AIFEC
MCID: ATN011
MIFTS: 43

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 56 73 36 29 6 39 71
Enterocolitis 43 71
Aifec 56 73
Nlrc4-Related Autoinflammatory Syndrome with Macrophage Activation Syndrome 58
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome 58
Nlrc4-Related Infantile Enterocolitis-Autoinflammatory Syndrome 58
Nlrc4-Related Autoinflammatory Syndrome with Mas 58
Nlrc4-Related Macrophage Activation Syndrome 58
Nlrc4-Related Mas 58

Characteristics:

Orphanet epidemiological data:

58
periodic fever-infantile enterocolitis-autoinflammatory syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
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:

31
autoinflammation with infantile enterocolitis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare systemic and rhumatological diseases


External Ids:

OMIM 56 616050
KEGG 36 H01748
ICD10 via Orphanet 33 E85.0
Orphanet 58 ORPHA436166
UMLS 71 C0014356 C4015067

Summaries for Autoinflammation with Infantile Enterocolitis

OMIM : 56 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 mastocytic 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. The drugs Ceftriaxone and Adalimumab have been mentioned in the context of this disorder. Affiliated tissues include heart, colon and lung, and related phenotypes are failure to thrive and splenomegaly

KEGG : 36 Autoinflammation with infantile enterocolitis (AIFEC) is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18.

UniProtKB/Swiss-Prot : 73 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 552)
# Related Disease Score Top Affiliating Genes
1 perinatal necrotizing enterocolitis 12.9
2 mastocytic enterocolitis 12.6
3 clostridium difficile colitis 11.9
4 short bowel syndrome 11.7
5 hirschsprung disease 1 11.6
6 inflammatory bowel disease 11.5
7 patent ductus arteriosus 1 11.5
8 hypoganglionosis 11.5
9 hemolytic uremic syndrome, atypical 1 11.3
10 5-oxoprolinase deficiency 11.1
11 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.1
12 hemolytic uremic syndrome, atypical 2 11.1
13 hemolytic uremic syndrome, atypical 3 11.1
14 hemolytic uremic syndrome, atypical 4 11.1
15 hemolytic uremic syndrome, atypical 5 11.1
16 hemolytic uremic syndrome, atypical 6 11.1
17 diarrhea 10.8
18 intestinal perforation 10.7
19 neutropenia 10.6
20 food allergy 10.6
21 peritonitis 10.6
22 crohn's disease 10.5
23 colitis 10.5
24 intestinal disease 10.5
25 gastroenteritis 10.4
26 intestinal obstruction 10.4
27 ileus 10.4
28 overgrowth syndrome 10.4
29 ulcerative colitis 10.4
30 acute leukemia 10.4
31 appendicitis 10.4
32 thrombocytopenia 10.3
33 heart disease 10.3
34 metabolic acidosis 10.3
35 leukemia 10.3
36 vasculitis 10.3
37 chorioamnionitis 10.3
38 megacolon 10.3
39 dysentery 10.3
40 toxic shock syndrome 10.3
41 intussusception 10.3
42 pre-eclampsia 10.3
43 cholestasis 10.3
44 cytokine deficiency 10.3
45 lymphocytic leukemia 10.3
46 gastrointestinal system disease 10.3
47 48,xyyy 10.3
48 ileitis 10.2
49 disseminated intravascular coagulation 10.2
50 granulocytopenia 10.2

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 splenomegaly 31 HP:0001744
3 short stature 31 HP:0004322
4 fever 31 HP:0001945
5 arthralgia 31 HP:0002829
6 pancytopenia 31 HP:0001876
7 skin rash 31 HP:0000988
8 myalgia 31 HP:0003326
9 increased serum ferritin 31 HP:0003281
10 disseminated intravascular coagulation 31 HP:0005521
11 enterocolitis 31 HP:0004387
12 secretory diarrhea 31 HP:0005208

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Growth Height:
short stature

