AIFEC
MCID: ATN011
MIFTS: 42

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 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 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 heart, nk cells and colon, 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 213)
# Related Disease Score Top Affiliating Genes
1 enterocolitis 33.6 NLRC4 SLC30A6
2 perinatal necrotizing enterocolitis 12.8
3 mastocytic enterocolitis 12.4
4 clostridium difficile colitis 11.6
5 short bowel syndrome 11.3
6 hirschsprung disease 1 11.3
7 hypoganglionosis 11.3
8 hemolytic uremic syndrome, atypical 1 11.1
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 colitis 10.2
18 diarrhea 10.2
19 appendicitis 10.2
20 heart disease 10.1
21 inflammatory bowel disease 10.1
22 milk allergy 10.1
23 megacolon 10.0
24 ischemia 10.0
25 hypoxia 10.0
26 intussusception 10.0
27 hypoplastic left heart syndrome 1 10.0
28 arthritis 10.0
29 crohn's disease 10.0
30 hypoplastic left heart syndrome 10.0
31 leukemia 10.0
32 toxic megacolon 10.0
33 cytomegalovirus infection 10.0
34 leukemia, acute myeloid 9.9
35 patent ductus arteriosus 1 9.9
36 peritonitis 9.9
37 mucormycosis 9.9
38 myeloid leukemia 9.9
39 down syndrome 9.9
40 lung cancer 9.9
41 colonic atresia 9.9
42 acute leukemia 9.9
43 gas gangrene 9.9
44 liver disease 9.9
45 protein-losing enteropathy 9.9
46 typhoid fever 9.9
47 hyperinsulinism 9.9
48 gastroenteritis 9.9
49 food allergy 9.9
50 reactive arthritis 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

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

Abdomen Spleen:
splenomegaly

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

Muscle Soft Tissue:
myalgias

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

Hematology:
disseminated intravascular coagulation, episodic
pancytopenia, episodic


Clinical features from OMIM:

616050

Human phenotypes related to Autoinflammation with Infantile Enterocolitis:

32 (show all 12)
# 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
12 secretory diarrhea 32 HP:0005208

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 29 NLRC4

Anatomical Context for Autoinflammation with Infantile Enterocolitis

MalaCards organs/tissues related to Autoinflammation with Infantile Enterocolitis:

41
Heart, Nk Cells, Colon, Bone, Kidney, Myeloid, Lung

Publications for Autoinflammation with Infantile Enterocolitis

Articles related to Autoinflammation with Infantile Enterocolitis:

