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Congenital Muscular Dystrophy Wikipedia

Congenital Muscular Dystrophy Overview . Seattle (WA): University of Washington, Seattle. ... LAMA2-Related Muscular Dystrophy . Seattle (WA): University of Washington, Seattle.

COL6A3
Cantú Syndrome Wikipedia

.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.

ABCC9, KCNJ8, MED23, GH1
- Cantu Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that hypertrichotic osteochondrodysplasia (Cantu syndrome) is caused by heterozygous mutation in the ABCC9 gene (601439) on chromosome 12p12. Description Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair which extends onto the forehead and to a general increase in body hair. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat.
- Cantú Syndrome GeneReviews
  
  Summary Clinical characteristics. Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression. Diagnosis/testing. The diagnosis of Cantú syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in ABCC9 or KCNJ8 identified by molecular genetic testing.
- Hypertrichotic Osteochondrodysplasia, Cantu Type Orphanet
  
  Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. Epidemiology To date, fewer than 30 cases have been reported. Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia. Affected individuals have hypertrichosis with thick scalp hair extending onto the forehead and generalized increased body hair. Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. Additional findings in most patients included thickened calvarium, broad ribs and metaphyseal widening of long bones with enlarged medullary canals.
- Cantú Syndrome MedlinePlus
  
  Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cantú syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly ) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds ), and a wide mouth with full lips.
Necrolytic Migratory Erythema Wikipedia

. ^ van Beek AP, de Haas ER, van Vloten WA, Lips CJ, Roijers JF, Canninga-van Dijk MR (November 2004).

GCG, SST
Aseptic Meningitis Wikipedia

ISSN 0002-838X . ^ a b Jolles S, Sewell WA, Leighton C (March 2000). "Drug-induced aseptic meningitis: diagnosis and management".

IL6, ALB, NR4A3, CHN1, CSF2, LAMC2, CNOT7, CHAF1A, CNOT8, CHAF1B, MOG, TPI1, MRC1, APEX1, CXCL8, ACE, LRG1
Oculodentodigital Dysplasia Wikipedia

Genet. 57 (3): 458–61. doi : 10.1002/ajmg.1320570320 . PMID 7677152 . ^ Paznekas WA, Boyadjiev SA, Shapiro RE, et al. (2003).

GJA1, PTCH1, PTCH2, SUFU, ADRA1D, BMP2, CYP1B1, EYA4, PLIN1, PLXNA2, MMRN1, TWIST2
- Oculodentodigital Dysplasia, Autosomal Recessive OMIM
  
  A number sign (#) is used with this entry because of evidence that autosomal recessive oculodentodigital dysplasia is caused by homozygous mutation in the GJA1 gene (121014) on chromosome 6q22. Oculodentodigital dysplasia is usually inherited as an autosomal dominant disorder (164200), which is also caused by mutation in the GJA1 gene. Clinical Features Traboulsi et al. (1986) proposed the existence of a recessive form of oculodentoosseous dysplasia with more severe ocular affection than in the dominant form. They described a single case in a girl with unaffected first-cousin parents. The patient showed long, narrow nose with hypoplastic nasal alae, telecanthus, prominent epicanthal folds, microphthalmia, microcornea, malformed teeth with abnormal enamel, syndactyly of fingers 4 and 5 with clinodactyly of the distal phalanx of the fifth finger in each hand, and soft tissue syndactyly of toes 2, 3, and 4.
- Basal Cell Nevus Syndrome OMIM
  
  A number sign (#) is used with this entry because basal cell nevus syndrome (BCNS) can be caused by mutations in the PTCH1 gene (601309) on chromosome 9q22, the PTCH2 gene (603673) on 1p32, or the SUFU gene (607035) on 10q24-q25. Somatic mutations in the PTCH2 gene have been identified in basal cell carcinoma (605462) and in medulloblastoma (155255), both of which are features of the nevoid basal cell carcinoma syndrome. Clinical Features Gorlin and Goltz (1960) described a familial syndrome comprising multiple nevoid basal-cell epitheliomas, jaw cysts, and bifid rib. Inheritance was autosomal dominant. Herzberg and Wiskemann (1963) described what they termed the 'fifth phakomatosis,' basal cell nevus syndrome with medulloblastoma. They reported a family in which both father and son had basal cell nevi, with the son also having medulloblastoma and congenital thoracic scoliosis.
- Oculodentodigital Dysplasia GARD
  
  Oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes (oculo-), teeth (dento-), and fingers (digital). Symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. The condition is caused by a mutation in GJA1 and is most typically inherited in an autosomal dominant manner. Oculodentodigital dysplasia can be diagnosed by a clinical examination and confirmed with genetic testing. Management is based on treating the specific symptoms that each affected person exhibits.
- Oculodentodigital Dysplasia MedlinePlus
  
  Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly ) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis ), brittle nails, an unusual curvature of the fingers (camptodactyly ), syndactyly of the toes , small head size (microcephaly ), and an opening in the roof of the mouth (cleft palate ).
- Oculodentodigital Dysplasia OMIM
  
  A number sign (#) is used with this entry because autosomal dominant oculodentodigital dysplasia (ODDD) is caused by heterozygous mutation in the connexin-43 gene (GJA1; 121014) on chromosome 6q22. Description Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979).
- Oculodentodigital Dysplasia Orphanet
  
  Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. Epidemiology To date, approximately 250 cases have been described worldwide (the majority of whom were white individuals). Clinical description The disease is characterized by wide intra- and interfamilial phenotypic variability. The typical craniofacial anomalies include a thin nose with hypoplastic alae nasi, small anteverted nares and a prominent columella, mandibular overgrowth, cleft palate, and microcephaly. Skeletal manifestations consist of syndactyly (involving the 4th and 5th fingers and/or 2nd to 4th toes), camptodactyly, and clinodactyly due to hypoplasia or aplasia of the middle phalanges.
Organic Acidemia Wikipedia

