MCID: APL002
MIFTS: 40

Aplasia of Lacrimal and Salivary Glands

Categories: Genetic diseases, Eye diseases, Rare diseases, Endocrine 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 59 75 37 13 40
Alsg 57 59 75
Xerostomia 44 73
Congenital Absence of Lacrimal Puncta and Salivary Glands 59
Parotid Aplasia or Hypoplasia 75
Absence of Salivary Glands 75

Characteristics:

Orphanet epidemiological data:

59
aplasia of lacrimal and salivary glands
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
aplasia of lacrimal and salivary glands:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 180920
Orphanet 59 ORPHA86815
ICD10 via Orphanet 34 Q10.4 Q38.4
UMLS via Orphanet 74 C0158667
KEGG 37 H00677
UMLS 73 C0043352

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)

MalaCards based summary : Aplasia of Lacrimal and Salivary Glands, also known as alsg, is related to sjogren syndrome and sialadenitis, and has symptoms including halitosis, signs and symptoms and signs and symptoms, digestive. 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 Aquaporin-mediated transport. Affiliated tissues include salivary gland and eye, and related phenotypes are xerostomia and carious teeth

UniProtKB/Swiss-Prot : 75 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 all 47)
# Related Disease Score Top Affiliating Genes
1 sjogren syndrome 32.8 CHRM3 HSPG2 SPTAN1
2 sialadenitis 30.6 AQP5 HSPG2
3 keratoconjunctivitis sicca 30.3 HSPG2 LTF
4 helix syndrome 11.1
5 hairy tongue 10.9
6 black hairy tongue 10.9
7 dacryoadenitis 10.5 AQP5 HSPG2
8 salivary gland disease 10.5 AQP5 HSPG2
9 diffuse pulmonary fibrosis 10.3 AQP5 TAC1
10 root caries 10.2 DSPP LTF
11 bladder disease 10.2 CHRM3 TAC1
12 meniere disease 10.1 AQP5 MIP
13 burns 10.1
14 burning mouth syndrome 10.1
15 dental pulp disease 10.1 DSPP TAC1
16 xerophthalmia 10.0
17 glossodynia 9.9
18 keratoconjunctivitis 9.9
19 autoimmune disease 9.8
20 nasopharyngeal carcinoma 9.8
21 autoimmune disease 1 9.8
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
23 diabetes mellitus 9.8
24 mucositis 9.8
25 nasopharyngitis 9.8
26 thyroiditis 9.8
27 lupus erythematosus 9.8
28 lichen planus 9.8
29 stomatitis 9.8
30 oral lichen planus 9.8
31 dry eye syndrome 9.8 AQP5 LTF
32 down syndrome 9.8
33 primary sjögren syndrome 9.7 CHRM3 HSPG2 LTF SPTAN1
34 systemic lupus erythematosus 9.7
35 rheumatoid arthritis 9.7
36 schizophrenia 9.7
37 thyroid cancer, nonmedullary, 1 9.7
38 graft-versus-host disease 9.7
39 hepatitis 9.7
40 squamous cell carcinoma 9.7
41 oral cavity cancer 9.7
42 aphthous stomatitis 9.7
43 chronic graft versus host disease 9.7
44 nasal cavity disease 9.6 HRH1 TAC1
45 nose disease 9.5 HRH1 TAC1
46 upper respiratory tract disease 9.3 HRH1 TAC1
47 dental caries 9.2 DSPP FGF10 LPO LTF

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
dry conjunctival mucosae
lacrimal gland aplasia/hypoplasia
absent lacrimal gland puncta

Head And Neck Teeth:
dental caries

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

Head And Neck Mouth:
xerostomia
salivary gland aplasia/hypoplasia
absent parotid papillae

Respiratory Airways:
nonreversible airway obstruction


Clinical features from OMIM:

180920

Human phenotypes related to Aplasia of Lacrimal and Salivary Glands:

32
# Description HPO Frequency HPO Source Accession
1 xerostomia 32 HP:0000217
2 carious teeth 32 HP:0000670
3 absent lacrimal punctum 32 HP:0001092
4 lacrimal gland aplasia 32 HP:0007656
5 lacrimal gland hypoplasia 32 HP:0007732

UMLS symptoms related to Aplasia of Lacrimal and Salivary Glands:


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 AQP5 CHRM3 FGF10 HSPG2 LPO MIP

Drugs & Therapeutics for Aplasia of Lacrimal and Salivary Glands

Search Clinical Trials , NIH Clinical Center for Aplasia of Lacrimal and Salivary Glands

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Salivary Gland, Eye

Publications for Aplasia of Lacrimal and Salivary Glands

Articles related to Aplasia of Lacrimal and Salivary Glands:

# Title Authors Year
1
Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands. ( 26955834 )
2016
2
An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome. ( 19102732 )
2008
3
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). ( 17213838 )
2007
4
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. ( 15654336 )
2005

