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16p11.2 Deletion Syndrome
Medlineplus
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. ... However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among affected members of the same family. ... Causes People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs ), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. ... Researchers are working to determine how the missing genes contribute to the features of 16p11.2 deletion syndrome. Learn more about the chromosome associated with 16p11.2 deletion syndrome chromosome 16 Inheritance Pattern 16p11.2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy of chromosome 16 in each cell is sufficient to cause the condition.
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Coffin-Lowry Syndrome
Medlineplus
Coffin-Lowry syndrome is a condition that affects many parts of the body. ... Gene mutations result in the production of little or no RPS6KA3 protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome. Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene. ... Learn more about the gene associated with Coffin-Lowry syndrome RPS6KA3 Inheritance Pattern This condition is inherited in an X-linked dominant pattern . ... Between 70 percent and 80 percent of people with Coffin-Lowry syndrome have no history of the condition in their families. ... The remaining 20 percent to 30 percent of affected individuals have other family members with Coffin-Lowry syndrome.
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Tetrasomy 9p
Wikipedia
Presence of four copies of the short arm of chromosome 9 See also: Trisomy 9 Tetrasomy 9p Other names Isochromosome 9p Chromosome 9, the chromosome involved in this condition Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9 (called the p arm), in addition to the usual two. [1] Symptoms of tetrasomy 9p vary widely among affected individuals but typically include varying degrees of delayed growth, abnormal facial features and intellectual disability . [1] Symptoms of the disorder are comparable to those of trisomy 9p . [2] Contents 1 Symptoms 2 Causes 3 Mechanism 3.1 Mosaicism 4 Diagnosis 5 Management 6 Prognosis 6.1 Recurrence risk 7 References 8 External links Symptoms [ edit ] The symptoms and prognosis of tetrasomy 9p are highly variable. [3] The severity of the symptoms is largely determined by the size of the isochromosome, the specific regions of chromosome 9p that are duplicated, as well as the number and type of tissues that are affected in the mosaic form. [4] Most patients exhibit some degree of intellectual disability, abnormal skeletal and muscular development, and abnormal facial structures. [1] Cognitive symptoms range from slight learning disabilities to severe deficits in intellectual functioning. [4] Due to abnormal development of the muscles, individuals often experience limited or delayed mobility. [2] Atypical facial features are characteristic of the syndrome, including widely spaced eyes, a large nose, and unusually positioned ears. [1] [4] Additionally, patients often have extra skin around the neck and widely spaced nipples. [4] A wide range of renal, digestive, cardiac, respiratory, and nervous system abnormalities have been observed. [4] Though rare, a few cases of phenotypically normal individuals with tetrasomy 9p have been documented. [1] [3] Causes [ edit ] Tetrasomy 9p is caused by the presence of two additional copies of the short arm of chromosome 9. ... Mosaicism [ edit ] In most cases, affected individuals carry the tetrasomy in every cell in their bodies. [2] However, some patients have the tetrasomy in some of their tissues but not in others; this is referred to as the mosaic form of the syndrome, and often results in less severe symptoms. [2] Non-mosaic tetrasomy 9p is most often the result of abnormal chromosome separation during the formation of eggs or sperm. ... PMID 25944096 . ^ a b c d e f g h i j k l "Tetrasomy 9p Syndrome". Atlas of Genetic Diagnosis and Counseling . ... External links [ edit ] Classification D ICD - 10 : Q99.8 MeSH : C538027 External resources Orphanet : 3310 v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
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Manitoba Oculotrichoanal Syndrome
Medlineplus
Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism ). ... Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. ... The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. ... Causes Manitoba oculotrichoanal syndrome is caused by mutations in the FREM1 gene.
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Melnick-Needles Syndrome
Medlineplus
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and terminal osseous dysplasia. ... In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters ) or heart defects. Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth. Frequency Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide.