"The Organic Acidemias: An Overview". Gene Reviews (R) Seattle (WA): University of Washington, Seattle; 1993-2015.
Bethlem Myopathy Wikipedia

.), "Collagen Type VI-Related Disorders" , GeneReviews® , Seattle (WA): University of Washington, Seattle, PMID 20301676 , retrieved 2020-10-19 External links [ edit ] Classification D ICD - 10 : G71.2 OMIM : 158810 MeSH : C535436 DiseasesDB : 32019 External resources Orphanet : 610 Image at wustl.edu v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins

COL6A1, COL6A3, COL6A2, COL12A1, ANO5, DMD, LMNA, CAPN3, VWF, FKRP, ADIPOQ, LAMB1, SGCG, LEP, HSPG2, DAG1, COL6A5
- Bethlem Myopathy GARD
  
  Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue . The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures). It most often affects the fingers, wrists, elbows, and ankles. Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in early childhood (with delayed motor skills, muscle weakness, and contractures), or in adulthood (with weakness, Achilles tendon, or finger contractures). Due to the disease's progression, most people with Bethlem myopathy over age 50 require mobility aids (such as a cane, crutches, or wheelchair) for outdoor mobility. Rarely, severe muscle weakness may lead to respiratory difficulties in later life.
- Bethlem Myopathy 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bethlem myopathy-1 (BTHLM1) is caused by heterozygous mutation in the COL6A1 gene (120220), the COL6A2 gene (120240), or the COL6A3 gene (120250). See also Ullrich congenital muscular dystrophy-1 (UCMD1; 254090), an allelic disorder that shows autosomal recessive inheritance and a more severe phenotype. Genetic Heterogeneity of Bethlem Myopathy BTHLM2 (616471) is cased by mutation in the COL12A1 gene (120320) on chromosome 6q. Nomenclature At the 229th ENMC international workshop, Straub et al. (2018) classified autosomal dominant Bethlem myopathy caused by mutation in one of the collagen VI genes as a form of limb-girdle muscular dystrophy (LGMDD5). Clinical Features Bethlem and van Wijngaarden (1976) described 3 Dutch families in which 28 patients suffered from benign myopathy with autosomal dominant inheritance.
- Collagen Vi-Related Myopathy MedlinePlus
  
  Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe. People with Bethlem myopathy usually have loose joints (joint laxity) and weak muscle tone (hypotonia) in infancy, but they develop contractures during childhood, typically in their fingers, wrists, elbows, and ankles. Muscle weakness can begin at any age but often appears in childhood to early adulthood.
- Bethlem Myopathy 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bethlem myopathy-2 (BTHLM2), also known as myopathic-type Ehlers-Danlos syndrome, is caused by heterozygous mutation in the COL12A1 gene (120320) on chromosome 6q. For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1 (158810). Clinical Features Zou et al. (2014) reported a boy with features consistent with Bethlem myopathy. Hypotonia, proximal joint contractures, and distal myopathy were noted during his first year of life. Motor development was delayed, and he started to walk shortly before his second birthday.
- Bethlem Myopathy Orphanet
  
  Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy. Epidemiology To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. Clinical description The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures which are sometimes suggestive of the diagnosis. Etiology Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes.
- Collagen Vi Related Muscular Dystrophy GARD
  
  Collagen type VI-related disorders are caused by alterations (mutations) of collagen genes ( COL6A1 , COL6A2 , or COL6A3 genes) and include diseases that are mild like Bethlem myopathy or more severe like the Ullrich congenital muscular dystrophy (CMD). Diagnosis depends on typical clinical features, muscle biopsy (for suspected Ullrich CMD) or skin biopsy (for suspected Bethlem myopathy) and genetic testing that shows mutations in the collagen VI genes. The treatment depends on the signs and symptoms that are present and may include physiotherapy regarding stretching exercises, splinting, and mobility aids and orthopedic surgeries.
Fibrolamellar Hepatocellular Carcinoma Wikipedia

. ^ Dinh TA, Vitucci EC, Wauthier E, Graham RP, Pitman WA, Oikawa T, Chen M, Silva G, Greene KG, Torbenson MS, Reid LM, Sethupathy P (2017) Comprehensive analysis of The Cancer Genome Atlas reveals a unique gene and non-coding RNA signature of fibrolamellar carcinoma.

PRKACA, DNAJB1, EGFR, NTS, TP53, DNAJA2, SDC1, HNF1A, TPT1, PAX8, NR0B2, DNAJB6, YAP1, PRKCA, IGF2BP1, RASSF1, CD274, CLPTM1L, GLIS2, DNAJC14, LINC00473, GLIS1, GLIS3, BRD2, APC, PRKAR1A, FGFR1, ARAF, CCND1, CBFA2T3, CD68, CDH1, CTNNB1, CYP19A1, ERBB2, FGFR2, APRT, HSPA4, KRAS, KRT19, MB, MDM4, MFAP1, NFYA, PDCD1, DNAJB1P1
- Fibrolamellar Carcinoma GARD
  
  Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise ) and blamed on other, more common conditions. The exact underlying cause of FLC is poorly understood. Unlike other forms of liver cancer, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. FLC is typically treated with surgical resection .
- Fibrolamellar Hepatocellular Carcinoma Orphanet
  
  A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.
Juvenile Polyposis Syndrome Wikipedia

., eds. (1993). GeneReviews [Internet] . Seattle WA: University of Washington, Seattle.

