MCID: ATN011
MIFTS: 31

Autoinflammation with Infantile Enterocolitis

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

Aliases & Classifications for Autoinflammation with Infantile Enterocolitis

MalaCards integrated aliases for Autoinflammation with Infantile Enterocolitis:

Name: Autoinflammation with Infantile Enterocolitis 57 75 37 29 6 40 73
Enterocolitis 44 73
Aifec 57 75
Nlrc4-Related Autoinflammatory Syndrome with Macrophage Activation Syndrome 59
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome 59
Nlrc4-Related Infantile Enterocolitis-Autoinflammatory Syndrome 59
Nlrc4-Related Autoinflammatory Syndrome with Mas 59
Nlrc4-Related Macrophage Activation Syndrome 59
Nlrc4-Related Mas 59

Characteristics:

Orphanet epidemiological data:

59
periodic fever-infantile enterocolitis-autoinflammatory syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
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:

32
autoinflammation with infantile enterocolitis:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation with Infantile Enterocolitis

OMIM : 57 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 perinatal necrotizing enterocolitis and enterocolitis, and has symptoms including arthralgia, exanthema and myalgia. 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 nk cells, skin and bone, and related phenotypes are failure to thrive and splenomegaly

UniProtKB/Swiss-Prot : 75 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 168)
# Related Disease Score Top Affiliating Genes
1 perinatal necrotizing enterocolitis 12.6
2 enterocolitis 12.5
3 mastocytic enterocolitis 12.3
4 clostridium difficile colitis 11.5
5 short bowel syndrome 11.2
6 hypoganglionosis 11.1
7 hemolytic uremic syndrome, atypical 1 11.0
8 hirschsprung disease 1 10.8
9 5-oxoprolinase deficiency 10.8
10 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.8
11 hemolytic uremic syndrome, atypical 2 10.8
12 hemolytic uremic syndrome, atypical 3 10.8
13 hemolytic uremic syndrome, atypical 4 10.8
14 hemolytic uremic syndrome, atypical 5 10.8
15 hemolytic uremic syndrome, atypical 6 10.8
16 intestinal perforation 10.4
17 peritonitis 10.0
18 mucositis 10.0
19 aging 10.0
20 colitis 10.0
21 appendicitis 10.0
22 megacolon 9.9
23 diarrhea 9.9
24 leukemia 9.9
25 toxic megacolon 9.9
26 milk allergy 9.9
27 intussusception 9.8
28 hypoplastic left heart syndrome 1 9.8
29 acute leukemia 9.8
30 arthritis 9.8
31 hypoplastic left heart syndrome 9.8
32 inflammatory bowel disease 9.8
33 hypoxia 9.8
34 colonic atresia 9.8
35 patent ductus arteriosus 1 9.8
36 crohn's disease 9.8
37 hepatitis 9.8
38 protein-losing enteropathy 9.8
39 typhoid fever 9.8
40 hyperinsulinism 9.8
41 gastroenteritis 9.8
42 cocaine abuse 9.8
43 clostridium perfringens infection 9.8
44 clostridium septicum infection 9.8
45 cytomegalovirus infection 9.8
46 endotheliitis 9.8
47 lung cancer 9.7
48 gastroschisis 9.7
49 leukemia, acute myeloid 9.7
50 polyarteritis nodosa, childhood-onset 9.7

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Growth Height:
short stature

Metabolic Features:
fever, episodic

Skeletal:
arthralgias

Skin Nails Hair Skin:
rash

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

AbdomenSpleen:
splenomegaly

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

Muscle Soft Tissue:
myalgias

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

Hematology:
disseminated intravascular coagulation, episodic
pancytopenia, episodic


Clinical features from OMIM:

616050

Human phenotypes related to Autoinflammation with Infantile Enterocolitis:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 splenomegaly 32 HP:0001744
3 short stature 32 HP:0004322
4 fever 32 HP:0001945
5 arthralgia 32 HP:0002829
6 pancytopenia 32 HP:0001876
7 myalgia 32 HP:0003326
8 skin rash 32 HP:0000988
9 increased serum ferritin 32 HP:0003281
10 enterocolitis 32 HP:0004387
11 disseminated intravascular coagulation 32 HP:0005521

