ILLD
MCID: INT271
MIFTS: 41

Interstitial Lung and Liver Disease (ILLD)

Categories: Genetic diseases, Liver diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Interstitial Lung and Liver Disease

MalaCards integrated aliases for Interstitial Lung and Liver Disease:

Name: Interstitial Lung and Liver Disease 57 58 72 36 29 6
Pulmonary Alveolar Proteinosis, Reunion Island 57 72
Infantile Liver Failure Syndrome 2 72 70
Illd 57 72
Severe Early-Onset Pulmonary Alveolar Proteinosis Due to Mars Deficiency 58
Hereditary Pulmonary Alveolar Proteinosis with Hepatic Involvement 58
Infantile Liver Failure Syndrome 2, Formerly; Ilfs2, Formerly 57
Pulmonary Alveolar Proteinosis, Reunion Island Type 58
Infantile Liver Failure Syndrome 2, Formerly 57
Lung and Liver Disease, Interstitial 39
Pap, Reunion Island Type 58
Ilfs2, Formerly 57
Ilfs2 72

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

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

Miscellaneous:
variable severity
progressive disorder
onset in infancy or early childhood
early death from respiratory failure may occur
anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient


HPO:

31
interstitial lung and liver disease:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare respiratory diseases


Summaries for Interstitial Lung and Liver Disease

KEGG : 36 Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood or adolescence as a result of lung fibrosis. In addition to lung fibrosis, non-life-threatening liver involvement might be present, as indicated by elevated enzymes, steatosis, fibrosis, or cirrhosis. The mutations in MARS associated with ILLD have been reported.

MalaCards based summary : Interstitial Lung and Liver Disease, also known as pulmonary alveolar proteinosis, reunion island, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, axonal, type 2u. An important gene associated with Interstitial Lung and Liver Disease is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Abatacept and rituximab have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and retina, and related phenotypes are cirrhosis and failure to thrive

OMIM® : 57 Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015). (615486) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Interstitial lung and liver disease: An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition.

Related Diseases for Interstitial Lung and Liver Disease

Diseases related to Interstitial Lung and Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 16, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.1 MIR6758 MARS1 ARHGAP9
2 charcot-marie-tooth disease, axonal, type 2u 29.0 MIR6758 MARS1 ARHGAP9
3 infantile liver failure syndrome 2 11.9
4 interstitial lung disease 10.3
5 liver disease 10.3
6 lung disease 10.3
7 infantile liver failure syndrome 10.2
8 neuroblastoma 10.2
9 tooth disease 10.2
10 nephrolithiasis, calcium oxalate 10.0
11 deficiency anemia 10.0
12 non-alcoholic fatty liver disease 10.0
13 cholestasis 10.0
14 hypothyroidism 10.0
15 thrombocytosis 10.0
16 nephrolithiasis 10.0

Graphical network of the top 20 diseases related to Interstitial Lung and Liver Disease:



Diseases related to Interstitial Lung and Liver Disease

Symptoms & Phenotypes for Interstitial Lung and Liver Disease

Human phenotypes related to Interstitial Lung and Liver Disease:

31 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 cirrhosis 31 occasional (7.5%) HP:0001394
2 failure to thrive 31 HP:0001508
3 hypothyroidism 31 HP:0000821
4 respiratory insufficiency 31 HP:0002093
5 hepatomegaly 31 HP:0002240
6 aminoaciduria 31 HP:0003355
7 anemia 31 HP:0001903
8 hepatic steatosis 31 HP:0001397
9 elevated hepatic transaminase 31 HP:0002910
10 dyspnea 31 HP:0002094
11 cough 31 HP:0012735
12 decreased liver function 31 HP:0001410
13 acidosis 31 HP:0001941
14 clubbing 31 HP:0001217
15 abnormal pulmonary interstitial morphology 31 HP:0006530
16 intraalveolar phospholipid accumulation 31 HP:0006517

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly
fibrosis
steatosis
liver dysfunction
cirrhosis (in some patients)

Laboratory Abnormalities:
abnormal liver enzymes
aminoaciduria (patient a)
lactic acidosis, intermittent (patient a)

Endocrine Features:
hypothyroidism (patient a)

Respiratory:
respiratory insufficiency
dyspnea
cough

Skeletal Hands:
digital clubbing

Respiratory Lung:
interstitial lung disease
lung fibrosis
lung biopsy shows pulmonary alveolar proteinosis

Hematology:
anemia (patient a)

Clinical features from OMIM®:

615486 (Updated 20-May-2021)

