AIFEC
MCID: ATN011
MIFTS: 34

Autoinflammation with Infantile Enterocolitis (AIFEC)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Autoinflammation with Infantile Enterocolitis

MalaCards integrated aliases for Autoinflammation with Infantile Enterocolitis:

Name: Autoinflammation with Infantile Enterocolitis 58 76 38 30 6 41 74
Enterocolitis 45 74
Aifec 58 76
Nlrc4-Related Autoinflammatory Syndrome with Macrophage Activation Syndrome 60
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome 60
Nlrc4-Related Infantile Enterocolitis-Autoinflammatory Syndrome 60
Nlrc4-Related Autoinflammatory Syndrome with Mas 60
Nlrc4-Related Macrophage Activation Syndrome 60
Nlrc4-Related Mas 60

Characteristics:

Orphanet epidemiological data:

60
periodic fever-infantile enterocolitis-autoinflammatory syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in neonatal period or early infancy
two unrelated families have been reported (last curated october 2014)
enterocolitis tends to remit with age
flares triggered by viral infection, overexertion, stress


HPO:

33
autoinflammation with infantile enterocolitis:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation with Infantile Enterocolitis

OMIM : 58 Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014). (616050)

MalaCards based summary : Autoinflammation with Infantile Enterocolitis, also known as enterocolitis, is related to enterocolitis and perinatal necrotizing enterocolitis, and has symptoms including arthralgia, myalgia and exanthema. An important gene associated with Autoinflammation with Infantile Enterocolitis is NLRC4 (NLR Family CARD Domain Containing 4), and among its related pathways/superpathways is NOD-like receptor signaling pathway. Affiliated tissues include bone, heart and nk cells, and related phenotypes are failure to thrive and splenomegaly

UniProtKB/Swiss-Prot : 76 Autoinflammation with infantile enterocolitis: An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias.

Related Diseases for Autoinflammation with Infantile Enterocolitis

Diseases related to Autoinflammation with Infantile Enterocolitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 enterocolitis 29.5 NLRC4 SLC30A6
2 perinatal necrotizing enterocolitis 12.8
3 mastocytic enterocolitis 12.5
4 clostridium difficile colitis 11.8
5 short bowel syndrome 11.4
6 hirschsprung disease 1 11.4
7 hypoganglionosis 11.3
8 hemolytic uremic syndrome, atypical 1 11.2
9 5-oxoprolinase deficiency 11.0
10 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.0
11 hemolytic uremic syndrome, atypical 2 11.0
12 hemolytic uremic syndrome, atypical 3 11.0
13 hemolytic uremic syndrome, atypical 4 11.0
14 hemolytic uremic syndrome, atypical 5 11.0
15 hemolytic uremic syndrome, atypical 6 11.0
16 intestinal perforation 10.5
17 leukemia 10.4
18 heart disease 10.3
19 diarrhea 10.3
20 colitis 10.3
21 hypoxia 10.3
22 appendicitis 10.2
23 ischemia 10.2
24 inflammatory bowel disease 10.2
25 intussusception 10.2
26 acute leukemia 10.2
27 arthritis 10.1
28 crohn's disease 10.1
29 patent ductus arteriosus 1 10.1
30 leukemia, acute myeloid 10.1
31 thrombocytopenia 10.1
32 milk allergy 10.1
33 mucormycosis 10.1
34 myeloid leukemia 10.1
35 neutropenia 10.0
36 megacolon 10.0
37 gastroenteritis 10.0
38 cytomegalovirus infection 10.0
39 gastroschisis 10.0
40 hypoplastic left heart syndrome 1 10.0
41 hypoplastic left heart syndrome 10.0
42 toxic megacolon 10.0
43 peritonitis 10.0
44 hypereosinophilic syndrome 10.0
45 abdominal wall defect 10.0
46 breast cancer 9.9
47 down syndrome 9.9
48 lung cancer 9.9
49 leukemia, acute lymphoblastic 9.9
50 deficiency anemia 9.9

Graphical network of the top 20 diseases related to Autoinflammation with Infantile Enterocolitis:



Diseases related to Autoinflammation with Infantile Enterocolitis

Symptoms & Phenotypes for Autoinflammation with Infantile Enterocolitis

Human phenotypes related to Autoinflammation with Infantile Enterocolitis:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 splenomegaly 33 HP:0001744
3 short stature 33 HP:0004322
4 fever 33 HP:0001945
5 arthralgia 33 HP:0002829
6 pancytopenia 33 HP:0001876
7 myalgia 33 HP:0003326
8 skin rash 33 HP:0000988
9 increased serum ferritin 33 HP:0003281
10 disseminated intravascular coagulation 33 HP:0005521
11 enterocolitis 33 HP:0004387
12 secretory diarrhea 33 HP:0005208

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Growth Height:
short stature

Abdomen Gastrointestinal:
vomiting, infantile
villous blunting
enterocolitis, infantile
secretory diarrhea, infantile

Muscle Soft Tissue:
myalgias

Skin Nails Hair Skin:
rash

Immunology:
autoinflammation, systemic
activated macrophages
low nk cells
dysfunctional nk cells

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
increased serum ferritin
increased c-reactive protein
increased il18
increased il1b increased soluble il2r

Metabolic Features:
fever, episodic

Skeletal:
arthralgias

Hematology:
disseminated intravascular coagulation, episodic
pancytopenia, episodic

Clinical features from OMIM:

616050

UMLS symptoms related to Autoinflammation with Infantile Enterocolitis:


arthralgia, myalgia, exanthema, vomiting, infantile

Drugs & Therapeutics for Autoinflammation with Infantile Enterocolitis

Search Clinical Trials , NIH Clinical Center for Autoinflammation with Infantile Enterocolitis

Cochrane evidence based reviews: enterocolitis

Genetic Tests for Autoinflammation with Infantile Enterocolitis

Genetic tests related to Autoinflammation with Infantile Enterocolitis:

# Genetic test Affiliating Genes
1 Autoinflammation with Infantile Enterocolitis 30 NLRC4

Anatomical Context for Autoinflammation with Infantile Enterocolitis

MalaCards organs/tissues related to Autoinflammation with Infantile Enterocolitis:

42
Bone, Heart, Nk Cells, Lung, Skin, Liver, Colon

Publications for Autoinflammation with Infantile Enterocolitis

Articles related to Autoinflammation with Infantile Enterocolitis:

# Title Authors Year
1
Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses. ( 30864118 )
2019
2
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. ( 25217960 )
2014
3
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. ( 25217959 )
2014

Variations for Autoinflammation with Infantile Enterocolitis

UniProtKB/Swiss-Prot genetic disease variations for Autoinflammation with Infantile Enterocolitis:

76
# Symbol AA change Variation ID SNP ID
1 NLRC4 p.Thr337Ser VAR_072484 rs587777840
2 NLRC4 p.Val341Ala VAR_072485 rs587781260

