-Cisneros, F N; D’Adamo, P; Hudson, G; Pyle, A; Yu-Wai-Man, P; Chinnery, P F; Zeviani, M; Salomao, S R; Berezovsky, A; Belfort Jr, R; Ventura, D F; Moraes, M; Filho, M.M.; Barboni, P; Sadun, F; De Negri, A; Sadun, A.A.; Tancredi, A; Mancini, M; d’Amati, G; Polosa, P L; Cantatore, P; Carelli, V (2013). ... PMID 24369379 . ^ a b Giordano, C.; Montopoli, M; Perli, E; Orlandi, M; Fantin, M; Ross-Cisneros, F.N.
Tuberculous Meningitis Wikipedia

Acid-fast bacilli are sometimes seen on a CSF smear, but more commonly, M. tuberculosis is grown in culture. [11] A spiderweb clot in the collected CSF is characteristic of TB meningitis, but is a rare finding. ... Retrieved 2015-06-02 . ^ Leach, Richard M. (2010-06-11). Acute and Critical Care Medicine at a Glance . ... External links [ edit ] Classification D ICD - 10 : A17.0 , G01 ICD - 9-CM : 013.0 , 322.9 MeSH : D014390 External resources MedlinePlus : 000650 eMedicine : neuro/385 Scholia has a topic profile for Tuberculous meningitis . v t e Gram-positive bacterial infection : Actinobacteria Actinomycineae Actinomycetaceae Actinomyces israelii Actinomycosis Cutaneous actinomycosis Tropheryma whipplei Whipple's disease Arcanobacterium haemolyticum Arcanobacterium haemolyticum infection Actinomyces gerencseriae Propionibacteriaceae Propionibacterium acnes Corynebacterineae Mycobacteriaceae M. tuberculosis / M. bovis Tuberculosis : Ghon focus / Ghon's complex Pott disease brain Meningitis Rich focus Tuberculous lymphadenitis Tuberculous cervical lymphadenitis cutaneous Scrofuloderma Erythema induratum Lupus vulgaris Prosector's wart Tuberculosis cutis orificialis Tuberculous cellulitis Tuberculous gumma Lichen scrofulosorum Tuberculid Papulonecrotic tuberculid Primary inoculation tuberculosis Miliary Tuberculous pericarditis Urogenital tuberculosis Multi-drug-resistant tuberculosis Extensively drug-resistant tuberculosis M. leprae Leprosy : Tuberculoid leprosy Borderline tuberculoid leprosy Borderline leprosy Borderline lepromatous leprosy Lepromatous leprosy Histoid leprosy Nontuberculous R1 : M. kansasii M. marinum Aquarium granuloma R2 : M. gordonae R3 : M. avium complex / Mycobacterium avium / Mycobacterium intracellulare / MAP MAI infection M. ulcerans Buruli ulcer M. haemophilum R4 / RG : M. fortuitum M. chelonae M. abscessus Nocardiaceae Nocardia asteroides / Nocardia brasiliensis / Nocardia farcinica Nocardiosis Rhodococcus equi Corynebacteriaceae Corynebacterium diphtheriae Diphtheria Corynebacterium minutissimum Erythrasma Corynebacterium jeikeium Group JK corynebacterium sepsis Bifidobacteriaceae Gardnerella vaginalis v t e Meningitis and other diseases of meninges Meningitis Arachnoiditis Bacterial Tuberculous Haemophilus Pneumococcal Viral Herpesviral Fungal Cryptococcal Aseptic Drug-induced Other Meningoencephalitis

BBS9, CSF2, LAMC2, ADA, LTA4H, MMP9, IFNG, RHOF, TLR2, RNF34, NCAPG2, MT1JP, TIRAP, IL10, CRP, TNF, IL1B, IL13, THEMIS, BECN1, ZNF410, VEGFA, CCN6, MIR29A, TTR, TRC-GCA24-1, VDR, GDF15, C1QTNF4, ARTN, SMUG1, AGO2, TIMP2, DLL1, CD274, RMC1, VSX1, TLR9, NAT2, SAA2, TIMP1, SPN, ADSL, AGRP, ALOX5, CAMP, CAT, CSF3, ESR1, GC, CFH, HPD, IL2, IL4, IL6, CXCL8, IL12B, IL17A, CXCL10, INS, MMP2, MUC5AC, NCAM1, SAA1, CCL1, CCL2, CCL3, SIGLEC14
- Tuberculous Meningitis Orphanet
  
