MCID: INF144
MIFTS: 23

Inflammatory Skin and Bowel Disease, Neonatal, 1

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

Aliases & Classifications for Inflammatory Skin and Bowel Disease, Neonatal, 1

MalaCards integrated aliases for Inflammatory Skin and Bowel Disease, Neonatal, 1:

Name: Inflammatory Skin and Bowel Disease, Neonatal, 1 57 75 73
Inflammatory Skin and Bowel Disease, Neonatal 1 29 6
Nisbd1 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
diarrhea worsens in parallel with increases in severity of skin disease
based on the report of one lebanese family (last curated october 2014)


HPO:

32
inflammatory skin and bowel disease, neonatal, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Inflammatory Skin and Bowel Disease, Neonatal, 1

UniProtKB/Swiss-Prot : 75 Inflammatory skin and bowel disease, neonatal, 1: A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized.

MalaCards based summary : Inflammatory Skin and Bowel Disease, Neonatal, 1, is also known as inflammatory skin and bowel disease, neonatal 1, and has symptoms including pustular rash and pachyonychia. An important gene associated with Inflammatory Skin and Bowel Disease, Neonatal, 1 is ADAM17 (ADAM Metallopeptidase Domain 17). Affiliated tissues include skin, and related phenotypes are blepharitis and erythroderma

Description from OMIM: 614328

Related Diseases for Inflammatory Skin and Bowel Disease, Neonatal, 1

Diseases in the Neonatal Inflammatory Skin and Bowel Disease family:

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

Symptoms & Phenotypes for Inflammatory Skin and Bowel Disease, Neonatal, 1

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
villous atrophy
diarrhea, bloody
diarrhea, malabsorptive
plasma cell duodenitis
crypt hyperplasia
more
Cardiovascular Heart:
left ventricular dilation

Head And Neck Eyes:
eyebrows wiry and disorganized
eyelashes wiry and disorganized
blepharitis, recurrent, due to infection with staphylococcus aureus

Skin Nails Hair Skin:
erythema, perioral
erythema, perianal
skin fissures
pustular rash
erythroderma, psoriasiform
more
Immunology:
moderately elevated ige
no evidence of immunodeficiency

Skin Nails Hair Nails:
thickened nails
frequent paronychia due to candida and pseudomonas infections

Head And Neck Ears:
otitis externa, recurrent, due to infection with staphylococcus aureus

Skin Nails Hair Hair:
eyebrows wiry and disorganized
eyelashes wiry and disorganized
short or broken hair
severe weathering of hair shaft
markedly damaged cuticle of hair

Skin Nails Hair Skin Histology:
patchy vacuolization of basal layer
pigment incontinence
perivascular lymphocytic infiltrate involving vessels of papillary dermis


Clinical features from OMIM:

614328

Human phenotypes related to Inflammatory Skin and Bowel Disease, Neonatal, 1:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 blepharitis 32 HP:0000498
2 erythroderma 32 HP:0001019
3 thick nail 32 HP:0001805
4 paronychia 32 HP:0001818
5 eosinophilia 32 HP:0001880
6 hematochezia 32 HP:0002573
7 erythema 32 HP:0010783
8 villous atrophy 32 HP:0011473
9 pustule 32 HP:0200039

UMLS symptoms related to Inflammatory Skin and Bowel Disease, Neonatal, 1:


pustular rash, pachyonychia

MGI Mouse Phenotypes related to Inflammatory Skin and Bowel Disease, Neonatal, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.96 ADAM17 IAH1
2 skeleton MP:0005390 8.62 ADAM17 IAH1

Drugs & Therapeutics for Inflammatory Skin and Bowel Disease, Neonatal, 1

Search Clinical Trials , NIH Clinical Center for Inflammatory Skin and Bowel Disease, Neonatal, 1

Genetic Tests for Inflammatory Skin and Bowel Disease, Neonatal, 1

Genetic tests related to Inflammatory Skin and Bowel Disease, Neonatal, 1:

# Genetic test Affiliating Genes
1 Inflammatory Skin and Bowel Disease, Neonatal 1 29 ADAM17

Anatomical Context for Inflammatory Skin and Bowel Disease, Neonatal, 1

MalaCards organs/tissues related to Inflammatory Skin and Bowel Disease, Neonatal, 1:

41
Skin

Publications for Inflammatory Skin and Bowel Disease, Neonatal, 1

Variations for Inflammatory Skin and Bowel Disease, Neonatal, 1

ClinVar genetic disease variations for Inflammatory Skin and Bowel Disease, Neonatal, 1:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAM17 NM_003183.5(ADAM17): c.603_606delCAGA (p.Asp201Glufs) deletion Pathogenic rs387906866 GRCh37 Chromosome 2, 9667928: 9667931
2 ADAM17 NM_003183.5(ADAM17): c.603_606delCAGA (p.Asp201Glufs) deletion Pathogenic rs387906866 GRCh38 Chromosome 2, 9527799: 9527802
3 ADAM17 NM_003183.5(ADAM17): c.1919A> T (p.Lys640Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9633950: 9633950
4 ADAM17 NM_003183.5(ADAM17): c.1919A> T (p.Lys640Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9493821: 9493821
5 ADAM17 NM_003183.5(ADAM17): c.867A> G (p.Gln289=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 9661422: 9661422
6 ADAM17 NM_003183.5(ADAM17): c.867A> G (p.Gln289=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 9521293: 9521293
7 ADAM17 NM_003183.5(ADAM17): c.705C> G (p.Phe235Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9526159: 9526159
8 ADAM17 NM_003183.5(ADAM17): c.705C> G (p.Phe235Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9666288: 9666288
9 ADAM17 NM_003183.5(ADAM17): c.604A> G (p.Arg202Gly) single nucleotide variant Benign rs2230818 GRCh38 Chromosome 2, 9527801: 9527801
10 ADAM17 NM_003183.5(ADAM17): c.604A> G (p.Arg202Gly) single nucleotide variant Benign rs2230818 GRCh37 Chromosome 2, 9667930: 9667930
11 ADAM17 NM_003183.5(ADAM17): c.148A> G (p.Ile50Val) single nucleotide variant Likely benign rs61754178 GRCh38 Chromosome 2, 9543235: 9543235
12 ADAM17 NM_003183.5(ADAM17): c.148A> G (p.Ile50Val) single nucleotide variant Likely benign rs61754178 GRCh37 Chromosome 2, 9683364: 9683364
13 ADAM17 NM_003183.5(ADAM17): c.777T> C (p.Asp259=) single nucleotide variant Likely benign rs146893995 GRCh38 Chromosome 2, 9523315: 9523315
14 ADAM17 NM_003183.5(ADAM17): c.777T> C (p.Asp259=) single nucleotide variant Likely benign rs146893995 GRCh37 Chromosome 2, 9663444: 9663444
15 ADAM17 NM_003183.5(ADAM17): c.1695T> C (p.Thr565=) single nucleotide variant Benign rs56237316 GRCh38 Chromosome 2, 9497202: 9497202
16 ADAM17 NM_003183.5(ADAM17): c.1695T> C (p.Thr565=) single nucleotide variant Benign rs56237316 GRCh37 Chromosome 2, 9637331: 9637331
17 ADAM17 NM_003183.5(ADAM17): c.2243C> T (p.Ala748Val) single nucleotide variant Benign rs79932015 GRCh37 Chromosome 2, 9630538: 9630538
18 ADAM17 NM_003183.5(ADAM17): c.2243C> T (p.Ala748Val) single nucleotide variant Benign rs79932015 GRCh38 Chromosome 2, 9490409: 9490409
19 ADAM17 NM_003183.5(ADAM17): c.1531G> A (p.Gly511Ser) single nucleotide variant Uncertain significance rs554069834 GRCh37 Chromosome 2, 9645308: 9645308