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Auriculo-Condylar Syndrome
Medlineplus
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). ... These features vary, even among affected members of the same family. Frequency Auriculo-condylar syndrome appears to be a rare disorder. ... Researchers are working to determine how mutations in these genes lead to the other developmental abnormalities associated with auriculo-condylar syndrome. In some people with the characteristic features of auriculo-condylar syndrome, a mutation in the GNAI3 or PLCB4 gene has not been found. ... Some people who have one altered copy of the GNAI3 or PLCB4 gene have no features related to auriculo-condylar syndrome. (This situation is known as reduced penetrance.)
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Pallister-Hall Syndrome
Orphanet
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. ... Differential diagnosis Differential diagnoses include oral-facial-digital syndrome type 6, Holzgreve-Wagner-Rehder syndrome, McKusick-Kaufman syndrome, Holt-Oram syndrome, Bardet-Biedl syndrome, Smith-Lemli-Opitz syndrome, as well as craniopharyngioma, Greig cephalopolysyndactyly syndrome Ellis Van Creveld syndrome (see these terms) and congenital hypothalamic hamartoma syndrome. ... Intellectual deficits and behavioral alterations have not been directly correlated with the syndrome.
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Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome
Medlineplus
FBXL4 -related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. ... Children with FBXL4 -related encephalomyopathic mtDNA depletion syndrome have delayed development of mental and motor skills and severely impaired speech development. ... Frequency FBXL4 -related encephalomyopathic mtDNA depletion syndrome is a rare condition; the exact prevalence is unknown. ... Causes As its name suggests, FBXL4 -related encephalomyopathic mtDNA depletion syndrome is caused by mutations in the FBXL4 gene. ... FBXL4 gene mutations that cause FBXL4 -related encephalomyopathic mtDNA depletion syndrome lead to a loss of FBXL4 protein function.
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Weismann-Netter–stuhl Syndrome
Wikipedia
Weismann-Netter–Stuhl syndrome Other names Weismann-Netter syndrome, tibioperoneal diaphyseal toxopachyosteosis Weismann-Netter–Stuhl syndrome is inherited in an autosomal dominant manner. Weismann-Netter–Stuhl syndrome , also known as Weismann-Netter syndrome or tibioperoneal diaphyseal toxopachyosteosis , is a rare disorder characterized by bowing of the lower legs and an abnormal thickening of thinner bone in the leg. [1] The main sign is anterior bowing and posterior cortical thickening of the diaphyses of both the tibiae and fibulae . ... "Weismann-Netter-Stuhl syndrome: report of two cases and treatment" . ... (March 1988). "The Weismann-Netter syndrome". American Journal of Medical Genetics . 29 (3): 573–579. doi : 10.1002/ajmg.1320290315 . ... PMID 19839038 . ^ Beighton, Peter; Beighton, Greta (2012-12-06). The Man Behind the Syndrome . Springer Science & Business Media. p. 231.
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Tempi Syndrome
Wikipedia
Orphan disease TEMPI syndrome Other names Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome TEMPI Syndrome is an orphan disease where the patients share five characteristics from which the acronym is derived: telangiectasias , elevated erythropoietin and erythrocytosis , monoclonal gammopathy , perinephric fluid collection, and intrapulmonary shunting . ... References [ edit ] ^ a b Sykes, David B.; Schroyens, Wilfried; O'Connell, Casey (2011). "TEMPI Syndrome – A Novel Multisystem Disease" . ... "Complete and Partial Responses of the TEMPI Syndrome to Bortezomib" (PDF) . N Engl J Med . 367 (8): 778–780. doi : 10.1056/NEJMc1205806 . ... "Complete Responses in the TEMPI Syndrome after Treatment with Daratumumab". ... "Long-term complete clinical and hematological responses of the TEMPI syndrome after autologous stem cell transplantation" .