BMPR1A, SMAD4, ENG, PTEN, CRP, ACVRL1, STK11, PTGS2, IL1B, TLR2, SLPI, MBL2, IL6, MUTYH, ELAVL1, TLR4, BMPR2, SAG, BMP2, BCS1L, TGFA, APC, TNF, HPT, TP53, SMUG1, GREM1, MBL3P, CRELD2, CDC73, CASP1, PTCH1, PMS2, PIK3CG, PIK3CD, PIK3CB, PIK3CA, MYH11, ADA, MUC5AC, CDKN1B, SMAD5, CDX2, PDX1, CTNNB1, DCC, HTC2, HHT3
- Juvenile Polyposis Syndrome GeneReviews
  
  Summary Clinical characteristics. Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur.
- 10q22.3q23.3 Microdeletion Syndrome Orphanet
  
  10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
- Juvenile Polyposis Syndrome GARD
  
  Juvenile polyposis syndrome (JPS) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (GI) tract . A hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. In JPS, these polyps can occur in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp and not the age at which the polyps develop. Most people with JPS have some polyps by the age of age 20. The number of polyps in affected people vary.
- Juvenile Polyposis Syndrome Orphanet
  
  A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. Epidemiology Annual incidence is estimated at between 1/100,000 and 1/15,000. Clinical description Polyps may develop at any age from infancy through to adulthood, with most affected individuals presenting polyps by adolescence/early adulthood. A diagnosis of JIP is made on the basis of one or several of the following findings: the presence of more than five juvenile polyps in the colon and/or rectum; the presence of juvenile polyposis throughout the digestive tract, including the stomach; the presence of any number of juvenile polyps in association with a family history of JIP. Several types of JIP have been described, including three forms that differ on the basis of the location of the polyps (generalized juvenile polyposis of the upper and lower GI tract, juvenile polyposis coli and juvenile polyposis of the stomach) and a more severe infantile form, juvenile polyposis of infancy (see this term).
- Chromosome 10q22.3-Q23.2 Deletion Syndrome OMIM
  
  A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr10: 81.6-88.9 Mb, NCBI36). Description The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (601299) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (601728) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011). Clinical Features Alliman et al. (2010) reported 4 unrelated patients with a recurrent interstitial deletion of chromosome 10q22.3-q23.2, including the BMPR1A gene but not the PTEN gene.
- Juvenile Polyposis Syndrome OMIM
  
  A number sign (#) is used with this entry because juvenile polyposis syndrome (JPS) is caused by heterozygous mutation in the SMAD4 gene (600993) on chromosome 18q21 or in the gene encoding bone morphogenetic protein receptor-1A (BMPR1A; 601299) on chromosome 10q21. Description Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden syndrome-1 (158350). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS).
- Juvenile Polyposis Syndrome MedlinePlus
  
  Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia ), abdominal pain, and diarrhea.
- Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome OMIM
  
  A number sign (#) is used with this entry because juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) is caused by heterozygous mutation in the SMAD4 gene (600993) on chromosome 18q21. Description The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS; 174900) and hereditary hemorrhagic telangiectasia (HHT; 187300) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010). Clinical Features Cox et al. (1980) described a 28-year-old woman and her 10-year-old daughter with this combination. Both showed severe digital clubbing. Polyps were discovered in the colon of the daughter at age 5 years.
Hiv/aids In Malawi Wikipedia

