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Mandibuloacral Dysplasia
Wikipedia
Mandibuloacral dysplasia Other names MAD [1] Mandibuloacral dysplasia ( MAD ) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis , atrophy of the skin of the hands and feet, and typical facial changes. [2] : 576 Contents 1 Types 2 See also 3 References 4 External links Types [ edit ] Type OMIM Gene Locus MADA 248370 LMNA [3] 1q21.2 MADB 608612 ZMPSTE24 [4] 1p34 See also [ edit ] Hereditary sclerosing poikiloderma Skin lesion References [ edit ] ^ "Mandibuloacral dysplasia" . ... "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome" . Eur J Hum Genet . 20 (11): 1134–40. doi : 10.1038/ejhg.2012.77 . ... External links [ edit ] Classification D OMIM : 248370 DiseasesDB : 33029 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 This Genodermatoses article is a stub .
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Kleefstra Syndrome
Medlineplus
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). ... Frequency The prevalence of Kleefstra syndrome is unknown. Only recently has testing become available to distinguish it from other disorders with similar features. Causes Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. ... A few individuals with Kleefstra syndrome have inherited the chromosome 9q34.3 deletion from an unaffected parent who is mosaic for the deletion.
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Caudal Regression Syndrome
Medlineplus
Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. ... Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. ... One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. ... Many scientists think that the cause of caudal regression syndrome is a combination of abnormal mesoderm development and decreased blood flow to the caudal areas of the fetus. Inheritance Pattern Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family.
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Sanfilippo Syndrome
Wikipedia
Of all of the MPS diseases, Sanfilippo syndrome produces the fewest physical abnormalities. ... In Sanfilippo syndrome type A, the mean age at death (± standard deviation) was 15.22 ± 4.22 years. ... See also [ edit ] Mucopolysaccharidosis Hurler syndrome ( MPS I ) Hunter syndrome (MPS II) Morquio syndrome (MPS IV) List of neurological conditions and disorders References [ edit ] ^ Marta Figeiredo. ... "Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment" . ... Material was copied from this source, which is available under a Creative Commons Attribution 4.0 International License . ^ [Awareness Days - International Calendar] https://www.awarenessdays.com/awareness-days-calendar/world-sanfilippo-awareness-day-2019/ ^ [World Sanfilippo Awareness Day] https://curesanfilippofoundation.org/worldsanfilippoawarenessday/ External links [ edit ] Media related to Sanfilippo syndrome at Wikimedia Commons Classification D ICD - 10 : E76.2 ICD - 9-CM : 277.5 OMIM : 252900 252920 252940 252930 MeSH : D009084 DiseasesDB : 29177 External resources MedlinePlus : 001210 eMedicine : ped/2040 v t e Lysosomal storage diseases : Inborn errors of carbohydrate metabolism ( Mucopolysaccharidoses ) Catabolism MPS I Hurler Syndrome , Hurler-Scheie Syndrome , Scheie Syndrome MPS II: Hunter Syndrome MPS III: Sanfilippo Syndrome MPS IV: Morquio Syndrome MPS VI: Maroteaux-Lamy Syndrome MPS VII: Sly Syndrome MPS IX: Hyaluronidase deficiency
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Otopalatodigital Syndrome Type 1
Medlineplus
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. ... Frequency Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown. Causes Otopalatodigital syndrome type 1 is caused by mutations in the FLNA gene. ... The FLNA gene mutations that cause otopalatodigital syndrome type 1 result in changes to the filamin A protein in the region that binds to actin.
