MCID: INF158
MIFTS: 25

Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases, Cardiovascular diseases

Aliases & Classifications for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

MalaCards integrated aliases for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:

Name: Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 57 29 6 40 73
Infections, Recurrent, Associated with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 6
Infections, Recurrent, Associated with Encephalopathy, Hepatic Dysfunction and Cardiovascular Malformations 75
Fadd-Related Immunodeficiency 59
Fadd Deficiency 57
Iehdcm 75

Characteristics:

Orphanet epidemiological data:

59
fadd-related immunodeficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

UniProtKB/Swiss-Prot : 75 Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations: A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV).

MalaCards based summary : Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations, is also known as infections, recurrent, associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations, and has symptoms including seizures An important gene associated with Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations is FADD (Fas Associated Via Death Domain). Affiliated tissues include liver, t cells and bone, and related phenotypes are seizures and encephalopathy

Description from OMIM: 613759

Related Diseases for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

Symptoms & Phenotypes for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
encephalopathy
cerebral atrophy

Immunology:
recurrent infections
increased number of cd4(-)cd8(-)tcr-alpha-beta(+) t cells

Laboratory Abnormalities:
increased interleukin 10
increased fas ligand

AbdomenSpleen:
functional hyposplenism
howell-jolly bodies present

Cardiovascular Heart:
ventricular septal defect

Cardiovascular Vascular:
pulmonary atresia
superior vena cava left-sided, draining into left atrium

Abdomen Liver:
liver dysfunction, mild
transaminases mildly elevated


Clinical features from OMIM:

613759

Human phenotypes related to Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 obligate (100%) Obligate (100%) HP:0001250
2 encephalopathy 59 32 obligate (100%) Obligate (100%) HP:0001298
3 decreased liver function 59 32 obligate (100%) Obligate (100%) HP:0001410
4 hepatic fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001395
5 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
6 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
7 pulmonary artery atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004935
8 autoimmune antibody positivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0030057
9 recurrent infections 32 HP:0002719

UMLS symptoms related to Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:


seizures

Drugs & Therapeutics for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

Search Clinical Trials , NIH Clinical Center for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations

Genetic Tests for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

Genetic tests related to Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:

# Genetic test Affiliating Genes
1 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 29 FADD

Anatomical Context for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

MalaCards organs/tissues related to Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:

41
Liver, T Cells, Bone, Bone Marrow

Publications for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

Articles related to Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:

# Title Authors Year
1
FADD deficiency impairs early hematopoiesis in the bone marrow. ( 21115735 )
2011
2
Whole-exome-sequencing-based discovery of human FADD deficiency. ( 21109225 )
2010
3
FADD deficiency sensitises Jurkat T cells to TNF-alpha-dependent necrosis during activation-induced cell death. ( 16289096 )
2005
4
T cell-specific FADD-deficient mice: FADD is required for early T cell development. ( 11353862 )
2001
5
FADD is required for DR4- and DR5-mediated apoptosis: lack of trail-induced apoptosis in FADD-deficient mouse embryonic fibroblasts. ( 10862756 )
2000

Variations for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

UniProtKB/Swiss-Prot genetic disease variations for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:

75
# Symbol AA change Variation ID SNP ID
1 FADD p.Cys105Trp VAR_065124 rs387906839

ClinVar genetic disease variations for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FADD NM_003824.3(FADD): c.315T> G (p.Cys105Trp) single nucleotide variant Pathogenic rs387906839 GRCh37 Chromosome 11, 70052267: 70052267
2 FADD NM_003824.3(FADD): c.315T> G (p.Cys105Trp) single nucleotide variant Pathogenic rs387906839 GRCh38 Chromosome 11, 70206161: 70206161
3 FADD NM_003824.3(FADD): c.52_58delAGCGAGC (p.Ser18Terfs) deletion no interpretation for the single variant rs863224871 GRCh38 Chromosome 11, 70203511: 70203517
4 FADD NM_003824.3(FADD): c.52_58delAGCGAGC (p.Ser18Terfs) deletion no interpretation for the single variant rs863224871 GRCh37 Chromosome 11, 70049617: 70049623
5 FADD NM_003824.3(FADD): c.313T> C (p.Cys105Arg) single nucleotide variant no interpretation for the single variant rs369869993 GRCh38 Chromosome 11, 70206159: 70206159
6 FADD NM_003824.3(FADD): c.313T> C (p.Cys105Arg) single nucleotide variant no interpretation for the single variant rs369869993 GRCh37 Chromosome 11, 70052265: 70052265
7 FADD NM_003824.3(FADD): c.93G> T (p.Val31=) single nucleotide variant Benign rs41268213 GRCh37 Chromosome 11, 70049658: 70049658
8 FADD NM_003824.3(FADD): c.93G> T (p.Val31=) single nucleotide variant Benign rs41268213 GRCh38 Chromosome 11, 70203552: 70203552
9 FADD NM_003824.3(FADD): c.475G> A (p.Ala159Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 70052427: 70052427
10 FADD NM_003824.3(FADD): c.475G> A (p.Ala159Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 70206321: 70206321
11 FADD NM_003824.3(FADD): c.287-8C> G single nucleotide variant Likely benign GRCh38 Chromosome 11, 70206125: 70206125
12 FADD NM_003824.3(FADD): c.287-8C> G single nucleotide variant Likely benign GRCh37 Chromosome 11, 70052231: 70052231
13 FADD NM_003824.3(FADD): c.168G> T (p.Glu56Asp) single nucleotide variant Uncertain significance rs777501231 GRCh37 Chromosome 11, 70049733: 70049733
14 FADD NM_003824.3(FADD): c.168G> T (p.Glu56Asp) single nucleotide variant Uncertain significance rs777501231 GRCh38 Chromosome 11, 70203627: 70203627

Expression for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

Search GEO for disease gene expression data for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations.

Pathways for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

GO Terms for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

Sources for Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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