The absence of renal stones and late presentation of cystinuria in Patient 2 also is perplexing. We would expect Patient 2 to present with urolithiasis and cystinuria earlier. [social.cn1699.cn]

They present with a phenotype intermediate between HCS and 2p21 deletion syndrome. BMJ Case Rep. 2009:0-0(2009) [PubMed] [Europe PMC] [uniprot.org]

They present with a phenotype intermediate between HCS and 2p21 deletion syndrome. These patients facilitate the elucidation of the contribution of each gene to the phenotype in the different 2p21 deletion syndromes. [jmg.bmj.com]

Growth impairment is still present but slowly improving. [frontiersin.org]

Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. [researcher-app.com]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. [karger.com]

  delay nephrolithiasis cystinuria neonatal seizures hypotonia [panelapp.genomicsengland.co.uk]

  Genes related to 2p21 Microdeletion Syndrome SLC3A1 PREPL PPM1B CAMKMT View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to 2p21 Microdeletion Syndrome Seizures Global developmental delay Growth delay Failure [mendelian.co]

  We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial [unboundmedicine.com]

• Poor Feeding

  Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions including the cystinuria gene SLC3A1 and the adjacent PREPL gene. [zora.uzh.ch]

  Hypotonia‐cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions including the cystinuria gene SLC3A1 and the adjacent PREPL gene. [semanticscholar.org]

  In addition to cystinuria, people with this condition have low muscle tone (hypotonia) and poor feeding, which usually improves by early childhood. [medlineplus.gov]

• Feeding Difficulties

  Case Report A 16-month-old male patient was admitted to our center with complaints of restlessness (sleep disturbance, crying episodes, feeding difficulty/reluctance), body laxity, and growth retardation. [karger.com]

  Orphanet: 58 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities [malacards.org]

• Failure to Thrive

  […] to thrive growth hormone deficiency 606407 lactic acidemia respiratory chain complex IV deficiency hyperphagia minor facial dysmorphism severe somatic and developmental delay nephrolithiasis cystinuria neonatal seizures hypotonia [panelapp.genomicsengland.co.uk]

  A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis [ebi.ac.uk]

  Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. [informatics.jax.org]

  Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. [researcher-app.com]

  Failure to thrive usually persists for several years, followed by a period of hyperphagia and excessive weight gain. Growth retardation is usually observed, which responds well to growth hormone therapy. [eurekaselect.com]

• Almond-Shaped Eyes

  Clinical description Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. [orpha.net]

  Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. [ncbi.nlm.nih.gov]

• Frontal Bossing

  Clinical description Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. [orpha.net]

  Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. [ncbi.nlm.nih.gov]

  bossing Hypogonadism Hypoglycemia Intellectual disability, moderate And another 9 symptoms. [mendelian.co]

  Aspecific dysmorphisms with mild bitemporal narrowing and frontal bossing, dolichocephaly, micrognathia and a slight ptosis were also present. [frontiersin.org]

  bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). [malacards.org]

• Seizure

  Medical Term Other Names Description Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance [rarediseases.oscar.ncsu.edu]

  […] weight gain in late childhood failure to thrive growth hormone deficiency 606407 lactic acidemia respiratory chain complex IV deficiency hyperphagia minor facial dysmorphism severe somatic and developmental delay nephrolithiasis cystinuria neonatal seizures [panelapp.genomicsengland.co.uk]

  Mendelian Rare Diseases 2P21 MICRODELETION SYNDROME Description The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. [mendelian.co]

  We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial [unboundmedicine.com]

  Disease definition The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. [orpha.net]

• Neonatal Seizures

  We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial [unboundmedicine.com]

  Disease definition The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. [orpha.net]

  The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. [ncbi.nlm.nih.gov]

• Neonatal Hypotonia

  The hypotonia in these hypotonia-cystinuria (HCS) patients has been attributed to the total loss of the PREPL protein. [zora.uzh.ch]

  - 2013 deletion 2p21 homozygous gene deletion syndrome hypotonia-cystinuria syndrome neonatal hypotonia Amino Acid Transport Systems, Basic Amino Acid Transport Systems, Neutral Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 Cystinuria [sonar.ch]

  Homozygous or compound heterozygous loss of PREPL is predicted to cause neonatal hypotonia and severe feeding problems. Failure to thrive usually persists for several years, followed by a period of hyperphagia and excessive weight gain. [eurekaselect.com]

  CMS22 is an autosomal recessive form characterized by neonatal hypotonia. Similarités de Séquence: Belongs to the peptidase S9A family. Localisation Cellulaire: Cytoplasm > Cytosol. Golgi apparatus > trans-Golgi network. Cytoplasm > Cytoskeleton. [antibodies.com]

