Alacrima: Causes & Reasons

Possible Causes for Alacrima

Alacrima is earliest and the most consistent sign. [epostersonline.com]

Schirmer's test revealed alacrima, and CT brain and orbit tomography showed reduced lacrimal gland tissue. [cags.org.ae]

We describe a 9-year-old girl who presents with glucocorticoid insufficiency, partial mineralocorticoid deficiency, achalasia, and alacrima. [ncbi.nlm.nih.gov]

Alacrima - Achalasia - Mental Retardation

Mendelian Rare Diseases ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR Description Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal [mendelian.co]

AAA AAA syndrome Achalasia-addisonian syndrome Achalasia-Addisonianism-Alacrima syndrome Achalasia-alacrima syndrome Alacrima-achalasia-adrenal insufficiency neurologic disorder [ghr.nlm.nih.gov]

Syndrome Al Gazali Hirschsprung Syndrome Al Gazali Khidr Prem Chandran Syndrome Al Gazali Sabrinathan Nair Syndrome Al Kaissi Syndrome Al-Gazali Syndrome Al-Raqad Syndrome Alacrima [rgd.mcw.edu]

Levy-Hollister Syndrome

Alacrima MedGen UID: 87488 •Concept ID: C0344505 • Disease or Syndrome Absence of tear secretion. [ncbi.nlm.nih.gov]

In some people, underdevelopment or absence of the tear sacs may occur resulting in an absence of tears (alacrima) and dry eyes (xerophthalmia). [rarediseases.org]

[…] the radius Hypoplasia of the ulna Partial duplication of thumb phalanx Preaxial polydactyly Radial deviation of the 3rd finger Small thenar eminence Abnormality of the eye Alacrima [ncbi.nlm.nih.gov]

Sjögren Syndrome

Non-Sjögren syndrome Primary lacrimal gland deficiencies that may impair aqueous production include the following: Idiopathic Age-related dry eye Congenital alacrima (eg, [emedicine.com]

Isolated Congenital Alacrima

alacrima [ ah-lak´rĭ-mah ] deficiency or absence of the secretion of tears. [medical-dictionary.thefreedictionary.com]

Epidemiology Frequency United States Alacrima is uncommon. International Alacrima is uncommon. [emedicine.medscape.com]

Autosomal recessive inheritance of isolated congenital alacrima was proposed in this family. [cags.org.ae]

Achalasia - Microcephaly Syndrome

Both patients had proven alacrima, which impressed the parents as high pain threshold and tolerability. [jfcmonline.com]

Keywords: Alacrima, autonomic, achalasia, neuropathy How to cite this article: Sanyal D, Bhattacharjee S. [annalsofian.org]

Achalasia and alacrima are valuable non-neurological clues to the diagnosis. [jnnp.bmj.com]

Familial Dysautonomia

Allgrove syndrome (or triple-A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in the majority [ncbi.nlm.nih.gov]

During the ensuing months, familial dysautonomia was suggested by recurrent pulmonary infections, dysphagia, alacrima, hyperhydrosis, emotional lability, and unexplained episodes [ncbi.nlm.nih.gov]

The 'cardinal'' criteria include alacrima, absent fungiform papillae, depressed patellar reflexes, and abnormal histamine test. [orpha.net]

Congenital Isolated ACTH Deficiency

The syndrome of the achalasia of the esophagus, ACTH insensitivity and alacrima. Pediatr Radiol 1986;16:328-329. 9. [hon.ch]

Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity. [emedicine.medscape.com]

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child. 1993 Jun. 68(6):779-82. [Medline]. [emedicine.medscape.com]

Idiopathic Achalasia

[…] adrenal insufficiency with neurological impairment) have mutations of the alacrima achalasia adrenal insufficiency syndrome (AAAS) gene. [ncbi.nlm.nih.gov]

Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients. J Neurogastroenterol Motil 2011;17:169–173. 66. [synapse.koreamed.org]

Allgrove syndrome (AAA syndrome) comprised hypoadrenalism, alacrima and achalasia. [karger.com]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

Acrodysostosis, with or without hormone resistance Acromelic frontonasal dysostosis Acromesomelic dysplasia, Maroteaux type ADULT syndrome, split hand-foot malformation Alacrima [qlinics.com]

[…] dysostosis ZSWIM6 Acromesomelic dysplasia, Maroteaux type NPR2 Acromicric dysplasia FBN1 Adams-Oliver syndrome type 6 DLL4 ADULT syndrome, split hand-foot malformation TP63 Alacrima [centogene.com]

X-linked spinal muscular atrophy Intellectual disability, Birk-Barel type Intellectual disability, Buenos-Aires type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia [se-atlas.de]