Drugs & Therapeutics for Interstitial Lung and Liver Disease

Drugs for Interstitial Lung and Liver Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 6, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved 332348-12-6 10237
2
rituximab Approved 174722-31-7 10201696
3 Antirheumatic Agents
4 Antineoplastic Agents, Immunological
5 Immunosuppressive Agents
6 Immunologic Factors

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Retrospective Chart Review of Children With Primary Immunodeficiencies (PID) Who Received Targeted Therapy of Interstitial Lymphocytic Lung Disease (ILLD) With Abatacept or Rituximab. Recruiting NCT04572620 Rituximab;Abatacept

Search NIH Clinical Center for Interstitial Lung and Liver Disease

Genetic Tests for Interstitial Lung and Liver Disease

Genetic tests related to Interstitial Lung and Liver Disease:

# Genetic test Affiliating Genes
1 Interstitial Lung and Liver Disease 29 MARS1

Anatomical Context for Interstitial Lung and Liver Disease

MalaCards organs/tissues related to Interstitial Lung and Liver Disease:

40
Liver, Lung, Retina, Bone

Publications for Interstitial Lung and Liver Disease

Articles related to Interstitial Lung and Liver Disease:

(showing 11, show less)
# Title Authors PMID Year
1
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. 57 6
25913036 2015
2
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. 57 6
24103465 2013
3
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
4
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. 6
28576691 2017
5
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 6
26286438 2015
6
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 6
26073778 2015
7
Symptomatic leg length discrepancy after total hip arthroplasty is associated with new onset of lower back pain. 61
33316448 2021
8
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants. 61
32833345 2020
9
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. 61
29655802 2018
10
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature. 61
30271085 2018
11
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia. 61
28148924 2017

Variations for Interstitial Lung and Liver Disease

ClinVar genetic disease variations for Interstitial Lung and Liver Disease:

