ALSG
MCID: APL002
MIFTS: 55

Aplasia of Lacrimal and Salivary Glands (ALSG)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Aplasia of Lacrimal and Salivary Glands

MalaCards integrated aliases for Aplasia of Lacrimal and Salivary Glands:

Name: Aplasia of Lacrimal and Salivary Glands 57 12 58 72 36 13 6 44 15 39
Alsg 57 12 58 72
Xerostomia 44 17 70
Congenital Absence of Lacrimal Puncta and Salivary Glands 12 58
Parotid Aplasia or Hypoplasia 72
Absence of Salivary Glands 72

Characteristics:

Orphanet epidemiological data:

58
aplasia of lacrimal and salivary glands
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
aplasia of lacrimal and salivary glands:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111549
OMIM® 57 180920
KEGG 36 H00677
ICD9CM 34 750.21
SNOMED-CT 67 715656004
ICD10 via Orphanet 33 Q10.4 Q38.4
UMLS via Orphanet 71 C0158667
Orphanet 58 ORPHA86815
UMLS 70 C0043352 C0158667

Summaries for Aplasia of Lacrimal and Salivary Glands

OMIM® : 57 Autosomal dominant aplasia of lacrimal and salivary glands is a rare condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome (270150), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia. Both sporadic and familial cases of ALSG have been described (summary by Entesarian et al., 2005). (180920) (Updated 20-May-2021)

MalaCards based summary : Aplasia of Lacrimal and Salivary Glands, also known as alsg, is related to sjogren syndrome and xerophthalmia, and has symptoms including snoring, halitosis and signs and symptoms. An important gene associated with Aplasia of Lacrimal and Salivary Glands is FGF10 (Fibroblast Growth Factor 10), and among its related pathways/superpathways are MAPK signaling pathway and Developmental Biology. The drugs Pilocarpine and Allantoin have been mentioned in the context of this disorder. Affiliated tissues include eye, salivary gland and tongue, and related phenotypes are carious teeth and xerostomia

Disease Ontology : 12 A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has material basis in heterozygous mutation in FGF10 on chromosome 5p12.

KEGG : 36 Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable eyes and dryness of the mouth. Mutations in FGF10 were recently described in ALSG.

UniProtKB/Swiss-Prot : 72 Aplasia of lacrimal and salivary glands: A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta.

Related Diseases for Aplasia of Lacrimal and Salivary Glands

Diseases related to Aplasia of Lacrimal and Salivary Glands via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 sjogren syndrome 31.8 SPTAN1 HSPG2 CHRM3 AQP5
2 xerophthalmia 30.6 SPTAN1 AQP5
3 sialadenitis 30.5 SPTAN1 AQP5
4 dacryoadenitis 30.0 SPTAN1 AQP5
5 keratoconjunctivitis sicca 29.9 SPTAN1 HSPG2 AQP5
6 lacrimoauriculodentodigital syndrome 29.2 FGFR2 FGF7 FGF3 FGF17 FGF10
7 helix syndrome 11.4
8 burning mouth syndrome 11.0
9 type 1 diabetes mellitus 10.9
10 glossodynia 10.9
11 hairy tongue 10.9
12 nasopharyngeal carcinoma 10.5
13 dysphagia 10.5
14 mucositis 10.3
15 candidiasis 10.3
16 oropharynx cancer 10.3
17 dental caries 10.2
18 periodontitis 10.2
19 autoimmune disease 10.2
20 graft-versus-host disease 10.2
21 oral candidiasis 10.2
22 down syndrome 10.2
23 salivary gland disease 10.2
24 squamous cell carcinoma 10.2
25 thyroid carcinoma 10.2
26 dacryocystocele 10.1 FGFR2 FGF10
27 chronic inflammation of lacrimal passage 10.1 FGFR2 FGF10
28 gingivitis 10.1
29 lichen planus 10.1
30 stomatitis 10.1
31 chronic graft versus host disease 10.1
32 muenke syndrome 10.1 FGFR2 FGF10
33 connective tissue disease 10.1
34 oral cancer 10.1
35 oral lichen planus 10.1
36 lacrimal apparatus disease 10.1 SPTAN1 AQP5
37 cheilitis 10.0
38 rhinitis 10.0
39 chromosomal triplication 10.0
40 bronchopulmonary dysplasia 10.0 FGF7 FGF10
41 rheumatoid arthritis 10.0
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
43 angular cheilitis 10.0
44 glossitis 10.0
45 hypothyroidism 10.0
46 hepatitis c 10.0
47 sleep disorder 10.0
48 fibromyalgia 10.0
49 thyroiditis 10.0
50 differentiated thyroid carcinoma 10.0

Graphical network of the top 20 diseases related to Aplasia of Lacrimal and Salivary Glands:



Diseases related to Aplasia of Lacrimal and Salivary Glands

Symptoms & Phenotypes for Aplasia of Lacrimal and Salivary Glands

Human phenotypes related to Aplasia of Lacrimal and Salivary Glands:

31
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 HP:0000670
2 xerostomia 31 HP:0000217
3 absent lacrimal punctum 31 HP:0001092
4 lacrimal gland hypoplasia 31 HP:0007732
5 lacrimal gland aplasia 31 HP:0007656

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
xerostomia
salivary gland aplasia/hypoplasia
absent parotid papillae

Head And Neck Eyes:
dry conjunctival mucosae
lacrimal gland aplasia/hypoplasia
absent lacrimal gland puncta

Respiratory Lung:
reduced forced expiratory volume in 1 second (fev1)
reduced fev1/inspiratory vital capacity (ivc) ratio

Head And Neck Teeth:
dental caries

Respiratory Airways:
nonreversible airway obstruction

Clinical features from OMIM®:

180920 (Updated 20-May-2021)

UMLS symptoms related to Aplasia of Lacrimal and Salivary Glands:


snoring; halitosis; signs and symptoms; signs and symptoms, digestive; symptoms; dry throat

MGI Mouse Phenotypes related to Aplasia of Lacrimal and Salivary Glands:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 AQP5 FGF10 FGF3 FGFR2 HSPG2
2 respiratory system MP:0005388 9.43 AQP5 CHRM3 FGF10 FGFR2 HSPG2 LPO
3 vision/eye MP:0005391 9.23 AQP5 CHRM3 FGF10 FGF3 FGF7 FGFR2

Drugs & Therapeutics for Aplasia of Lacrimal and Salivary Glands

Drugs for Aplasia of Lacrimal and Salivary Glands (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 135)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pilocarpine Approved, Investigational Phase 4 92-13-7, 54-71-7 5910
2
Allantoin Approved Phase 4 97-59-6 204
3
Cevimeline Approved Phase 4 107233-08-9 83898 25137844
4
Betaine Approved, Nutraceutical Phase 4 107-43-7, 6915-17-9 248
5
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
6 Neurotransmitter Agents Phase 4
7 Pharmaceutical Solutions Phase 4
8 Cholinergic Agents Phase 4
9 Muscarinic Agonists Phase 4
10 Aloe Phase 4
11
Amifostine Approved, Investigational Phase 3 20537-88-6 2141
12 Coconut Approved Phase 3
13
Peppermint Approved Phase 3
14 Radiation-Protective Agents Phase 3
15 Antidepressive Agents Phase 2, Phase 3
16 Antihypertensive Agents Phase 2, Phase 3
17 Gastrointestinal Agents Phase 2, Phase 3
18 Carboxymethylcellulose Sodium Phase 2, Phase 3
19 Cathartics Phase 2, Phase 3
20 Laxatives Phase 2, Phase 3
21
Rebamipide Approved, Investigational Phase 2 90098-04-7
22
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
23
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
24
rituximab Approved Phase 2 174722-31-7 10201696
25
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
26
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
27
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
28
Fluorouracil Approved Phase 2 51-21-8 3385
29
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
30
Lenograstim Approved, Investigational Phase 2 135968-09-1
31
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
32
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
33
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
34
Melatonin Approved, Nutraceutical, Vet_approved Phase 2 73-31-4 896
35
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2 53-43-0 5881
36 Fluorides Phase 2
37 Tea Phase 1, Phase 2
38 Albumin-Bound Paclitaxel Phase 2
39 Anesthetics Phase 2
40 Analgesics Phase 2
41 (S)-2-ethyl-8-methyl-1-thia-4,8-diazaspiro(4.5)decan-3-one Phase 2
42 Antirheumatic Agents Phase 2
43 Pulmonary Surfactants Phase 2
44 Fluorides, Topical Phase 2
45 DHEA (Dehydroepiandrosterone) Phase 2
46 Androgens Phase 2
47 Antineoplastic Agents, Immunological Phase 2
48 Angiogenesis Inhibitors Phase 2
49 Anti-Bacterial Agents Phase 2
50 Anticoagulants Phase 2

Interventional clinical trials:

(show top 50) (show all 168)
# Name Status NCT ID Phase Drugs
1 Effect of Pilocarpine in Patients With Xerostomia Unknown status NCT02982577 Phase 4 Pilocarpine
2 Quality of Life in a Portuguese Population With Primary Sjögren Syndrome Completed NCT03578900 Phase 4 Xeros;Citric Acid based Mouthwash
3 Safety and Performance Evaluation of an Electro-stimulator Mounted on an Intra-oral Removable Appliance (Saliwell GenNarino) for the Treatment of Xerostomia Completed NCT00509808 Phase 4
4 Clinical Evaluation of a Salivary Substitute and a Mucoprotective Product on Xerostomia in Head-and-neck Cancer Patients Completed NCT01316393 Phase 4
5 PMS Clinical Study of Korean Red Ginseng Powder on Dry Mouth and Salivary Flow Rates in Xerostomatic Populations Completed NCT00911768 Phase 4
6 An Investigator-Initiated,Multicenter,Randomized,Double-Blind Placebo-Controlled Design Study to Assess the Effectiveness of CeviMeline to Improve OraL Health in Patients With XErostomia Secondary to Radiation Therapy for Treatment of Head and Neck Squamous Cell Carcinoma Completed NCT00466388 Phase 4 Cevimeline
7 Phase 4 Study Evaluating Efficacy, Safety and Acceptability of Treatment With a New Salivary Equivalent Compared to Two Moisturizing Mouth Sprays on the Improvement of Dry Mouth Symptoms and Oral Comfort in Patients With Xerostomia. Completed NCT02049112 Phase 4
8 Xerostomy Treatment in Patients With Sjogren's Syndrome in Chile :A Double Blind Control Trial Comparing Orally Pilocarpine Drops and Artificial Saliva Completed NCT00438048 Phase 4 Artificial Saliva
9 Use of Biotene Moisturizing Mouth Spray for Xerostomia Associated With Oral Oxybutynin Use Withdrawn NCT02522936 Phase 4 Biotene oral spray
10 A Multicentre Randomised Study Of Parotid Sparing Intensity Modulated Radiotherapy Versus Conventional Radiotherapy In Patients With Head And Neck Cancer Unknown status NCT00081029 Phase 3
11 Difference in Salivary Flow in Patients With Salivary Gland Hypofunction of the Following Application of Neuro-electrostimulation Unknown status NCT01174329 Phase 2, Phase 3
12 A Phase II/III Study Comparing Acupuncture-like Transcutaneous Electrical Nerve Stimulation (ALTENS) Versus Pilocarpine in Treating Early Radiation-Induced Xerostomia Completed NCT00656513 Phase 2, Phase 3 Pilocarpine
13 A Phase III Randomized Trial Comparing Oral Pilocarpine (Salagen) Versus Submandibular Salivary Gland Transfer Protocol, For the Prevention of Radiation (XRT) Induced Xerostomia in Head and Neck Cancer Patients Completed NCT00168181 Phase 3 Salagen
14 Effectiveness of Malic Acid 1% in Patients With Xerostomia Induced by Drugs. Determination of Salivary Mucins and Buffering Capacity Completed NCT01652001 Phase 2, Phase 3 Malic Acid
15 Long-term Evaluation of the Effectiveness Of a Novel Intra-oral Electro-stimulator for the Treatment of raDiotherapy-ASsociated Dry Mouth Completed NCT02941276 Phase 3
16 A Randomized Phase III Study Comparing Intravenous Versus Subcutaneous Administration of Amifostine in Prevention of Xerostomia for Patients Receiving Radiotherapy for Head and Neck Carcinomas Completed NCT00158691 Phase 3 Ethyol
17 A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of Cevimeline in the Treatment of Xerostomia Secondary to Radiation Therapy for Cancer in the Head and Neck Region Completed NCT00017511 Phase 3 cevimeline hydrochloride
