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1,574 Possible Causes for (missense), LAMB2, Nontruncating, Pierson, a, Congenital, display, from, isolated, MAY, milder, mutations, nephrotic, of, phenotypes, ranging, Syndrome, Syndrome, to, variable, variant

Did you mean: (missense), LAMB2, Nontruncating, Pierson, a, Congenital, display, from, isolated, MAY, miner, mutations, nephritis, of, phenotypes, ridging, Syndrome, Syndrome, to, variable, variant

  • Proteinuria

    BACKGROUND: Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing[ncbi.nlm.nih.gov] These locally administered agents may play a role in the development of proteinuria and modulate antibody-mediated phenomena.[ncbi.nlm.nih.gov] An algorithm combining the moderate sensitivity of uMCP-1 and high specificity of uTWEAK displayed great specificity and sensitivity for proteinuria screening.Both uMCP-1[ncbi.nlm.nih.gov] Isolated proteinuria (defined as UPCR 300 mg/g Cr in the absence of hypertension) was identified in 19/142 (13.4%) normotensive pregnancies.[ncbi.nlm.nih.gov] Abstract 28 yr female presented with (grade III) chyluria, with nephrotic range proteinuria and Ig M mesangial deposition in immunofluorescence, secondary to filariasis which[ncbi.nlm.nih.gov] INTRODUCTION: Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms'tumour suppressor gene (WT1).[ncbi.nlm.nih.gov] We detected a novel CLCN5 gene mutation, c.1396G C, that creates a G466R missense change in the ClC-5 protein.[ncbi.nlm.nih.gov] Familial cases of WT1 mutations are rare with only few cases described in the literature, whereas cases of WT1 mutations associated with isolated nephrotic proteinuria with[ncbi.nlm.nih.gov] In humans, dysfunctional megalin causes the extremely rare Donnai-Barrow/Facio-Oculo-Acustico-Renal (DB/FOAR) syndrome characterized by a characteristic and multifaceted phenotype[ncbi.nlm.nih.gov] In addition to possible focal segmental glomerular sclerosis lesions, electron microscopy showed extensive segments of variably thickened glomerular basement membrane (GBM[ncbi.nlm.nih.gov]

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  • Congenital Nephrotic Syndrome

    Occurrence of congenital NS in a multi-system syndrome is less common.[ncbi.nlm.nih.gov] Pierson syndrome AR 20 106 LMX1B Nail-patella syndrome AD 26 192 MAFB Multicentric carpotarsal osteolysis AD 13 22 MAGI2 Nephrotic syndrome 15 AR 7 24 MYH9 Sebastian syndrome, May-Hegglin[blueprintgenetics.com] These transgenic mice developed much less severe proteinuria than their nontransgenic Lamb2-deficient littermates; the level of proteinuria correlated inversely with R246Q-LAMB2[ncbi.nlm.nih.gov] Maori children had displayed a highly variable and protracted timeline to end-stage renal disease (ESRD) with median renal survival of 30 years versus 0.7 years in Caucasian[ncbi.nlm.nih.gov] We conclude that Pierson syndrome should be included in the differential diagnosis for congenital nephrotic syndrome, especially in patients with ocular abnormalities.[ncbi.nlm.nih.gov] CONCLUSION: Mutations of the LAMB2 and NPHP1 are present in infants with isolated CNS.[ncbi.nlm.nih.gov] Kidney transplantation outcomes for children with congenital nephrotic syndrome are similar to those of other patient groups. [1] [2] Nephrotic syndrome typically does not[en.wikipedia.org] After a median period of 54 months (range 36-88 months) follow-up, five patients were alive at a median age of 74 (range 43-88) months.[ncbi.nlm.nih.gov] […] of deleterious mutations in the NPHS1 gene by describing a new mutation.[ncbi.nlm.nih.gov] Genotype-phenotype correlations are not well understood in non-Finnish patients.[ncbi.nlm.nih.gov]

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  • Congenital Myasthenic Syndrome

    RESULTS: Six patients were identified with DOK7 mutations and congenital stridor, four requiring intubation soon after birth.[ncbi.nlm.nih.gov] Mutations in various genes encoding proteins expressed at the neuromuscular junction may cause CMS.[ncbi.nlm.nih.gov] […] myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2[ncbi.nlm.nih.gov] Surprisingly, the V1727F mutant also displayed increased binding to α-dystroglycan but decreased binding to a neural (z ) agrin-specific antibody.[ncbi.nlm.nih.gov] Mutations in β2-laminin result in Pierson syndrome, a rare disorder associated with malformations of the kidneys and eyes.[rarediseases.org] OBJECTIVE: To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient.[ncbi.nlm.nih.gov] […] glycosylation, Myasthenic syndrome, congenital AR 17 30 FLAD1 Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) AR 9 10 GFPT1 Myasthenic syndrome, congenital AR 9 42 LAMB2 Nephrotic[blueprintgenetics.com] Clinical manifestations vary by congenital myasthenic syndrome subtype.[ncbi.nlm.nih.gov] We performed whole exome sequencing, which revealed a homozygous missense variant in the AGRN gene c.5023G A, p.Gly1675Ser in the LG2 domain, which is predicted to be likely[ncbi.nlm.nih.gov] Signs began at birth in all, but subsequent severity ranged from independent ambulation to wheelchair use during childhood.[ncbi.nlm.nih.gov]