  A rare bacterial infectious disease caused by Mycobacterium tuberculosis , characterized by a variable clinical picture comprising classic manifestations of meningitis, i. e. headache, fever, and stiff neck, in addition to cranial nerve palsies (most commonly III, VI, and VII), altered mental status, and seizures, among others. Basal meningeal enhancement in neuroimaging, cerebrospinal fluid abnormalities (moderate lymphocytic pleocytosis, moderately elevated protein concentration, low glucose), and a chest x-ray suggestive of pulmonary tuberculosis may support the diagnosis.
Plasma Cell Granuloma Wikipedia

Localization [ edit ] Lung [3] [4] See also [ edit ] Pulmonary hyalinizing granuloma References [ edit ] ^ Dias, O. M.; Kawassaki Ade, M; Haga, H; Cukier, A; Carvalho, C. ... PMID 22086532 . ^ Nonomura, A; Mizukami, Y; Matsubara, F; Shimizu, J; Oda, M; Watanabe, Y; Kamimura, R; Takashima, T; Kitagawa, M (1992). ... PMID 1392177 . ^ Nonomura, A; Mizukami, Y; Matsubara, F; Shimizu, J; Oda, M; Watanabe, Y; Kamimura, R; Takashima, T; Kitagawa, M (1992).

ALK, RANBP2
Ichthyosis With Confetti Wikipedia

.; Palcesky, D.; Busbey, S.; Medenica, M. (2003). "Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature" . ... Nature . doi : 10.1038/news.2010.434 . ^ a b Kretzschmar, Kai; Watt, Fiona M. (2012). "Lineage Tracing" . Cell . 148 (1–2): 33–45. doi : 10.1016/j.cell.2012.01.002 . PMID 22265400 . ^ Choate, K. A.; Lu, Y.; Zhou, J.; Choi, M.; Elias, P. M.; Farhi, A.; Nelson-Williams, C.; Crumrine, D.; Williams, M. L.; Nopper, A. J.; Bree, A.; Milstone, L. M.; Lifton, R. P. (2010). "Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10" .

KRT10, KRT1, TMEM99, KRT2
- Ichthyosis With Confetti Medlineplus
  
  Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time. In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs.
- Erythroderma, Ichthyosiform, Congenital Reticular Omim
  
  A number sign (#) is used with this entry because of evidence that congenital reticular ichthyosiform erythroderma (CRIE) is caused by heterozygous mutation in the KRT10 gene (148080) on chromosome 17q21. Description Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC), is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis (summary by Krunic et al., 2003).
Migrainous Infarction Wikipedia

CS1 maint: DOI inactive as of January 2021 ( link ) ^ a b c d e Viana, M.; Linde, M.; Sances, G.; Ghiotto, N.; Guaschino, E.; Allena, M.; Terrazzino, S.; Nappi, G.; Goadsby, P. ... PMID 9565010 . ^ a b Montaner, J.; Perea-Gainza, M.; Delgado, P.; Ribó, M.; Chacón, P.; Rosell, A.; Quintana, M.; Palacios, M. ... S2CID 1690024 . ^ Wessels, T.; Röttger, C.; Jauss, M.; Kaps, M.; Traupe, H.; Stolz, E. (2005-04-01). ... PMID 15746460 . S2CID 15123728 . ^ Jauss, M.; Wessels, T.; Trittmacher, S.; Allendörfer, J.; Kaps, M. (2006-08-01). ... S2CID 53549605 . ^ a b Hacke, W.; Kaste, M.; Bluhmki, E.; Brozman, M.; Dávalos, A.; Guidetti, D.; Larrue, V.; Lees, K.
Narp Syndrome Orphanet