Mesomelic Dysplasia Type Savarirayan

MalaCards based summary : Mesomelic Dysplasia, Savarirayan Type, also known as mesomelic dysplasia with absent fibulas and triangular tibias, is related to alacrima, achalasia [malacards.org]

X-Linked Syndromic Mental Retardation Type 17

Back to: « Alacrima Symptoms of Alacrima, achalasia, and mental retardation syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the abdomen [familydiagnosis.com]

We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild autonomic dysfunction [ncbi.nlm.nih.gov]

El-Rayyes K, Hegab S, Besisso M (1991) A syndrome of alacrima, achalasia and neurological anomalies without adrenocortical insufficiency. [link.springer.com]

Familial Visceral Neuropathy Type 3

Diagnostic methods Diagnosis is based upon clinical recognition of both sensory and autonomic dysfunction as well as alacrima, absent fungiform papillae, and abnormal histamine [orpha.net]

Spastic Ataxia - Corneal Dystrophy

[…] capillary dysplasia with misalignment of pulmonary veins Aceruloplasminemia ACH, see Achondroplasia Achalasia-addisonian syndrome, see Triple A syndrome Achalasia-Addisonianism-Alacrima [ghr.nlm.nih.gov]

[…] syndrome, see Triple A syndrome Achalasia-alacrima syndrome, see Triple A syndrome Achondrogenesis achondrogenesis syndrome, see Achondrogenesis achondrogenesis type II/hypochondrogenesis [ghr.nlm.nih.gov]

[…] insensitivity syndrome AIS, see Adolescent idiopathic scoliosis AKU, see Alkaptonuria Al-Aqeel Sewairi syndrome, see Multicentric osteolysis, nodulosis, and arthropathy Alacrima-achalasia-adrenal [ghr.nlm.nih.gov]

Adrenocortical Insufficiency

Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. [ncbi.nlm.nih.gov]

The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. [ncbi.nlm.nih.gov]

[…] describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima [ncbi.nlm.nih.gov]

Familial Glucocorticoid Deficiency

[…] glucocorticoid deficiency is a rare multisystem disorder characterized by glucocorticoid deficiency with normal mineralocorticoid activity, achalasia of the cardia, and alacrima [ncbi.nlm.nih.gov]

AS or AAA syndrome is associated with alacrima and achalasia. [emedicine.medscape.com]

(FGD2) MRAP [HSA: 56246 ] [KO: K22398 ] (FGD4) NNT [HSA: 23530 ] [KO: K00323 ] (FGD5) TXNRD2 [HSA: 10587 ] [KO: K22182 ] Comment See also H00257 Achalasia-Addisonianism-Alacrima [genome.jp]

Schinzel-Giedion Syndrome

[…] distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, low-set ears, and an inability to secrete tears (alacrima [encyclopedia.pub]

[…] distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, ear malformations, an inability to secrete tears (alacrima [ghr.nlm.nih.gov]

(November 2021) Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima.[5] Sleep apnea may also be present, Prognosis[edit] Most children with [en.wikipedia.org]

Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold

Vries Syndrome, also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, is related to patent ductus arteriosus 1 and alacrima [malacards.org]

Congenital Disorder of Glycosylation

618885 Tags for-review Amber Amber List (moderate evidence) GMPPA 2 reviews 2 green BIALLELIC, autosomal or pseudoautosomal Sources Expert list Expert Review Amber Phenotypes Alacrima [panelapp.genomicsengland.co.uk]

[…] hypotonia, ataxia, dysmetria, dysarthria, peripheral neuropathy, cerebral and cerebellar atrophy, myasthenia Strabismus, nystagmus, optic hypoplasia, retinal pigmentary changes, alacrima [ncbi.nlm.nih.gov]

Congenital Disorder of Glycosylation Type 1G

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ig, also known as alg12-congenital disorder of glycosylation, is related to alacrima, achalasia, and mental [malacards.org]

[…] reversal, partial or complete Adrenocorticotropic hormone deficiency Afibrinogenemia congenital Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 2 Al Kaissi syndrome Alacrima [zerlaboratories.com]

Singh-Chhaparwal-Dhanda Syndrome

ADRENAL GLAND DISEASES ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME Adrenal Cortex Diseases Adrenal Cortex Neoplasms Adrenocortical Adenoma Adrenocortical Carcinoma GLUCOCORTICOID [sites.google.com]

Aprosencephaly and Cerebellar Dysgenesis

Achalasia, and Mental Retardation Syndrome; AAMR OMIM:103420 Alacrima, Congenital, Autosomal Dominant OMIM:601549 Alacrima, Congenital, Autosomal Recessive OMIM:118450 Alagille [informatics.jax.org]

