MCID: ATN011
MIFTS: 33

Autoinflammation with Infantile Enterocolitis

Categories: Genetic diseases, Infectious 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 54 24 71 29 69
Enterocolitis 42 69
Aifec 24 71
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;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
autoinflammation with infantile enterocolitis:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation with Infantile Enterocolitis

OMIM : 54
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 short stature, failure to thrive and splenomegaly. An important gene associated with Autoinflammation with Infantile Enterocolitis is NLRC4 (NLR Family CARD Domain Containing 4). Affiliated tissues include nk cells and bone.

UniProtKB/Swiss-Prot : 71 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 12.3
2 mastocytic enterocolitis 12.1
3 clostridium difficile colitis 11.4
4 short bowel syndrome 11.1
5 hypoganglionosis 11.0
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 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.7
11 hemolytic uremic syndrome, atypical 3 10.7
12 hemolytic uremic syndrome, atypical 4 10.7
13 5-oxoprolinase deficiency 10.7
14 intestinal perforation 10.2
15 cloacogenic carcinoma 9.9 CTLA4 RET
16 hypogonadotropic hypogonadism without anosmia, x-linked 9.9 ACHE RET
17 wolffian duct adenocarcinoma 9.9 ACHE RET
18 colitis 9.9
19 spinal meningioma 9.9 ACHE RET
20 peritonitis 9.9
21 paralytic ileus 9.8 ACHE RET
22 megacolon 9.8
23 toxic megacolon 9.8
24 diarrhea 9.8
25 neonatal stroke 9.8 ACHE CTLA4
26 diabetes mellitus, insulin-dependent, 12 9.8 CTLA4 RET
27 leukemia 9.7
28 mucositis 9.7
29 appendicitis 9.7
30 arthritis 9.7
31 hypoplastic left heart syndrome 9.7
32 cocaine abuse 9.7
33 colonic atresia 9.7
34 clostridium perfringens infection 9.7
35 cytomegalovirus infection 9.7
36 typhoid fever 9.7
37 clostridium septicum infection 9.7
38 protein-losing enteropathy 9.7
39 intussusception 9.7
40 inflammatory bowel disease 9.7
41 patent ductus arteriosus 9.7
42 myeloid leukemia 9.6
43 gas gangrene 9.6
44 lactobezoar 9.6
45 hepatitis 9.6
46 lymphocytic colitis 9.6
47 hyperinsulinism 9.6
48 meningitis 9.6
49 gastroenteritis 9.6
50 reactive arthritis 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 via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Abdomen- Spleen:
splenomegaly

Metabolic Features:
fever, episodic

Skeletal:
arthralgias

Muscle Soft Tissue:
myalgias

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

Growth- Other:
failure to thrive

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

Abdomen- Gastroin testinal:
enterocolitis, infantile
secretory diarrhea, infantile
vomiting, infantile
villous blunting

Skin Nails & Hair- Skin:
rash

Hematology:
disseminated intravascular coagulation, episodic
pancytopenia, episodic


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 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 splenomegaly 32 HP:0001744
4 myalgia 32 HP:0003326
5 pancytopenia 32 HP:0001876
6 increased serum ferritin 32 HP:0003281
7 fever 32 HP:0001945
8 arthralgia 32 HP:0002829
9 disseminated intravascular coagulation 32 HP:0005521
10 enterocolitis 32 HP:0004387

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:

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
Nk Cells, Bone

Publications for Autoinflammation with Infantile Enterocolitis

Variations for Autoinflammation with Infantile Enterocolitis

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

71
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 GRCh37 Chromosome 2, 32476421: 32476421

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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