ILLD
MCID: INT271
MIFTS: 34

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 59 75 37 29 6
Pulmonary Alveolar Proteinosis, Reunion Island 57 75
Infantile Liver Failure Syndrome 2 75 73
Illd 57 75
Severe Early-Onset Pulmonary Alveolar Proteinosis Due to Mars Deficiency 59
Hereditary Pulmonary Alveolar Proteinosis with Hepatic Involvement 59
Infantile Liver Failure Syndrome 2, Formerly; Ilfs2, Formerly 57
Pulmonary Alveolar Proteinosis, Reunion Island Type 59
Infantile Liver Failure Syndrome 2, Formerly 57
Lung and Liver Disease, Interstitial 40
Pap, Reunion Island Type 59
Ilfs2, Formerly 57
Ilfs2 75

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
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:

32
interstitial lung and liver disease:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Interstitial Lung and Liver Disease

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Interstitial Lung and Liver Disease, also known as pulmonary alveolar proteinosis, reunion island, is related to liver disease and infantile liver failure syndrome 2. An important gene associated with Interstitial Lung and Liver Disease is MARS (Methionyl-TRNA Synthetase), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include liver and lung, and related phenotypes are hypothyroidism 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)

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:

# Related Disease Score Top Affiliating Genes
1 liver disease 29.8 DDIT3 MARS
2 infantile liver failure syndrome 2 12.7
3 charcot-marie-tooth disease 9.9
4 tooth disease 9.9
5 charcot-marie-tooth disease, axonal, type 2u 9.3 ARHGAP9 DDIT3 MARS MIR6758

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly
steatosis
liver dysfunction
fibrosis
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

Human phenotypes related to Interstitial Lung and Liver Disease:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 failure to thrive 32 HP:0001508
3 respiratory insufficiency 32 HP:0002093
4 hepatomegaly 32 HP:0002240
5 aminoaciduria 32 HP:0003355
6 dyspnea 32 HP:0002094
7 decreased liver function 32 HP:0001410
8 anemia 32 HP:0001903
9 hepatic steatosis 32 HP:0001397
10 cirrhosis 32 occasional (7.5%) HP:0001394
11 cough 32 HP:0012735
12 acidosis 32 HP:0001941
13 interstitial pulmonary abnormality 32 HP:0006530
14 alveolar proteinosis 32 HP:0006517
15 clubbing 32 HP:0001217
16 elevated hepatic transaminase 32 HP:0002910

Drugs & Therapeutics for Interstitial Lung and Liver Disease

Search Clinical Trials , 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 MARS

Anatomical Context for Interstitial Lung and Liver Disease

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

41
Liver, Lung

Publications for Interstitial Lung and Liver Disease

Articles related to Interstitial Lung and Liver Disease:

# Title Authors Year
1
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. ( 29655802 )
2018
2
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature. ( 30271085 )
2018
3
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia. ( 28148924 )
2017

Variations for Interstitial Lung and Liver Disease

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

75
# Symbol AA change Variation ID SNP ID
1 MARS p.Phe370Leu VAR_070872 rs140467171
2 MARS p.Ile523Thr VAR_070873 rs201555303
3 MARS p.Tyr344Cys VAR_075361 rs766466297
4 MARS p.Ala393Thr VAR_075362 rs141340466
5 MARS p.Ser567Leu VAR_075363 rs143592405
6 MARS p.Asp605Val VAR_075364 rs756021768

ClinVar genetic disease variations for Interstitial Lung and Liver Disease:

6 (show top 50) (show all 140)
# Gene Variation Type Significance SNP ID Assembly Location
1 MARS NM_004990.3(MARS): c.1108T> C (p.Phe370Leu) single nucleotide variant Likely pathogenic rs140467171 GRCh37 Chromosome 12, 57894120: 57894120
2 MARS NM_004990.3(MARS): c.1108T> C (p.Phe370Leu) single nucleotide variant Likely pathogenic rs140467171 GRCh38 Chromosome 12, 57500337: 57500337
3 MARS NM_004990.3(MARS): c.1568T> C (p.Ile523Thr) single nucleotide variant Pathogenic rs201555303 GRCh37 Chromosome 12, 57905819: 57905819
4 MARS NM_004990.3(MARS): c.1568T> C (p.Ile523Thr) single nucleotide variant Pathogenic rs201555303 GRCh38 Chromosome 12, 57512036: 57512036
5 MARS NM_004990.3(MARS): c.1852C> T (p.Arg618Cys) single nucleotide variant Uncertain significance rs587777718 GRCh37 Chromosome 12, 57906632: 57906632
6 MARS NM_004990.3(MARS): c.1852C> T (p.Arg618Cys) single nucleotide variant Uncertain significance rs587777718 GRCh38 Chromosome 12, 57512849: 57512849
7 MARS NM_004990.3(MARS): c.1031A> G (p.Tyr344Cys) single nucleotide variant Pathogenic rs766466297 GRCh38 Chromosome 12, 57498563: 57498563
8 MARS NM_004990.3(MARS): c.1031A> G (p.Tyr344Cys) single nucleotide variant Pathogenic rs766466297 GRCh37 Chromosome 12, 57892346: 57892346
9 MARS NM_004990.3(MARS): c.1177G> A (p.Ala393Thr) single nucleotide variant no interpretation for the single variant rs141340466 GRCh38 Chromosome 12, 57500406: 57500406
10 MARS NM_004990.3(MARS): c.1177G> A (p.Ala393Thr) single nucleotide variant no interpretation for the single variant rs141340466 GRCh37 Chromosome 12, 57894189: 57894189
11 MARS NM_004990.3(MARS): c.1700C> T (p.Ser567Leu) single nucleotide variant no interpretation for the single variant rs143592405 GRCh38 Chromosome 12, 57512300: 57512300
12 MARS NM_004990.3(MARS): c.1700C> T (p.Ser567Leu) single nucleotide variant no interpretation for the single variant rs143592405 GRCh37 Chromosome 12, 57906083: 57906083
13 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh38 Chromosome 12, 57512811: 57512811
14 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh37 Chromosome 12, 57906594: 57906594
15 MARS NM_004990.3(MARS): c.1753+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs117914586 GRCh37 Chromosome 12, 57906143: 57906143
16 MARS NM_004990.3(MARS): c.1753+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs117914586 GRCh38 Chromosome 12, 57512360: 57512360
17 MARS NM_004990.3(MARS): c.42G> T (p.Pro14=) single nucleotide variant Likely benign rs144002827 GRCh37 Chromosome 12, 57881915: 57881915
18 MARS NM_004990.3(MARS): c.42G> T (p.Pro14=) single nucleotide variant Likely benign rs144002827 GRCh38 Chromosome 12, 57488132: 57488132
19 MARS NM_004990.3(MARS): c.1294-5C> T single nucleotide variant Benign/Likely benign rs149946100 GRCh37 Chromosome 12, 57898003: 57898003
20 MARS NM_004990.3(MARS): c.1294-5C> T single nucleotide variant Benign/Likely benign rs149946100 GRCh38 Chromosome 12, 57504220: 57504220
21 MARS NM_004990.3(MARS): c.2180G> A (p.Arg727Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs113808165 GRCh37 Chromosome 12, 57908817: 57908817
22 MARS NM_004990.3(MARS): c.2180G> A (p.Arg727Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs113808165 GRCh38 Chromosome 12, 57515034: 57515034
23 MARS NM_004990.3(MARS): c.1500A> G (p.Lys500=) single nucleotide variant Benign rs2290297 GRCh37 Chromosome 12, 57905612: 57905612
24 MARS NM_004990.3(MARS): c.1500A> G (p.Lys500=) single nucleotide variant Benign rs2290297 GRCh38 Chromosome 12, 57511829: 57511829
25 MARS NM_004990.3(MARS): c.2391A> C (p.Thr797=) single nucleotide variant Conflicting interpretations of pathogenicity rs140573721 GRCh37 Chromosome 12, 57909119: 57909119
26 MARS NM_004990.3(MARS): c.2391A> C (p.Thr797=) single nucleotide variant Conflicting interpretations of pathogenicity rs140573721 GRCh38 Chromosome 12, 57515336: 57515336
27 MARS NM_004990.3(MARS): c.873C> T (p.Ala291=) single nucleotide variant Benign rs79531790 GRCh37 Chromosome 12, 57892042: 57892042
28 MARS NM_004990.3(MARS): c.873C> T (p.Ala291=) single nucleotide variant Benign rs79531790 GRCh38 Chromosome 12, 57498259: 57498259
29 MARS NM_004990.3(MARS): c.1689C> T (p.Val563=) single nucleotide variant Benign rs117833843 GRCh38 Chromosome 12, 57512289: 57512289
30 MARS NM_004990.3(MARS): c.1689C> T (p.Val563=) single nucleotide variant Benign rs117833843 GRCh37 Chromosome 12, 57906072: 57906072
31 MARS NM_004990.3(MARS): c.2532G> A (p.Ala844=) single nucleotide variant Benign rs73344102 GRCh37 Chromosome 12, 57910096: 57910096
32 MARS NM_004990.3(MARS): c.2532G> A (p.Ala844=) single nucleotide variant Benign rs73344102 GRCh38 Chromosome 12, 57516313: 57516313
33 MARS NM_004990.3(MARS): c.661G> A (p.Glu221Lys) single nucleotide variant Uncertain significance rs200334446 GRCh38 Chromosome 12, 57490377: 57490377
34 MARS NM_004990.3(MARS): c.661G> A (p.Glu221Lys) single nucleotide variant Uncertain significance rs200334446 GRCh37 Chromosome 12, 57884160: 57884160
35 MARS NM_004990.3(MARS): c.1091+2dup duplication Uncertain significance rs1131691723 GRCh37 Chromosome 12, 57892408: 57892408
36 MARS NM_004990.3(MARS): c.1091+2dup duplication Uncertain significance rs1131691723 GRCh38 Chromosome 12, 57498625: 57498625
37 MARS NM_004990.3(MARS): c.747G> A (p.Pro249=) single nucleotide variant Conflicting interpretations of pathogenicity rs200490364 GRCh37 Chromosome 12, 57884404: 57884404
38 MARS NM_004990.3(MARS): c.747G> A (p.Pro249=) single nucleotide variant Conflicting interpretations of pathogenicity rs200490364 GRCh38 Chromosome 12, 57490621: 57490621
39 MARS NM_004990.3(MARS): c.699T> G (p.Ile233Met) single nucleotide variant Uncertain significance rs201597392 GRCh37 Chromosome 12, 57884356: 57884356
40 MARS NM_004990.3(MARS): c.699T> G (p.Ile233Met) single nucleotide variant Uncertain significance rs201597392 GRCh38 Chromosome 12, 57490573: 57490573
41 MARS NM_004990.3(MARS): c.95C> G (p.Thr32Ser) single nucleotide variant Uncertain significance rs11540809 GRCh38 Chromosome 12, 57488185: 57488185
42 MARS NM_004990.3(MARS): c.95C> G (p.Thr32Ser) single nucleotide variant Uncertain significance rs11540809 GRCh37 Chromosome 12, 57881968: 57881968
43 MARS NM_004990.3(MARS): c.1812G> A (p.Gly604=) single nucleotide variant Benign rs117633211 GRCh38 Chromosome 12, 57512809: 57512809
44 MARS NM_004990.3(MARS): c.1812G> A (p.Gly604=) single nucleotide variant Benign rs117633211 GRCh37 Chromosome 12, 57906592: 57906592
45 MARS NM_004990.3(MARS): c.2163G> C (p.Val721=) single nucleotide variant Likely benign rs762587995 GRCh38 Chromosome 12, 57515017: 57515017
46 MARS NM_004990.3(MARS): c.2163G> C (p.Val721=) single nucleotide variant Likely benign rs762587995 GRCh37 Chromosome 12, 57908800: 57908800
47 MARS NM_004990.3(MARS): c.2209C> A (p.Arg737=) single nucleotide variant Benign rs139536122 GRCh38 Chromosome 12, 57515154: 57515154
48 MARS NM_004990.3(MARS): c.2209C> A (p.Arg737=) single nucleotide variant Benign rs139536122 GRCh37 Chromosome 12, 57908937: 57908937
49 MARS NM_004990.3(MARS): c.2256C> G (p.Leu752=) single nucleotide variant Likely benign rs201540140 GRCh38 Chromosome 12, 57515201: 57515201
50 MARS NM_004990.3(MARS): c.2256C> G (p.Leu752=) single nucleotide variant Likely benign rs201540140 GRCh37 Chromosome 12, 57908984: 57908984

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 FARSB MARS MIR6758

GO Terms for Interstitial Lung and Liver Disease

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 8.62 FARSB MARS

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.96 FARSB MARS
2 aminoacyl-tRNA ligase activity GO:0004812 8.62 FARSB MARS

Sources for Interstitial Lung and Liver Disease

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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