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Coffin-Siris Syndrome
Orphanet
A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations. Epidemiology More than 150 cases of genetically confirmed Coffin-Siris syndrome (CSS) have been clinically reported to date. ... Clinical description Coffin-Siris syndrome is a clinically and genetically heterogeneous disorder. ... Differential diagnosis Differential diagnoses include Nicolaides-Baraitser syndrome, brachymorphism-onychodysplasia-dysphalangism, DOOR syndrome, hyperphosphatasia-intellectual deficiency syndrome, Borjeson-Forssman-Lehmann syndrome, Wiedemann-Steiner syndrome, Rubinstein-Taybi syndrome and Cornelia de Lange syndrome. Fetal hydantoin syndrome may mimick Coffin-Siris syndrome.ARID1B, ARID1A, SMARCE1, SOX11, SMARCB1, SMARCA4, SMARCA1, SMARCA2, DPF2, ARID2, PHF6, SOX4, SMARCC2, BANF1, WG, SDHD, IL10, SDHB, SDHC, CMAS, IL17RB, CCL26, FAM3C, SDS, NIPBL, PTPN22, SMARCAL1, WNT16, PGR, TNFRSF10C, MYDGF, CD14, IL25, CPED1, ATR, ATM, SARDH, TNF, TNFSF10, EDN1, PRTN3, MPO, SET, MMP9, MMP2, ITGB2, IL5, FASLG, SORD, HLA-DRB4, HLA-DRB1, TRBV20OR9-2, TGFB1, TGFB2, PREP, FAS
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Axenfeld-Rieger Syndrome
Medlineplus
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. ... The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. ... Frequency Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people. Causes Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1 . ... Some people with Axenfeld-Rieger syndrome do not have identified mutations in the PITX2 or FOXC1 genes.
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Xia-Gibbs Syndrome
Medlineplus
Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development. ... Other signs and symptoms of Xia-Gibbs syndrome vary among affected individuals. ... For example, the tissue connecting the left and right halves of the brain (the corpus callosum) can be abnormally thin. Xia-Gibbs syndrome can also affect physical development. ... Most of the AHDC1 gene mutations involved in Xia-Gibbs syndrome lead to production of abnormally short AHDC1 proteins. ... Learn more about the gene associated with Xia-Gibbs syndrome AHDC1 Inheritance Pattern Xia-Gibbs syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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Sotos Syndrome
Medlineplus
However, adult height is usually in the normal range. People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. ... It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer. ... Causes Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. ... However, it remains unclear exactly how a shortage of this protein during development leads to overgrowth, learning disabilities, and the other features of Sotos syndrome. Learn more about the gene associated with Sotos syndrome NSD1 Inheritance Pattern About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. ... These cases helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance.
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Inherited Disorders Of Trafficking
Wikipedia
Please help improve the article by providing more context for the reader . ( September 2015 ) ( Learn how and when to remove this template message ) Inherited disorders of trafficking ( IDT ) are a family of disorders that involve vesicular delivery of proteins . [1] They were characterized in 1975. [2] CEDNIK syndrome (Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome) is a rare inherited genetic skin condition ( Genodermatosis ) which has been associated with a loss-of-function mutation in SNAP29 ; SNAP29 is a member of the SNAP Receptor (SNARE) protein family. [3] SNARE proteins assist with vesicle trafficking and are responsible for the fusion events between the membranes of vesicles and the membranes of their targets. ... A mutation/deficiency in this protein which occurs in patients with CEDNIK syndrome results in an impaired maturation and secretion of lamellar granules —these are vesicular structures derived from the Golgi . [3] SNAP29 is necessary for proper epidermal differentiation. [3] Mutations in SNAP29 result in problems with molecular trafficking and transport, and leads to CEDNIK syndrome . ... PMID 1096303 . ^ a b c Fuchs-Telem, D.; Stewart, H.; Rapaport, D.; Nousbeck, J.; Gat, A.; Gini, M.; Lugassy, Y.; Emmert, S.; Eckl, K.; Hennies, H.C.; Sarig, O.; Goldsher, D.; Meilik, B.; Ishida-Yamamoto, A.; Horowitz, M.; Sprecher, E. (2011). "CEDNIK syndrome results from loss-of-function mutations in SNAP29". ... Freeman and Company. [ page needed ] v t e Inherited disorders of trafficking / vesicular transport proteins Vesicle formation Lysosome / Melanosome : HPS1 – HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome COPII : SEC23A Cranio-lenticulo-sutural dysplasia COG7 CDOG IIE APC: AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3 Rab ARL6 BBS3 RAB27A Griscelli syndrome 2 CHM Choroideremia MLPH Griscelli syndrome 3 Cytoskeleton Myosin : MYO5A Griscelli syndrome 1 Microtubule : SPG4 Hereditary spastic paraplegia 4 Kinesin : KIF5A Hereditary spastic paraplegia 10 Spectrin : SPTBN2 Spinocerebellar ataxia 5 Vesicle fusion Synaptic vesicle : SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4 Caveolae : CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B , Long QT syndrome 9 Vacuolar protein sorting : VPS33B ARC syndrome VPS13B Cohen syndrome DYSF Distal muscular dystrophy See also vesicular transport proteins This genetic disorder article is a stub .
