Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations

Description

gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.

Clinical Features

Top most frequent phenotypes and symptoms related to Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations

  • Seizures
  • Pica
  • Ventricular septal defect
  • Fever
  • Abnormality of cardiovascular system morphology
  • Cerebral atrophy
  • Encephalopathy
  • Pneumonia
  • Recurrent infections
  • Elevated hepatic transaminase
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CASP8, KRAS, NRAS, MAGT1, FAS, FASLG, CASP10, ITK, FADD
Specificity
12 %
Genes
100 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CASP8, KRAS, NRAS, MAGT1, FAS, FASLG, CASP10, ITK, FADD
Specificity
12 %
Genes
100 %
FADD Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FADD
Specificity
100 %
Genes
100 %
FADD Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FADD
Specificity
100 %
Genes
100 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASP8, STAT3, KRAS, NRAS, MAGT1, SH2D1A, FAS, XIAP, FASLG, CASP10, ITK, PIK3CD, LRBA, FADD, CTLA4, PRKCD
Specificity
7 %
Genes
100 %
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CASP8, AIRE, KRAS, NRAS, FOXP3, FAS, FASLG, CASP10, LRBA, FADD, IL2RA, ITCH
Specificity
9 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
FADD.

By Fulgent Genetics Fulgent Genetics in United States.

FADD
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis Panel.

By Blueprint Genetics in Finland.

RECQL4, PRF1, MAGT1, LYST, SH2D1A, MYO5A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, STXBP2, ITK, FADD
Specificity
7 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CASP8, KRAS, NRAS, MAGT1, FAS, FASLG, CASP10, ITK, FADD, CTLA4
Specificity
10 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations Is also known as fadd deficiency;.



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