Alacrima

03/01/1995 - "Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity."
04/01/2016 - "Our aim is to inform pediatric surgeons about the existence of this rare syndrome and to highlight the need for suspicion of alacrima and ACTH insensitivity in cases of pediatric achalasia. "
04/01/2016 - "Its cardinal symptoms are achalasia, alacrima, and adrenocorticotropic hormone (ACTH) insensitivity. "
12/01/2012 - "Allgrove's syndrome is a rare autosomal-recessive disorder with only about 70 cases reported thus far and is characterized by alacrima, achalasia, and ACTH insensitivity among other clinical features. "
08/07/2006 - "The triple A or Allgrove's syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. "

02/01/2002 - "The patient was confirmed to have alacrima and isolated glucocorticoid deficiency at the age of 2 years. "
05/01/1999 - "Associations with familial glucocorticoid deficiency and alacrima (triple A syndrome) have been described in the pediatric population, but no attention has been paid to the possibility of this association in adults. "
02/01/1992 - "This paper describes the progress of two previously reported brothers with familial glucocorticoid deficiency, achalasia of the cardia, and alacrima. "
01/01/1992 - "Besides isolated glucocorticoid insufficiency, achalasia and alacrima disturbance of the lipid metabolism was also detected--being a special feature of this case. "
01/01/1987 - "Glucocorticoid insufficiency, achalasia, alacrima with autonomic motor neuropathy."

01/01/2018 - "Tear samples were collected from the patient with alacrima before and after surgical punctal occlusion of both the upper and lower puncta, and tear protein extract was fractionated using HPLC. "
09/01/2016 - "This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. "
05/01/2003 - "Allgrove's syndrome, i.e., achalasia, addisonianism, alacrima (OMIM 231550) is an autosomal recessive disorder recently associated with the AAAS gene coding for the Aladin protein. "
02/01/2015 - "The combination of alacrima and adrenal insufficiency prompted screening for Allgrove syndrome, which was confirmed by genetic analysis showing homozygous c.1331+1G>A mutation within intron 14 of the gene encoding for ALADIN protein. "
02/01/2016 - "Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein alacrima achalasia adrenal insufficiency neurologic disorder (ALADIN). "

01/01/2021 - "N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms. "
01/01/2020 - "N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological phenotypes. "
01/01/2022 - "NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures. "
02/21/2022 - "N-glycanase 1 (NGLY1) deficiency is an ultra-rare autosomal recessive disorder characterized by developmental delay, peripheral neuropathy, elevated liver transaminases, hyperkinetic movement disorder and (hypo)-alacrima. "
12/08/2022 - "N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases, alacrima, and peripheral neuropathy. "

01/01/2019 - "Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder which classically involves the triad of esophageal achalasia, alacrima, and adrenal insufficiency due to adrenocorticotropin hormone insensitivity. "
09/01/2016 - "It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. "
06/01/2005 - "Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima. "
01/01/2002 - "Allgrove syndrome (triple-A syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone-resistant adrenal insufficiency, achalasia and alacrima. "
11/01/2000 - "Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima. "

05/01/2020 - "Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. "
10/01/2014 - "Other common findings included hypolacrima or alacrima (7/8), elevated liver transaminases (6/7), microcephaly (6/8), diminished reflexes (6/8), hepatocyte cytoplasmic storage material or vacuolization (5/6), and seizures (4/8). "
01/01/2023 - "It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of transaminases, (hypo)alacrima and progressive, diffuse, length-dependent sensorimotor polyneuropathy. "
02/21/2022 - "N-glycanase 1 (NGLY1) deficiency is an ultra-rare autosomal recessive disorder characterized by developmental delay, peripheral neuropathy, elevated liver transaminases, hyperkinetic movement disorder and (hypo)-alacrima. "
12/08/2022 - "N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases, alacrima, and peripheral neuropathy. "

01/01/2020 - "We conclude that transient, prepubertal alacrima and anhidrosis are part of the phenotypic spectrum of CS associated with a novel homozygous nonsense mutation in the VPS13B gene."
10/03/2013 - "In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree. "

06/01/1993 - "We describe a 9-year-old girl who presents with glucocorticoid insufficiency, partial mineralocorticoid deficiency, achalasia, and alacrima."
08/01/1988 - "Familial glucocorticoid deficiency is a rare multisystem disorder characterized by glucocorticoid deficiency with normal mineralocorticoid activity, achalasia of the cardia, and alacrima. "

01/06/2023 - "We recently showed that mutations in GDP-mannose pyrophosphorylase A (GMPPA) can cause a syndrome characterized by alacrima, achalasia, mental retardation, and myopathic alterations (AAMR syndrome). "
10/03/2013 - "In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree. "

02/01/2015 - "Therapy is cross-disciplinary, being based upon medical treatment for adrenal insufficiency with prescription of artificial tears in the event of alacrima. "

02/01/2015 - "Therapy is cross-disciplinary, being based upon medical treatment for adrenal insufficiency with prescription of artificial tears in the event of alacrima. "
12/08/2022 - "N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases, alacrima, and peripheral neuropathy. "

12/01/2021 - "Here we reported A 18 years old male, who had postnatal recurrent conjunctivitis so alacrima was diagnosed, in the sventh years he developed achalasia signs; dysphagia and regurgitation and laparscopic surgical myotomy and fundoplication were done, when he became 16 he presented to our clinic for poor appetite, weight loss,and failure to thrive. "

12/01/2021 - "Here we reported A 18 years old male, who had postnatal recurrent conjunctivitis so alacrima was diagnosed, in the sventh years he developed achalasia signs; dysphagia and regurgitation and laparscopic surgical myotomy and fundoplication were done, when he became 16 he presented to our clinic for poor appetite, weight loss,and failure to thrive. "