18 Phase III Trial Testing the Benefit of Intensity-modulated Radiotherapy With Weekly Replanifications Versus Intensity Modulated Radiotherapy With Only One Planification in Locally Advanced Oropharynx Carcinoma for Decreasing Xerostomia Active, not recruiting NCT01874587 Phase 3
19 Controlled Trial Of Acupuncture To Prevent Radiation-Induced Xerostomia Active, not recruiting NCT01266044 Phase 3
20 the Effect of Mixture of Natural Products As Salivary Substitute In Comparison To Carboxy Methyl Cellulose In Treatment Of Xerostomia In Patients With Sjogren's Syndrome: Cross Over Randomized Clinical Trial Not yet recruiting NCT04252209 Phase 3
21 Vergleichende, Randomisierte, Kontrollierte Und Doppelblinde In-situ-Studie Zur Wirkung Von Speichelersatzmitteln Auf Schmelz Und Dentin Terminated NCT01165970 Phase 2, Phase 3 Glandosane
22 Phase 2 Study of Hypnosis for Treating Xerostomia Following Radiotherapy in Head & Neck Cancer Patients Unknown status NCT00408759 Phase 2
23 Evaluation of Photobiomodulation in Salivary Production of Patients With Xerostomy Induced by Anti-hypertensive Drugs Unknown status NCT03632096 Phase 2
24 To Evaluate the Effects of Transfer of Submandibular Salivary Gland to the Submental Region (Outside the Radiation Field) on Xerostomia in Head and Neck Cancer Patients Receiving Radiation as the Primary Treatment Versus Patients Who Will Not Have Such a Procedure Completed NCT00168116 Phase 2
25 Phase II, Randomized Study of Concomitant Chemoradiation Using Weekly Carboplatinum/Paclitaxel With (Arm A) or Without (Arm B) Daily Subcutaneous Amifostine in Patients With Newly Diagnosed Locally Advanced Squamous Cell Cancer of the Head and Neck Completed NCT00095927 Phase 2 Amifostine;Carboplatin;Paclitaxel
26 A Phase II Study Of Submandibular Salivary Gland Transfer To The Submental Space Prior To Start Of Radiation Treatment For Prevention Of Radiation-Induced Xerostomia In Head And Neck Cancer Patients Completed NCT00068237 Phase 2
27 Mesenchymal Stem Cells for Radiation-induced Xerostomia (MESRIX) in Previous HPV-positive Oropharyngeal Head and Neck Cancer Patients - A Safety and Feasibility Study Completed NCT02513238 Phase 2 Mesenchymal stem cell;Isotonic NaCl
28 Comparison Study of BioXtra Spray and Mouth Rinse in Patient With Radiation-induced Xerostomia Completed NCT01195233 Phase 2 bioxtra
29 An Evaluation of the Impact of a Single Dose of P-552 on Oral Mucosal Wetness in Subjects With Xerostomia Related to Sjogren's Syndrome Completed NCT01369589 Phase 1, Phase 2 P-552;Placebo
30 Randomised, Double-blind, Placebo-controlled Phase II Proof-of-concept Study of APD515 Solution for Oromucosal and Oral Administration for Relief of Xerostomia in Patients With Cancer Completed NCT01331746 Phase 2 APD515;Placebo
31 Efficacy of Traditional Persian Medicine Preparation Versus Artificial Saliva for Radiation Induced Xerostomia Completed NCT02854358 Phase 2 mixed powder of A. digitata and M. sylvestris;Hypozalix spray (artificial saliva)
32 A Double-Blind, Placebo-Controlled, Cross Over Study Using a Latin Square Design to Evaluate the Safety, Tolerability, and Efficacy of NGX267 Oral Capsules in Patients With Xerostomia Associated With Sjogren's Syndrome Completed NCT00637793 Phase 2 NGX267;NGX267;NGX267;NGX267
33 A Natural Formulation for Patients Diagnosed With Xerostomia Completed NCT01647737 Phase 1, Phase 2