  Given the global occurrence, HCS should be considered in the differential diagnosis of neonatal hypotonia. [nature.com]

• Convulsions

  […] intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive [rarediseases.oscar.ncsu.edu]

• Delayed Milestone

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

The diagnostic workup in this patient illustrates the need for a careful clinical examination in context with powerful molecular genetic tools in patients with unusual phenotypes. [zora.uzh.ch]

• Nephrolithiasis

  Nephrolithiasis occurs at variable ages. Synonyms: HCS [ebi.ac.uk]

  […] and sudden unexplained death in childhood review BIALLELIC, autosomal or pseudoautosomal Sources Expert Review Green Phenotypes hyperphagia lactic acidemia mild/moderate mental retardation Hypotonia-cystinuria syndrome (HCS) 606407 failure to thrive nephrolithiasis [panelapp.genomicsengland.co.uk]

  Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. [informatics.jax.org]

  Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral disturbances. [researcher-app.com]

  Implication dans la Maladie: Hypotonia-cystinuria syndrome: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood [antibodies.com]

Early diagnosis is crucial because treatment with tiopronin can prevent stone formation and chronic kidney disease (3). [frontiersin.org]

The baby was kept under regular follow-up as there were no observable signs and symptoms for immediate treatment. [jisppd.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Full text links Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter [read.qxmd.com]

Patients respond well to growth hormone treatment. Electromyography and brain magnetic resonance imaging are normal, when performed. In addition, patients have classical cystinuria type I causing nephrolithiasis at variable ages. [nature.com]

PMID: 17579669 Prognosis Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G Am J Hum Genet 2006 Jan;78(1):38-51. Epub 2005 Nov 23 doi: 10.1086/498852. [ncbi.nlm.nih.gov]

There is a poor prognosis for those with severe brain malformations, most often they die in the newborn. There is low recurrence risk rate to siblings for those cases that arise de novo. [jisppd.com]

In clinical practice, the molecular genetic testing results only scarcely influence the prognosis and therapy of cystinuria as causative therapies do currently not exist. [ojrd.biomedcentral.com]

Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype. Blood. 2005; 106:3733-9. [haematologica.org]

Etiology The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21). [orpha.net]

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. Kidney Int. 2003 Nov;64(5):1564-72. doi: 10.1046/j.1523-1755.2003.00250.x. Citation on PubMed [medlineplus.gov]

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. Kidney Int. 2003, 64: 1564-1572. 10.1046/j.1523-1755.2003.00250.x. [ojrd.biomedcentral.com]

Artículo en Chino | WPRIM | ID: wpr-921958 RESUMEN [email protected]#To identify the etiology of a patient with severe symptoms of DMD and to trace its pathogenic gene, so as to provide a basis for genetic counseling and clinical intervention. [search.bvsalud.org]

Summary Epidemiology It has been described in seven patients from three families of a small Bedouin clan. [orpha.net]

Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology 138, 487–492 (2010). Article Google Scholar Kempers, M. J. et al. [nature.com]

Cancer epidemiology in the last century and the next decade. Nature2001;411(6835):390-5. http://doi.org/cxcvxb. [ Links ] 3. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. GLOBOCAN 2008: Cancer incidence and mortality worldwide. [scielo.org.co]

References Hesse A: Urinary calculi I: epidemiology, laboratory diagnosis, genetics and infections. Urol A. 2002, 41: 496-508. 10.1007/s00120-002-0235-x. [ojrd.biomedcentral.com]

The detection rate for mutations in these genes is larger than 85%, but it is influenced by the ethnic origin of a patient and the pathophysiological significance of the mutations. [ojrd.biomedcentral.com]

It is likely that an effective treatment for Duchenne muscular dystrophy requires combinations of therapies that address both the primary defect and its secondary pathophysiological consequences. [search.bvsalud.org]

Conclusion: Physicians should consider contiguous gene deletion syndrome in Xp21 in the infants with myopathic compromise, increased levels of creatine phosphokinase and pseudohypertriglyceridaemia to be able to prevent and treat the metabolic complications [degruyter.com]

Early diagnosis is crucial because treatment with tiopronin can prevent stone formation and chronic kidney disease (3). [frontiersin.org]

If parents wish to have a child then in vitro fertilization can be advised with embryo biopsy and only healthy embryos are transferred to mother uterus to prevent transmission of 18p deletion. [8] Table 1: Clinical features observed in deletion of the [jisppd.com]

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. [scielo.org.co]

Current treatment of cystinolithiasis is currently focused on prevention of stone formation by reducing cystine excretion and concentration and by reducing cystine to the more soluble cysteine (for review: [4]). [ojrd.biomedcentral.com]