Prevalence of HIV/AIDS in adult (ages 15–49) populations (1999–2002) As of 2012 [update] , approximately 1,100,000 people in Malawi are HIV-positive , which represents 10.8% of the country's population. [1] Because the Malawian government was initially slow to respond to the epidemic under the leadership of Hastings Banda (1966–1994), the prevalence of HIV/AIDS increased drastically between 1985, when the disease was first identified in Malawi, and 1993, when HIV prevalence rates were estimated to be as high as 30% among pregnant women. [1] The Malawian food crisis in 2002 resulted, at least in part, from a loss of agricultural productivity due to the prevalence of HIV/AIDS. [1] Various degrees of government involvement under the leadership of Bakili Muluzi (1994–2004) and Bingu wa Mutharika (2004–2012) resulted in a gradual decline in HIV prevalence, and, in 2003, many people living in Malawi gained access to antiretroviral therapy . [1] Condoms have become more widely available to the public through non-governmental organizations, and more Malawians are taking advantage of HIV testing services . [1] Due to several successful television and radio campaigns by the Malawian government and non-governmental organizations in Malawi, levels of awareness regarding HIV/AIDS are high among the general population. [2] However, many men have adopted fatalistic attitudes in response to the epidemic, convincing themselves that death from AIDS is inevitable; on the other hand, some have implemented preventive techniques such as partner selection to try to reduce their risk of infection. [3] Although many women have developed strategies to protect themselves from HIV, women are more likely to be HIV-positive than men in Malawi. [1] The epidemic has affected sexual relationships between partners, who must cooperate to protect themselves from the disease. [4] In addition, many teachers exclude HIV/AIDS from their curricula because they are uncomfortable discussing the topic or because they do not feel knowledgeable about the issue, and, therefore, many children are not exposed to information about HIV/AIDS at school. [5] Finally, the epidemic has produced significant numbers of orphans in Malawi, leaving children vulnerable to abuse and exploitation . [6] Contents 1 History 2 Awareness and risk perception 3 Education 4 Affected groups 4.1 Men 4.2 Women 4.3 Children 5 Marriage and relationships 6 Economic impact 7 Impact on health services 8 Interventions 8.1 Antiretroviral therapy 8.2 Condom distribution 8.3 Voluntary counseling and testing 9 See also 10 References History [ edit ] Bingu wa Mutharika, third President of Malawi (2004–2012) The first case of HIV/AIDS in Malawi was reported at Lilongwe's Kamuzu Central Hospital in 1985. [7] President Hastings Banda , who was in power at the time, responded with several small-scale prevention initiatives and created the National AIDS Control Programme, a division of the Ministry of Health , to manage the growing epidemic. [1] Banda believed that issues relating to sex, including HIV transmission, should not be addressed in the public sphere; during this time, it was illegal for Malawian citizens to discuss the epidemic openly. [8] In 1989, Banda introduced a five-year World Bank Medium Term Plan to combat the epidemic, but HIV prevalence had already increased drastically at this point. [1] In 1994, when Bakili Muluzi became president, he addressed the nation's need for a coordinated response to the HIV/AIDS epidemic. [1] In 2000, Muluzi introduced another five-year policy known as the National Strategic Framework, but, like Banda's five-year World Bank Medium Term Plan, this plan was largely ineffective. [1] In 2001, in response to problems within the National AIDS Control Programme established by Banda, Muluzi created the National AIDS Commission. [1] Unlike Banda, who prevented the public from accessing information about the epidemic, Muluzi ensured that information about HIV/AIDS was available on the radio and television, in newspapers, and on billboards. [8] However, despite Muluzi's efforts, HIV prevalence was already significantly influencing national agricultural productivity during this period, and Malawi experienced an AIDS-related nationwide famine in 2002. [1] Malawians gained access to antiretroviral drugs in 2003, and, with a donation from the Global Fund to Fight AIDS, Tuberculosis, and Malaria and the election of new President Bingu wa Mutharika in 2004, government interventions increased substantially. [1] However, soon after his election, Mutharika experienced tensions with Muluzi after implementing an anti-corruption program, which distracted the government from addressing the nation's food and HIV/AIDS-related crises. [9] Despite these obstacles, Mutharika successfully developed a National AIDS Policy and appointed a Principal Secretary for HIV/AIDS during his presidency. [1] Awareness and risk perception [ edit ] Partners in Health worker with disease treatment literature in Malawi Despite Malawi's limited health and educational infrastructure, knowledge regarding HIV/AIDS is high among many people living in both urban and rural Malawi. [2] According to a 2004 study by Barden-O'Fallon et al. involving 100 households, women in Malawi are most likely to learn about HIV/AIDS through radio and television, health workers at local clinics, and female members of their social networks. [2] Men are also likely to access information about HIV/AIDS through radio and television; however, unlike women, they are not likely to gain information about HIV/AIDS from their male friends. [2] When 57 Malawian men were interviewed in 2003, 100% of them said they had heard about the HIV/AIDS epidemic on the radio, and 84.2% of them said they had learned about HIV/AIDS during their visits to local health facilities; this supports the fact that many people in Malawi have access to information about the epidemic, both through the radio and other sources. [8] Personal traits such as age, gender, location, and education correlate, either positively or negatively, with HIV/AIDS awareness levels.
Arterial Tortuosity Syndrome Wikipedia

.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.

SLC2A10, MUS81, TGFBR1, TGFBR2, SMAD3, TGFB2, NT5E, COL4A4, SLC2A11, COL4A3, COL4A5, NXT1, ZNF197, MRPL28, SUB1, LAMTOR1, EFEMP2, ATRAID, MAFK, TPPP2, H3P12, EEF1E1, APOE, UBE2I, TNXB, CDKN2B, SLC2A1, PON1, P4HB, MYH9, MTHFR, FN1, ELN, COL4A1, CFL1, CDKN2C, H3P9
- Arterial Tortuosity Syndrome GeneReviews
  
  Summary Clinical characteristics. Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs). Diagnosis/testing. The diagnosis of ATS is established in a proband with generalized arterial tortuosity and biallelic (homozygous or compound heterozygous) pathogenic variants in SLC2A10 identified on molecular genetic testing. Management. Treatment of manifestations: Individuals with ATS benefit from a coordinated approach of multidisciplinary specialists in a medical center familiar with ATS.
- Arterial Tortuosity Syndrome MedlinePlus
  
  Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. As its name suggests, arterial tortuosity syndrome is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries ). Tortuosity arises from abnormal elongation of the arteries; since the end points of the arteries are fixed, the extra length twists and curves. Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia).
- Arterial Tortuosity Syndrome GARD
  
  Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). It is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). Other features include: Joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures) Soft and stretchable skin Long, slender fingers and toes (arachnodactyly) Curvature of the spine (scoliosis) Sunken chest (pectus excavatum) or protruding chest (pectus carinatum) Protrusion of organs through gaps in muscles (hernias) Elongation of the intestines or pouches called diverticula in the intestinal walls People with arterial tortuosity syndrome often look older than their age and have distinctive facial features. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus).
- Arterial Tortuosity Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that arterial tortuosity syndrome (ATORS) is caused by homozygous or compound heterozygous mutation in the gene encoding glucose transporter GLUT10 (SLC2A10; 606145) on chromosome 20q13. Description Arterial tortuosity syndrome is a rare connective tissue disorder characterized by generalized tortuosity, elongation, stenosis, and aneurysms of the major arteries. Skin and joint abnormalities, including hyperextensibility or hyperlaxity of the skin, joint laxity or contractures, and inguinal hernias, may also be observed. Other abnormalities include micrognathia, elongated face, high palate, beaked nose, sliding hernia, and ventricular hypertrophy (summary by Coucke et al., 2006). Clinical Features From Ankara, Turkey, Ertugrel (1967) described a 10-year-old girl with generalized tortuosity and elongation of all major arteries including the aorta.
- Arterial Tortuosity Syndrome Orphanet
  
  A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. Epidemiology Approximately 100 patients have been described in the literature so far. The male to female ratio is 1:1. Clinical description The clinical manifestations are variable, depending on the arteries affected. Onset usually occurs in infancy or early childhood. The cardiovascular anomalies may lead to right ventricular hypertension, acute respiratory symptoms, ventricular hypertrophy and cardiac failure. Patients are prone to aneurysm formation, dissection and ischemic events.
Acid Lipase Disease Wikipedia

.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.