34 Effects of Photobiomodulation Therapy in Salivary Analysis of Chronic Renal Failure Patients Undergoing Hemodialysis: a Randomized Placebo-controlled Trial Completed NCT03647813 Phase 2
35 An Exploratory Study of Rebamipide to Evaluate Efficacy and Safety in the Treatment of Dry Mouth in Patients With Sjögren's Syndrome Completed NCT00233363 Phase 2 Rebamipide
36 A Randomized Control Trial for the Effect of Honey on Radiotherapy Induced Xerostomia and Oral Mucositis in Patients With Head and Neck Cancers Completed NCT01465308 Phase 2
37 Topical and Oral Melatonin for Preventing Concurrent Radiochemotherapy Induced Oral Mucositis and Xerostomia in Head and Neck Cancer Patients Completed NCT02430298 Phase 2 Melatonin;Matched Placebo
38 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Arm Study of 552-02 in Subjects With Dry Mouth Associated With Sjogren's Syndrome Completed NCT00852839 Phase 2 Placebo;552-02
39 Effect of Fluoride Varnish and CPP-ACP Paste on Oral and Salivary Symptoms of Patients Under Chemotherapy: A Double-blind Clinical Trial Completed NCT01737307 Phase 2 Fluoride varnish;CPP-ACP
40 Dehydroepiandrosterone (DHEA) Treatment for Sjogren's Syndrome Completed NCT00001598 Phase 2 Dehydroepiandrosterone
41 Phase 1 Study of B-cell Depletion With Rituximab on Oral, Ocular and General Disease Manifestations in Patients With Primary Sjögren's Syndrome Completed NCT00426543 Phase 2 MabThera (rituximab);Rituximab, Mabthera
42 Pilot Study of Thalidomide for Sjogren's Syndrome Completed NCT00001599 Phase 2 Thalidomide
43 A Single-centre, Double-blinded, Randomised, Placebo-controlled, Phase II Study to Investigate the Safety and Efficacy of Mesenchymal Stem Cell for Radiation-induced Hyposalivation and Xerostomia in Previous Head and Neck Cancer Patients (MESRIX-III) Recruiting NCT04776538 Phase 2
44 Follow-up Study of Safety and Efficacy in Subjects Who Participated in the Study of Intraglandular Mesenchymal Stem Cells in Patients With Radiation-induced Hyposalivation and Xerostomia (MESRIX) Enrolling by invitation NCT03876197 Phase 1, Phase 2
45 Phase II Clinical Trial to Evaluate the Effect and Safety of MSV * in Xerostomia * Adult Autologous Bone Marrow Mesenchymal Stem Cells, Expanded Under GMP of IBGM Not yet recruiting NCT03743155 Phase 2
46 Randomized Phase II Trial of Hyperbaric Oxygen for the Treatment of Radiation-induced Xerostomia Terminated NCT00682747 Phase 2 Hyperbaric oxygen
47 Randomized Pilot Trial of Chemoradiation Plus or Minus Amifostine to Assess Potential Nutritional, Inflammatory and Physical Outcomes Related to Xerostomia, Mucositis and Dysphagia Terminated NCT00503776 Phase 2 amifostine trihydrate
48 Phase II Pilot Study of TPF (Docetaxel, Cisplatin, and 5-FU) Induction Chemotherapy Followed by Concurrent Cisplatin and Reduced Dose Radiation in Locally Advanced Head and Neck Cancer Terminated NCT00352118 Phase 2 cisplatin;docetaxel;fluorouracil
49 Impact of Tomotherapy on Xerostomia and Quality of Life of Patients With Cancer of the Upper Aero-digestive Tract Terminated NCT01548846 Phase 2
50 A Randomized Within-Subject, Double-Blind, Placebo-Controlled Study of Dexamethasone Irrigation of the Parotid Glands in Primary Sjögren's Syndrome Subjects Terminated NCT01316770 Phase 2 Dexamethasone Parotid Irrigation;Placebo Parotid Irrigation

