AIFEC
MCID: ATN011
MIFTS: 39

Autoinflammation with Infantile Enterocolitis (AIFEC) malady

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

Aliases & Classifications for Autoinflammation with Infantile Enterocolitis

Aliases & Descriptions for Autoinflammation with Infantile Enterocolitis:

Name: Autoinflammation with Infantile Enterocolitis 54 24 66 29 69
Hereditary Autoinflammatory Diseases 42 69
Enterocolitis 42 69
Aifec 24 66
Nlrc4-Related Autoinflammatory Syndrome with Macrophage Activation Syndrome 56
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome 56
Nlrc4-Related Infantile Enterocolitis-Autoinflammatory Syndrome 56
Nlrc4-Related Autoinflammatory Syndrome with Mas 56
Nlrc4-Related Macrophage Activation Syndrome 56
Nlrc4-Related Mas 56

Characteristics:

Orphanet epidemiological data:

56
periodic fever-infantile enterocolitis-autoinflammatory syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

HPO:

32
autoinflammation with infantile enterocolitis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 616050
Orphanet 56 ORPHA436166
ICD10 via Orphanet 34 E85.0
MedGen 40 CN220130
ICD10 33 A04.7

Summaries for Autoinflammation with Infantile Enterocolitis

OMIM : 54 Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent... (616050) more...

MalaCards based summary : Autoinflammation with Infantile Enterocolitis, also known as hereditary autoinflammatory diseases, is related to perinatal necrotizing enterocolitis and mastocytic enterocolitis, and has symptoms including arthralgia, myalgia and fever. An important gene associated with Autoinflammation with Infantile Enterocolitis is NLRC4 (NLR Family CARD Domain Containing 4). The drugs Ceftriaxone and Fluocinolone Acetonide have been mentioned in the context of this disorder. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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 149)
id Related Disease Score Top Affiliating Genes
1 perinatal necrotizing enterocolitis 12.4
2 mastocytic enterocolitis 12.2
3 clostridium difficile colitis 11.3
4 hypoganglionosis 11.0
5 familial mediterranean fever, ar 10.9
6 hemolytic uremic syndrome, atypical 1 10.9
7 hemolytic uremic syndrome, atypical 5 10.7
8 hemolytic uremic syndrome, atypical 6 10.7
9 hemolytic uremic syndrome, atypical 2 10.7
10 hemolytic uremic syndrome, atypical 3 10.7
11 hemolytic uremic syndrome, atypical 4 10.7
12 pigmentary disorder, reticulate, with systemic manifestations 10.7
13 intestinal perforation 10.2
14 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.0 ACHE RET
15 autoimmune hemolytic anemia 10.0 CTLA4 RET
16 skin pilomatrix carcinoma 10.0 ACHE RET
17 ariboflavinosis 10.0 ACHE RET
18 spinal meningioma 9.9 ACHE RET
19 tooth agenesis, selective, 5 9.9 ACHE RET
20 neonatal stroke 9.9 ACHE CTLA4
21 colitis 9.9
22 diabetes mellitus, insulin-dependent, 12 9.9 CTLA4 RET
23 peritonitis 9.9
24 megacolon 9.8
25 short bowel syndrome 9.8
26 toxic megacolon 9.8
27 diarrhea 9.8
28 leukemia 9.7
29 mucositis 9.7
30 appendicitis 9.7
31 patent ductus arteriosus 9.7
32 intussusception 9.7
33 arthritis 9.7
34 inflammatory bowel disease 9.7
35 hypoplastic left heart syndrome 9.7
36 cocaine abuse 9.7
37 colonic atresia 9.7
38 protein-losing enteropathy 9.7
39 typhoid fever 9.7
40 clostridium septicum infection 9.7
41 acute leukemia 9.6
42 duodenitis 9.6
43 endotheliitis 9.6
44 bronchopulmonary dysplasia 9.6
45 chorioamnionitis 9.6
46 milk allergy 9.6
47 myeloid leukemia 9.6
48 gas gangrene 9.6
49 hyperinsulinism 9.6
50 lactobezoar 9.6

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 by clinical synopsis from OMIM:

616050

Clinical features from OMIM:

616050

Human phenotypes related to Autoinflammation with Infantile Enterocolitis:

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

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

(show top 50) (show all 286)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
2
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Early Phase 1 22916-47-8 4189
6
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
7 Poractant alfa Approved Phase 4 129069-19-8
8
Indomethacin Approved, Investigational Phase 4,Phase 3,Phase 2 53-86-1 3715
9
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
10
Nystatin Approved, Vet_approved Phase 4 1400-61-9 11953884
11
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1 15687-27-1 3672
12
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 57-83-0 5994
13
Metronidazole Approved Phase 4,Phase 3,Phase 2,Phase 1 443-48-1 4173
14
Caffeine Approved, Nutraceutical Phase 4,Phase 3 58-08-2 2519
15
Ginseng Approved, Nutraceutical Phase 4 50647-08-0
16 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
17 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
18 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
19 glucocorticoids Phase 4,Phase 3,Phase 2
20 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
21 Hormones Phase 4,Phase 2,Phase 3,Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
23 Antiemetics Phase 4,Phase 3
24 Antineoplastic Agents, Hormonal Phase 4,Phase 3
25 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Methylprednisolone acetate Phase 4,Phase 3,Phase 2
28 Methylprednisolone Hemisuccinate Phase 4,Phase 3,Phase 2
29 Neuroprotective Agents Phase 4
30 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Prednisolone acetate Phase 4,Phase 3,Phase 2
32 Prednisolone hemisuccinate Phase 4,Phase 3,Phase 2
33 Prednisolone phosphate Phase 4,Phase 3,Phase 2
34 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Antifungal Agents Phase 4,Phase 3,Early Phase 1
37 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
38 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
39 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
40 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
41 Calcium, Dietary Phase 4,Phase 3,Phase 2
42 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2
43 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Pulmonary Surfactants Phase 4,Phase 3,Phase 2
45 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
47 Antiparasitic Agents Phase 4,Phase 3,Phase 1
48 Tocolytic Agents Phase 4,Phase 3,Phase 2
49 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
50 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 423)
id Name Status NCT ID Phase
1 The Role of Short-course Ceftriaxone Therapy in the Treatment of Severe Nontyphoidal Salmonella Enterocolitis Unknown status NCT01278017 Phase 4
2 Withholding Feeds During Red Blood Cell Transfusion and TRAGI Unknown status NCT02132819 Phase 4
3 The Effect of Probiotics on Exacerbation of Inflammatory Bowel Disease Exacerbation (Crohn's Disease) Unknown status NCT01765998 Phase 4
4 Cpap at Delivery Room for Preterm Infants Unknown status NCT01024361 Phase 4
5 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4
6 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4
7 Intragastric and Peritoneal Microdialysis in Infants With Necrotizing Enterocolitis (NEC) Completed NCT00332592 Phase 4
8 Effect of Probiotics (Bio-Three) in Children's Enterocolitis Completed NCT00463190 Phase 4
9 Probiotics to Prevent NEC - a Historical Control Study Completed NCT01670916 Phase 4
10 Intestinal Inflammation in Ankylosing Spondylitis and the Effects of Adalimumab on Mucosal Healing Completed NCT01174186 Phase 4
11 Association Between Response to Treatment of C. Diff Colitis and Anti-C.Diff Toxin Antibody Completed NCT00304408 Phase 4
12 Early Versus Late Lactoferrin in Prevention of Neonatal Sepsis Completed NCT02959229 Phase 4
13 Comparison of Lactobacillus Reuteri and Nystatin Prophylaxis on Candida Colonization and Infection in Very Low Birth Weight Infants Completed NCT01531192 Phase 4
14 Ibuprofen and Renal Function in Premature Infants Completed NCT00217191 Phase 4
15 MRI and Neurodevelopment in Preterm Infants Following Administration of High-Dose Caffeine Completed NCT00809055 Phase 4
16 Efficacy of 17 Alpha-hydroxyprogesterones Caproate for the Prevention of Preterm Delivery Completed NCT00331695 Phase 4
17 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part IV Completed NCT01604447 Phase 4
18 Evaluate the Use of Plastic Bags in Preventing and Treating Hypothermia in Neonates Completed NCT01403623 Phase 4
19 A Randomised Controlled Trial of Iodide Supplementation in Preterm Infants Follow-up at 2 Years Completed NCT00638092 Phase 4
20 Impact of Oral Application of Gastrografin on the Meconium Evacuation in Very Low Birth Weight Infants Completed NCT01515696 Phase 4
21 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF Completed NCT02602028 Phase 4