LIPA, CHIT1, GPT, NHS, CCL18, RAB7A, SOAT2, CUL9, RAB7B
- Lysosomal Acid Lipase Deficiency GeneReviews
  
  Summary Clinical characteristics. The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption.
- Lysosomal Acid Lipase Deficiency GARD
  
  Lysosomal acid lipase deficiency is a metabolic lipid storage disease. Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum): Wolman disease : The early-onset and most severe form of the disease where lipids accumulate throughout the body, mostly in the liver, within the first weeks of life. Symptoms include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a yellowish color of the skin and the whites of the eyes (jaundice), vomiting, diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food (malabsorption), as well as calcium deposits in adrenal glands, anemia, liver disease ( cirrhosis ), and developmental delay. Infants with this form of lysosomal acid lipase deficiency develop failure in multiple organs, and severe malnutrition. Cholesteryl ester storage disease : Less severe and starting later in life.
- Lysosomal Acid Lipase Deficiency Orphanet
  
  A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis. Epidemiology Based on allele frequency, worldwide birth prevalence is estimated at 1/177,000; however, birth prevalence is lower in populations with Finnish, Ashkenazi Jewish, and South or East Asian ancestry. Clinical description Presentation is along a clinical continuum with variable rates of progression and severity. The early-onset, rapidly progressive form, Wolman disease, presents in the neonatal or infantile period with non-specific symptoms of massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting, resulting in malabsorption, and cachexia. Adrenal calcifications occur in approximately half of infants. The later onset form, cholesteryl ester storage disease (CESD), presents between childhood and adulthood with a more variable clinical course that ranges from insidious to symptomatic.
Baller–gerold Syndrome Wikipedia

(eds.). Baller-Gerold Syndrome . Seattle (WA): University of Washington, Seattle.

RECQL4, TWIST1, TNF
- Baller-Gerold Syndrome GeneReviews
  
  Summary Clinical characteristics. Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma.
- Baller-Gerold Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that Baller-Gerold syndrome (BGS) is caused by homozygous or compound heterozygous mutation in the RECQL4 gene (603780) on chromosome 8p24. Description The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (Galea and Tolmie, 1990). Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; 101400). Clinical Features Baller (1950) described a female with oxycephaly and absent radius. The parents were third cousins. Gerold (1959) described a brother and sister, aged 16 years and 2 days, with tower skull, radial aplasia, and slight ulnar hypoplasia.
- Baller-Gerold Syndrome Orphanet
  
  Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). Epidemiology Around 30 cases have been reported but the prevalence of the syndrome is unknown. Clinical description Craniosynostosis and radial ray anomalies present at birth and are associated with facial dysmorphism (brachycephaly, ocular exophthalmia, frontal bossing, nasal hypoplasia, small mouth, ogival palate). An inconstant poikiloderma can appear during the first months of life. Delayed growth is nearly always present, usually around -4SD. Patellar aplasia or hypoplasia can be observed during childhood.
- Baller-Gerold Syndrome GARD
  
  Baller-Gerold syndrome (BGS) is a rare condition primarily affecting the way the bones of the skull and limbs grow. Features include premature fusion of specific skull bones (craniosynostosis) and underdevelopment of the bones in the arms and hands (radial ray anomalies). In addition, they may have a characteristic skin condition that includes patches of discoloration and skin breakdown ( poikiloderma ). People with BGS may have growth delay and be at increased risk for certain types of cancer. Intelligence is usually normal. Most cases of BGS are caused by alterations in the RECQL4 gene.
- Baller-Gerold Syndrome MedlinePlus
  
  Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead , and bulging eyes with shallow eye sockets (ocular proptosis ). Other distinctive facial features can include widely spaced eyes (hypertelorism ), a small mouth , and a saddle-shaped or underdeveloped nose. Bone abnormalities in the hands include missing fingers (oligodactyly ) and malformed or absent thumbs .
Dysplasia Wikipedia

Fibrous Dysplasia/McCune-Albright Syndrome . Seattle (WA): University of Washington, Seattle.
Glucagonoma Wikipedia

. ^ a b c d van Beek AP, de Haas ER, van Vloten WA, Lips CJ, Roijers JF, Canninga-van Dijk MR (November 2004).

MEN1, GCGR, CDKN1A, CDKN2B, CDKN2C, CDKN1B, GCG, SST, FFAR1, SSTR5, SSTR2, SMS, GPR119, EHMT1, PARP14, FOXA2, IL1B, IAPP, HMGN2, GRN, GLP1R, DAXX, ZGLP1
- Glucagonoma Orphanet
  
  Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. Epidemiology The estimated incidence in the general population is 1/20, 000,000. Clinical description Glucagonoma usually presents in the fifth decade of life with the initial symptom often being necrolytic migratory erythema. This skin condition is characterized by a red, blistering and migratory rash, associated with an intense pruritus and that is mainly localized to the lower extremities and the groin. Diabetes is present in most cases and requires insulin therapy. Weight loss, anemia, mucosal abnormalities (glossitis, cheilitis, stomatitis), gastrointestinal disturbances, thromboembolism and neuropsychiatric symptoms (depression) are other frequent manifestations.
Zettai Ryōiki Wikipedia

. ^ a b "絶対領域(ゼッタイリョウイキ)とは - コトバンク" [Zettai ryōiki (zettairyouiki) to wa - kotobanku]. Kotobank.jp (in Japanese).
Orofaciodigital Syndrome 1 Wikipedia

.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews . Seattle (WA): University of Washington, Seattle.