6 (showing 149, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MARS1 NM_004990.4(MARS1):c.1568T>C (p.Ile523Thr) SNV Pathogenic 68464 rs201555303 GRCh37: 12:57905819-57905819
GRCh38: 12:57512036-57512036
2 MARS1 NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) SNV Pathogenic 68463 rs140467171 GRCh37: 12:57894120-57894120
GRCh38: 12:57500337-57500337
3 MARS1 NM_004990.4(MARS1):c.1031A>G (p.Tyr344Cys) SNV Pathogenic 192373 rs766466297 GRCh37: 12:57892346-57892346
GRCh38: 12:57498563-57498563
4 MARS1 NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) SNV Pathogenic 189364 rs141340466 GRCh37: 12:57894189-57894189
GRCh38: 12:57500406-57500406
5 MARS1 NM_004990.4(MARS1):c.1814A>T (p.Asp605Val) SNV Pathogenic 189365 rs756021768 GRCh37: 12:57906594-57906594
GRCh38: 12:57512811-57512811
6 NBAS NM_015909.4(NBAS):c.558_560del (p.Ile187del) Deletion Pathogenic 204580 rs796065037 GRCh37: 2:15676629-15676631
GRCh38: 2:15536505-15536507
7 NBAS NM_015909.4(NBAS):c.686dup (p.Ser230fs) Duplication Pathogenic 204581 rs759315662 GRCh37: 2:15674726-15674727
GRCh38: 2:15534602-15534603
8 NBAS NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) SNV Pathogenic 204582 rs368196005 GRCh37: 2:15557706-15557706
GRCh38: 2:15417582-15417582
9 NBAS NM_015909.4(NBAS):c.603_605del (p.Leu202del) Deletion Pathogenic 204583 rs796065038 GRCh37: 2:15676584-15676586
GRCh38: 2:15536460-15536462
10 NBAS NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) SNV Pathogenic 204584 rs796052121 GRCh37: 2:15534444-15534444
GRCh38: 2:15394320-15394320
11 NBAS NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter) SNV Pathogenic 424842 rs770446752 GRCh37: 2:15608634-15608634
GRCh38: 2:15468510-15468510
12 NBAS NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) SNV Pathogenic 617878 rs759960319 GRCh37: 2:15614289-15614289
GRCh38: 2:15474165-15474165
13 NBAS NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) SNV Pathogenic 617879 rs776597537 GRCh37: 2:15319112-15319112
GRCh38: 2:15178988-15178988
14 NBAS NM_015909.4(NBAS):c.6433-2A>G SNV Pathogenic 975151 GRCh37: 2:15330529-15330529
GRCh38: 2:15190405-15190405
15 NBAS NM_015909.4(NBAS):c.5262del (p.Phe1754fs) Deletion Pathogenic 1032709 GRCh37: 2:15417102-15417102
GRCh38: 2:15276978-15276978
16 NBAS NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) SNV Likely pathogenic 801649 rs201084909 GRCh37: 2:15415865-15415865
GRCh38: 2:15275741-15275741
17 NBAS NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) SNV Likely pathogenic 801650 rs199717686 GRCh37: 2:15415867-15415867
GRCh38: 2:15275743-15275743
18 NBAS NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter) SNV Likely pathogenic 976858 GRCh37: 2:15608642-15608642
GRCh38: 2:15468518-15468518
19 FARSB NM_005687.5(FARSB):c.767C>T (p.Thr256Met) SNV Likely pathogenic 487455 rs753710639 GRCh37: 2:223496342-223496342
GRCh38: 2:222631623-222631623
20 FARSB NM_005687.5(FARSB):c.1486delinsAA (p.His496fs) Indel Likely pathogenic 487456 rs1553549333 GRCh37: 2:223464779-223464779
GRCh38: 2:222600060-222600060
21 MARS1 NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) SNV Likely pathogenic 156025 rs587777718 GRCh37: 12:57906632-57906632
GRCh38: 12:57512849-57512849
22 NBAS NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) SNV Likely pathogenic 869407 GRCh37: 2:15557797-15557797
GRCh38: 2:15417673-15417673
23 NBAS NM_015909.4(NBAS):c.2423+404G>C SNV Likely pathogenic 869408 GRCh37: 2:15567431-15567431
GRCh38: 2:15427307-15427307
24 NBAS NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) SNV Likely pathogenic 873540 GRCh37: 2:15567847-15567847
GRCh38: 2:15427723-15427723
25 NBAS NM_015909.4(NBAS):c.335+1G>A SNV Likely pathogenic 801651 rs1573008071 GRCh37: 2:15693549-15693549
GRCh38: 2:15553425-15553425
26 NBAS NM_015909.4(NBAS):c.680A>C (p.His227Pro) SNV Likely pathogenic 424843 rs748880753 GRCh37: 2:15674733-15674733
GRCh38: 2:15534609-15534609
27 MARS1 NM_004990.4(MARS1):c.920A>G (p.Tyr307Cys) SNV Likely pathogenic 496635 rs758523839 GRCh37: 12:57892235-57892235
GRCh38: 12:57498452-57498452
28 NBAS NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) SNV Conflicting interpretations of pathogenicity 218416 rs368085185 GRCh37: 2:15679451-15679451
GRCh38: 2:15539327-15539327
29 MARS1 NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) SNV Uncertain significance 542175 rs779548081 GRCh37: 12:57910327-57910327
GRCh38: 12:57516544-57516544
30 MARS1 NM_004990.4(MARS1):c.1181G>A (p.Arg394His) SNV Uncertain significance 542177 rs769544594 GRCh37: 12:57894193-57894193