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Fg Syndrome
Medlineplus
FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. ... Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly ). ... Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders. ... Learn more about the genes associated with FG syndrome CASK FLNA MED12 Additional Information from NCBI Gene: UPF3B Inheritance Pattern FG syndrome is inherited in an X-linked recessive pattern .
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Dicer1 Syndrome
Medlineplus
Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma). Frequency DICER1 syndrome is a rare condition; its prevalence is unknown. Causes DICER1 syndrome is caused by mutations in the DICER1 gene. ... Most of the gene mutations involved in DICER1 syndrome lead to an abnormally short Dicer protein that is unable to aid in the production of miRNA. ... Learn more about the gene associated with DICER1 syndrome DICER1 Inheritance Pattern DICER1 syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered gene is sufficient to cause the disorder.
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Andermann Syndrome
Medlineplus
Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). ... Andermann syndrome is associated with a shortened life expectancy, but affected individuals typically live into adulthood. Frequency Andermann syndrome is most often seen in the French-Canadian population of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this population, Andermann syndrome occurs in almost 1 in 2,000 newborns. ... Mutations in the SLC12A6 gene that cause Andermann syndrome disrupt the function of the K-Cl cotransporter protein.
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Cataract-Microcornea Syndrome
Wikipedia
Find sources: "Cataract-microcornea syndrome" – news · newspapers · books · scholar · JSTOR ( October 2015 ) ( Learn how and when to remove this template message ) Cataract-microcornea syndrome Other names Microcornea cataract syndrome [1] Cataract-microcornea syndrome is inherited in an autosomal dominant manner [2] The cataract-microcornea syndrome is the association of congenital cataract and microcornea. Contents 1 Genetics 2 Diagnosis 3 Treatment 4 References 5 External links Genetics [ edit ] Mutations in ABCA3 were found to be associated to this syndrome. [3] Diagnosis [ edit ] This section is empty. ... You can help by adding to it . ( September 2017 ) References [ edit ] ^ "Cataract microcornea syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome" . Investigative Ophthalmology & Visual Science . 55 (12): 8031–43. doi : 10.1167/iovs.14-14098 .
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Arakawa's Syndrome Ii
Wikipedia
Arakawa's syndrome II Other names Methionine synthase deficiency , Tetrahydrofolate-methyltransferase deficiency syndrome , and N5-methylhomocysteine transferase deficiency . [1] methylcobalamin Arakawa's syndrome II [2] is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase ; affected individuals cannot properly metabolize methylcobalamin , a type of Vitamin B 12 . Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Management 5 Eponym 6 References 7 External links Presentation [ edit ] This disorder causes neurological problems, including intellectual disability , brain atrophy and ventricular dilation, myoclonus , hypotonia , and epilepsy . [ citation needed ] It is also associated with growth retardation , megaloblastic anemia , pectus excavatum , scoliosis , vomiting , diarrhea , and hepatosplenomegaly . [ citation needed ] Genetics [ edit ] Arakawa's syndrome II has an autosomal dominant pattern of inheritance . Arakawa's syndrome II is inherited in an autosomal dominant manner. ... You can help by adding to it . ( October 2017 ) Eponym [ edit ] It is called "Arakawa syndrome 2" after Tsuneo Arakawa (1949–2003), a Japanese Physician.; [2] [3] in this context, "Arakawa syndrome 1" refers to Glutamate formiminotransferase deficiency. ... External links [ edit ] Classification D OMIM : 156570 MeSH : C537426 DiseasesDB : 32787 Arakawa's syndrome 2 at NIH 's Office of Rare Diseases
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Patterson Syndrome
Wikipedia
Patterson syndrome Other names Pseudoleprechaunism syndrome, Patterson type Patterson syndrome , also called pseudoleprechaunism , is an extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism ). ... Joseph Hanan Patterson. [1] It was described by Patterson and Watkins in 1962. [2] The pathogenesis and cause of the Patterson syndrome was unknown until 1981. [3] Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 References 5 External links Signs and symptoms [ edit ] Patterson syndrome is characterized by the patient's having an unusual facial look, similar to that caused by Leprechaunism. ... PMID 14484402 . ^ David TJ, Webb BW, Gordon IR (1981). "The Patterson syndrome, leprechaunism, and pseudoleprechaunism" .