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Spondylocarpotarsal Synostosis Syndrome
Medlineplus
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. ... People with spondylocarpotarsal synostosis syndrome have abnormalities and fusion of the bones of the wrist (carpal bones) and ankle (tarsal bones). ... Frequency Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. ... Causes Mutations in the FLNB gene cause spondylocarpotarsal synostosis syndrome. The FLNB gene provides instructions for making a protein called filamin B. ... Learn more about the genes associated with Spondylocarpotarsal synostosis syndrome FLNB MYH3 Inheritance Pattern Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
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3-M Syndrome
Medlineplus
3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. ... Intelligence is unaffected by 3-M syndrome, and life expectancy is generally normal. ... Additional skeletal abnormalities, such as unusually slender long bones in the arms and legs; tall, narrow spinal bones (vertebrae); or slightly delayed bone age may be apparent in x-ray images. A variant of 3-M syndrome called Yakut short stature syndrome has been identified in the isolated Yakut population in the Russian province of Siberia. ... Frequency The prevalence of 3-M syndrome is unknown. About 100 individuals worldwide with this disorder have been described in the medical literature. Causes Mutations in the CUL7 gene cause 3-M syndrome in more than three-quarters of affected individuals, including those in the Yakut population.
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Otofaciocervical Syndrome 1
Omim
A number sign (#) is used with this entry because of evidence that otofaciocervical syndrome-1 (OTFCS1) is caused by a contiguous gene deletion involving the EYA1 gene (601653). ... Genetic Heterogeneity of Otofaciocervical Syndrome OTFCS2 (615560) is caused by mutation in the PAX1 gene (167411) on chromosome 20p11. Clinical Features Otofaciocervical syndrome was described by Fara et al. (1967) in a man and 4 of his 7 children. ... Several features present in the original family, including lateral cervical fistulae, had suggested that otofaciocervical syndrome is a variant of branchiootorenal syndrome (BOR; 113650). ... Rickard et al. (2001) presented evidence that the otofaciocervical syndrome is a contiguous gene deletion syndrome involving the EYA1 gene, which is the site of mutations causing the branchiootorenal syndrome.
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Doors Syndrome
Medlineplus
DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). ... Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears (sensorineural deafness). ... Approximately 50 affected individuals have been described in the medical literature. Causes DOORS syndrome can be caused by mutations in the TBC1D24 gene. ... TBC1D24 gene mutations that cause DOORS syndrome are thought to reduce or eliminate the function of the TBC1D24 protein, but the specific mechanism by which loss of TBC1D24 function leads to the signs and symptoms of DOORS syndrome is not well understood. In about half of affected individuals, no TBC1D24 gene mutation has been identified. The cause of DOORS syndrome in these individuals is unknown.
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Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Wikipedia
External links [ edit ] Classification D ICD - 10 : Q87.1 OMIM : 210720 MeSH : C565898 External resources Orphanet : 2937 v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins
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Craniofrontonasal Dysplasia
Wikipedia
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 74: 1209-1215, 2004. ^ a b c d e f Twigg, S. ... Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. ... Diverse clinical and genetic aspects of craniofrontonasal syndrome. Pediatr Neurol. 2011 Feb;44(2):83-7. ^ a b c Grutzner, E., Gorlin, R. ... Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. ... External links [ edit ] Craniofrontonasal dysplasia at NIH 's Office of Rare Diseases Craniofrontonasal dysplasiaTeebi type at NIH 's Office of Rare Diseases Classification D OMIM : 304110 MeSH : C536456 External resources Orphanet : 1520 v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Extracellular ligand disorders Cytokine EDA Hypohidrotic ectodermal dysplasia Camurati–Engelmann disease Ephrin Craniofrontonasal dysplasia WNT Tetra-amelia syndrome TGF OFC 11 Fas ligand Autoimmune lymphoproliferative syndrome 1B Endothelin EDN3 Waardenburg syndrome IVb Hirschsprung's disease 4 Other DHH ( DHH XY gonadal dysgenesis ) BMP15 ( Premature ovarian failure 4 ) TSHB ( Congenital hypothyroidism 4 ) See also intercellular signaling peptides and proteins
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Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Omim
Mutation in the LAMB2 gene can also cause Pierson syndrome (609049), which is characterized by nephrotic syndrome, distinct ocular anomalies, namely microcoria, and neurodevelopmental delay. For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). Clinical Features Hasselbacher et al. (2006) reported 2 unrelated families with congenital nephrotic syndrome, one of which also had mild ocular abnormalities. ... In the other family, 2 sibs had congenital nephrotic syndrome progressing to end-stage renal failure within the first year of life. ... Detailed neuromuscular examination at age 7 years showed congenital myasthenic syndrome with normal acetylcholinesterase (ACHE; 100740) activity. ... The authors considered it to be a variant form of Pierson syndrome. Molecular Genetics In 2 affected sibs in a consanguineous Turkish family segregating isolated congenital nephrotic syndrome, Hasselbacher et al. (2006) identified a homozygous missense mutation in the LAMB2 gene (150325.0006).
