MCID: NNT037
MIFTS: 33

Neonatal Inflammatory Skin and Bowel Disease

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 58 36
Inflammatory Skin and Bowel Disease, Neonatal 39

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare neurological diseases
Rare gastroenterological diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Summaries for Neonatal Inflammatory Skin and Bowel Disease

KEGG : 36 Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations that cause NISBD have been identified.

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, 1 and inflammatory skin and bowel disease, neonatal, 2. An important gene associated with Neonatal Inflammatory Skin and Bowel Disease is ADAM17 (ADAM Metallopeptidase Domain 17), and among its related pathways/superpathways are Insulin receptor recycling and Signaling by ERBB4. Affiliated tissues include skin, and related phenotypes are erythema and blepharitis

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, 1 32.5 IAH1 ADAM17
2 inflammatory skin and bowel disease, neonatal, 2 11.9
3 toxic shock syndrome 9.5 EGFR ADAM17
4 covid-19 9.4 EGFR ADAM17

Symptoms & Phenotypes for Neonatal Inflammatory Skin and Bowel Disease

Human phenotypes related to Neonatal Inflammatory Skin and Bowel Disease:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
2 blepharitis 58 31 frequent (33%) Frequent (79-30%) HP:0000498
3 recurrent bacterial skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0005406
4 pustule 58 31 frequent (33%) Frequent (79-30%) HP:0200039
5 psoriasiform dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0003765
6 onychogryposis 58 31 frequent (33%) Frequent (79-30%) HP:0001805
7 horizontal eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0011228
8 scaling skin 58 31 frequent (33%) Frequent (79-30%) HP:0040189
9 bloody diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0025085
10 recurrent gastroenteritis 58 31 frequent (33%) Frequent (79-30%) HP:0031123
11 chapped lip 58 31 frequent (33%) Frequent (79-30%) HP:0040181
12 otitis externa 58 31 frequent (33%) Frequent (79-30%) HP:0410017
13 anal fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012390
14 chronic monilial nail infection 58 31 frequent (33%) Frequent (79-30%) HP:0008396
15 perianal rash 58 31 frequent (33%) Frequent (79-30%) HP:0011131
16 slow-growing scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0100038
17 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
18 generalized abnormality of skin 58 Frequent (79-30%)

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-3 8.32 EGFR

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 ADAM17 EGFR IAH1

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:

40
Skin

Publications for Neonatal Inflammatory Skin and Bowel Disease

Articles related to Neonatal Inflammatory Skin and Bowel Disease:

# Title Authors PMID Year
1
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. 6
24691054 2014
2
Inflammatory skin and bowel disease linked to ADAM17 deletion. 6
22010916 2011
3
Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? 61
32447396 2021

Variations for Neonatal Inflammatory Skin and Bowel Disease

ClinVar genetic disease variations for Neonatal Inflammatory Skin and Bowel Disease:

6 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1645del (p.Thr549fs) Deletion Pathogenic 640542 rs1572897958 GRCh37: 2:9642305-9642305
GRCh38: 2:9502176-9502176
2 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1975_1993+4del Deletion Pathogenic 852789 GRCh37: 2:9633872-9633894
GRCh38: 2:9493743-9493765
3 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1793dup (p.Asn598fs) Duplication Pathogenic 857427 GRCh37: 2:9634886-9634887
GRCh38: 2:9494757-9494758
4 EGFR NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp) SNV Pathogenic 157499 rs606231253 GRCh37: 7:55225431-55225431
GRCh38: 7:55157738-55157738
5 EGFR NM_005228.5(EGFR):c.744C>A (p.Cys248Ter) SNV Pathogenic 1031523 GRCh37: 7:55220354-55220354
GRCh38: 7:55152661-55152661
6 ADAM17 NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) Deletion Pathogenic 30374 rs387906866 GRCh37: 2:9667928-9667931
GRCh38: 2:9527799-9527802
7 ADAM17 NM_003183.6(ADAM17):c.851T>C (p.Ile284Thr) SNV Likely pathogenic 997097 GRCh37: 2:9661438-9661438
GRCh38: 2:9521309-9521309
8 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile) SNV Uncertain significance 472725 rs1553356735 GRCh37: 2:9633950-9633950
GRCh38: 2:9493821-9493821
9 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn) SNV Uncertain significance 575937 rs751381392 GRCh37: 2:9630481-9630481
GRCh38: 2:9490352-9490352
10 ADAM17 NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys) SNV Uncertain significance 837367 GRCh37: 2:9663436-9663436
GRCh38: 2:9523307-9523307
11 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe) SNV Uncertain significance 843944 GRCh37: 2:9630383-9630383
GRCh38: 2:9490254-9490254
12 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1658G>C (p.Ser553Thr) SNV Uncertain significance 844806 GRCh37: 2:9637368-9637368
GRCh38: 2:9497239-9497239
13 ADAM17 NM_003183.6(ADAM17):c.446T>C (p.Ile149Thr) SNV Uncertain significance 844850 GRCh37: 2:9675967-9675967
GRCh38: 2:9535838-9535838
14 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser) SNV Uncertain significance 848657 GRCh37: 2:9630539-9630539
GRCh38: 2:9490410-9490410
15 ADAM17 NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp) SNV Uncertain significance 855909 GRCh37: 2:9675979-9675979
GRCh38: 2:9535850-9535850
16 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser) SNV Uncertain significance 858793 GRCh37: 2:9633884-9633884
GRCh38: 2:9493755-9493755
17 ADAM17 NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg) SNV Uncertain significance 861326 GRCh37: 2:9661345-9661345
GRCh38: 2:9521216-9521216
18 ADAM17 NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys) SNV Uncertain significance 945675 GRCh37: 2:9676872-9676872
GRCh38: 2:9536743-9536743
19 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs) Insertion Uncertain significance 951710 GRCh37: 2:9630608-9630609
GRCh38: 2:9490479-9490480
20 ADAM17 NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala) SNV Uncertain significance 956810 GRCh37: 2:9658107-9658107
GRCh38: 2:9517978-9517978
21 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1648+4C>T SNV Uncertain significance 998845 GRCh37: 2:9642298-9642298
GRCh38: 2:9502169-9502169
22 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro) SNV Uncertain significance 1000663 GRCh37: 2:9630530-9630530
GRCh38: 2:9490401-9490401
23 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1643G>A (p.Cys548Tyr) SNV Uncertain significance 1004749 GRCh37: 2:9642307-9642307
GRCh38: 2:9502178-9502178
24 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs) Deletion Uncertain significance 1006698 GRCh37: 2:9630603-9630612
GRCh38: 2:9490474-9490483
25 ADAM17 NM_003183.6(ADAM17):c.110C>A (p.Ser37Tyr) SNV Uncertain significance 1007110 GRCh37: 2:9683402-9683402
GRCh38: 2:9543273-9543273
26 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup) Duplication Uncertain significance 1011031 GRCh37: 2:9630314-9630315
GRCh38: 2:9490185-9490186
27 ADAM17 NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr) SNV Uncertain significance 573989 rs373192089 GRCh37: 2:9666341-9666341
GRCh38: 2:9526212-9526212
28 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys) SNV Uncertain significance 644241 rs780557617 GRCh37: 2:9637279-9637279
GRCh38: 2:9497150-9497150
29 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg) SNV Uncertain significance 834970 GRCh37: 2:9630455-9630455
GRCh38: 2:9490326-9490326
30 ADAM17 NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr) SNV Uncertain significance 843333 GRCh37: 2:9658253-9658253
GRCh38: 2:9518124-9518124
31 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1914+3_1914+6del Deletion Uncertain significance 846168 GRCh37: 2:9634760-9634763
GRCh38: 2:9494631-9494634
32 ADAM17 NM_003183.6(ADAM17):c.94C>G (p.Leu32Val) SNV Uncertain significance 849633 GRCh37: 2:9695641-9695641
GRCh38: 2:9555512-9555512
33 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1372A>G (p.Ile458Val) SNV Uncertain significance 850033 GRCh37: 2:9645467-9645467
GRCh38: 2:9505338-9505338
34 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2174G>A (p.Arg725His) SNV Uncertain significance 946680 GRCh37: 2:9630607-9630607
GRCh38: 2:9490478-9490478
35 ADAM17 NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) SNV Uncertain significance 636649 rs199755899 GRCh37: 2:9658101-9658101
GRCh38: 2:9517972-9517972
36 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro) SNV Uncertain significance 955729 GRCh37: 2:9630473-9630473
GRCh38: 2:9490344-9490344
37 ADAM17 NM_003183.6(ADAM17):c.289G>A (p.Val97Met) SNV Uncertain significance 1014516 GRCh37: 2:9676899-9676899
GRCh38: 2:9536770-9536770
38 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr) SNV Uncertain significance 872195 GRCh37: 2:9633031-9633031
GRCh38: 2:9492902-9492902
39 ADAM17 NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile) SNV Uncertain significance 1016305 GRCh37: 2:9666349-9666349
GRCh38: 2:9526220-9526220
40 ADAM17 NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro) SNV Uncertain significance 1017252 GRCh37: 2:9663425-9663425
GRCh38: 2:9523296-9523296
41 ADAM17 NM_003183.6(ADAM17):c.38C>T (p.Pro13Leu) SNV Uncertain significance 1018128 GRCh37: 2:9695697-9695697
GRCh38: 2:9555568-9555568
42 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser) SNV Uncertain significance 472723 rs554069834 GRCh37: 2:9645308-9645308
GRCh38: 2:9505179-9505179
43 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn) SNV Uncertain significance 539950 rs758594009 GRCh37: 2:9633909-9633909
GRCh38: 2:9493780-9493780
44 ADAM17 NM_003183.6(ADAM17):c.46C>G (p.Leu16Val) SNV Uncertain significance 577404 rs768569416 GRCh37: 2:9695689-9695689
GRCh38: 2:9555560-9555560
45 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys) SNV Uncertain significance 658279 rs764050476 GRCh37: 2:9630344-9630344
GRCh38: 2:9490215-9490215
46 ADAM17 , IAH1 NM_003183.6(ADAM17):c.1673C>T (p.Pro558Leu) SNV Uncertain significance 834962 GRCh37: 2:9637353-9637353
GRCh38: 2:9497224-9497224
47 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys) SNV Uncertain significance 853870 GRCh37: 2:9630461-9630461
GRCh38: 2:9490332-9490332
48 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu) SNV Uncertain significance 862057 GRCh37: 2:9630385-9630385
GRCh38: 2:9490256-9490256
49 ADAM17 NM_003183.6(ADAM17):c.514A>G (p.Ile172Val) SNV Uncertain significance 934942 GRCh37: 2:9668020-9668020
GRCh38: 2:9527891-9527891
50 ADAM17 , IAH1 NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala) SNV Uncertain significance 939993 GRCh37: 2:9630590-9630590
GRCh38: 2:9490461-9490461

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
11.6 EGFR ADAM17
2
Show member pathways
10.99 EGFR ADAM17
3 10.28 EGFR ADAM17

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 apical plasma membrane GO:0016324 8.96 EGFR ADAM17
2 membrane raft GO:0045121 8.62 EGFR ADAM17

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 migration GO:0030335 9.37 EGFR ADAM17
2 positive regulation of protein phosphorylation GO:0001934 9.32 EGFR ADAM17
3 positive regulation of cell growth GO:0030307 9.26 EGFR ADAM17
4 epidermal growth factor receptor signaling pathway GO:0007173 9.16 EGFR ADAM17
5 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 8.96 EGFR ADAM17
6 positive regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045737 8.62 EGFR ADAM17

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 EGFR ADAM17

Sources for Neonatal Inflammatory Skin and Bowel Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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