UMLS symptoms related to Autoinflammation with Infantile Enterocolitis:


arthralgia, exanthema, myalgia, 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 29 NLRC4

Anatomical Context for Autoinflammation with Infantile Enterocolitis

MalaCards organs/tissues related to Autoinflammation with Infantile Enterocolitis:

41
Nk Cells, Skin, Bone

Publications for Autoinflammation with Infantile Enterocolitis

Variations for Autoinflammation with Infantile Enterocolitis

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

75
# 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 all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRC4 NM_021209.4(NLRC4): c.1022T> C (p.Val341Ala) single nucleotide variant Pathogenic rs587781260 GRCh37 Chromosome 2, 32475911: 32475911
2 NLRC4 NM_021209.4(NLRC4): c.1022T> C (p.Val341Ala) single nucleotide variant Pathogenic rs587781260 GRCh38 Chromosome 2, 32250842: 32250842
3 NLRC4 NM_001199138.1(NLRC4): c.1009A> T (p.Thr337Ser) single nucleotide variant Pathogenic rs587777840 GRCh37 Chromosome 2, 32475924: 32475924
4 NLRC4 NM_001199138.1(NLRC4): c.1009A> T (p.Thr337Ser) single nucleotide variant Pathogenic rs587777840 GRCh38 Chromosome 2, 32250855: 32250855
5 NLRC4 NM_021209.4(NLRC4): c.512C> T (p.Ser171Phe) single nucleotide variant Likely pathogenic rs1057518687 GRCh37 Chromosome 2, 32476421: 32476421
6 NLRC4 NM_021209.4(NLRC4): c.512C> T (p.Ser171Phe) single nucleotide variant Likely pathogenic rs1057518687 GRCh38 Chromosome 2, 32251352: 32251352
7 NLRC4 NM_021209.4(NLRC4): c.2740T> C (p.Leu914=) single nucleotide variant Benign/Likely benign rs34716166 GRCh37 Chromosome 2, 32460512: 32460512
8 NLRC4 NM_021209.4(NLRC4): c.2740T> C (p.Leu914=) single nucleotide variant Benign/Likely benign rs34716166 GRCh38 Chromosome 2, 32235443: 32235443
9 NLRC4 NM_021209.4(NLRC4): c.2357G> T (p.Gly786Val) single nucleotide variant Benign rs149451729 GRCh37 Chromosome 2, 32463365: 32463365
10 NLRC4 NM_021209.4(NLRC4): c.2357G> T (p.Gly786Val) single nucleotide variant Benign rs149451729 GRCh38 Chromosome 2, 32238296: 32238296
11 NLRC4 NM_021209.4(NLRC4): c.1542A> G (p.Gln514=) single nucleotide variant Benign rs35653927 GRCh38 Chromosome 2, 32250322: 32250322
12 NLRC4 NM_021209.4(NLRC4): c.1542A> G (p.Gln514=) single nucleotide variant Benign rs35653927 GRCh37 Chromosome 2, 32475391: 32475391
13 NLRC4 NM_021209.4(NLRC4): c.2785G> T (p.Ala929Ser) single nucleotide variant Benign rs61754192 GRCh37 Chromosome 2, 32449832: 32449832
14 NLRC4 NM_021209.4(NLRC4): c.2785G> T (p.Ala929Ser) single nucleotide variant Benign rs61754192 GRCh38 Chromosome 2, 32224763: 32224763
15 NLRC4 NM_021209.4(NLRC4): c.2426A> G (p.Asp809Gly) single nucleotide variant Uncertain significance rs937306605 GRCh37 Chromosome 2, 32463296: 32463296
16 NLRC4 NM_021209.4(NLRC4): c.2426A> G (p.Asp809Gly) single nucleotide variant Uncertain significance rs937306605 GRCh38 Chromosome 2, 32238227: 32238227
17 NLRC4 NM_021209.4(NLRC4): c.2945C> G (p.Ala982Gly) single nucleotide variant Likely benign rs147896952 GRCh38 Chromosome 2, 32224603: 32224603
18 NLRC4 NM_021209.4(NLRC4): c.2945C> G (p.Ala982Gly) single nucleotide variant Likely benign rs147896952 GRCh37 Chromosome 2, 32449672: 32449672
19 NLRC4 NM_021209.4(NLRC4): c.3052G> A (p.Ala1018Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 32224496: 32224496