Search NIH Clinical Center for Aplasia of Lacrimal and Salivary Glands

Inferred drug relations via UMLS 70 / NDF-RT 51 :


CARBOXYMETHYLCELLULOSE CALCIUM
cevimeline
Dihydroergotamine
Pilocarpine
Pilocarpine Hydrochloride
Pilocarpine Nitrate

Cochrane evidence based reviews: xerostomia

Genetic Tests for Aplasia of Lacrimal and Salivary Glands

Anatomical Context for Aplasia of Lacrimal and Salivary Glands

MalaCards organs/tissues related to Aplasia of Lacrimal and Salivary Glands:

40
Eye, Salivary Gland, Tongue, Thyroid, Myeloid, Lung, Bone Marrow

Publications for Aplasia of Lacrimal and Salivary Glands

Articles related to Aplasia of Lacrimal and Salivary Glands:

(show top 50) (show all 60)
# Title Authors PMID Year
1
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). 61 57 6
17213838 2007
2
LADD syndrome is caused by FGF10 mutations. 61 6 57
16630169 2006
3
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. 57 6 61
15654336 2005
4
Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease. 57
21742743 2011
5
Congenital absence of lacrimal puncta and salivary glands: report of a Brazilian family and review. 57
10982479 2000
6
Agenesis or hypoplasia of major salivary and lacrimal glands. 57
1785650 1991
7
Agenesis or hypoplasia of major salivary and lacrimal glands. 57
2260568 1990
8
Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review. 57
3595044 1987
9
Familial parotid gland aplasia. 57
3858468 1985
10
Salivary gland imaging and radionuclide dacryocystography in agenesis of salivary glands. 57
6297441 1983
11
Congenital absence of the lacrimal puncta associated with alacrima and aptyalism. 57
7356788 1980
12
[Parotid and submandibular gland aplasia with atresia of the lacrimal canaliculi]. 57
275052 1978
13
Congenital absence of major salivary glands. 57
265713 1977
14
Treatment of mantle cell lymphoma in Asia: a consensus paper from the Asian Lymphoma Study Group. 61
32183871 2020
15
Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature. 61
30697385 2018
16
Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands. 61
26955834 2017
17
Interrogation of a lacrimo-auriculo-dento-digital syndrome protein reveals novel modes of fibroblast growth factor 10 (FGF10) function. 61
27742760 2016
18
Fgf10: a paracrine-signaling molecule in development, disease, and regenerative medicine. 61
24730525 2014
19
Dacryocystorhinostomy precipitating keratoconjunctivitis sicca in aplasia of lacrimal and major salivary glands (ALSG). 61
21659912 2012
20
Validation of advanced paediatric life support formulas for weight calculation in a multiethnic population. 61
23050162 2012
21
Comparative analyses reveal distinct sets of lineage-specific genes within Arabidopsis thaliana. 61
20152032 2010
22
Histamine H1 receptor induces cytosolic calcium increase and aquaporin translocation in human salivary gland cells. 54
19443731 2009
23
Case report: aplasia of the lacrimal and major salivary glands (ALSG). 61
19376597 2009
24
Periodontal conditions of individuals with Sjögren's syndrome. 54
19254127 2009
25
Activation of alpha(2)-adrenoceptors in the lateral hypothalamus reduces pilocarpine-induced salivation in rats. 54
19041371 2009
26
[A case of lymphocytic interstitial pneumonia complicated with primary Sjögren's syndrome followed by chest CT scanning for thirteen years]. 54
19260540 2009
27
An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome. 61
19102732 2008
28
Clinical efficacy of casein derivatives: a systematic review of the literature. 54
18594077 2008
29
The efficacy of cevimeline hydrochloride in the treatment of xerostomia in Sjögren's syndrome in southern Chinese patients: a randomised double-blind, placebo-controlled crossover study. 54
17899308 2008
30
Evaluation of the clinical efficacy of a mouthwash and oral gel containing the antimicrobial proteins lactoperoxidase, lysozyme and lactoferrin in elderly patients with dry mouth--a pilot study. 54
18194332 2008
31
Effect of a muscarinic M3 receptor agonist on gastric motility. 54
17914991 2007
32
Development of Sjogren's syndrome in nonobese diabetic-derived autoimmune-prone C57BL/6.NOD-Aec1Aec2 mice is dependent on complement component-3. 54
17675493 2007
33
Antibodies against alpha-fodrin are associated with sicca syndrome in the general population. 54
17894005 2007
34
Sjögren's syndrome (SjS)-like disease of mice: the importance of B lymphocytes and autoantibodies. 54
17127420 2007
35
[The mechanisms that underlie xerostomia and the translocation of aquaporin]. 54
16755078 2006
36
Role of complement and B lymphocytes in Sjögren's syndrome-like autoimmune exocrinopathy of NOD.B10-H2b mice. 54
16221495 2006
37
FGF signalling in craniofacial development and developmental disorders. 61
16476029 2006
38
Expression of aquaporin-5 in and fluid secretion from immortalized human salivary gland ductal cells by treatment with 5-aza-2'-deoxycytidine: a possibility for improvement of xerostomia in patients with Sjögren's syndrome. 54
15640830 2005
39
Minor gland saliva flow rate and proteins in subjects with hyposalivation due to Sjogren's syndrome and radiation therapy. 54
15740707 2005
40
[Sjören's syndrome with infiltrative lung disease showing upper lung field predominance]. 54
12931669 2003
41
Drug effects on salivary glands: dry mouth. 54
12974516 2003
42
The efficacy of casein phosphoprotein-calcium phosphate complex (DC-CP) [Dentacal] as a mouth moistener in patients with severe xerostomia. 54
15332459 2003
43
A clinical trial of the anticaries efficacy of casein derivatives complexed with calcium phosphate in patients with salivary gland dysfunction. 54
11925535 2002
44
[Use of saliva substitutes in patients with xerostomia]. 54
12442709 2002
45
Clinical applications of antimicrobial host proteins lactoperoxidase, lysozyme and lactoferrin in xerostomia: efficacy and safety. 54
11936452 2002
46
An examination of the theoretical perspectives underlying the ALSG Generic Instructors Course. 61
12098464 2002
47
Effects of glycosylated recombinant human granulocyte colony-stimulating factor after high-dose cytarabine-based induction chemotherapy for adult acute myeloid leukaemia. 61
11516093 2001
48
Patterns of failure with increasing intensification of induction chemotherapy for acute myeloid leukaemia. 61
11380464 2001
49
Abnormal distribution of aquaporin-5 water channel protein in salivary glands from Sjögren's syndrome patients. 54
11232635 2001
50
Interferon-alpha upregulates gene expression of aquaporin-5 in human parotid glands. 54
10476940 1999