ClinVar genetic disease variations for Autoinflammation with Infantile Enterocolitis:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRC4 NM_001199138.1(NLRC4): c.928C> T (p.Arg310Ter) single nucleotide variant Uncertain significance rs199475953 GRCh37 Chromosome 2, 32476005: 32476005
2 NLRC4 NM_001199138.1(NLRC4): c.928C> T (p.Arg310Ter) single nucleotide variant Uncertain significance rs199475953 GRCh38 Chromosome 2, 32250936: 32250936
3 NLRC4 NM_021209.4(NLRC4): c.1022T> C (p.Val341Ala) single nucleotide variant Pathogenic rs587781260 GRCh37 Chromosome 2, 32475911: 32475911
4 NLRC4 NM_021209.4(NLRC4): c.1022T> C (p.Val341Ala) single nucleotide variant Pathogenic rs587781260 GRCh38 Chromosome 2, 32250842: 32250842
5 NLRC4 NM_001199138.1(NLRC4): c.1009A> T (p.Thr337Ser) single nucleotide variant Pathogenic rs587777840 GRCh37 Chromosome 2, 32475924: 32475924
6 NLRC4 NM_001199138.1(NLRC4): c.1009A> T (p.Thr337Ser) single nucleotide variant Pathogenic rs587777840 GRCh38 Chromosome 2, 32250855: 32250855
7 NLRC4 NM_021209.4(NLRC4): c.512C> T (p.Ser171Phe) single nucleotide variant Likely pathogenic rs1057518687 GRCh37 Chromosome 2, 32476421: 32476421
8 NLRC4 NM_021209.4(NLRC4): c.512C> T (p.Ser171Phe) single nucleotide variant Likely pathogenic rs1057518687 GRCh38 Chromosome 2, 32251352: 32251352
9 NLRC4 NM_021209.4(NLRC4): c.2740T> C (p.Leu914=) single nucleotide variant Benign/Likely benign rs34716166 GRCh37 Chromosome 2, 32460512: 32460512
10 NLRC4 NM_021209.4(NLRC4): c.2740T> C (p.Leu914=) single nucleotide variant Benign/Likely benign rs34716166 GRCh38 Chromosome 2, 32235443: 32235443
11 NLRC4 NM_021209.4(NLRC4): c.2357G> T (p.Gly786Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149451729 GRCh37 Chromosome 2, 32463365: 32463365
12 NLRC4 NM_021209.4(NLRC4): c.2357G> T (p.Gly786Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149451729 GRCh38 Chromosome 2, 32238296: 32238296
13 NLRC4 NM_021209.4(NLRC4): c.1542A> G (p.Gln514=) single nucleotide variant Benign rs35653927 GRCh37 Chromosome 2, 32475391: 32475391
14 NLRC4 NM_021209.4(NLRC4): c.1542A> G (p.Gln514=) single nucleotide variant Benign rs35653927 GRCh38 Chromosome 2, 32250322: 32250322
15 NLRC4 NM_021209.4(NLRC4): c.2785G> T (p.Ala929Ser) single nucleotide variant Benign rs61754192 GRCh37 Chromosome 2, 32449832: 32449832
16 NLRC4 NM_021209.4(NLRC4): c.2785G> T (p.Ala929Ser) single nucleotide variant Benign rs61754192 GRCh38 Chromosome 2, 32224763: 32224763
17 NLRC4 NM_021209.4(NLRC4): c.2426A> G (p.Asp809Gly) single nucleotide variant Uncertain significance rs937306605 GRCh37 Chromosome 2, 32463296: 32463296
18 NLRC4 NM_021209.4(NLRC4): c.2426A> G (p.Asp809Gly) single nucleotide variant Uncertain significance rs937306605 GRCh38 Chromosome 2, 32238227: 32238227
19 NLRC4 NM_021209.4(NLRC4): c.2945C> G (p.Ala982Gly) single nucleotide variant Likely benign rs147896952 GRCh38 Chromosome 2, 32224603: 32224603
20 NLRC4 NM_021209.4(NLRC4): c.2945C> G (p.Ala982Gly) single nucleotide variant Likely benign rs147896952 GRCh37 Chromosome 2, 32449672: 32449672
21 NLRC4 NM_021209.4(NLRC4): c.3052G> A (p.Ala1018Thr) single nucleotide variant Uncertain significance rs1438338245 GRCh38 Chromosome 2, 32224496: 32224496
22 NLRC4 NM_021209.4(NLRC4): c.3052G> A (p.Ala1018Thr) single nucleotide variant Uncertain significance rs1438338245 GRCh37 Chromosome 2, 32449565: 32449565
23 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh38 Chromosome 2, 32235456: 32235456
24 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh37 Chromosome 2, 32460525: 32460525
25 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign rs1553343121 GRCh38 Chromosome 2, 32235576: 32235576
26 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign rs1553343121 GRCh37 Chromosome 2, 32460645: 32460645