[…] capillary dysplasia with misalignment of pulmonary veins aceruloplasminemia ACH, see achondroplasia Achalasia-addisonian syndrome, see triple A syndrome Achalasia-Addisonianism-Alacrima [mygenomics.com]

Acetylation, Slow OMIM:614055 Acetyl-Coa Acetyltransferase-2 Deficiency; ACAT2D OMIM:613933 Acetyl-Coa Carboxylase Deficiency; ACACAD OMIM:231550 Achalasia-Addisonianism-Alacrima [informatics.jax.org]

Blepharophimosis

Review of the pubmed literature, reveals this is the first reported case of alacrima and BPES. [ncbi.nlm.nih.gov]

To the authors' knowledge, this represents the second reported case of congenital alacrima in this syndrome. [ncbi.nlm.nih.gov]

Alacrima is a feature in many cases, caused by hypoplasia or aplasia of the major lacrimal gland. [disorders.eyes.arizona.edu]

Collins-Sakati-Nyhan Syndrome

[…] therapy List of genetic disorder: 1p36 deletion syndrome 18p deletion syndrome 21-hydroxylase deficiency Alpha 1-antitrypsin deficiency AAA syndrome (achalasia-addisonianism-alacrima [humangeneticsjournal.com]

[…] chr1 1q31 Glutamine deficiency congenital 610015 GLYCTK chr3 3p21 D-glyceric aciduria 220120 GM2A chr5 5q31.3-q33.1 GM2-gangliosidosis AB variant 272750 GMPPA chr2 2q35 Alacrima [institutobernabeu.com]

Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

[…] disease GLB1 GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) GLDC Glycine encephalopathy GLUD1 Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia GMPPA Alacrima [genda.com.ar]

WDR45, WFS1, YARS2 Disorders: 2,4-Dienoyl-CoA Reductase Deficiency (DECRD) 3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH) 3-Methylglutaconic Aciduria Type VII (MGCA7) Alacrima [nextgenerationsequencing.info]

[…] dominant GLUL 1q25.3 Glutamine deficiency, congenital 610015 138290 Autosomal recessive GM2A 5q33.1 GM2-gangliosidosis, AB variant 272750 613109 Autosomal recessive GMPPA 2q35 Alacrima [mnglabs.com]

Arnold Stickler Bourne Syndrome

Alacrima Syndrome A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). [mt911.com]

Congenital Disorder of Glycosylation Type 1A

N-glycosylation) 610542 Tags Green Green List (high evidence) GMPPA 2 reviews 2 green BIALLELIC, autosomal or pseudoautosomal Sources Expert list Expert Review Green Phenotypes Alacrima [panelapp.genomicsengland.co.uk]

Dominant Pericentral Pigmentary Retinopathy

Floriform Cataract, Pulverulent Cavitary Optic Disc Anomalies Cholestasis with Gallstone, Ataxia, and Visual Disturbance Choroideremia + cone-rod dystrophy + Congenital Alacrima [rgd.mcw.edu]

[…] achromatopsia 4 Achromatopsia 5 Acrootoocular Syndrome Aicardi syndrome Alacrima + Albinism + angioid streaks of choroid aniridia + ataxia with oculomotor apraxia type 3 Ataxia-Microcephaly-Cataract [rgd.mcw.edu]

Muscular Dystrophy-Dystroglycanopathy Type A11

Syndrome Microphthalmia OMIM:601707 Marden-Walker Syndrome Microphthalmia OMIM:248700 Refractory Celiac Disease Weight loss, Inflammatory abnormality of the skin ORPHA:398063 Alacrima [mousephenotype.org]

Amelogenesis Imperfecta Type 2A5

Respiratory insufficiency Dehydration Hypospadias Tics Aplasia of the parotid gland Short palm Lacrimal gland hypoplasia Absent lacrimal punctum Dacryocystitis Retrognathia Alacrima [mendelian.co]

[…] gangliosidosis type I, GM1-gangliosidosis type II, GM1-gangliosidosis type III, Mucopolysaccharidosis type IVB (Morquio), GLMN % 99% Glomuvenous malformations, GMPPA % 100% Alacrima [docplayer.net]

Aicardi-Goutieres syndrome 4,610333 SAMHD1 Aicardi-Goutieres syndrome 5,612952 ADAR Aicardi-Goutieres syndrome 6,615010 ATIC AICA-ribosiduria due to ATIC deficiency,608688 GMPPA Alacrima [gsdseq.ir]