OFD1, TMEM107, SCLT1, C2CD3, DDX59, FAM149B1, TBC1D20, RAB18, TCTN1, HFM1, FOPNL, GLI3, TMEM231, GYS2, IFT57, SDCCAG8, KIAA0753, PCBD1, CPLANE1
- Orofaciodigital Syndromes GARD
  
  Orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. When changes happen to many different parts of the body, this is called a syndrome. The literature reports up to thirteen types of orofaciodigital syndrome, but research is necessary to confirm and clarify all of these types. For most of the types the exact cause of the condition is unknown. Click here to read this and more by visiting an information page on this topic developed by the National Human Genome Research Institute. See below for a list of orofaciodigital syndromes. These types are defined by certain symptoms or characteristics in addition to the those affecting the oral cavity, facial structures, and digits.
- Oral-Facial-Digital Syndrome Wikipedia
  
  Oral-facial-digital syndrome Other names Orofaciodigital syndrome Specialty Rheumatology , medical genetics Oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the mouth , facial features , and digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I ( Papillon-League-Psaume syndrome ). [1] Contents 1 Type 2 References 3 External links Type [ edit ] The different types are:s [2] Type I, Papillon-League-Psaume syndrome Type II, Mohr syndrome [3] Type III, Sugarman syndrome Type IV, Baraitser-Burn syndrome [4] Type V, Thurston syndrome [5] Type VI, Varadi-Papp syndrome [6] Type VII, Whelan syndrome [7] Type VIII, Oral-facial-digital syndrome, Edwards type [8] (not to be confused with Edwards syndrome ) Type IX, OFD syndrome with retinal abnormalities [9] Type X, OFD with fibular aplasia [10] Type XI, Gabrielli syndrome [11] References [ edit ] ^ "Oral-facial-digital syndrome - Genetics Home Reference" . ^ "National Organization for Rare Disorders" . Archived from the original on 2014-08-16 . Retrieved 2015-03-02 . ^ Online Mendelian Inheritance in Man (OMIM): MOHR SYNDROME - 252100 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME IV; OFD4 - 258860 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME V; OFD5 - 174300 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VI; OFD6 - 277170 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VII; OFD7 - 608518 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VIII; OFD8 - 300484 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME IX; OFD9 - 258865 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME X; OFD10 - 165590 ^ Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME XI; OFD11 - 612913 External links [ edit ] Classification D ICD - 10 : Q87.0 MeSH : D009958 External resources Orphanet : 140997 This genetic disorder article is a stub . You can help Wikipedia by expanding it . v t e
Congenital Contractural Arachnodactyly Wikipedia

GeneReviews®: Congenital Contractural Arachnodactyly . Seattle (WA): University of Washington, Seattle.

