Interstitial Lung And Liver Disease; Illd

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Interstitial Lung And Liver Disease; Illd

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly
  • Respiratory insufficiency
  • Respiratory distress
  • Vomiting
  • Hypothyroidism
  • Dyspnea

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Interstitial Lung And Liver Disease; Illd Is also known as infantile liver failure syndrome 2, formerly, pulmonary alveolar proteinosis, reunion island, ilfs2, formerly.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Interstitial Lung And Liver Disease; Illd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SPTLC1, TTR, PRX, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, MED25, SH3TC2, DYNC1H1, HSPB8, EGR2, GARS, GJB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Neonatal Respiratory Distress Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SFTPB, SLC7A7, TERC, TERT, NKX2-1, COPA, CSF2RA, CSF2RB, DKC1, ABCA3, FLNA, FOXF1, GATA2, JAG1, MARS, NOTCH2
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SFTPB, SLC7A7, TERC, TERT, NKX2-1, COPA, CSF2RA, CSF2RB, DKC1, ABCA3, FLNA, FOXF1, GATA2, JAG1, MARS, NOTCH2
Specificity
7 %
Genes
100 %
Neonatal Respiratory Distress Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SFTPB, SLC7A7, TERC, TERT, NKX2-1, COPA, CSF2RA, CSF2RB, DKC1, ABCA3, FLNA, FOXF1, GATA2, JAG1, MARS, NOTCH2
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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