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Emery–dreifuss Muscular Dystrophy
Wikipedia
External links [ edit ] Classification D ICD - 10 : G71.0 ICD - 9-CM : 359.1 OMIM : 181350 310300 616516 614302 MeSH : D020389 DiseasesDB : 31705 SNOMED CT : 129620000 External resources eMedicine : neuro/513 GeneReviews : Emery–Dreifuss Muscular Dystrophy Orphanet : 261 Scholia has a topic profile for Emery–Dreifuss muscular dystrophy . v t e Muscular dystrophy Types Congenital Dystrophinopathy Becker's Duchenne Distal Emery-Dreifuss Facioscapulohumeral Limb-girdle muscular dystrophy Calpainopathy Myotonic Oculopharyngeal National/International Organizations Muscular Dystrophy Association (USA) Muscular Dystrophy Canada Myotonic Dystrophy Foundation Muskelsvindfonden (Denmark) National/International Events MDA Muscle Walk (USA) Labor Day Telethon (defunct; USA/Canada) Décrypthon (France) Grøn Koncert (Denmark) Clinical trials Stamulumab (MYO-029) Category 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 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 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 proteinsSYNE1, LMNA, SYNE2, EMD, FHL1, TMEM43, ZMPSTE24, GCY, COX8A, LMO7, OPN1MW3, OPN1MW, TMEM201, OPN1MW2, LMNB2, YTHDC1, HECW2, EIF3K, LEXM, ANKRD2, SUN2, LEMD3, SUN1, LEMD2, HECW1, AKT1, BCLAF1, TIMP3, CAPN3, ADGRE1, F9, FLNA, FLNB, FLNC, G6PD, GOLGB1, ISL1, AFDN, SREBF1, ST14, TGFB2, BRCA1, TIMP2, TIMP1
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Sick Cell Syndrome
Wikipedia
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( September 2017 ) Sick cell syndrome Other names Cell sickness syndrome Sick cell syndrome is a medical condition characterised by reduced functioning of the cellular Na+/K+ pump , [1] which is responsible for maintaining the internal ion homeostasis. The clinical result is a rise in blood K+ level and drop of blood Na+ levels There are a wide range of possible pathological conditions that can cause sick cell syndrome, including: hypoxia sepsis hypovolaemia malnourishment This syndrome is well known in the field of palliative medicine as many terminal patients develop this condition. References [ edit ] ^ Benito Ruiz, J; Baena Montilla, P; Navarro Monzonis, A (Aug 1990). "Sick cell syndrome in a burned patient". Burns . 16 (4): 309–12. doi : 10.1016/0305-4179(90)90147-O .
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Teunissen–cremers Syndrome
Wikipedia
Teunissen–Cremers syndrome Other names Stapes ankylosis with broad thumbs and toes Specialty Orthopedic Teunissen–Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can include the bones of the inner ear, fingers and toes. [1] This can result in conductive hearing loss and finger deformities. [1] [2] References [ edit ] ^ a b Hirshoren, N; Gross, M; Banin, E; Sosna, J; Bargal, R; Raas-Rothschild, A (Jul–Aug 2008). "P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes". ... Hereditary Hearing Loss and Its Syndromes . Oxford University Press. p. 405. ... An autosomal dominant inherited syndrome with congenital stapes ankylosis.
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Christianson Syndrome
Gard
Christianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. Many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with Angelman syndrome . Christianson syndrome is caused by mutations in the SLC9A6 gene, which is located within the q24-q27 interval of the X chromosome.