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

Metabolic Features:
fever, episodic

Skeletal:
arthralgias

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

Skin Nails Hair Skin:
rash

Muscle Soft Tissue:
myalgias

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

Drugs for Autoinflammation with Infantile Enterocolitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 241)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
2
Adalimumab Approved Phase 4 331731-18-1 16219006
3
Fidaxomicin Approved Phase 4 873857-62-6
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
6
Histamine Approved, Investigational Phase 4 51-45-6 774
7
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
8
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
9
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
10
Zinc Approved, Investigational Phase 4 7440-66-6 32051
11
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
12
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
13 Poractant alfa Approved Phase 4 129069-19-8
14
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
15 Beractant Approved Phase 4 108778-82-1
16
Sorbitol Approved Phase 4 50-70-4 5780
17 Coconut Approved Phase 4
18
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
20
Beta carotene Approved, Nutraceutical Phase 4 7235-40-7
21
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
23 Tocotrienol Investigational Phase 4 6829-55-6
24 Immunoglobulins Phase 4
25 Antibodies Phase 4
26 Immunologic Factors Phase 4
27 Immunoglobulins, Intravenous Phase 4
28 Rho(D) Immune Globulin Phase 4
29 gamma-Globulins Phase 4
30 Antioxidants Phase 4
31 Protective Agents Phase 4
32 Antibiotics, Antitubercular Phase 4
33 Antitubercular Agents Phase 4
34 Carotenoids Phase 4
35 Antiemetics Phase 4
36 BB 1101 Phase 4
37 Ergocalciferols Phase 4
38 Antineoplastic Agents, Hormonal Phase 4
39 Calciferol Phase 4
40
Picolinic acid Phase 4 98-98-6 1018
41 Provitamins Phase 4
42 Vitamin D2 Phase 4
43 Anti-Ulcer Agents Phase 4
44 Bismuth tripotassium dicitrate Phase 4
45 Histamine H2 Antagonists Phase 4
46
Histamine Phosphate Phase 4 51-74-1 65513
47 Histamine Antagonists Phase 4
48
Bismuth Phase 4 7440-69-9 16682734 105143
49 Ranitidine bismuth citrate Phase 4
50 Antacids Phase 4

Interventional clinical trials:

(show top 50) (show all 420)
# Name Status NCT ID Phase Drugs
1 The Role of Short-course Ceftriaxone Therapy in the Treatment of Severe Nontyphoidal Salmonella Enterocolitis Unknown status NCT01278017 Phase 4 ceftriaxone
2 The Effect of Withholding Feeds During Red Blood Cell Transfusion on Development of TRAGI in Very Low Birth Weight Infants Unknown status NCT02132819 Phase 4
3 The Effect of Probiotics on the Rate of Recovery of Inflammatory Bowel Disease Exacerbation (Crohn's Disease) and Markers of Inflammation Unknown status NCT01765998 Phase 4 Probiotic;Placebo
4 THE EFFECT OF SUSTAINED LUNG INFLATION MANEUVER APPLIED THROUGH NASAL PRONG ON EARLY AND LATE RESPIRATORY MORBIDITIES IN PRETERM INFANTS Unknown status NCT02887924 Phase 4
5 Gut-kidney Axis: Renal Effects of Meditarranean Diet and Low-protein Diet With Ketoacids to Restore Physiological Intestinal Mibrobiota in Chronic Kidney Disease Unknown status NCT02302287 Phase 4
6 Postmarketing Study of Probiotics Medication in Childhood Diarrhea Completed NCT00463190 Phase 4 Biothree
7 Systematic Randomized , Single Blinded, Placebo-Controlled Trial of Early Versus Late Lactoferrin in Prevention of Neonatal Sepsis Completed NCT02959229 Phase 4 Lactoferrin;Placebo (for Lactoferrin)
8 A Randomized Trial to Evaluate the Use of Plastic Bags in Preventing and Treating Hypothermia in Neonates in Developing Countries Completed NCT01403623 Phase 4
9 Randomized Evaluation of the Use of Plastic Bags to Prevent Neonatal Hypothermia in Developing Countries-Part IV Completed NCT01604447 Phase 4
10 A Randomized Double-Blinded Study Comparing the Impact of One Versus Two Courses of Antenatal Steroids on Neonatal Outcome Completed NCT00201643 Phase 4 Betamethasone or Dexamethasone (2nd course of ACS);Placebo
11 Intestinal Inflammation in Ankylosing Spondylitis Assessed by Fecal Calprotectin, Capsular Endoscopy and Colonoscopy and the Effects of Adalimumab on Mucosal Healing Completed NCT01174186 Phase 4 Adalimumab
12 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
13 Exploratory Study of Impact of Oral Metronidazole, Vancomycin and Fidaxomicin on the Extent and Quantity of Host Carriage and Environmental Contamination With C. Difficile Completed NCT02057198 Phase 4 Fidaxomicin;Metronidazole;Vancomycin
14 Phase 4 Study of Use of High-dose Intravenous Immune Globulin for Prevent Hyperbilirubinemia Due Rh Hemolytic Disease in Newborns Infants Completed NCT00288600 Phase 4 Intravenous Immunoglobulin;Normal saline solution
15 Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis Recruiting NCT02343562 Phase 4
16 The Effect of Co-administered β-Carotene, Vitamin D3, Zinc and Antenatal Steroid Therapy on Hyaline Membrane Disease and Feeding Intolerance in Premature Neonates Recruiting NCT03366584 Phase 4 Dexamethasone
17 Early Sodium Intake in Preterm Newborns; Randomized Clinical Trial Recruiting NCT04035564 Phase 4 Sodium < 1mEq/kg/day;Sodium 5mEq/kg/day
18 Stress Ulcer Prophylaxis Versus Placebo - a Blinded Randomized Control Trial to Evaluate the Safety of Two Strategies in Critically Ill Infants With Congenital Heart Disease Recruiting NCT03667703 Phase 4 Ranitidine;Placebo
19 Multicentre Randomised Controlled Trial of Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on Continuous Positive Airways Pressure Recruiting NCT02140580 Phase 4
20 Effect of Lactobacillus Reuteri DSM 17938 to Prevent Antibiotic-associated Diarrhea in Children: Prospective, Multi-center, Randomize, Parallel Group Placebo Controlled Clinical Trial Recruiting NCT02765217 Phase 4 Lactobacillus reuteri DSM 17938;Placebo;Amoxicillin-Clavulanic Acid
21 Oral Zinc Supplementation Improving Growth and Reducing Morbidity on Very Low Birth Weight Infant Not yet recruiting NCT04050488 Phase 4 Zinc Sulfate;Placebos
22 NICU Antibiotics and Outcomes Trial Not yet recruiting NCT03997266 Phase 4 Ampicillin;Gentamycin;Normal saline
23 Personalized Versus Standardized Parenteral Nutrition for Preterm Infants With a Birth Weight Greater Than 1250 Grams: a Multicenter Randomized Phase IV Clinical Trial Not yet recruiting NCT03693287 Phase 4 Standardized-parenteral nutrition (S-PN);Personalized-parenteral nutrition (P-PN)
24 The Role of Synbiotics in Reducing Post-Operative Infections in Patients Undergoing Cardiac Surgery: A Pilot Study Terminated NCT00164099 Phase 4 Synbiotic 2000
