当前位置： SCI文献检索 > Orphanet Journal of Rare Diseases期刊下所有文献 > Vici syndrome: a review.

Vici syndrome: a review.

Abstract：

:Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver and kidneys. A skeletal myopathy is consistently associated, and characterized by marked fibre type disproportion, increase in internal nuclei, numerous vacuoles, abnormal mitochondria and glycogen storage. Life expectancy is markedly reduced.Vici syndrome is due to recessive mutations in EPG5 on chromosome 18q12.3, encoding ectopic P granules protein 5 (EPG5), a key autophagy regulator in higher organisms. Autophagy is a fundamental cellular degradative pathway conserved throughout evolution with important roles in the removal of defective proteins and organelles, defence against infections and adaptation to changing metabolic demands. Almost 40 EPG mutations have been identified to date, most of them truncating and private to individual families.The differential diagnosis of Vici syndrome includes a number of syndromes with overlapping clinical features, neurological and metabolic disorders with shared CNS abnormalities (in particular callosal agenesis), and primary neuromuscular disorders with a similar muscle biopsy appearance. Vici syndrome is also the most typical example of a novel group of inherited neurometabolic conditions, congenital disorders of autophagy.Management is currently largely supportive and symptomatic but better understanding of the underlying autophagy defect will hopefully inform the development of targeted therapies in future.

journal_name

Orphanet J Rare Dis

journal_title

Orphanet journal of rare diseases

authors

Byrne S,Dionisi-Vici C,Smith L,Gautel M,Jungbluth H

doi

10.1186/s13023-016-0399-x

subject

Has Abstract

pub_date

2016-02-29 00:00:00

pages

21

issn

1750-1172

pii

10.1186/s13023-016-0399-x

journal_volume

11

pub_type

杂志文章,评审

相关文献

Orphanet Journal of Rare Diseases文献大全
  • European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.

    abstract：:The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic a...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1186-2

    authors： van de Laar IMBH,Arbustini E,Loeys B,Björck E,Murphy L,Groenink M,Kempers M,Timmermans J,Roos-Hesselink J,Benke K,Pepe G,Mulder B,Szabolcs Z,Teixidó-Turà G,Robert L,Emmanuel Y,Evangelista A,Pini A,von Kodolitsch Y,J

    更新日期：2019-11-21 00:00:00

  • Reproductive options for families at risk of Osteogenesis Imperfecta: a review.

    abstract：BACKGROUND:Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 differe...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-020-01404-w

    authors： Zhytnik L,Simm K,Salumets A,Peters M,Märtson A,Maasalu K

    更新日期：2020-05-27 00:00:00

  • Detection of alpha-1 antitrypsin deficiency: the past, present and future.

    abstract：BACKGROUND:Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was h...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-020-01352-5

    authors： Brantly M,Campos M,Davis AM,D'Armiento J,Goodman K,Hanna K,O'Day M,Queenan J,Sandhaus R,Stoller J,Strange C,Teckman J,Wanner A

    更新日期：2020-04-19 00:00:00

  • Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.

    abstract：BACKGROUND:McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manif...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-016-0496-x

    authors： Cho EK,Kim J,Yang A,Ki CS,Lee JE,Cho SY,Jin DK

    更新日期：2016-08-09 00:00:00

  • Genome sequencing and implications for rare disorders.

    abstract：:The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~ 20,000 protein-coding genes and their consequent impact on individual health and expression of Mendelian disease. The step-w...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-019-1127-0

    authors： Posey JE

    更新日期：2019-06-24 00:00:00

  • Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.

    abstract：BACKGROUND:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-8-92

    authors： Guillén-Navarro E,Domingo-Jiménez MR,Alcalde-Martín C,Cancho-Candela R,Couce ML,Galán-Gómez E,Alonso-Luengo O

    更新日期：2013-06-25 00:00:00

  • Achondroplasia: a comprehensive clinical review.

    abstract：:Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-018-0972-6

    authors： Pauli RM

    更新日期：2019-01-03 00:00:00

  • Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

    abstract：BACKGROUND:Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin protein 2 (PMP2) was identified as a novel cause for CMT neuropathy with three mutations that structu...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1162-x

    authors： Palaima P,Chamova T,Jander S,Mitev V,Van Broeckhoven C,Tournev I,Peeters K,Jordanova A