Etiology NARP syndrome is caused in the large majority of patients by a m.8993T>C/G in the subunit 6 of mitochondrial H(+)-ATPase gene ( MTATP6 ). Most NARP patients have 70-90% mutated mitochondrial DNA. The m.8993T>G mutation is also present in 8-10% of patients with Leigh syndrome when mutated mitochondrial DNA is > 90%. Less common ATP6 heteroplasmic mutations include m.8839G>C, m.8989G>C, m.8618-8619insT, m.9032T>C, and m.9127-9128 delAT microdeletion, all identified in single families.

ATP6, NPTX2, ATM, ATP8, MFN2, KIF1B, ATP11A
- Neuropathy, Ataxia, And Retinitis Pigmentosa Omim
  
  A number sign (#) is used with this entry because of evidence that NARP syndrome is caused by mutation in the gene encoding subunit 6 of mitochondrial H(+)-ATPase (MTATP6; 516060). Clinical Features Holt et al. (1990) described a family in which 4 members showed a variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy, in a pedigree pattern consistent with maternal transmission. There was no histochemical evidence of mitochondrial myopathy. Blood and muscle from the patients contained 2 populations of mitochondrial DNA, one of which had a previously unreported restriction site for AvaI. Sequence analysis showed that this new restriction site was the consequence of a point mutation at nucleotide 8993 of the MTATP6 gene, resulting in an amino acid change from a highly conserved leucine to arginine in mitochondrial H(+)-ATPase (8993T-G; 516060.0001). There was some correlation between clinical severity and the amount of mutant mitochondrial DNA in the patients; this was present in only small amounts in the blood of healthy elderly relatives in the same maternal line.
- Neuropathy, Ataxia, And Retinitis Pigmentosa Wikipedia
  
  University of Washington, Seattle. PMID 20301352 . ^ Rak, M; Tetaud, E; Duvezin-Caubet, S; Ezkurdia, N; Bietenhader, M; Rytka, J; di Rago, JP (Nov 23, 2007). ... Retrieved 27 September 2014 . ^ Mattiazzi, M; Vijayvergiya, C; Gajewski, CD; DeVivo, DC; Lenaz, G; Wiedmann, M; Manfredi, G (Apr 15, 2004). ... PMID 14998933 . ^ Debray, FG; Lambert, M; Lortie, A; Vanasse, M; Mitchell, GA (Sep 1, 2007).
- Neuropathy, Ataxia, And Retinitis Pigmentosa Medlineplus
  
  Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition typically begins in childhood or early adulthood, and the signs and symptoms usually worsen over time. Most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa.
- Neuropathy Ataxia Retinitis Pigmentosa Syndrome Gard
  
  Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination ( ataxia ). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa . Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects . Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA).
Distal Spinal Muscular Atrophy Type 1 Wikipedia

M.; Lombardo, F.; Crisafulli, G.; De Luca, F. (2011). ... PMID 16964485 . ^ a b c d e f g Kaindl, A. M.; Guenther, U. -P.; Rudnik-Schoneborn, S.; Varon, R.; Zerres, K.; Schuelke, M.; Hubner, C.; Von Au, K. (2007). ... H.; Finkel, R. S.; Bertini, E. S.; Schroth, M.; Simonds, A.; Wong, B.; Aloysius, A.; Morrison, L.; Main, M.; Crawford, T. ... Journal of Child Neurology . 23 (2): 199–204. doi : 10.1177/0883073807310989 . PMID 18263757 . Messina, M. F.; Messina, S.; Gaeta, M.; Rodolico, C.; Salpietro Damiano, A. M.; Lombardo, F.; Crisafulli, G.; De Luca, F. (2011).