25 Impact of Early Postnatal Sodium Supplementation on Weight Gain in Very Low Birth Weight Infants Terminated NCT01795638 Phase 4 Sodium chloride;Placebo
26 Phase 4 Study of Curosurf (Poractant) and Survanta (Beractant) Surfactant Treatment in Very Premature Infants With Respiratory Distress Syndrome. Terminated NCT00767039 Phase 4 Survanta (beractant);Curosurf (poractant)
27 Effects of the Use of a Bottle and a Cup on Breast Sucking Patterns of Premature Infants: Safety and Efficacy Terminated NCT00703950 Phase 4
28 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
29 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
30 Addition of a Probiotic (Lactobacillus GG) to Metronidazole for the Treatment of Clostridium Difficile Associated Disease Withdrawn NCT00304863 Phase 4 Lactobacillus GG
31 A Pilot Study to Compare the Use of Fresh Frozen Plasma With 24-Hour Plasma in Babies Up to Age Six Months Withdrawn NCT02774317 Phase 4
32 A Randomised Controlled Trial Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus In Very Premature Infants Withdrawn NCT00470743 Phase 4 Ibuprofen;Indomethacin
33 Role Of Saccharomyces Boulardii in Preventin Necrotizing Enterocolitis in Very Low Birth Weight Infants Unknown status NCT01315821 Phase 3 Saccharomyces boulardii;Placebo
34 Efficacy and Safety of Probiotics in Neonatal Hyperbilirubinemia Unknown status NCT03266913 Phase 3 Probiotic
35 Nasal Intermittent Mandatory Ventilation Versus Continuous Positive Airway Pressure After Extubation of Very Low Birth Weight Infants of the NEOCOSUR Network. Unknown status NCT01778829 Phase 3
36 Evaluation of the Role of Vaginal Progesterone in Prevention of Preterm Labor in Twin Gestation With Short Cervix: Randomised Controlled Trial Unknown status NCT02697331 Phase 3 Progesterone
37 Effect of Cysteine Supplementation on Glutathione Production in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
38 Role Of Lactobacillus Reuteri in Preventing Necrotizing Enterocolitis in Very Low Birth Weight Infants Completed NCT01531179 Phase 3 Lactobacillus reuteri;Placebo
39 A Randomized, Double-Blind Study of GT267-004 Versus Vancomycin, and GT267-004 Versus Metronidazole, in Patients With C.Difficile - Associated Diarrhea Completed NCT00106509 Phase 3 tolevamer potassium-sodium (GT267-004)
40 A Randomized, Double-Blind Study of GT267-004 Versus Vancomycin, and GT267-004 Versus Metronidazole in Patients With C. Difficile-Associated Diarrhea Completed NCT00196794 Phase 3 Tolevamer potassium-sodium (GT267-004)
41 The Efficacy of Symbiotic Preparation on Cytokines Which Act on Necrotising Enterocolitis Pathogenesis in Very Low Birth Weight Infants Completed NCT01899677 Phase 3 symbiotic
42 Role of Probiotics for Prevention of Necrotizing Enterocolitis in Preterm Very Low Birth Weight Infants: A Double Blind Randomized Controlled Trial Completed NCT02650869 Phase 3
43 Effect of Vitamin A in the Treatment of Sepsis and Necrotizing Enterocolitis in Hospitalized Neonates Completed NCT00707785 Phase 3
44 Nosocomial Infections and Necrotizing Enterocolitis in Preterm Neonates Treated With Lactobacillus Acidophilus and Bifidobacterium Infantis in An Intensive Care Unit : A Randomized Controlled Study Completed NCT01340469 Phase 3
45 Prospective, Randomized Study of Oral Metronidazole vs. Oral Metronidazole and Rifampin for Treatment of Clostridium Difficile-associated Diarrhea (CDAD) Completed NCT00182429 Phase 3 Metronidazole and Rifampin
46 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
47 A Prospective, Multi-center, Randomized Trial of Fecal Microbiota Transplantation (FMT) Delivered by Capsule vs Colonoscopy in the Management of Recurrent Clostridium Difficile Infection (CDI) Completed NCT02254811 Phase 2, Phase 3
48 Compassionate Use of Nitazoxanide for the Treatment of Clostridium Difficile Colitis in Patients Who Have Failed Conventional Therapy Completed NCT00304356 Phase 3 Nitazoxanide
49 The Use of Probiotics in the Management of Necrotizing Enterocolitis in HIV-exposed Premature and Very-low Birth Weight Infants Completed NCT01868737 Phase 3
50 Progesterone Vaginal Pessary for Prevention of Preterm Twin Birth Completed NCT02350231 Phase 2, Phase 3 The progesterone vaginal pessary;Tonics group