    更新日期：2019-08-14 00:00:00

  • Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

    abstract：:Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein RAB18), or TBC1D20 ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 信件

    doi：10.1186/s13023-014-0113-9

    authors： Picker-Minh S,Busche A,Hartmann B,Spors B,Klopocki E,Hübner C,Horn D,Kaindl AM

    更新日期：2014-10-21 00:00:00

  • Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

    abstract：BACKGROUND:The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-8-75

    authors： Ferraris A,Bernardini L,Sabolic Avramovska V,Zanni G,Loddo S,Sukarova-Angelovska E,Parisi V,Capalbo A,Tumini S,Travaglini L,Mancini F,Duma F,Barresi S,Novelli A,Mercuri E,Tarani L,Italian CBCD Study Group.,Bertini E,D

    更新日期：2013-05-16 00:00:00

  • Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.

    abstract：BACKGROUND:A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1064-y

    authors： Clayton-Smith J,Bromley R,Dean J,Journel H,Odent S,Wood A,Williams J,Cuthbert V,Hackett L,Aslam N,Malm H,James G,Westbom L,Day R,Ladusans E,Jackson A,Bruce I,Walker R,Sidhu S,Dyer C,Ashworth J,Hindley D,Diaz G

    更新日期：2019-07-19 00:00:00

  • A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

    abstract：BACKGROUND:Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of exis...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01493-7

    authors： Atalaia A,Thompson R,Corvo A,Carmody L,Piscia D,Matalonga L,Macaya A,Lochmuller A,Fontaine B,Zurek B,Hernandez-Ferrer C,Rheinard C,Gómez-Andrés D,Desaphy JF,Schon K,Lohmann K,Jennings MJ,Synofzik M,Riess O,Yaou RB,

    更新日期：2020-08-12 00:00:00

  • The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community.

    abstract：:The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International...

    journal_title：Orphanet journal of rare diseases

    pub_type： 社论

    doi：10.1186/1750-1172-9-30

    authors： Aymé S,Rodwell C

    更新日期：2014-02-28 00:00:00

  • Behçet's disease.

    abstract：UNLABELLED:DEFINITION OF THE DISEASE: Behçet disease (BD) is a chronic, relapsing, multisystemic disorder characterized by mucocutaneous, ocular, vascular and central nervous system manifestations. EPIDEMIOLOGY:BD seems to cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin....

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/1750-1172-7-20

    authors： Saadoun D,Wechsler B

    更新日期：2012-04-12 00:00:00

  • Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease.

    abstract：BACKGROUND:It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enab...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01544-z

    authors： Dinur T,Istaiti M,Frydman D,Becker-Cohen M,Szer J,Zimran A,Revel-Vilk S

    更新日期：2020-10-13 00:00:00

  • Monoclonal antibodies to 65kDa glutamate decarboxylase induce epitope specific effects on motor and cognitive functions in rats.

    abstract：BACKGROUND:Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65). A pathological role of these antibodies has been suggested by their capacity to inhibit GAD65 enzyme activity and by the obser...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-8-82

    authors： Hampe CS,Petrosini L,De Bartolo P,Caporali P,Cutuli D,Laricchiuta D,Foti F,Radtke JR,Vidova V,Honnorat J,Manto M

    更新日期：2013-06-05 00:00:00

  • Sickle cell disease induces resistance to cutaneous carcinogenesis.

    abstract：BACKGROUND:While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SCD), presenting chronic skin ulcers or treated with HU. The objective was to estimate the risk of cut...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-1341-9

    authors： Soutou B,Senet P,Lionnet F,Habibi A,Aractingi S

    更新日期：2020-03-06 00:00:00

  • MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

    abstract：BACKGROUND:Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of h...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-016-0476-1

    authors： Fiorillo C,Astrea G,Savarese M,Cassandrini D,Brisca G,Trucco F,Pedemonte M,Trovato R,Ruggiero L,Vercelli L,D'Amico A,Tasca G,Pane M,Fanin M,Bello L,Broda P,Musumeci O,Rodolico C,Messina S,Vita GL,Sframeli M,Gibe

    更新日期：2016-07-07 00:00:00

  • European lipodystrophy registry: background and structure.

    abstract：BACKGROUND:Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-1295-y

    authors： von Schnurbein J,Adams C,Akinci B,Ceccarini G,D'Apice MR,Gambineri A,Hennekam RCM,Jeru I,Lattanzi G,Miehle K,Nagel G,Novelli G,Santini F,Santos Silva E,Savage DB,Sbraccia P,Schaaf J,Sorkina E,Tanteles G,Vantyghem MC