20 ADAM17 NM_003183.5(ADAM17): c.1531G> A (p.Gly511Ser) single nucleotide variant Uncertain significance rs554069834 GRCh38 Chromosome 2, 9505179: 9505179
21 ADAM17 NM_003183.6(ADAM17): c.1970A> G (p.Asp657Gly) single nucleotide variant Uncertain significance rs144657795 GRCh38 Chromosome 2, 9493770: 9493770
22 ADAM17 NM_003183.6(ADAM17): c.1970A> G (p.Asp657Gly) single nucleotide variant Uncertain significance rs144657795 GRCh37 Chromosome 2, 9633899: 9633899
23 ADAM17 NM_003183.6(ADAM17): c.1960G> A (p.Asp654Asn) single nucleotide variant Uncertain significance rs758594009 GRCh37 Chromosome 2, 9633909: 9633909
24 ADAM17 NM_003183.6(ADAM17): c.1960G> A (p.Asp654Asn) single nucleotide variant Uncertain significance rs758594009 GRCh38 Chromosome 2, 9493780: 9493780
25 ADAM17 NM_003183.6(ADAM17): c.2017G> A (p.Val673Ile) single nucleotide variant Benign rs61754177 GRCh38 Chromosome 2, 9492963: 9492963
26 ADAM17 NM_003183.6(ADAM17): c.2017G> A (p.Val673Ile) single nucleotide variant Benign rs61754177 GRCh37 Chromosome 2, 9633092: 9633092
27 ADAM17 NM_003183.6(ADAM17): c.1471C> T (p.Pro491Ser) single nucleotide variant Uncertain significance rs55937573 GRCh38 Chromosome 2, 9505239: 9505239
28 ADAM17 NM_003183.6(ADAM17): c.1471C> T (p.Pro491Ser) single nucleotide variant Uncertain significance rs55937573 GRCh37 Chromosome 2, 9645368: 9645368
29 ADAM17 NM_003183.6(ADAM17): c.354C> T (p.His118=) single nucleotide variant Likely benign rs373534760 GRCh38 Chromosome 2, 9536705: 9536705
30 ADAM17 NM_003183.6(ADAM17): c.354C> T (p.His118=) single nucleotide variant Likely benign rs373534760 GRCh37 Chromosome 2, 9676834: 9676834
31 ADAM17 NM_003183.6(ADAM17): c.2416G> C (p.Ala806Pro) single nucleotide variant Uncertain significance rs761391373 GRCh38 Chromosome 2, 9490236: 9490236
32 ADAM17 NM_003183.6(ADAM17): c.2416G> C (p.Ala806Pro) single nucleotide variant Uncertain significance rs761391373 GRCh37 Chromosome 2, 9630365: 9630365
33 ADAM17 NM_003183.6(ADAM17): c.2073C> T (p.Val691=) single nucleotide variant Benign rs34355677 GRCh38 Chromosome 2, 9492907: 9492907
34 ADAM17 NM_003183.6(ADAM17): c.2073C> T (p.Val691=) single nucleotide variant Benign rs34355677 GRCh37 Chromosome 2, 9633036: 9633036
35 ADAM17 NM_003183.6(ADAM17): c.844-5T> C single nucleotide variant Benign rs201461814 GRCh38 Chromosome 2, 9521321: 9521321
36 ADAM17 NM_003183.6(ADAM17): c.844-5T> C single nucleotide variant Benign rs201461814 GRCh37 Chromosome 2, 9661450: 9661450

Expression for Inflammatory Skin and Bowel Disease, Neonatal, 1

Search GEO for disease gene expression data for Inflammatory Skin and Bowel Disease, Neonatal, 1.

Pathways for Inflammatory Skin and Bowel Disease, Neonatal, 1

GO Terms for Inflammatory Skin and Bowel Disease, Neonatal, 1

Molecular functions related to Inflammatory Skin and Bowel Disease, Neonatal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.62 ADAM17 IAH1

Sources for Inflammatory Skin and Bowel Disease, Neonatal, 1

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
Content
Loading form....