IGHMBP2, SMN1, SMN2, ACTB, CSF2, FUT4, LAMC2, CXCR4, LAS1L, POTEF
- Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 Omim
  
  A number sign (#) is used with this entry because autosomal recessive distal spinal muscular atrophy-1 (DSMA1), also referred to as spinal muscular atrophy with respiratory distress (SMARD1) and distal hereditary motor neuronopathy type VI (dHMN6 or HMN6), is caused by homozygous or compound heterozygous mutation in the IGHMBP2 gene (600502) on chromosome 11q13. Biallelic mutations in the IGHMBP2 gene can also cause axonal Charcot-Marie-Tooth disease type 2S (CMT2S; 616155), a less severe neurologic phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960). Clinical Features Mellins et al. (1974) and Bertini et al. (1989) delineated diaphragmatic spinal muscular atrophy (SMA) as a variant of infantile SMA (SMA1; 253300). The most prominent symptoms are severe respiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominant involvement of the upper limbs and distal muscles.
- Spinal Muscular Atrophy With Respiratory Distress Type 1 Medlineplus
  
  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation).
- Spinal Muscular Atrophy With Respiratory Distress Type 1 Orphanet
  
  Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
Elastofibroma Dorsi Wikipedia

.; Grimer, R. J.; Carter, S. R.; Tillman, R. M.; Abudu, A.; Davies, A. M.; Sumathi, V. ... PMID 18382611 . ^ a b c d Briccoli, A.; Casadei, R.; Di Renzo, M.; Favale, L.; Bacchini, P.; Bertoni, F. (2000). ... PMID 10664338 . ^ a b c d e f Mortman, K. D.; Hochheiser, G. M.; Giblin, E. M.; Manon-Matos, Y.; Frankel, K. M. (2007). "Elastofibroma Dorsi: Clinicopathologic Review of 6 Cases". ... M.; Saifuddin, A.; Pollock, R. C.; Skinner, J.

CD34, ELN, FOLH1, TNC, POSTN
- Elastofibroma Dorsi Orphanet
  
  Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.
Multifocal Micronodular Pneumocyte Hyperplasia Wikipedia

.; Leslie, K. O.; Popper, H; Kitaichi, M; Gagné, E; Emelin, J. K.; Vinters, H. ... The American Journal of Surgical Pathology . 22 (4): 465–72. doi : 10.1097/00000478-199804000-00012 . PMID 9537475 . ^ Ishii, M; Asano, K; Kamiishi, N; Hayashi, Y; Arai, D; Haraguchi, M; Sugiura, H; Naoki, K; Tasaka, S; Soejima, K; Sayama, K; Betsuyaku, T (2012). ... PMID 22884294 . ^ Shintani, Y; Ohta, M; Iwasaki, T; Ikeda, N; Tomita, E; Nagano, T; Kawahara, K (2010). ... PMID 20190710 . ^ Kobashi, Y; Sugiu, T; Mouri, K; Irei, T; Nakata, M; Oka, M (2008). "Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: Differentiation from multiple atypical adenomatous hyperplasia" . ... PMID 9331299 . ^ Fujitaka, K; Isobe, T; Oguri, T; Yamasaki, M; Miyazaki, M; Kohno, N; Takeshima, Y; Inai, K (2002).

TSC1, TSC2, MTOR, SFTPD, SFTPA1, SFTPA2
Congenital Amegakaryocytic Thrombocytopenia Wikipedia

It is known for patients to continue to create very small numbers of platelets over time. [ citation needed ] See also [ edit ] Thrombopoietin Myeloproliferative leukemia virus oncogene References [ edit ] ^ Ballmaier M, Germeshausen M, Schulze H, et al. ... Blood . 97 (1): 139–46. doi : 10.1182/blood.V97.1.139 . PMID 11133753 . ^ Germeshausen M, Ballmaier M, Welte K (March 2006). ... S2CID 23164119 . ^ a b Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Good RA, Hara T (1999). ... PMC 15907 . PMID 10077649 . ^ Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, Krukemeier S, Eilers M, Strauss G, Welte K (2001). ... PMID 11133753 . ^ King S, Germeshausen M, Strauss G, Welte K, Ballmaier M (December 2005).