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Uv-Sensitive Syndrome 1
Omim
A number sign (#) is used with this entry because of evidence that UV-sensitive syndrome-1 (UVSS1) is caused by homozygous mutation in the ERCC6 gene (609413) on chromosome 10q11. Cockayne syndrome type B (CSB; 133540) is an allelic disorder with a more severe phenotype, including neurologic and skeletal abnormalities. ... The biochemical findings were reminiscent of Cockayne syndrome, but the patient had no other abnormalities consistent with that disorder. ... However, the patient was assigned to Cockayne syndrome type B by complementation analysis. The report suggested that Cockayne syndrome has a wider spectrum than previously considered.
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Börjeson–forssman–lehmann Syndrome
Wikipedia
Börjeson–Forssman–Lehmann syndrome Other names Intellectual disability-epilepsy-endocrine disorders syndrome Affected males with BFLS Specialty Medical genetics Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability , obesity , and growth defects. [1] Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] Some symptoms of BFLS are discernible at birth, but they develop over time. ... Magnetic resonance imaging , electroencephalography , and electroneuronography can be used to assess the severity of the disease. [2] Mutations in the PHF6 gene have been shown to be the cause of this condition. [4] Other diseases that may need to be distinguished from BFLS include Prader–Willi syndrome , Coffin–Lowry syndrome , Klinefelter syndrome , Wilson–Turner syndrome , Bardet–Biedl syndrome , Smith–Fineman–Myers syndrome (Chudley-Lowry syndrome), and Coffin–Siris syndrome . [1] [3] Treatment [ edit ] There is no cure for BFLS, but its symptoms can be managed with surgery and medication. ... As with other X-linked diseases, it mostly occurs in males; the few females who have been diagnosed had defects in X-inactivation . [2] History [ edit ] BFLS was described in 1962 by the physicians for whom it is named. [2] References [ edit ] ^ a b c d e f g h "Börjeson-Forssman-Lehman Syndrome - NORD (National Organization for Rare Disorders)" . Retrieved 2015-07-25 . ^ a b c d e f g h i j k l m n o "Börjeson-Forssman-Lehmann syndrome" . www.socialstyrelsen.se . Archived from the original on 2019-04-08 . Retrieved 2015-07-24 . ^ a b c d e f g "Orphanet: Borjeson Forssman Lehmann syndrome" . Orphanet . Retrieved 2015-07-24 . ^ Ernst A, Le VQ, Højland AT, Pedersen IS, Sørensen TH, Bjerregaard LL, Lyngbye TJ, Gammelager NM, Krarup H, Petersen MB (2015) The PHF6 mutation c.1A>G; pM1V causes Börjeson-Forsman-Lehmann syndrome in a family with four affected Young boys.
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Hajdu-Cheney Syndrome
Medlineplus
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. ... The signs and symptoms of Hajdu-Cheney syndrome vary greatly among affected individuals, even among members of the same family. ... The risk of developing platybasia and basilar invagination also increases over time. The features of Hajdu-Cheney syndrome overlap significantly with those of a condition called serpentine fibula-polycystic kidney syndrome (SFPKS). ... Based on these similarities, many researchers now consider Hajdu-Cheney syndrome and SFPKS to be variants of the same condition. Frequency Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown.