MCID: NNT037
MIFTS: 20

Neonatal Inflammatory Skin and Bowel Disease

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

Aliases & Classifications for Neonatal Inflammatory Skin and Bowel Disease

MalaCards integrated aliases for Neonatal Inflammatory Skin and Bowel Disease:

Name: Neonatal Inflammatory Skin and Bowel Disease 59
Inflammatory Skin and Bowel Disease, Neonatal 13 40

Characteristics:

Orphanet epidemiological data:

59
neonatal inflammatory skin and bowel disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,late childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA294023

Summaries for Neonatal Inflammatory Skin and Bowel Disease

MalaCards based summary : Neonatal Inflammatory Skin and Bowel Disease, also known as inflammatory skin and bowel disease, neonatal, is related to inflammatory skin and bowel disease, neonatal, 2 and inflammatory skin and bowel disease, neonatal, 1. An important gene associated with Neonatal Inflammatory Skin and Bowel Disease is EGFR (Epidermal Growth Factor Receptor), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and ErbB4 Pathway. Affiliated tissues include skin and bone, and related phenotypes are Decreased cell migration and Increased cell migration

Related Diseases for Neonatal Inflammatory Skin and Bowel Disease

Diseases in the Neonatal Inflammatory Skin and Bowel Disease family:

Inflammatory Skin and Bowel Disease, Neonatal, 1 Inflammatory Skin and Bowel Disease, Neonatal, 2

Diseases related to Neonatal Inflammatory Skin and Bowel Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 inflammatory skin and bowel disease, neonatal, 2 12.7
2 inflammatory skin and bowel disease, neonatal, 1 12.6
3 intrahepatic cholangiocarcinoma 9.3 ADAM17 EGFR
4 gastrointestinal system cancer 9.2 ADAM17 EGFR
5 cholangiocarcinoma 9.0 ADAM17 EGFR

Graphical network of the top 20 diseases related to Neonatal Inflammatory Skin and Bowel Disease:



Diseases related to Neonatal Inflammatory Skin and Bowel Disease

Symptoms & Phenotypes for Neonatal Inflammatory Skin and Bowel Disease

GenomeRNAi Phenotypes related to Neonatal Inflammatory Skin and Bowel Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.96 ADAM17 EGFR
2 Increased cell migration GR00055-A-3 8.62 ADAM17 EGFR

MGI Mouse Phenotypes related to Neonatal Inflammatory Skin and Bowel Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 ADAM17 EGFR

Drugs & Therapeutics for Neonatal Inflammatory Skin and Bowel Disease

Search Clinical Trials , NIH Clinical Center for Neonatal Inflammatory Skin and Bowel Disease

Genetic Tests for Neonatal Inflammatory Skin and Bowel Disease

Anatomical Context for Neonatal Inflammatory Skin and Bowel Disease

MalaCards organs/tissues related to Neonatal Inflammatory Skin and Bowel Disease:

41
Skin, Bone

Publications for Neonatal Inflammatory Skin and Bowel Disease

Variations for Neonatal Inflammatory Skin and Bowel Disease

Expression for Neonatal Inflammatory Skin and Bowel Disease

Search GEO for disease gene expression data for Neonatal Inflammatory Skin and Bowel Disease.

Pathways for Neonatal Inflammatory Skin and Bowel Disease

Pathways related to Neonatal Inflammatory Skin and Bowel Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 ADAM17 EGFR
2
Show member pathways
11.95 ADAM17 EGFR
3
Show member pathways
11.6 ADAM17 EGFR
4
Show member pathways
10.99 ADAM17 EGFR
5 10.28 ADAM17 EGFR

GO Terms for Neonatal Inflammatory Skin and Bowel Disease

Cellular components related to Neonatal Inflammatory Skin and Bowel Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.26 ADAM17 EGFR
2 focal adhesion GO:0005925 9.16 ADAM17 EGFR
3 apical plasma membrane GO:0016324 8.96 ADAM17 EGFR
4 membrane raft GO:0045121 8.62 ADAM17 EGFR

Biological processes related to Neonatal Inflammatory Skin and Bowel Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.37 ADAM17 EGFR
2 positive regulation of cell migration GO:0030335 9.32 ADAM17 EGFR
3 positive regulation of protein phosphorylation GO:0001934 9.26 ADAM17 EGFR
4 positive regulation of cell growth GO:0030307 9.16 ADAM17 EGFR
5 epidermal growth factor receptor signaling pathway GO:0007173 8.96 ADAM17 EGFR
6 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 8.62 ADAM17 EGFR

Molecular functions related to Neonatal Inflammatory Skin and Bowel Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 ADAM17 EGFR

Sources for Neonatal Inflammatory Skin and Bowel Disease

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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