Variations for Aplasia of Lacrimal and Salivary Glands

ClinVar genetic disease variations for Aplasia of Lacrimal and Salivary Glands:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF10 NM_004465.2(FGF10):c.577C>T (p.Arg193Ter) SNV Pathogenic 7529 rs104893884 GRCh37: 5:44305147-44305147
GRCh38: 5:44305045-44305045
2 FGF10 NC_000005.10:g.(44304226_44304232)_(44357318_44357323)del Deletion Pathogenic 7530 GRCh37:
GRCh38: 5:44304226-44357323
3 FGF10 NM_004465.2(FGF10):c.409A>T (p.Lys137Ter) SNV Pathogenic 7533 rs104893887 GRCh37: 5:44310549-44310549
GRCh38: 5:44310447-44310447
4 FGF10 NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) SNV Pathogenic 7534 rs104893888 GRCh37: 5:44388545-44388545
GRCh38: 5:44388443-44388443
5 FGF10 NM_004465.2(FGF10):c.413G>A (p.Gly138Glu) SNV Pathogenic 7535 rs104893889 GRCh37: 5:44310545-44310545
GRCh38: 5:44310443-44310443
6 FGF10 NM_004465.2(FGF10):c.624A>G (p.Ser208=) SNV Uncertain significance 353721 rs886060653 GRCh37: 5:44305100-44305100
GRCh38: 5:44304998-44304998
7 FGF10 NM_004465.2(FGF10):c.186C>A (p.Ser62Arg) SNV Uncertain significance 353726 rs886060654 GRCh37: 5:44388599-44388599
GRCh38: 5:44388497-44388497
8 FGF10 NM_004465.2(FGF10):c.144G>A (p.Glu48=) SNV Uncertain significance 353727 rs886060655 GRCh37: 5:44388641-44388641
GRCh38: 5:44388539-44388539
9 FGF10 NM_004465.2(FGF10):c.423T>C (p.Tyr141=) SNV Uncertain significance 907812 GRCh37: 5:44310535-44310535
GRCh38: 5:44310433-44310433
10 FGF10 NM_004465.1(FGF10):c.*5A>T SNV Likely benign 369476 rs111763965 GRCh37: 5:44305092-44305092
GRCh38: 5:44304990-44304990
11 FGF10 NM_004465.2(FGF10):c.426C>T (p.Gly142=) SNV Likely benign 353724 rs149851674 GRCh37: 5:44310532-44310532
GRCh38: 5:44310430-44310430
12 FGF10 NM_004465.2(FGF10):c.620A>C (p.His207Pro) SNV Benign 288912 rs147715509 GRCh37: 5:44305104-44305104
GRCh38: 5:44305002-44305002
13 FGF10 NM_004465.2(FGF10):c.261G>A (p.Lys87=) SNV Benign 353725 rs545941601 GRCh37: 5:44388524-44388524
GRCh38: 5:44388422-44388422
14 FGF10 NM_004465.2(FGF10):c.591C>T (p.Thr197=) SNV Benign 353722 rs17234639 GRCh37: 5:44305133-44305133
GRCh38: 5:44305031-44305031
15 FGF10 NM_004465.2(FGF10):c.430-15G>C SNV Benign 353723 rs2290070 GRCh37: 5:44305309-44305309
GRCh38: 5:44305207-44305207
16 FGF10 NM_004465.2(FGF10):c.97G>A (p.Val33Ile) SNV Benign 193283 rs145373611 GRCh37: 5:44388688-44388688
GRCh38: 5:44388586-44388586
17 FGF10 NM_004465.2(FGF10):c.610A>G (p.Met204Val) SNV Benign 907811 GRCh37: 5:44305114-44305114
GRCh38: 5:44305012-44305012

Expression for Aplasia of Lacrimal and Salivary Glands

Search GEO for disease gene expression data for Aplasia of Lacrimal and Salivary Glands.

Pathways for Aplasia of Lacrimal and Salivary Glands

Pathways related to Aplasia of Lacrimal and Salivary Glands according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 SPTAN1 FGFR2 FGF7 FGF3 FGF17 FGF10
2
Show member pathways
13.18 SPTAN1 FGFR2 FGF7 FGF3 FGF17 FGF10
3
Show member pathways
13.09 FGFR2 FGF7 FGF17 FGF10 AQP5
4
Show member pathways
12.95 FGFR2 FGF7 FGF3 FGF17 FGF10
5
Show member pathways
12.9 HSPG2 FGFR2 FGF7 FGF17 FGF10
6
Show member pathways
12.81 FGFR2 FGF7 FGF3 FGF17 FGF10
7
Show member pathways
12.69 FGFR2 FGF7 FGF3 FGF17 FGF10
8 12.67 FGFR2 FGF7 FGF3 FGF17 FGF10
9 12.6 FGFR2 FGF7 FGF3 FGF17 FGF10
10
Show member pathways
12.59 FGFR2 FGF7 FGF3 FGF17 FGF10
11
Show member pathways
12.55 FGFR2 FGF7 FGF3 FGF17 FGF10
12
Show member pathways
12.54 FGFR2 FGF7 FGF17 FGF10
13
Show member pathways
12.53 FGFR2 FGF7 FGF3 FGF17 FGF10
14
Show member pathways
12.46 FGFR2 FGF7 FGF3 FGF17 FGF10
15
Show member pathways
12.36 FGFR2 FGF7 FGF3 FGF17 FGF10
16 12.3 FGFR2 FGF7 FGF3 FGF17 FGF10 CHRM3
17
Show member pathways
12.23 FGFR2 FGF7 FGF17 FGF10
18
Show member pathways
12.18 FGFR2 FGF7 FGF3 FGF17 FGF10
19
Show member pathways
12.16 FGFR2 FGF7 FGF3 FGF17 FGF10
20
Show member pathways
12.11 FGFR2 FGF7 FGF17 FGF10
21
Show member pathways
12.01 FGFR2 FGF7 FGF3 FGF17 FGF10
22 11.91 FGF7 FGF3 FGF10
23 11.81 FGFR2 FGF7 FGF3 FGF17 FGF10 CHRM3
24
Show member pathways
11.75 FGFR2 FGF7 FGF3 FGF17 FGF10
25 11.58 FGFR2 FGF7 FGF17 FGF10
26
Show member pathways
11.51 HSPG2 FGFR2 FGF7 FGF3 FGF17 FGF10
27 11.29 FGFR2 FGF7 FGF3
28 10.87 HSPG2 FGFR2 FGF7 FGF17 FGF10