(show top 50) (show all 815)
# Title Authors Year
1
Hydrogen Sulfide Donor GYY4137 Acts Through Endothelial Nitric Oxide to Protect Intestine in Murine Models of Necrotizing Enterocolitis and Intestinal Ischemia. ( 30527488 )
2019
2
Role of delayed cord clamping in prevention of necrotizing enterocolitis in preterm neonates: a systematic review. ( 28826265 )
2019
3
Suspicious Yersinia granulomatous enterocolitis mimicking appendicitis. ( 30323099 )
2018
4
Necrotizing enterocolitis and appendicitis in preterm infants. ( 30048607 )
2018
5
Intestinal failure associated cholestasis in surgical necrotizing enterocolitis and spontaneous intestinal perforation. ( 30413273 )
2018
6
Clinical characteristic comparison of low birth weight and very low birth weight preterm infants with neonatal necrotizing enterocolitis: a single tertiary center experience from eastern China. ( 30128701 )
2018
7
Enterocolitis due to immune checkpoint inhibitors: a systematic review. ( 30131322 )
2018
8
Neonatal intestinal dysbiosis in necrotizing enterocolitis. ( 30134786 )
2018
9
Eosinophilic enterocolitis: A case report and literature review. ( 30139591 )
2018
10
Targeted LC-MS/MS for the evaluation of proteomics biomarkers in the blood of neonates with necrotizing enterocolitis and late-onset sepsis. ( 30141021 )
2018
11
Enteral feeding composition and necrotizing enterocolitis. ( 30143341 )
2018
12
Necrotizing Enterocolitis and Neurodevelopmental Outcome. ( 30144849 )
2018
13
The cost of necrotizing enterocolitis in premature infants. ( 30145059 )
2018
14
Neurodevelopmental outcomes following necrotizing enterocolitis. ( 30145060 )
2018
15
Innate and adaptive immunity in necrotizing enterocolitis. ( 30146477 )
2018
16
Retrospective case-control study of necrotizing enterocolitis and packed red blood cell transfusions in very low birth weight infants. ( 30149467 )
2018
17
Prophylactic lactoferrin for preventing late-onset sepsis and necrotizing enterocolitis in preterm infants: A PRISMA-compliant systematic review and meta-analysis. ( 30170397 )
2018
18
Necrotizing enterocolitis: The intestinal microbiome, metabolome and inflammatory mediators. ( 30172660 )
2018
19
Methicillin-Resistant Staphylococcus aureus as a Probable Cause of Antibiotic-Associated Enterocolitis. ( 30174968 )
2018
20
Fat composition in infant formula contributes to the severity of necrotising enterocolitis. ( 30176959 )
2018
21
Surgical considerations for neonates with necrotizing enterocolitis. ( 30196017 )
2018
22
Interleukin-6 serum levels predict surgical intervention in infants with necrotizing enterocolitis. ( 30213531 )
2018
23
Intestinal microcirculation and necrotizing enterocolitis: The vascular endothelial growth factor system. ( 30213591 )
2018
24
Avocado as an emerging trigger for food protein-induced enterocolitis syndrome. ( 30220295 )
2018
25
Potential role of stem cells in disease prevention based on a murine model of experimental necrotizing enterocolitis. ( 30236604 )
2018
26
Prevention and management of recurrent postoperative Hirschsprung's disease obstructive symptoms and enterocolitis: Systematic review and meta-analysis. ( 30236605 )
2018
27
Validation of the diagnosis of necrotising enterocolitis in a Swedish population-based observational study. ( 30238614 )
2018
28
Treatment of refractory mastocytic enterocolitis with budesonide. ( 30240478 )
2018
29
Probiotics and the prevention of necrotizing enterocolitis. ( 30241961 )
2018
30
Food Protein-Induced Enterocolitis Syndrome Food Challenges: Experience from a Large Referral Center. ( 30243880 )
2018
31
Food protein-induced enterocolitis syndrome: Increased prevalence of this great unknown-results of the PREVALE study. ( 30244024 )
2018
32
Loss of murine Paneth cell function alters the immature intestinal microbiome and mimics changes seen in neonatal necrotizing enterocolitis. ( 30273395 )
2018
33
Deep analysis of immune response and metabolic signature in children with food protein induced enterocolitis to cow's milk. ( 30275944 )
2018
34
Necrotizing enterocolitis. ( 30279063 )
2018
35
Effects of maturation and size on population pharmacokinetics of pentoxifylline and its metabolites in very preterm infants with suspected late-onset sepsis or necrotizing enterocolitis: a pilot study incorporating clinical outcomes. ( 30281170 )
2018
36
Comparative Effectiveness of Prophylactic Therapies for Necrotizing Enterocolitis in Preterm Infants: Protocol for a Network Meta-analysis of Randomized Trials. ( 30283615 )
2018
37
Prostaglandin E-major urinary metabolite as a noninvasive surrogate marker for infantile necrotizing enterocolitis. ( 30291024 )
2018
38
Low rate of necrotizing enterocolitis in extremely low birth weight infants using a hospital-based preterm milk bank. ( 30291318 )
2018
39
Genetic predisposition to necrotizing enterocolitis in premature infants: Current knowledge, challenges, and future directions. ( 30292709 )
2018
40
Human Milk Oligosaccharides to Prevent Gut Dysfunction and Necrotizing Enterocolitis in Preterm Neonates. ( 30297668 )
2018
41
Necrotizing enterocolitis attenuates developmental heart rate variability increases in newborn rats. ( 30298607 )
2018
42
Infliximab associated with faster symptom resolution compared with corticosteroids alone for the management of immune-related enterocolitis. ( 30305177 )
2018
43
FTY720 attenuates intestinal injury and suppresses inflammation in experimental necrotizing enterocolitis via modulating CXCL5/CXCR2 axis. ( 30314693 )
2018
44
Feeding preterm infants with formula rather than donor breast milk is associated with faster rates of short-term growth, but increased risk of developing necrotising enterocolitis. ( 30315005 )
2018
45
Cooking influence in tolerance acquisition in egg-induced acute food protein enterocolitis syndrome. ( 30316559 )
2018
46
Food Protein-Induced Enterocolitis Syndrome: Data from a Multicenter Retrospective Study in Spain. ( 30320669 )
2018
47
Is avocado an emerging culprit in food protein-induced enterocolitis syndrome? ( 30326325 )
2018
48
Severe acute radiation-induced enterocolitis after combined palbociclib and palliative radiotherapy treatment. ( 30336956 )
2018
49
Physical examination score predicts need for surgery in neonates with necrotizing enterocolitis. ( 30337731 )
2018
50
Pneumoscrotum as a presentation of necrotising enterocolitis. ( 30344161 )
2018

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 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 GRCh38 Chromosome 2, 32224496: 32224496
22 NLRC4 NM_021209.4(NLRC4): c.3052G> A (p.Ala1018Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 32449565: 32449565
23 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh37 Chromosome 2, 32460525: 32460525
24 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh38 Chromosome 2, 32235456: 32235456
25 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign GRCh38 Chromosome 2, 32235576: 32235576
26 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign 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 GRCh38 Chromosome 2, 32250849: 32250849
32 NLRC4 NM_021209.4(NLRC4): c.1015C> A (p.Leu339Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 32475918: 32475918
33 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh37 Chromosome 2, 32474686: 32474686
34 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh38 Chromosome 2, 32249617: 32249617
35 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh37 Chromosome 2, 32475063: 32475063
36 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh38 Chromosome 2, 32249994: 32249994
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 GRCh38 Chromosome 2, 32241024: 32241024
40 NLRC4 NM_021209.4(NLRC4): c.2350+9T> A single nucleotide variant Likely benign rs146103494 GRCh37 Chromosome 2, 32466093: 32466093
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 GRCh37 Chromosome 2, 32476455: 32476455
46 NLRC4 NM_021209.4(NLRC4): c.478G> A (p.Ala160Thr) single nucleotide variant Likely benign rs113631419 GRCh38 Chromosome 2, 32251386: 32251386
47 NLRC4 NM_021209.4(NLRC4): c.1474C> T (p.Arg492Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 32250390: 32250390
48 NLRC4 NM_021209.4(NLRC4): c.1474C> T (p.Arg492Trp) single nucleotide variant Uncertain significance 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:

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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