Search 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:

40
Heart, Colon, Lung, Breast, Liver, Bone, Neutrophil

Publications for Autoinflammation with Infantile Enterocolitis

Articles related to Autoinflammation with Infantile Enterocolitis:

# Title Authors PMID Year
1
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. 56 6
25217959 2014
2
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. 56 6
25217960 2014
3
Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses. 61
30864118 2019
4
NLRC4 inflammasomopathies. 61
28957823 2017

Variations for Autoinflammation with Infantile Enterocolitis

ClinVar genetic disease variations for Autoinflammation with Infantile Enterocolitis:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRC4 NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala)SNV Pathogenic 143224 rs587781260 2:32475911-32475911 2:32250842-32250842
2 NLRC4 NM_001199138.2(NLRC4):c.1009A>T (p.Thr337Ser)SNV Pathogenic 156462 rs587777840 2:32475924-32475924 2:32250855-32250855
3 NLRC4 NM_001199138.2(NLRC4):c.512C>T (p.Ser171Phe)SNV Likely pathogenic 374310 rs1057518687 2:32476421-32476421 2:32251352-32251352
4 NLRC4 NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)SNV Conflicting interpretations of pathogenicity 475252 rs149451729 2:32463365-32463365 2:32238296-32238296
5 NLRC4 NM_001199138.2(NLRC4):c.2426A>G (p.Asp809Gly)SNV Uncertain significance 475253 rs937306605 2:32463296-32463296 2:32238227-32238227
6 NLRC4 NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr)SNV Uncertain significance 542041 rs1438338245 2:32449565-32449565 2:32224496-32224496
7 NLRC4 NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)SNV Uncertain significance 103085 rs199475953 2:32476005-32476005 2:32250936-32250936
8 NLRC4 NM_001199138.2(NLRC4):c.1015C>A (p.Leu339Ile)SNV Uncertain significance 542042 rs1553347334 2:32475918-32475918 2:32250849-32250849
9 NLRC4 NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp)SNV Uncertain significance 547910 rs1317272776 2:32475459-32475459 2:32250390-32250390
10 NLRC4 NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met)SNV Uncertain significance 580615 rs1558441930 2:32449649-32449649 2:32224580-32224580
11 NLRC4 NM_001199138.2(NLRC4):c.494G>C (p.Cys165Ser)SNV Uncertain significance 573166 rs1558458397 2:32476439-32476439 2:32251370-32251370
12 NLRC4 NM_001199138.2(NLRC4):c.371T>C (p.Ile124Thr)SNV Uncertain significance 576971 rs188120749 2:32476562-32476562 2:32251493-32251493
13 NLRC4 NM_001199138.2(NLRC4):c.104G>A (p.Arg35His)SNV Uncertain significance 579967 rs755228287 2:32477646-32477646 2:32252577-32252577
14 NLRC4 NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly)SNV Uncertain significance 576184 rs755782497 2:32463273-32463273 2:32238204-32238204
15 NLRC4 NM_001199138.2(NLRC4):c.845A>C (p.Glu282Ala)SNV Uncertain significance 581390 rs769709902 2:32476088-32476088 2:32251019-32251019
16 NLRC4 NM_001199138.2(NLRC4):c.213dup (p.Ser72fs)duplication Uncertain significance 565443 rs1369844308 2:32477536-32477537 2:32252467-32252468
17 NLRC4 NM_001199138.2(NLRC4):c.1734C>A (p.Phe578Leu)SNV Uncertain significance 576523 rs1558456920 2:32475199-32475199 2:32250130-32250130
18 NLRC4 NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His)SNV Uncertain significance 581834 rs186759526 2:32449774-32449774 2:32224705-32224705
19 NLRC4 NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys)SNV Uncertain significance 568405 rs763410160 2:32475179-32475179 2:32250110-32250110
20 NLRC4 NM_001199138.2(NLRC4):c.1475G>A (p.Arg492Gln)SNV Uncertain significance 570941 rs1375814112 2:32475458-32475458 2:32250389-32250389
21 NLRC4 NM_001199138.2(NLRC4):c.1160T>C (p.Ile387Thr)SNV Uncertain significance 571019 rs756625023 2:32475773-32475773 2:32250704-32250704
22 NLRC4 NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser)SNV Uncertain significance 575189 rs780335164 2:32476062-32476062 2:32250993-32250993
23 NLRC4 NM_001199138.2(NLRC4):c.176_178delinsGG (p.Leu59fs)indel Uncertain significance 566051 rs1558459158 2:32477572-32477574 2:32252503-32252505