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  • Congenital Myasthenic Syndrome

    RESULTS: Six patients were identified with DOK7 mutations and congenital stridor, four requiring intubation soon after birth.[ncbi.nlm.nih.gov] Mutations in various genes encoding proteins expressed at the neuromuscular junction may cause CMS.[ncbi.nlm.nih.gov] […] myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2[ncbi.nlm.nih.gov] Surprisingly, the V1727F mutant also displayed increased binding to α-dystroglycan but decreased binding to a neural (z ) agrin-specific antibody.[ncbi.nlm.nih.gov] Mutations in β2-laminin result in Pierson syndrome, a rare disorder associated with malformations of the kidneys and eyes.[rarediseases.org] CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated[ncbi.nlm.nih.gov] […] glycosylation, Myasthenic syndrome, congenital AR 17 30 FLAD1 Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) AR 9 10 GFPT1 Myasthenic syndrome, congenital AR 9 42 LAMB2 Nephrotic[blueprintgenetics.com] External links [ edit ] Congenital Myasthenic Syndromes[en.wikipedia.org] We performed whole exome sequencing, which revealed a homozygous missense variant in the AGRN gene c.5023G A, p.Gly1675Ser in the LG2 domain, which is predicted to be likely[ncbi.nlm.nih.gov] Signs began at birth in all, but subsequent severity ranged from independent ambulation to wheelchair use during childhood.[ncbi.nlm.nih.gov]

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  • Trigonocephaly

    Abstract We report on 2 cousins, offspring of consanguineous matings, with multiple congenital anomalies.[ncbi.nlm.nih.gov] […] of malformation (marked, mild, incomplete) may be considered.[ncbi.nlm.nih.gov] CDC73, RAD51C, COL4A3, CTNS, PEX2, NPHS2, NPHS1, PEX7, SLC7A7, GRHPR, MPL, PEX1, PKHD1, TMEM216, WNK1, AHI1, ATXN10, NF1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2[mendelian.co] Alphabetical list of terms, Filter results by subject field, Display options Search TERMIUM Plus Filter results by subject field Alphabetical list of terms Display options[btb.termiumplus.gc.ca] In 2 patients with isolated metopic/sagittal synostosis, FGFR2 and FGFR3 mutations were studied and none were detected.[ncbi.nlm.nih.gov] We also review two very similar published cases formerly considered to have the C syndrome.[ncbi.nlm.nih.gov] The missense mutation was not found among 420 unaffected Japanese individuals. Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro.[ncbi.nlm.nih.gov] With this method, mean (SD) normal and metopic IFAs were found to be 144.8 (8.5) degrees (range, 125.3-159.7 degrees) and 117.74 (9.0) degrees (range, 92.3-136.8 degrees),[ncbi.nlm.nih.gov] In one girl an unusual FGFR1 mutation was found. Copyright 2001 S. Karger AG, Basel.[ncbi.nlm.nih.gov] The patient's phenotype is compared to that of other syndromes involving trigonocephaly.[ncbi.nlm.nih.gov]

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  • Psychomotor Retardation

    […] group of neurocutaneous disorders in which congenital alopecia is the solitary cutaneous manifestation.[ncbi.nlm.nih.gov] May- Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.[sjkdt.org] […] the common symptoms related to PGAP1 mutations including non-progressive psychomotor retardation, neonatal feeding problems, microcephaly and brain atrophy these patients displayed[ncbi.nlm.nih.gov] Author information 1 NINDS/NIH, Neurogenetics Branch, Bethesda, Maryland 20892-3705, USA. pierson@ninds.nih.gov Abstract A mega-corpus callosum (CC) is not a common manifestation[ncbi.nlm.nih.gov] Abstract Six children in an inbred isolate (a gypsy colony) were found to have a syndrome of reduplication of the big toes, supernumerary fingers on the hands, cleft lip/palate[ncbi.nlm.nih.gov] Abstract Two boys are described with congenital microcephaly, infantile spasms, psychomotor retardation and an early-onset nephrotic syndrome.[ncbi.nlm.nih.gov] Abstract A new case of Hernandez syndrome is described in a 16-year-old Brazilian girl.[ncbi.nlm.nih.gov] In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Val, Arg171 stop, and Leu397Pro were identified.[ncbi.nlm.nih.gov] Abstract Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation[ncbi.nlm.nih.gov] Here we report two novel mutations in MCT8 and discuss the clinical findings.[ncbi.nlm.nih.gov]