GO Terms for Aplasia of Lacrimal and Salivary Glands

Cellular components related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 LPO HSPG2 FGF7 FGF3 FGF17 FGF10
2 extracellular region GO:0005576 9.23 SPTAN1 LPO HSPG2 FGFR2 FGF7 FGF3

Biological processes related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.06 HSPG2 FGF7 FGF3 FGF17 FGF10
2 positive regulation of cell proliferation GO:0008284 10 FGFR2 FGF7 FGF3 FGF17 FGF10
3 positive regulation of gene expression GO:0010628 9.97 FGF7 FGF3 FGF17 FGF10
4 cell-cell signaling GO:0007267 9.89 FGFR2 FGF3 FGF17 FGF10
5 positive regulation of protein phosphorylation GO:0001934 9.85 FGF7 FGF3 FGF17 FGF10
6 lung development GO:0030324 9.8 FGFR2 FGF7 FGF10
7 positive regulation of epithelial cell proliferation GO:0050679 9.76 FGFR2 FGF7 FGF10
8 positive regulation of protein kinase B signaling GO:0051897 9.72 FGFR2 FGF7 FGF3 FGF17 FGF10
9 positive regulation of cell division GO:0051781 9.71 FGFR2 FGF7 FGF3
10 positive regulation of Wnt signaling pathway GO:0030177 9.68 FGFR2 FGF10
11 lung alveolus development GO:0048286 9.68 FGFR2 FGF10
12 odontogenesis GO:0042476 9.68 FGFR2 AQP5
13 digestive tract development GO:0048565 9.67 FGFR2 FGF10
14 protein localization to cell surface GO:0034394 9.67 FGF7 FGF10
15 regulation of cell migration GO:0030334 9.67 FGF7 FGF3 FGF17 FGF10
16 embryonic pattern specification GO:0009880 9.66 FGFR2 FGF10
17 regulation of smoothened signaling pathway GO:0008589 9.65 FGFR2 FGF10
18 embryonic digestive tract morphogenesis GO:0048557 9.65 FGFR2 FGF10
19 positive regulation of keratinocyte proliferation GO:0010838 9.65 FGF7 FGF10
20 positive regulation of keratinocyte migration GO:0051549 9.64 FGF7 FGF10
21 limb bud formation GO:0060174 9.64 FGFR2 FGF10
22 organ growth GO:0035265 9.63 FGFR2 FGF10
23 MAPK cascade GO:0000165 9.63 SPTAN1 FGFR2 FGF7 FGF3 FGF17 FGF10
24 bud elongation involved in lung branching GO:0060449 9.62 FGFR2 FGF10
25 epidermis morphogenesis GO:0048730 9.62 FGFR2 FGF10
26 lacrimal gland development GO:0032808 9.61 FGFR2 FGF10
27 otic vesicle formation GO:0030916 9.61 FGFR2 FGF10
28 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.58 FGFR2 FGF10
29 hair follicle morphogenesis GO:0031069 9.58 FGFR2 FGF7 FGF10
30 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.57 FGFR2 FGF7
31 saliva secretion GO:0046541 9.56 CHRM3 AQP5
32 secretion by lung epithelial cell involved in lung growth GO:0061033 9.52 FGF7 FGF10
33 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.51 FGF7 FGF10
34 mesenchymal cell differentiation involved in lung development GO:0060915 9.49 FGFR2 FGF10
35 branch elongation involved in salivary gland morphogenesis GO:0060667 9.48 FGFR2 FGF10
36 mammary gland bud formation GO:0060615 9.46 FGFR2 FGF10
37 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.43 FGFR2 FGF10
38 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGFR2 FGF7 FGF10
39 fibroblast growth factor receptor signaling pathway GO:0008543 9.35 FGFR2 FGF7 FGF3 FGF17 FGF10
40 animal organ morphogenesis GO:0009887 9.1 HSPG2 FGFR2 FGF7 FGF3 FGF17 FGF10

Molecular functions related to Aplasia of Lacrimal and Salivary Glands according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.46 FGF7 FGF3 FGF17 FGF10
2 heparin binding GO:0008201 9.43 FGFR2 FGF7 FGF10
3 chemoattractant activity GO:0042056 9.32 FGF7 FGF10
4 type 2 fibroblast growth factor receptor binding GO:0005111 9.13 FGF7 FGF17 FGF10
5 fibroblast growth factor receptor binding GO:0005104 8.92 FGF7 FGF3 FGF17 FGF10

Sources for Aplasia of Lacrimal and Salivary Glands

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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