22 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4
23 Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis Recruiting NCT02343562 Phase 4
24 OPTIMIST-A Trial: Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on CPAP Recruiting NCT02140580 Phase 4
25 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part II Recruiting NCT01604421 Phase 4
26 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part I Recruiting NCT01604317 Phase 4
27 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part III Recruiting NCT01604434 Phase 4
28 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Recruiting NCT02645916 Phase 4
29 Saline vs. Lactated Ringers for Emergency Department IV Fluid Resuscitation Not yet recruiting NCT03133767 Phase 4
30 The Role of Synbiotics in Reducing Post-Operative Infections in Patients Undergoing Cardiac Surgery: A Pilot Study Terminated NCT00164099 Phase 4
31 Removal Versus Retention of Cerclage in Preterm Premature Rupture of Membranes (PPROM) Terminated NCT00201656 Phase 4
32 Sodium Supplementation and Growth in Very Low Birth Weight Infants Terminated NCT01795638 Phase 4
33 Addition of Lactobacillus to Metronidazole in Treatment of CDAD Withdrawn NCT00304863 Phase 4
34 RCT of Postoperative Infections Following Caesarean Section Infections Following Caesarean Section Withdrawn NCT02009098 Phase 4
35 Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus in Very Premature Babies Withdrawn NCT00470743 Phase 4
36 Effect of Saccharomyces Boulardii on Necrotizing Enterocolitis in Very Low Birth Weight Infants Unknown status NCT01315821 Phase 3
37 Compassionate Use of Nitazoxanide for the Treatment of Clostridium Difficile Infection Unknown status NCT00304356 Phase 3
38 Randomized Study of Pessary Versus Standard Management in Women With Increased Chance of Premature Birth Unknown status NCT00735137 Phase 3
39 Cysteine Supplementation in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
40 Efficacy Study of Hypothermia Plus Magnesium Sulphate(MgSO4) in the Management of Term and Near Term Babies With Hypoxic Ischemic Encephalopathy Unknown status NCT01646619 Phase 3
41 Interferon-alpha2a Versus Cyclosporin A for Severe Ocular Behcet`s Disease (INCYTOB) Unknown status NCT00167583 Phase 3
42 Lactobacillus Reuteri for Prevention of Necrotizing Enterocolitis in Very Low-birth Weight Infants Completed NCT01531179 Phase 3
43 Probiotics in the Management of Necrotizing Enterocolitis in HIV-exposed Premature Infants Completed NCT01868737 Phase 3
44 The Efficacy of Symbiotic on Cytokines Completed NCT01899677 Phase 3
45 Role of Probiotics for Prevention of NEC in Preterm VLBW Infants Completed NCT02650869 Phase 3
46 Effect of Oral Probiotic Supplementation on The Rate of Hospital Acquired Infection and Necrotizing Enterocolitis in Preterm Very Low Birth Weight Infants Completed NCT01340469 Phase 3
47 Effect of Vitamin A in the Treatment of Neonatal Sepsis and Necrotizing Enterocolitis Completed NCT00707785 Phase 3
48 A Study of GT267-004 Versus Vancomycin and GT267-004 Versus Metronidazole in Patients With C.Difficile - Associated Diarrhea Completed NCT00106509 Phase 3
49 A Study of GT267-004 Versus Vancomycin and GT267-004 Versus Metronidazole in Patients With C. Difficile-Associated Diarrhea Completed NCT00196794 Phase 3
50 Vancomycin vs. Nitazoxanide to Treat Recurrent C. Difficile Colitis Completed NCT00304889 Phase 3

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:

id Genetic test Affiliating Genes
1 Autoinflammation with Infantile Enterocolitis 29 24 NLRC4

Anatomical Context for Autoinflammation with Infantile Enterocolitis

MalaCards organs/tissues related to Autoinflammation with Infantile Enterocolitis:

39
Bone

Publications for Autoinflammation with Infantile Enterocolitis

Variations for Autoinflammation with Infantile Enterocolitis

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

66
id 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
id 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_001199138.1(NLRC4): c.1009A> T (p.Thr337Ser) single nucleotide variant Pathogenic rs587777840 GRCh37 Chromosome 2, 32475924: 32475924
3 NLRC4 NM_021209.4(NLRC4): c.512C> T (p.Ser171Phe) single nucleotide variant Likely pathogenic rs1057518687 GRCh38 Chromosome 2, 32251352: 32251352

Expression for Autoinflammation with Infantile Enterocolitis

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

Pathways for Autoinflammation with Infantile Enterocolitis

GO Terms for Autoinflammation with Infantile Enterocolitis

Biological processes related to Autoinflammation with Infantile Enterocolitis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 8.62 ACHE RET

Sources for Autoinflammation with Infantile Enterocolitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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