GRCh38: 12:57500410-57500410
31 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer) Deletion Uncertain significance 933333 GRCh37: 12:57881970-57881970
GRCh38: 12:57488187-57488187
32 MARS1 NM_004990.4(MARS1):c.2408A>C (p.Gln803Pro) SNV Uncertain significance 1029913 GRCh37: 12:57909719-57909719
GRCh38: 12:57515936-57515936
33 MARS1 NM_004990.4(MARS1):c.1294-19C>G SNV Uncertain significance 1032278 GRCh37: 12:57897989-57897989
GRCh38: 12:57504206-57504206
34 MARS1 NM_004990.4(MARS1):c.1636-7C>G SNV Uncertain significance 1037334 GRCh37: 12:57906012-57906012
GRCh38: 12:57512229-57512229
35 MARS1 NM_004990.4(MARS1):c.643G>A (p.Ala215Thr) SNV Uncertain significance 1042089 GRCh37: 12:57884142-57884142
GRCh38: 12:57490359-57490359
36 MARS1 NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu) SNV Uncertain significance 1046005 GRCh37: 12:57910085-57910085
GRCh38: 12:57516302-57516302
37 MARS1 NM_004990.4(MARS1):c.631G>A (p.Ala211Thr) SNV Uncertain significance 618206 rs147034935 GRCh37: 12:57884130-57884130
GRCh38: 12:57490347-57490347
38 MARS1 NM_004990.4(MARS1):c.1091+2dup Duplication Uncertain significance 430002 rs754216322 GRCh37: 12:57892407-57892408
GRCh38: 12:57498624-57498625
39 MARS1 NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) SNV Uncertain significance 573196 rs1565637642 GRCh37: 12:57884115-57884115
GRCh38: 12:57490332-57490332
40 MARS1 NM_004990.4(MARS1):c.1732G>A (p.Val578Ile) SNV Uncertain significance 848340 GRCh37: 12:57906115-57906115
GRCh38: 12:57512332-57512332
41 MARS1 NM_004990.4(MARS1):c.330G>T (p.Gly110=) SNV Uncertain significance 853107 GRCh37: 12:57883257-57883257
GRCh38: 12:57489474-57489474
42 MARS1 NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) SNV Uncertain significance 618205 rs369313141 GRCh37: 12:57883077-57883077
GRCh38: 12:57489294-57489294
43 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.38T>C (p.Leu13Ser) SNV Uncertain significance 949640 GRCh37: 12:57881911-57881911
GRCh38: 12:57488128-57488128
44 MARS1 NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) SNV Uncertain significance 444297 rs778753999 GRCh37: 12:57884391-57884391
GRCh38: 12:57490608-57490608
45 MARS1 NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala) SNV Uncertain significance 1001765 GRCh37: 12:57898032-57898032
GRCh38: 12:57504249-57504249
46 MARS1 NM_004990.4(MARS1):c.751C>T (p.Arg251Trp) SNV Uncertain significance 1009808 GRCh37: 12:57884408-57884408
GRCh38: 12:57490625-57490625
47 MARS1 NM_004990.4(MARS1):c.1967+3A>G SNV Uncertain significance 935820 GRCh37: 12:57906750-57906750
GRCh38: 12:57512967-57512967
48 MARS1 NM_004990.4(MARS1):c.659del (p.Pro220fs) Deletion Uncertain significance 946663 GRCh37: 12:57884157-57884157
GRCh38: 12:57490374-57490374
49 MARS1 NM_004990.4(MARS1):c.415-5C>G SNV Uncertain significance 948750 GRCh37: 12:57883674-57883674
GRCh38: 12:57489891-57489891
50 MARS1 NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr) SNV Uncertain significance 1019872 GRCh37: 12:57909112-57909112
GRCh38: 12:57515329-57515329
51 MARS1 NM_004990.4(MARS1):c.1514dup (p.Pro506fs) Duplication Uncertain significance 1023524 GRCh37: 12:57905625-57905626
GRCh38: 12:57511842-57511843
52 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) SNV Uncertain significance 475435 rs11540809 GRCh37: 12:57881968-57881968
GRCh38: 12:57488185-57488185
53 MARS1 NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) SNV Uncertain significance 542169 rs139033078 GRCh37: 12:57884406-57884406
GRCh38: 12:57490623-57490623
54 MARS1 NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) SNV Uncertain significance 542176 rs200404964 GRCh37: 12:57910034-57910034
GRCh38: 12:57516251-57516251
55 MARS1 NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) SNV Uncertain significance 568199 rs139600659 GRCh37: 12:57906593-57906593
GRCh38: 12:57512810-57512810
56 MARS1 NM_004990.4(MARS1):c.692A>T (p.Glu231Val) SNV Uncertain significance 842917 GRCh37: 12:57884349-57884349
GRCh38: 12:57490566-57490566
57 MARS1 NM_004990.4(MARS1):c.2556+1G>A SNV Uncertain significance 957064 GRCh37: 12:57910121-57910121
GRCh38: 12:57516338-57516338
58 MARS1 NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) SNV Uncertain significance 570331 rs138343927 GRCh37: 12:57910041-57910041
GRCh38: 12:57516258-57516258
59 MARS1 NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) SNV Uncertain significance 572234 rs1408685568 GRCh37: 12:57905497-57905497
GRCh38: 12:57511714-57511714
60 MARS1 NM_004990.4(MARS1):c.1331T>C (p.Val444Ala) SNV Uncertain significance 573020 rs780028144 GRCh37: 12:57898045-57898045
GRCh38: 12:57504262-57504262
61 MARS1 NM_004990.4(MARS1):c.823G>A (p.Val275Ile) SNV Uncertain significance 576047 rs1017657436 GRCh37: 12:57891992-57891992
GRCh38: 12:57498209-57498209
62 MARS1 NM_004990.4(MARS1):c.1968-8C>T SNV Uncertain significance 580398 rs1209991469 GRCh37: 12:57908495-57908495
GRCh38: 12:57514712-57514712
63 MARS1 NM_004990.4(MARS1):c.244A>C (p.Asn82His) SNV Uncertain significance 580648 rs758051760 GRCh37: 12:57883093-57883093
GRCh38: 12:57489310-57489310
64 MARS1 NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) SNV Uncertain significance 583262 rs1395622723 GRCh37: 12:57898080-57898080
GRCh38: 12:57504297-57504297
65 MARS1 NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser) SNV Uncertain significance 641147 rs770756933 GRCh37: 12:57908807-57908807
GRCh38: 12:57515024-57515024
66 MARS1 NM_004990.4(MARS1):c.2280G>A (p.Met760Ile) SNV Uncertain significance 646980 rs1594836361 GRCh37: 12:57909008-57909008
GRCh38: 12:57515225-57515225
67 MARS1 NM_004990.4(MARS1):c.2678C>T (p.Ala893Val) SNV Uncertain significance 648138 rs1027516483 GRCh37: 12:57910339-57910339
GRCh38: 12:57516556-57516556
68 MARS1 NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys) SNV Uncertain significance 654957 rs767132960 GRCh37: 12:57894290-57894290
GRCh38: 12:57500507-57500507
69 MARS1 , MIR6758 NM_004990.4(MARS1):c.1754-1G>C SNV Uncertain significance 656732 rs1594833474 GRCh37: 12:57906533-57906533
GRCh38: 12:57512750-57512750
70 MARS1 NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg) SNV Uncertain significance 661057 rs751129809 GRCh37: 12:57894273-57894273
GRCh38: 12:57500490-57500490
71 MARS1 NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly) SNV Uncertain significance 662003 rs1594835469 GRCh37: 12:57908505-57908505
GRCh38: 12:57514722-57514722
72 MARS1 NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) Duplication Uncertain significance 542170 rs1172463219 GRCh37: 12:57910291-57910292
GRCh38: 12:57516508-57516509
73 MARS1 NM_004990.4(MARS1):c.1148C>G (p.Thr383Ser) SNV Uncertain significance 802866 rs1594821285 GRCh37: 12:57894160-57894160
GRCh38: 12:57500377-57500377
74 MARS1 NM_004990.4(MARS1):c.1244G>T (p.Gly415Val) SNV Uncertain significance 802867 rs1594821386 GRCh37: 12:57894256-57894256
GRCh38: 12:57500473-57500473
75 MARS1 NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys) SNV Uncertain significance 967329 GRCh37: 12:57892348-57892348
GRCh38: 12:57498565-57498565
76 MARS1 NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) SNV Uncertain significance 475418 rs558631075 GRCh37: 12:57908588-57908588
GRCh38: 12:57514805-57514805
77 MARS1 NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) SNV Uncertain significance 475417 rs1205620243 GRCh37: 12:57908568-57908568
GRCh38: 12:57514785-57514785
78 MARS1 NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) Indel Uncertain significance 475434 rs1555166943 GRCh37: 12:57892221-57892234
GRCh38: 12:57498438-57498451
79 MARS1 NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) SNV Uncertain significance 475427 rs753083306 GRCh37: 12:57884049-57884049
GRCh38: 12:57490266-57490266
80 MARS1 NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) SNV Uncertain significance 475424 rs201007223 GRCh37: 12:57883292-57883292
GRCh38: 12:57489509-57489509
81 MARS1 NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) SNV Uncertain significance 575870 rs773914259 GRCh37: 12:57910095-57910095
GRCh38: 12:57516312-57516312
82 MARS1 NM_004990.4(MARS1):c.2391A>C (p.Thr797=) SNV Uncertain significance 389593 rs140573721 GRCh37: 12:57909119-57909119
GRCh38: 12:57515336-57515336
83 MARS1 NM_004990.4(MARS1):c.699T>G (p.Ile233Met) SNV Uncertain significance 449718 rs201597392 GRCh37: 12:57884356-57884356
GRCh38: 12:57490573-57490573
84 MARS1 NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) SNV Uncertain significance 542171 rs138776588 GRCh37: 12:57884116-57884116
GRCh38: 12:57490333-57490333
85 MARS1 NM_004990.4(MARS1):c.1673C>A (p.Pro558His) SNV Uncertain significance 542172 rs771808261 GRCh37: 12:57906056-57906056
GRCh38: 12:57512273-57512273
86 MARS1 NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) SNV Uncertain significance 542173 rs559255944 GRCh37: 12:57909022-57909022
GRCh38: 12:57515239-57515239
87 MARS1 NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) SNV Uncertain significance 420243 rs200334446 GRCh37: 12:57884160-57884160
GRCh38: 12:57490377-57490377
88 NBAS NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) SNV Uncertain significance 264645 rs1553367826 GRCh37: 2:15448416-15448416
GRCh38: 2:15308292-15308292
89 MARS1 NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) SNV Uncertain significance 475419 rs148501787 GRCh37: 12:57908753-57908753
GRCh38: 12:57514970-57514970
90 MARS1 NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly) SNV Uncertain significance 835640 GRCh37: 12:57905647-57905647
GRCh38: 12:57511864-57511864
91 MARS1 NM_004990.4(MARS1):c.652A>G (p.Asn218Asp) SNV Uncertain significance 838269 GRCh37: 12:57884151-57884151
GRCh38: 12:57490368-57490368
92 MARS1 NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln) SNV Uncertain significance 846387 GRCh37: 12:57908775-57908775
GRCh38: 12:57514992-57514992
93 MARS1 NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) SNV Uncertain significance 242615 rs141340466 GRCh37: 12:57894189-57894189
GRCh38: 12:57500406-57500406
94 MARS1 NM_004990.4(MARS1):c.986C>A (p.Pro329His) SNV Uncertain significance 859475 GRCh37: 12:57892301-57892301
GRCh38: 12:57498518-57498518
95 MARS1 NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) SNV Uncertain significance 549700 rs146146070 GRCh37: 12:57884403-57884403
GRCh38: 12:57490620-57490620
96 MARS1 NM_004990.4(MARS1):c.163A>G (p.Ser55Gly) SNV Uncertain significance 944615 GRCh37: 12:57882855-57882855
GRCh38: 12:57489072-57489072
97 MARS1 NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) SNV Uncertain significance 392628 rs776026574 GRCh37: 12:57892022-57892022
GRCh38: 12:57498239-57498239
98 MARS1 NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) SNV Uncertain significance 917043 GRCh37: 12:57883258-57883258
GRCh38: 12:57489475-57489475
99 MARS1 NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) SNV Uncertain significance 655481 rs748955220 GRCh37: 12:57906725-57906725
GRCh38: 12:57512942-57512942
100 MARS1 NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) SNV Uncertain significance 662692 rs141397530 GRCh37: 12:57883280-57883280
GRCh38: 12:57489497-57489497
101 MARS1 NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile) SNV Uncertain significance 977097 GRCh37: 12:57909118-57909118
GRCh38: 12:57515335-57515335
102 MARS1 NM_004990.4(MARS1):c.595C>T (p.Arg199Trp) SNV Uncertain significance 1051981 GRCh37: 12:57884094-57884094
GRCh38: 12:57490311-57490311
103 MARS1 NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile) SNV Uncertain significance 977097 GRCh37: 12:57909118-57909118
GRCh38: 12:57515335-57515335
104 MARS1 NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys) SNV Uncertain significance 1056553 GRCh37: 12:57906572-57906572
GRCh38: 12:57512789-57512789
105 MARS1 NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) SNV Uncertain significance 917128 GRCh37: 12:57892301-57892301
GRCh38: 12:57498518-57498518
106 MARS1 NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) SNV Uncertain significance 917031 GRCh37: 12:57894253-57894253
GRCh38: 12:57500470-57500470
107 MARS1 NM_004990.4(MARS1):c.1448G>A (p.Arg483His) SNV Uncertain significance 917036 GRCh37: 12:57905560-57905560
GRCh38: 12:57511777-57511777
108 NBAS NM_015909.4(NBAS):c.270G>C (p.Trp90Cys) SNV Uncertain significance 1031942 GRCh37: 2:15694202-15694202
GRCh38: 2:15554078-15554078
109 NBAS NM_015909.4(NBAS):c.4280C>T (p.Ala1427Val) SNV Uncertain significance 1032708 GRCh37: 2:15470789-15470789
GRCh38: 2:15330665-15330665
110 NBAS NM_015909.4(NBAS):c.6237-10T>C SNV Uncertain significance 1032710 GRCh37: 2:15359102-15359102
GRCh38: 2:15218978-15218978
111 NBAS NM_015909.4(NBAS):c.6970C>T (p.Arg2324Cys) SNV Uncertain significance 1032711 GRCh37: 2:15307318-15307318
GRCh38: 2:15167194-15167194
112 NBAS NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) SNV Likely benign 731487 rs146449593 GRCh37: 2:15432775-15432775
GRCh38: 2:15292651-15292651
113 MARS1 NM_004990.4(MARS1):c.415-5C>A SNV Likely benign 508936 rs747351446 GRCh37: 12:57883674-57883674
GRCh38: 12:57489891-57489891
114 MARS1 NM_004990.4(MARS1):c.110-10C>T SNV Likely benign 507930 rs113549256 GRCh37: 12:57882792-57882792
GRCh38: 12:57489009-57489009
115 MARS1 NM_004990.4(MARS1):c.2204+10C>T SNV Likely benign 506768 rs376636502 GRCh37: 12:57908851-57908851
GRCh38: 12:57515068-57515068
116 MARS1 NM_004990.4(MARS1):c.2163G>C (p.Val721=) SNV Likely benign 475420 rs762587995 GRCh37: 12:57908800-57908800
GRCh38: 12:57515017-57515017
117 MARS1 NM_004990.4(MARS1):c.831T>C (p.Asn277=) SNV Likely benign 475432 rs367995771 GRCh37: 12:57892000-57892000
GRCh38: 12:57498217-57498217
118 MARS1 NM_004990.4(MARS1):c.132C>T (p.Thr44=) SNV Likely benign 475414 rs1555165361 GRCh37: 12:57882824-57882824
GRCh38: 12:57489041-57489041
119 MARS1 NM_004990.4(MARS1):c.663+8A>C SNV Likely benign 475428 rs199843552 GRCh37: 12:57884170-57884170
GRCh38: 12:57490387-57490387
120 MARS1 NM_004990.4(MARS1):c.2613G>A (p.Ala871=) SNV Likely benign 475423 rs373439522 GRCh37: 12:57910274-57910274
GRCh38: 12:57516491-57516491
121 MARS1 NM_004990.4(MARS1):c.2256C>G (p.Leu752=) SNV Likely benign 475422 rs201540140 GRCh37: 12:57908984-57908984
GRCh38: 12:57515201-57515201
122 MARS1 NM_004990.4(MARS1):c.1095C>T (p.Ile365=) SNV Likely benign 475413 rs1555167079 GRCh37: 12:57894107-57894107
GRCh38: 12:57500324-57500324
123 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.66C>T (p.Ala22=) SNV Likely benign 475429 rs200471304 GRCh37: 12:57881939-57881939
GRCh38: 12:57488156-57488156
124 MARS1 , MIR6758 NM_004990.4(MARS1):c.1754-4C>A SNV Likely benign 475415 rs377361080 GRCh37: 12:57906530-57906530
GRCh38: 12:57512747-57512747
125 MARS1 NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) SNV Likely benign 542174 rs35843015 GRCh37: 12:57910332-57910332
GRCh38: 12:57516549-57516549
126 MARS1 NM_004990.4(MARS1):c.680C>T (p.Thr227Ile) SNV Likely benign 706400 rs73344082 GRCh37: 12:57884337-57884337
GRCh38: 12:57490554-57490554
127 MARS1 NM_004990.4(MARS1):c.630C>T (p.Pro210=) SNV Likely benign 706974 rs143741525 GRCh37: 12:57884129-57884129
GRCh38: 12:57490346-57490346
128 MARS1 NM_004990.4(MARS1):c.496C>T (p.Leu166=) SNV Likely benign 707617 rs760702485 GRCh37: 12:57883995-57883995
GRCh38: 12:57490212-57490212
129 MARS1 NM_004990.4(MARS1):c.2472G>A (p.Thr824=) SNV Likely benign 728776 rs1594838097 GRCh37: 12:57910036-57910036
GRCh38: 12:57516253-57516253
130 MARS1 NM_004990.4(MARS1):c.2491G>A (p.Val831Ile) SNV Likely benign 767139 rs199773459 GRCh37: 12:57910055-57910055
GRCh38: 12:57516272-57516272
131 MARS1 NM_004990.4(MARS1):c.1636-9T>C SNV Likely benign 767557 rs373186969 GRCh37: 12:57906010-57906010
GRCh38: 12:57512227-57512227
132 MARS1 NM_004990.4(MARS1):c.1369-7A>C SNV Likely benign 542179 rs377050640 GRCh37: 12:57905474-57905474
GRCh38: 12:57511691-57511691
133 MARS1 NM_004990.4(MARS1):c.747G>A (p.Pro249=) SNV Likely benign 444298 rs200490364 GRCh37: 12:57884404-57884404
GRCh38: 12:57490621-57490621
134 MARS1 NM_004990.4(MARS1):c.915C>T (p.Thr305=) SNV Likely benign 542178 rs199641659 GRCh37: 12:57892230-57892230
GRCh38: 12:57498447-57498447
135 ARHGAP9 , MARS1 NM_004990.4(MARS1):c.42G>T (p.Pro14=) SNV Likely benign 386932 rs144002827 GRCh37: 12:57881915-57881915
GRCh38: 12:57488132-57488132
136 MARS1 NM_004990.4(MARS1):c.626G>A (p.Ser209Asn) SNV Benign 385033 rs141671963 GRCh37: 12:57884125-57884125
GRCh38: 12:57490342-57490342
137 MARS1 NM_004990.4(MARS1):c.1360C>T (p.Leu454=) SNV Benign 389741 rs139002397 GRCh37: 12:57898074-57898074
GRCh38: 12:57504291-57504291
138 MARS1 NM_004990.4(MARS1):c.2209C>A (p.Arg737=) SNV Benign 475421 rs139536122 GRCh37: 12:57908937-57908937
GRCh38: 12:57515154-57515154
139 MARS1 NM_004990.4(MARS1):c.801C>T (p.Leu267=) SNV Benign 475431 rs151260441 GRCh37: 12:57891970-57891970
GRCh38: 12:57498187-57498187
140 MARS1 NM_004990.4(MARS1):c.1689C>T (p.Val563=) SNV Benign 389203 rs117833843 GRCh37: 12:57906072-57906072
GRCh38: 12:57512289-57512289
141 MARS1 NM_004990.4(MARS1):c.1294-5C>T SNV Benign 388761 rs149946100 GRCh37: 12:57898003-57898003
GRCh38: 12:57504220-57504220
142 MARS1 NM_004990.4(MARS1):c.873C>T (p.Ala291=) SNV Benign 385405 rs79531790 GRCh37: 12:57892042-57892042
GRCh38: 12:57498259-57498259
143 MARS1 NM_004990.4(MARS1):c.1500A>G (p.Lys500=) SNV Benign 381454 rs2290297 GRCh37: 12:57905612-57905612
GRCh38: 12:57511829-57511829
144 MARS1 NM_004990.4(MARS1):c.2532G>A (p.Ala844=) SNV Benign 380846 rs73344102 GRCh37: 12:57910096-57910096
GRCh38: 12:57516313-57516313
145 MARS1 NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) SNV Benign 475433 rs139661803 GRCh37: 12:57892216-57892216
GRCh38: 12:57498433-57498433
146 MARS1 NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) SNV Benign 380553 rs113808165 GRCh37: 12:57908817-57908817
GRCh38: 12:57515034-57515034
147 MARS1 NM_004990.4(MARS1):c.1753+7A>G SNV Benign 374666 rs117914586 GRCh37: 12:57906143-57906143
GRCh38: 12:57512360-57512360
148 MARS1 NM_004990.4(MARS1):c.1812G>A (p.Gly604=) SNV Benign 475416 rs117633211 GRCh37: 12:57906592-57906592
GRCh38: 12:57512809-57512809
149 MARS1 NM_004990.4(MARS1):c.477C>T (p.Pro159=) SNV Benign 475426 rs117101415 GRCh37: 12:57883741-57883741
GRCh38: 12:57489958-57489958

UniProtKB/Swiss-Prot genetic disease variations for Interstitial Lung and Liver Disease:

72 (showing 6, show less)
# Symbol AA change Variation ID SNP ID
1 MARS1 p.Phe370Leu VAR_070872 rs140467171
2 MARS1 p.Ile523Thr VAR_070873 rs201555303
3 MARS1 p.Tyr344Cys VAR_075361 rs766466297
4 MARS1 p.Ala393Thr VAR_075362 rs141340466
5 MARS1 p.Ser567Leu VAR_075363 rs143592405
6 MARS1 p.Asp605Val VAR_075364 rs756021768

Expression for Interstitial Lung and Liver Disease

Search GEO for disease gene expression data for Interstitial Lung and Liver Disease.

Pathways for Interstitial Lung and Liver Disease

Pathways related to Interstitial Lung and Liver Disease according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 MIR6758 MARS1 FARSB

GO Terms for Interstitial Lung and Liver Disease

Biological processes related to Interstitial Lung and Liver Disease according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 8.96 MARS1 FARSB
2 tRNA aminoacylation for protein translation GO:0006418 8.62 MARS1 FARSB

Molecular functions related to Interstitial Lung and Liver Disease according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.96 MARS1 FARSB
2 aminoacyl-tRNA ligase activity GO:0004812 8.62 MARS1 FARSB

Sources for Interstitial Lung and Liver Disease

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
Content
Loading form....