24 NLRC4 NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln)SNV Uncertain significance 644477 2:32449555-32449555 2:32224486-32224486
25 NLRC4 NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly)SNV Uncertain significance 661891 2:32449564-32449564 2:32224495-32224495
26 NLRC4 NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala)SNV Uncertain significance 652044 2:32449666-32449666 2:32224597-32224597
27 NLRC4 NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn)SNV Uncertain significance 656380 2:32449692-32449692 2:32224623-32224623
28 NLRC4 NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser)SNV Uncertain significance 655469 2:32449735-32449735 2:32224666-32224666
29 NLRC4 NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg)SNV Uncertain significance 665407 2:32449757-32449757 2:32224688-32224688
30 NLRC4 NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile)SNV Uncertain significance 640786 2:32460524-32460524 2:32235455-32235455
31 NLRC4 NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys)SNV Uncertain significance 664043 2:32460539-32460539 2:32235470-32235470
32 NLRC4 NM_001199138.2(NLRC4):c.2674G>A (p.Val892Met)SNV Uncertain significance 650029 2:32460578-32460578 2:32235509-32235509
33 NLRC4 NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)SNV Uncertain significance 643212 2:32460605-32460605 2:32235536-32235536
34 NLRC4 NM_001199138.2(NLRC4):c.2380T>C (p.Cys794Arg)SNV Uncertain significance 661691 2:32463342-32463342 2:32238273-32238273
35 NLRC4 NM_001199138.2(NLRC4):c.2368C>G (p.Leu790Val)SNV Uncertain significance 640362 2:32463354-32463354 2:32238285-32238285
36 NLRC4 NM_001199138.2(NLRC4):c.2043dup (p.Lys682fs)duplication Uncertain significance 651935 2:32474889-32474890 2:32249820-32249821
37 NLRC4 NM_001199138.2(NLRC4):c.1897G>A (p.Gly633Arg)SNV Uncertain significance 640171 2:32475036-32475036 2:32249967-32249967
38 NLRC4 NM_001199138.2(NLRC4):c.1799A>G (p.Glu600Gly)SNV Uncertain significance 641893 2:32475134-32475134 2:32250065-32250065
39 NLRC4 NM_001199138.2(NLRC4):c.1651A>G (p.Ile551Val)SNV Uncertain significance 648474 2:32475282-32475282 2:32250213-32250213
40 NLRC4 NM_001199138.2(NLRC4):c.1571C>T (p.Ala524Val)SNV Uncertain significance 646853 2:32475362-32475362 2:32250293-32250293
41 NLRC4 NM_001199138.2(NLRC4):c.1229T>C (p.Leu410Pro)SNV Uncertain significance 645273 2:32475704-32475704 2:32250635-32250635
42 NLRC4 NM_001199138.2(NLRC4):c.1163G>A (p.Arg388Gln)SNV Uncertain significance 638828 2:32475770-32475770 2:32250701-32250701
43 NLRC4 NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu)SNV Uncertain significance 646522 2:32476043-32476043 2:32250974-32250974
44 NLRC4 NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe)SNV Uncertain significance 649854 2:32476361-32476361 2:32251292-32251292
45 NLRC4 NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg)SNV Uncertain significance 655811 2:32476457-32476457 2:32251388-32251388
46 NLRC4 NM_001199138.2(NLRC4):c.377T>C (p.Ile126Thr)SNV Uncertain significance 658728 2:32476556-32476556 2:32251487-32251487
47 NLRC4 NM_001199138.2(NLRC4):c.287G>T (p.Gly96Val)SNV Uncertain significance 649583 2:32476646-32476646 2:32251577-32251577
48 NLRC4 NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu)SNV Uncertain significance 663197 2:32476652-32476652 2:32251583-32251583
49 NLRC4 NM_001199138.2(NLRC4):c.103C>T (p.Arg35Cys)SNV Uncertain significance 662934 2:32477647-32477647 2:32252578-32252578
50 NLRC4 NM_001199138.2(NLRC4):c.2350+9T>ASNV Likely benign 542053 rs146103494 2:32466093-32466093 2:32241024-32241024

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

73
# Symbol AA change Variation ID SNP ID
1 NLRC4 p.Thr337Ser VAR_072484 rs587777840
2 NLRC4 p.Val341Ala VAR_072485 rs587781260

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:

36
# 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
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19 FMA
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