MPL, THPO, RUNX1, CD34, MECOM, HOXA11, IL3
- Amegakaryocytic Thrombocytopenia, Congenital Omim
  
  A number sign (#) is used with this entry because of evidence that congenital amegakaryocytic thrombocytopenia (CAMT) can be caused by homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL; 159530) on chromosome 1p34. Description Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later. Clinical Features Muraoka et al. (1997) found that a patient with CAMT had a defective response to thrombopoietin (TPO; 600044) in megakaryocyte-colony formation, decreased numbers of erythroid and myelocytic progenitors in clonal cultures, a lack of MPL mRNA in bone marrow mononuclear cells, and an elevated serum level of TPO.
- Congenital Amegakaryocytic Thrombocytopenia Orphanet
  
  An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. Epidemiology Congenital amegakaryocytic thrombocytopenia (CAMT) prevalence is unknown and less than 100 cases have been reported in the literature. In addition, the incidence may be underestimated due to difficult and inconsistent diagnosis of the disease. Clinical description CAMT manifests since birth, often in the first day or at least within the first month of life, with petechiae, purpura, and gastrointestinal, pulmonary or intracranial hemorrhage due to isolated thrombocytopenia and a near absence of megakaryocytes in the bone marrow. Two types of CAMT have been identified. Type I-CAMT is the severe form of the disease and is characterized by persistently low platelet counts and early progression (usually by the age of 2 years) to bone marrow aplasia associated with pancytopenia.
Mycobacterium Avium-Intracellulare Infection Wikipedia

It is typically treated with a series of three antibiotics for a period of at least six months. M. avium , M. intracellulare , and M. chimaera are each saprotrophic organisms present in soil and water; entry into hosts is usually via the gastrointestinal tract , but also can be via the lungs . ... M. avium typically causes unilateral swelling of one of the lymph nodes of the neck. ... M. avium , M. intracellulare , and M. chimaera . [4] It causes Mycobacterium avium-intracellulare infection. [5] [6] Some sources also include Mycobacterium avium subspecies paratuberculosis (MAP). [7] Risk factors [ edit ] MAI is common in immunocompromised individuals, including senior citizens and those with HIV/AIDS or cystic fibrosis . ... MMWR Recomm Rep . 42 (RR-9): 14–20. PMID 8393134 . ^ Wickremasinghe M, Ozerovitch LJ, Davies G, et al. (December 2005). ... ISSN 0012-3692 . PMID 1600780 . ^ Reich, Jerome M. (August 2018). "In Defense of Lady Windermere Syndrome" .

HSPD1, TNF, SLC11A1, IFNG, NTM, STAT1, STAT4, TLR2, TNFSF4, TP63, TNFSF9, ARHGEF2, IL32, AIM2, RABEPK, LANCL1, STS, PSMD7, IL37, PYCARD, IL23A, NCAPG2, RGMA, MLIP, NLRP3, IL31RA, ARMH1, MIR346, AK6, EBNA1BP2, MAPK1, CAMP, IFNA13, CASP1, TNFSF8, CD70, CFTR, CCR5, FCN2, GATA2, HLA-B, HSPE1, ICAM1, IFNA1, IFNB1, NMT1, IL1B, IL2, IL9, IL12RB1, TNFRSF9, IL17A, CXCL10, RPSA, CXCL9, MT1JP, RNR1, H3P28
- Mycobacterium Avium Complex Infections Gard
  
  Mycobacterium avium complex (MAC) refers to infections caused by two types of bacteria: Mycobacterium avium and Mycobacterium intracellulare . MAC bacteria do not make most people sick. However, people with immune systems that do not work well (from HIV/AIDS or certain cancers for example) or people with lung disease (such as chronic obstructive pulmonary disease (COPD) or cystic fibrosis) are at the greatest risk for getting sick from MAC Infections. Elderly women are also at higher risk to get sick from MAC infections. There are 3 types of MAC infections. Pulmonary MAC infections - Affect the lungs and are the most common type. These mainly affect elderly women and people who already have lung disease.