27 NLRC4 NM_021209.4(NLRC4): c.2256G> A (p.Pro752=) single nucleotide variant Likely benign rs139310294 GRCh37 Chromosome 2, 32474677: 32474677
28 NLRC4 NM_021209.4(NLRC4): c.2256G> A (p.Pro752=) single nucleotide variant Likely benign rs139310294 GRCh38 Chromosome 2, 32249608: 32249608
29 NLRC4 NM_021209.4(NLRC4): c.2668T> C (p.Cys890Arg) single nucleotide variant Benign rs544969923 GRCh38 Chromosome 2, 32235515: 32235515
30 NLRC4 NM_021209.4(NLRC4): c.2668T> C (p.Cys890Arg) single nucleotide variant Benign rs544969923 GRCh37 Chromosome 2, 32460584: 32460584
31 NLRC4 NM_021209.4(NLRC4): c.1015C> A (p.Leu339Ile) single nucleotide variant Uncertain significance rs1553347334 GRCh38 Chromosome 2, 32250849: 32250849
32 NLRC4 NM_021209.4(NLRC4): c.1015C> A (p.Leu339Ile) single nucleotide variant Uncertain significance rs1553347334 GRCh37 Chromosome 2, 32475918: 32475918
33 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh38 Chromosome 2, 32249617: 32249617
34 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh37 Chromosome 2, 32474686: 32474686
35 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh38 Chromosome 2, 32249994: 32249994
36 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh37 Chromosome 2, 32475063: 32475063
37 NLRC4 NM_021209.4(NLRC4): c.90G> A (p.Trp30Ter) single nucleotide variant Uncertain significance rs148696946 GRCh38 Chromosome 2, 32252591: 32252591
38 NLRC4 NM_021209.4(NLRC4): c.90G> A (p.Trp30Ter) single nucleotide variant Uncertain significance rs148696946 GRCh37 Chromosome 2, 32477660: 32477660
39 NLRC4 NM_021209.4(NLRC4): c.2350+9T> A single nucleotide variant Likely benign rs146103494 GRCh37 Chromosome 2, 32466093: 32466093
40 NLRC4 NM_021209.4(NLRC4): c.2350+9T> A single nucleotide variant Likely benign rs146103494 GRCh38 Chromosome 2, 32241024: 32241024
41 NLRC4 NM_021209.4(NLRC4): c.1683A> G (p.Leu561=) single nucleotide variant Benign rs148632046 GRCh38 Chromosome 2, 32250181: 32250181
42 NLRC4 NM_021209.4(NLRC4): c.1683A> G (p.Leu561=) single nucleotide variant Benign rs148632046 GRCh37 Chromosome 2, 32475250: 32475250
43 NLRC4 NM_021209.4(NLRC4): c.1248G> A (p.Val416=) single nucleotide variant Benign rs377140938 GRCh38 Chromosome 2, 32250616: 32250616
44 NLRC4 NM_021209.4(NLRC4): c.1248G> A (p.Val416=) single nucleotide variant Benign rs377140938 GRCh37 Chromosome 2, 32475685: 32475685
45 NLRC4 NM_021209.4(NLRC4): c.478G> A (p.Ala160Thr) single nucleotide variant Likely benign rs113631419 GRCh38 Chromosome 2, 32251386: 32251386
46 NLRC4 NM_021209.4(NLRC4): c.478G> A (p.Ala160Thr) single nucleotide variant Likely benign rs113631419 GRCh37 Chromosome 2, 32476455: 32476455
47 NLRC4 NM_021209.4(NLRC4): c.1474C> T (p.Arg492Trp) single nucleotide variant Uncertain significance rs1317272776 GRCh38 Chromosome 2, 32250390: 32250390
48 NLRC4 NM_021209.4(NLRC4): c.1474C> T (p.Arg492Trp) single nucleotide variant Uncertain significance rs1317272776 GRCh37 Chromosome 2, 32475459: 32475459
49 NLRC4 NM_021209.4(NLRC4): c.2968G> A (p.Val990Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 32224580: 32224580
50 NLRC4 NM_021209.4(NLRC4): c.2968G> A (p.Val990Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 32449649: 32449649

Expression for Autoinflammation with Infantile Enterocolitis

Search GEO for disease gene expression data for Autoinflammation with Infantile Enterocolitis.

Pathways for Autoinflammation with Infantile Enterocolitis

Pathways related to Autoinflammation with Infantile Enterocolitis according to KEGG:

38
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

GO Terms for Autoinflammation with Infantile Enterocolitis

Sources for Autoinflammation with Infantile Enterocolitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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