    更新日期：2020-01-15 00:00:00

  • Joubert Syndrome and related disorders.

    abstract：:Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD ra...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/1750-1172-5-20

    authors： Brancati F,Dallapiccola B,Valente EM

    更新日期：2010-07-08 00:00:00

  • Saccadic reaction time and ocular findings in phenylketonuria.

    abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disorder has been poorly recognized by ophthalmologists. Neurophysiologic tests imply...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01407-7

    authors： Hopf S,Nowak C,Hennermann JB,Schmidtmann I,Pfeiffer N,Pitz S

    更新日期：2020-05-25 00:00:00

  • Adverse event rates and economic burden associated with purine nucleoside analogs in patients with hairy cell leukemia: a US population-retrospective claims analysis.

    abstract：BACKGROUND:Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence regarding AEs that are associated with PNAs, we used commercial data to assess AE rates, AE-related he...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-1325-9

    authors： Epperla N,Pavilack M,Olufade T,Bashyal R,Li J,Kabadi SM,Yuce H,Andritsos L

    更新日期：2020-02-13 00:00:00

  • The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.

    abstract：BACKGROUND:X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads t...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01434-4

    authors： Padidela R,Nilsson O,Makitie O,Beck-Nielsen S,Ariceta G,Schnabel D,Brandi ML,Boot A,Levtchenko E,Smyth M,Jandhyala R,Mughal Z

    更新日期：2020-06-30 00:00:00

  • Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

    abstract：BACKGROUND:Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. PATIENTS AND METHODS:We report four cases with transient hydrops fetalis resulting from LS...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/1750-1172-7-86

    authors： Whybra C,Mengel E,Russo A,Bahlmann F,Kampmann C,Beck M,Eich E,Mildenberger E

    更新日期：2012-11-08 00:00:00

  • Drug development for exceptionally rare metabolic diseases: challenging but not impossible.

    abstract：BACKGROUND:We studied to what extent the level of scientific knowledge on exceptionally rare metabolic inherited diseases and their potential orphan medicinal products is associated with sponsors deciding to apply for an orphan designation at the US Food and Drug Administration (FDA) or the European Medicines Agency (E...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-8-179

    authors： Putzeist M,Mantel-Teeuwisse AK,Wied CC,Hoes AW,Leufkens HG,de Vrueh RL

    更新日期：2013-11-15 00:00:00

  • Krüppel-like zinc finger proteins in end-stage COPD lungs with and without severe alpha1-antitrypsin deficiency.

    abstract：BACKGROUND:Chronic obstructive pulmonary disease (COPD) is influenced by environmental and genetic factors. An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD). A study was undertaken to investigate gene expression patterns in end-stage COPD ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-7-29

    authors： Koczulla AR,Jonigk D,Wolf T,Herr C,Noeske S,Klepetko W,Vogelmeier C,von Neuhoff N,Rische J,Wrenger S,Golpon H,Voswinckel R,Luisetti M,Ferrarotti I,Welte T,Janciauskiene S

    更新日期：2012-05-23 00:00:00

  • Patent arterial duct.

    abstract：:Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/1750-1172-4-17

    authors： Forsey JT,Elmasry OA,Martin RP

    更新日期：2009-07-10 00:00:00

  • Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis.

    abstract：BACKGROUND:The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01565-8

    authors： Paulsson Rokke H,Sadat Gousheh N,Westermark P,Suhr OB,Anan I,Ihse E,Pilebro B,Wixner J

    更新日期：2020-10-08 00:00:00

  • Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.

    abstract：:Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seve...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-016-0458-3

    authors： Giugliani R,Vairo FP,Riegel M,de Souza CF,Schwartz IV,Pena SD

    更新日期：2016-06-10 00:00:00

  • Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

    abstract：:An amendment to this paper has been published and can be accessed via the original article. ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,已发布勘误

    doi：10.1186/s13023-020-01464-y

    authors： Opladen T,López-Laso E,Cortès-Saladelafont E,Pearson TS,Sivri HS,Yildiz Y,Assmann B,Kurian MA,Leuzzi V,Heales S,Pope S,Porta F,García-Cazorla A,Honzík T,Pons R,Regal L,Goez H,Artuch R,Hoffmann GF,Horvath G,Thöny B

    更新日期：2020-08-05 00:00:00