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  • Adrenal Insufficiency

    CONCLUSION: Congenital adrenal insufficiency with 46XY sex reversal is a rare disorder that is characterized by dysregulation of steroid hormone synthesis, leading to adrenal[ncbi.nlm.nih.gov] Myalgia and arthralgia may also be experienced.[symptoma.com] Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent.[ncbi.nlm.nih.gov] Abstract QT prolongation and Torsades de Pointes were observed in a 44-year-old woman who had adrenal insufficiency caused by isolated adrenocorticotropic hormone deficiency[ncbi.nlm.nih.gov] Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase[ncbi.nlm.nih.gov] Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome.[ncbi.nlm.nih.gov] Abstract A novel missense mutation (c.775T C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism. 2017 John Wiley & Sons A/S.[ncbi.nlm.nih.gov] Median age was 34.2 years (range; 21.3-44.6 years). Median duration of fingolimod treatment was 32 months (range; 6-52 months) at a dose of 0.5 mg/day.[ncbi.nlm.nih.gov] The X-linked form is related to mutations in the DAX1 (NROB1) gene.[ncbi.nlm.nih.gov] In particular, secondary AI results from pituitary disease that impedes the release of ACTH, while tertiary AI is caused from an impaired synthesis of corticotropin-releasing[ncbi.nlm.nih.gov]

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  • X-Linked Alport Syndrome

    Deafness and Familial Myoclonic Epilepsy Congenital Deafness, and Onychodystrophy, Autosomal Dominant Congenital Deafness, with Vitiligo and Achalasia congenital disorder[rgd.mcw.edu] MYH9-associated disorders (May-Hegglin anomaly, Epstein and Fechtner syndrome, and others) are inherited in an autosomal dominant manner and characterized by defects in different[ncbi.nlm.nih.gov] Here we report three additional DL-AS patients who also display deletions removing the 5' ends of both COL4A5 and COL4A6 genes.[ncbi.nlm.nih.gov] 1 Bilateral giant macular holes: A rare manifestation of Alport syndrome. ( 29873249 ) Raimundo M....Figueira J. 2018 2 Alport syndrome and Pierson syndrome: Diseases of the[malacards.org] A 13-year-old girl, monitored since age 1 due to micro-haematuria and non-nephrotic proteinuria.[revistanefrologia.com] […] and in Alport syndrome associated with smooth muscle tumours.[jasn.asnjournals.org] Missense mutations in the α5(IV)-positive group were more likely to be located before exon 25 compared with missense mutations in the α5(IV)-negative group.[ncbi.nlm.nih.gov] The families included 15 affected boys (median age 11 years, range 4-19 years).[ncbi.nlm.nih.gov] Abstract We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5 . Patient 1 was a 2-year-old Japanese girl.[jstage.jst.go.jp] Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood.[ncbi.nlm.nih.gov]

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  • Usher Syndrome

    We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH.[ncbi.nlm.nih.gov] Complete blindness may develop in these individuals.[symptoma.com] Long-PCR targeting was more efficient with up to 94% of USH gene regions displaying an overall coverage higher than 25 , whereas whole exome sequencing yielded a similar coverage[ncbi.nlm.nih.gov] The analysis of USH protein networks revealed molecular links of USH to other ciliopathies, including non-syndromic inner ear defects and isolated retinal dystrophies but[ncbi.nlm.nih.gov] RESULTS: In the MYO7A gene, ten missense variants were found; three patients were compound heterozygous, and two were homozygous.[ncbi.nlm.nih.gov] The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz.[ncbi.nlm.nih.gov] CONCLUSIONS: A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of USH, characterised by early-onset[ncbi.nlm.nih.gov] Because of considerable overlap between USH and milder PBD phenotypes, individuals suspected to have USH should be screened for peroxisomal dysfunction.[ncbi.nlm.nih.gov] Usher III has a progressive hearing loss with variable vestibular involvement.[ncbi.nlm.nih.gov] The hearing impairment due to USH gene defects has been shown to result from improper organisation of the hair bundle, the sound receptive structure of sensory hair cells.[ncbi.nlm.nih.gov]

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  • Nephrotic Syndrome

    (Also known as/Synonyms) Congenital Nephrotic Syndrome NOS (Disorder) Familial Nephrotic Syndrome Finnish Congenital Nephrosis What is Congenital Nephrotic Syndrome?[dovemed.com] Release of Ela along the glomerular capillary wall may induce glomerular injury and proteinuria.[ncbi.nlm.nih.gov] In addition, patients display hyperlipidemia.[pathwaymedicine.org] […] or acquired 1 : congenital nephrotic syndrome of Finnish type focal and segmental hyalinosis (FSH) neonatal glomerulonephritis diffuse mesangial sclerosis Alport syndrome Pierson[radiopaedia.org] In cases of isolated cardiac thrombi in adults, a further search for renal disease might be helpful to reveal the underlying cause.[ncbi.nlm.nih.gov] The prognosis is however dependent on the cause of the nephrotic syndrome. It is poor in infants with congenital nephrotic syndrome as they hardly survive beyond months.[symptoma.com] : SRNS (2877, range: 847- 19121 pg/mL) and SSNS (2854, range: 328-7434 pg/mL), respectively.[ncbi.nlm.nih.gov] Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue.[ncbi.nlm.nih.gov] […] inferred from mutant phenotype Allele Disease Interaction References[flybase.org] Two different 1:1 propensity score matching models using three or 10 variables were developed for each estimated glomerular filtration (eGFR) subgroup.[ncbi.nlm.nih.gov]

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