FBN2, TNNI2, ECEL1, FBN1, AKT1, EGFR, PIK3CA, IL6, MIR21, PIK3CG, PIK3CD, PIK3CB, ERBB2, BCL2, CD274, PTGS2, TNF, IDH1, HDAC3, STAT3, TP53, EZH2, CASP3, CCK, BAP1, ABCB1, YAP1, MCL1, ELAVL2, KRAS, IDH2, CTNNB1, CEACAM5, VEGFA, VIM, TGFB1, FGFR2, PTK2B, GDE1, NFE2L2, VDR, SMAD4, TNFSF10, FBXW7, KRT19, IL10, PPFIBP2, CEACAM7, FOXM1, CEACAM3, MTCO2P12, PSG2, S100A9, GATA6, POSTN, NEAT1, PVT1, PSMD10, COX2, ARID1A, MAPK3, PRKAR1A, GABPA, MET, RECK, IFI27, MMP9, HMOX1, IFNG, HSP90AA1, TP73-AS1, LDHA, LCN2, SLC7A5, RIPK1, CXCR4, ABCC3, AFAP1-AS1, SNAI1, MTHFR, CBX5, SOX4, S100A8, ROS1, STK11, CD163, MAP2K7, MAPK1, PPP3CA, PPIA, POMC, PLK1, DICER1, TFF2, MUC1, TGFBR2, SOCS3, TLR4, SMUG1, SNHG1, PDGFRB, TP73, PDGFA, SERPINB2, PROM1, NR1H4, NOTCH1, OPCML, SPP1, MIR34A, NQO1, CCAT1, MIR485, CD44, MIR494, MIR200A, MIR140, MIR192, DPYD, CDK4, MIR186, BAX, MIR122, EPHB2, CASP9, MIR150, CCND1, CDH1, BSG, FGFR1, AKT2, SOX2-OT, NNT-AS1, MIR210, GGTLC5P, POU5F1P4, UCA1, HTATIP2, ZNF423, TBC1D9, XRCC6P5, MIR424, MIR370, SIRT3, AGR2, ZNRD2, KAT5, SEMA4D, TACC3, GPNMB, DCTN6, CCL27, SIRT2, MIR378A, FILIP1L, CILK1, MIR490, ZHX1, MORC2, ANXA10, POTEM, POU5F1P3, ACOT7, WDHD1, PSIP1, METAP2, FLVCR1-DT, KCNQ1OT1, MALT1, KLRK1, RASSF1, ACTBL2, PAK4, MSLN, SYCE1L, LOXL1-AS1, LMCD1-AS1, TMED7-TICAM2, F2RL3, MCM3AP, SPHK1, APLN, MICA, NRP1, CES2, TNFRSF10C, KLRC4-KLRK1, SPRY4-IT1, PSC, OPCML-IT1, EED, PGR-AS1, PANDAR, CUL4B, CCAT2, CDR1-AS, H3P23, MIR877, MIR876, GGTLC4P, DCAF1, TSPAN1, SRA1, POTEKP, MIR612, FGF19, KLHL21, SETDB1, MAML1, MIR622, SETD1A, ABCG1, MTA1, TP53I3, PTGES, FHL5, MIR637, GGTLC3, S1PR2, GGT2, PTTG1, TMSB10, HULC, MIR551B, MIR25, MIR99A, MIR106B, ARHGAP24, LPAL2, FENDRR, LINC01061, MIRLET7C, MIR106A, TET1, PDGFD, ASRGL1, ZNF703, NEIL1, HSDL2, MIR10A, ZSCAN18, HIF3A, SOX17, PDF, AFAP1, SELENOK, KMT2C, HAMP, KLHL1, C3P1, RPAIN, MIR30E, GATA5, FFAR4, RAB7B, TRIM59, PWAR4, DDX53, GPBAR1, PDIK1L, IL34, PRIMA1, LINC00261, OSCP1, DPY30, LRG1, OSBPL8, OSBPL7, DNER, WDR20, IL33, MIR22HG, TICAM2, LINC-PINT, ACCS, NR0B2, DANCR, MIR126, WWTR1, ERO1A, MIR195, MCTS1, MCAT, PDLIM3, MIR200B, PDCD4, SALL3, ATRNL1, MIR200C, DNAJB5, MIR130A, OSBP2, PLA2G15, MIR203A, SLC7A11, MIR221, CA14, MACC1, SUZ12, MIR29A, MIR30D, IL22, TMED7, PI15, PRLH, MIR132, ACKR3, ACSS2, MEG3, QRSL1, CCDC25, NAT10, PBRM1, MIR142, MIR144, AKIRIN2, TUG1, RNF43, CDHR2, MIR15A, TREM1, SRRT, MIR191, SIRT7, ZBTB7A, TNNI3K, AICDA, NAT1, HMGA2, GLS, GGT1, GATA1, FUT1, FKBP4, FGFR4, FGF10, FGF7, FCGR3B, FCGR3A, FBP1, FABP4, F2RL1, F2R, ETV4, ESD, EREG, ERBB4, SLC29A1, ENO1, EMP1, ELK1, EIF4EBP1, EFNA1, ECM1, EBF1, GPC3, GNAS, DNMT1, GNB3, IL13, CXCL8, IL1B, IGFBP7, IGF2, IGF1, ICAM1, DNAJB1, HES1, AGFG1, HOXD9, HNRNPK, ONECUT1, HMGA1, HK2, HIF1A, HHEX, HGF, HGD, HDAC2, GTF2H4, GSK3B, GRN, GPT, GP2, E2F2, CYP19A1, PDX1, BRAF, ATHS, ASS1, ASPH, APRT, BIRC5, XIAP, APEX1, ANXA5, ANXA1, ANG, ALPP, ALOX15, ALOX5, ALDH1A3, ALB, AGXT, APLNR, AGTR2, PARP1, ACTN4, ACTG2, ACTG1, ACTB, ABCA1, SERPINA3, BCL9, CASP8, CYP1A2, CAT, CTSL, CTSB, CSNK2B, CSF1R, CRYBB2, COL11A2, COL6A3, COL1A2, COL1A1, PLK3, ABCC2, CMA1, CLTC, CHI3L1, CDX2, CDKN2A, CDKN1A, CDK7, CDK1, CD47, CD14, CCT, CCND2, CCNB1, RUNX3, IL17A, ITGB4, MFAP5, STAT1, SOX9, SOX2, SOD2, SLPI, SLC22A3, SLC22A1, SLC16A1, SLC15A1, SLC4A1, SLC3A2, SKP2, SFRP1, CXCL12, SCP2, S100A6, S100A2, ROBO2, RARG, RARB, RAC1, PVR, PTPN11, PTPN6, PTEN, PSMD9, NAT2, TAC1, PRKAR2B, ADAM17, NR4A3, PLA2G7, RAB7A, PRDM2, XRCC1, VCL, UNG, UCHL1, TYMS, TXN, TWIST1, TPT1, TPM1, TPD52, TIMP3, TGFB2, TFRC, TFF3, TFF1, TF, TERC, TEK, TCF21, ZEB1, TACR1, MAPK8, PPARG, ITPR3, GADD45B, MUTYH, MUC5AC, MUC2, NUDT1, MST1R, MRC1, KMT2A, MGMT, MFAP1, MEN1, MARCKS, EPCAM, TACSTD2, LUM, LTA, LOXL2, LOX, LGALS3, LGALS1, LCK, LASP1, RPSA, LAMC2, LAMP1, KDR, MYC, NF2, POU5F1, NFKB2, POU2F1, POLD1, SEPTIN4, PLG, PLAU, PLA2G4A, PKM, PKD2, PEG3, PECAM1, PDR, PDK3, PDGFRA, PDCD1, PCNA, PAWR, PAK3, SERPINE1, PAFAH1B1, ORM2, OGG1, NTS, YBX1, NOTCH3, NOS3, H3P42
- Congenital Contractural Arachnodactyly GeneReviews
  
  Summary Clinical characteristics. Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families. Diagnosis/testing.
- Congenital Contractural Arachnodactyly MedlinePlus
  
  Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis ), permanently bent fingers and toes (camptodactyly ), ears that look "crumpled," and a protruding chest (pectus carinatum ). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse).
- Contractural Arachnodactyly, Congenital OMIM
  