20 NLRC4 NM_021209.4(NLRC4): c.3052G> A (p.Ala1018Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 32449565: 32449565
21 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh38 Chromosome 2, 32235456: 32235456
22 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh37 Chromosome 2, 32460525: 32460525
23 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign GRCh38 Chromosome 2, 32235576: 32235576
24 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign GRCh37 Chromosome 2, 32460645: 32460645
25 NLRC4 NM_021209.4(NLRC4): c.2256G> A (p.Pro752=) single nucleotide variant Likely benign rs139310294 GRCh37 Chromosome 2, 32474677: 32474677
26 NLRC4 NM_021209.4(NLRC4): c.2256G> A (p.Pro752=) single nucleotide variant Likely benign rs139310294 GRCh38 Chromosome 2, 32249608: 32249608
27 NLRC4 NM_021209.4(NLRC4): c.2668T> C (p.Cys890Arg) single nucleotide variant Benign rs544969923 GRCh38 Chromosome 2, 32235515: 32235515
28 NLRC4 NM_021209.4(NLRC4): c.2668T> C (p.Cys890Arg) single nucleotide variant Benign rs544969923 GRCh37 Chromosome 2, 32460584: 32460584
29 NLRC4 NM_021209.4(NLRC4): c.1015C> A (p.Leu339Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 32250849: 32250849
30 NLRC4 NM_021209.4(NLRC4): c.1015C> A (p.Leu339Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 32475918: 32475918
31 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh38 Chromosome 2, 32249617: 32249617
32 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh37 Chromosome 2, 32474686: 32474686
33 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh38 Chromosome 2, 32249994: 32249994
34 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh37 Chromosome 2, 32475063: 32475063
35 NLRC4 NM_021209.4(NLRC4): c.90G> A (p.Trp30Ter) single nucleotide variant Uncertain significance rs148696946 GRCh37 Chromosome 2, 32477660: 32477660
36 NLRC4 NM_021209.4(NLRC4): c.90G> A (p.Trp30Ter) single nucleotide variant Uncertain significance rs148696946 GRCh38 Chromosome 2, 32252591: 32252591
37 NLRC4 NM_021209.4(NLRC4): c.2350+9T> A single nucleotide variant Likely benign rs146103494 GRCh37 Chromosome 2, 32466093: 32466093
38 NLRC4 NM_021209.4(NLRC4): c.2350+9T> A single nucleotide variant Likely benign rs146103494 GRCh38 Chromosome 2, 32241024: 32241024
39 NLRC4 NM_021209.4(NLRC4): c.1683A> G (p.Leu561=) single nucleotide variant Benign rs148632046 GRCh38 Chromosome 2, 32250181: 32250181
40 NLRC4 NM_021209.4(NLRC4): c.1683A> G (p.Leu561=) single nucleotide variant Benign rs148632046 GRCh37 Chromosome 2, 32475250: 32475250
41 NLRC4 NM_021209.4(NLRC4): c.1248G> A (p.Val416=) single nucleotide variant Benign rs377140938 GRCh37 Chromosome 2, 32475685: 32475685
42 NLRC4 NM_021209.4(NLRC4): c.1248G> A (p.Val416=) single nucleotide variant Benign rs377140938 GRCh38 Chromosome 2, 32250616: 32250616
43 NLRC4 NM_021209.4(NLRC4): c.478G> A (p.Ala160Thr) single nucleotide variant Likely benign rs113631419 GRCh38 Chromosome 2, 32251386: 32251386
44 NLRC4 NM_021209.4(NLRC4): c.478G> A (p.Ala160Thr) single nucleotide variant Likely benign rs113631419 GRCh37 Chromosome 2, 32476455: 32476455

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:

37
# 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 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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