Variations for Aplasia of Lacrimal and Salivary Glands

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

6
(show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF10 NM_004465.1(FGF10): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs104893884 GRCh37 Chromosome 5, 44305147: 44305147
2 FGF10 NM_004465.1(FGF10): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs104893884 GRCh38 Chromosome 5, 44305045: 44305045
3 FGF10 NC_000005.10 deletion Pathogenic GRCh38 Chromosome 5, 44304226: 44357323
4 FGF10 NM_004465.1(FGF10): c.409A> T (p.Lys137Ter) single nucleotide variant Pathogenic rs104893887 GRCh37 Chromosome 5, 44310549: 44310549
5 FGF10 NM_004465.1(FGF10): c.409A> T (p.Lys137Ter) single nucleotide variant Pathogenic rs104893887 GRCh38 Chromosome 5, 44310447: 44310447
6 FGF10 NM_004465.1(FGF10): c.240A> C (p.Arg80Ser) single nucleotide variant Pathogenic rs104893888 GRCh37 Chromosome 5, 44388545: 44388545
7 FGF10 NM_004465.1(FGF10): c.240A> C (p.Arg80Ser) single nucleotide variant Pathogenic rs104893888 GRCh38 Chromosome 5, 44388443: 44388443
8 FGF10 NM_004465.1(FGF10): c.413G> A (p.Gly138Glu) single nucleotide variant Pathogenic rs104893889 GRCh37 Chromosome 5, 44310545: 44310545
9 FGF10 NM_004465.1(FGF10): c.413G> A (p.Gly138Glu) single nucleotide variant Pathogenic rs104893889 GRCh38 Chromosome 5, 44310443: 44310443
10 FGF10 NM_004465.1(FGF10): c.620A> C (p.His207Pro) single nucleotide variant Likely benign rs147715509 GRCh37 Chromosome 5, 44305104: 44305104
11 FGF10 NM_004465.1(FGF10): c.620A> C (p.His207Pro) single nucleotide variant Likely benign rs147715509 GRCh38 Chromosome 5, 44305002: 44305002
12 FGF10 NM_004465.1(FGF10): c.591C> T (p.Thr197=) single nucleotide variant Benign rs17234639 GRCh37 Chromosome 5, 44305133: 44305133
13 FGF10 NM_004465.1(FGF10): c.591C> T (p.Thr197=) single nucleotide variant Benign rs17234639 GRCh38 Chromosome 5, 44305031: 44305031
14 FGF10 NM_004465.1(FGF10): c.430-15G> C single nucleotide variant Benign rs2290070 GRCh37 Chromosome 5, 44305309: 44305309
15 FGF10 NM_004465.1(FGF10): c.430-15G> C single nucleotide variant Benign rs2290070 GRCh38 Chromosome 5, 44305207: 44305207
16 FGF10 NM_004465.1(FGF10): c.426C> T (p.Gly142=) single nucleotide variant Uncertain significance rs149851674 GRCh37 Chromosome 5, 44310532: 44310532
17 FGF10 NM_004465.1(FGF10): c.426C> T (p.Gly142=) single nucleotide variant Uncertain significance rs149851674 GRCh38 Chromosome 5, 44310430: 44310430
18 FGF10 NM_004465.1(FGF10): c.186C> A (p.Ser62Arg) single nucleotide variant Uncertain significance rs886060654 GRCh37 Chromosome 5, 44388599: 44388599
19 FGF10 NM_004465.1(FGF10): c.186C> A (p.Ser62Arg) single nucleotide variant Uncertain significance rs886060654 GRCh38 Chromosome 5, 44388497: 44388497
20 FGF10 NM_004465.1(FGF10): c.261G> A (p.Lys87=) single nucleotide variant Likely benign rs545941601 GRCh37 Chromosome 5, 44388524: 44388524
21 FGF10 NM_004465.1(FGF10): c.261G> A (p.Lys87=) single nucleotide variant Likely benign rs545941601 GRCh38 Chromosome 5, 44388422: 44388422
22 FGF10 NM_004465.1(FGF10): c.144G> A (p.Glu48=) single nucleotide variant Uncertain significance rs886060655 GRCh37 Chromosome 5, 44388641: 44388641
23 FGF10 NM_004465.1(FGF10): c.144G> A (p.Glu48=) single nucleotide variant Uncertain significance rs886060655 GRCh38 Chromosome 5, 44388539: 44388539
24 FGF10 NM_004465.1(FGF10): c.624A> G (p.Ser208=) single nucleotide variant Uncertain significance rs886060653 GRCh38 Chromosome 5, 44304998: 44304998
25 FGF10 NM_004465.1(FGF10): c.624A> G (p.Ser208=) single nucleotide variant Uncertain significance rs886060653 GRCh37 Chromosome 5, 44305100: 44305100
26 FGF10 NM_004465.1(FGF10): c.*5A> T single nucleotide variant Likely benign rs111763965 GRCh37 Chromosome 5, 44305092: 44305092
27 FGF10 NM_004465.1(FGF10): c.*5A> T single nucleotide variant Likely benign rs111763965 GRCh38 Chromosome 5, 44304990: 44304990

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:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

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 CSN1S1 FGF10 HSPG2 LPO LTF TAC1
2 extracellular region GO:0005576 9.23 CSN1S1 DSPP FGF10 HSPG2 LPO LTF

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of epithelial cell migration GO:0010634 9.37 FGF10 TAC1
2 regulation of vasoconstriction GO:0019229 9.32 CHRM3 HRH1
3 water transport GO:0006833 9.26 AQP5 MIP
4 positive regulation of lymphocyte proliferation GO:0050671 9.16 FGF10 TAC1
5 adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway GO:0007197 8.96 CHRM3 HRH1
6 saliva secretion GO:0046541 8.62 AQP5 CHRM3

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.16 AQP5 MIP
2 water channel activity GO:0015250 8.96 AQP5 MIP
3 G-protein coupled acetylcholine receptor activity GO:0016907 8.62 CHRM3 HRH1

Sources for Aplasia of Lacrimal and Salivary Glands

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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