  A number sign (#) is used with this entry because of evidence that congenital contractural arachnodactyly (CCA) is caused by heterozygous mutation in the gene encoding fibrillin-2 (FBN2; 612570) on chromosome 5q23. For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). Description Congenital contractural arachnodactyly is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). It shares overlapping features with Marfan syndrome (154700), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; 134797). Clinical Features Beals and Hecht (1971) described father and 2 sons affected in 1 kindred and father, daughter and son (by different mothers) affected in a second kindred.
- Congenital Contractural Arachnodactyly GARD
  
  Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes ( arachnodactyly ); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears; and curvature of the spine ( kyphoscoliosis ). Enlargement (dilation) of the aorta and other features might also be present in some affected people. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern . CCA shares similiar signs and symptoms to Marfan syndrome ; however, Marfan syndrome is not caused by mutations in the FBN2 gene. Treatment includes physical therapy or surgery for joint contractures, bracing and/or surgery for kyphoscoliosis, and standard management of aortic root dilation.
- Congenital Contractural Arachnodactyly Orphanet
  
  Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Epidemiology The incidence of CCA is unknown and its prevalence is difficult to estimate due to the overlap in phenotype with MFS. Etiology Beals syndrome is caused by a mutation in the FBN2 gene on chromosome 5q23. The number of patients reported has increased following the identification of the FBN2 mutation. Diagnostic methods Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases.
Proximal Renal Tubular Acidosis Wikipedia

ISSN 1046-6673 . PMID 12138150 . ^ Gahl WA, Thoene JG, Schneider JA (2002). "Cystinosis".

SLC4A4, SLC4A1, ALDOB, CYP11B2, FBN1, GATA3, OCRL, PC, UQCC2, RBFOX2, MRGPRF, EHHADH, SLC9A3
- Proximal Renal Tubular Acidosis Orphanet
  
  Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. Epidemiology Prevalence is unknown but isolated hereditary pRTA is very rare. Drug-induced pRTA occurs relatively frequently. Clinical description The onset of hereditary pRTA varies from infancy to adulthood, manifesting initially with very alkaline urine due to bicarbonate wastage. Autosomal recessive pRTA (AR pRTA; see this term) is associated with severe growth retardation leading to short stature, intellectual disability and ocular abnormalities such as band keratopathy, cataracts, and glaucoma. Growth retardation and reduced bone density, due to metabolic acidosis, are seen in autosomal dominant pRTA (AD pRTA; see this term).
- Renal Tubular Acidosis, Proximal OMIM
  
  Proximal RTA is distinct from classic, or distal, RTA (see 179800), which is characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid. Thus, excretion of ammonium ions and titratable acid are reduced, and urinary pH is usually above 6.5 despite overt acidosis. In the proximal, or bicarbonate-wasting, type of RTA, excretion of acid in the distal tubule is normal, and the urine is normally acidic, with a pH down to 5 during acidosis. In this type of RTA, an inability to reabsorb bicarbonate in the proximal tubules causes hyperchloremic acidosis. Type II RTA is a feature of the Fanconi syndrome (see 134600). As an isolated defect, it is a transitory condition in male infants, with growth retardation as the main clinical feature (Nash et al., 1972).
Myotonic Dystrophy Wikipedia

Myotonic Dystrophy Type 2 . Seattle (WA): University of Washington, Seattle.

DMPK, CNBP, NKX2-5, CELF1, MBNL1, CCT3, APOC2, INSR, SIX5, CKM, ERCC1, CLCN1, FXN, RANGAP1, PRKCA, HCRT, PRRT2, DMD, BUB1, PRKCB, POMC, NEK6, DMWD, MAPT, ACTB, CEBPD, MBNL2, SCN4A, TNF, QPCT, KCNN3, TNNI3, IGHD1-7, MSH3, UGT8, OXA1L, PLCB1, PGD, SCN5A, CDC42BPB, ALB, RAN, REM1, TNNT1, GH1, FSD1L, FSD1, BCL3, APOC1, MIR206, BIN1, GSK3B, CLIP2, MAK16, GGTLC1, RIDA, BPIFA2, OPN1MW3, OPN1MW2, SLC35G1, ROCK2, WASL, MTMR1, C9orf72, CTCF, CDC42BPA, DYSF, ST8SIA4, MIR29C, CELF2, RAB6B, FAM107B, ASB2, TNFRSF12A, TP53, RBFOX1, NAT10, IGHD1-14, DESI1, RBMS3, PDLIM3, FGF21, PNO1, ATRNL1, JPH3, MMD, CELF6, SRRM2, GGCT, ASRGL1, SPEN, LDB3, RSPH6A, RAB1B, CCL27, RAP2B, TCF4, CYP2B6, KCNQ1, IL6, IGLC3, GPR4, GHRH, OPN1MW, GC, FRAXE, FEN1, F5, DDX6, DDX5, CYP2A13, MEF2A, CYP2A7, CYP2A6, CDC42, CD59, CCND3, ATP1A3, ATHS, ARF3, APOE, AMPH, AMH, ALPP, LDLR, MEF2C, SYN1, PSPH, STXBP3, SRF, SLPI, SLC1A2, SRSF2, ATXN1, CLIP1, RRAS, ROCK1, REG1A, RAP1B, PTBP1, PSPN, ATXN3, PRNP, PRKCG, PRKAB1, PRKAA2, PRKAA1, PEPD, MYOG, MTM1, MSMB, MSH2, MRC1, MLH1, LOC102724197
- Myotonic Dystrophy GARD
  
  Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing ( myotonia ) and are not able to relax certain muscles after use.