NISBD1
MCID: INF144
MIFTS: 23

Inflammatory Skin and Bowel Disease, Neonatal, 1 (NISBD1)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin 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 58 76 74
Inflammatory Skin and Bowel Disease, Neonatal 1 30 6
Nisbd1 58 76

Characteristics:

OMIM:

58
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:

33
inflammatory skin and bowel disease, neonatal, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Inflammatory Skin and Bowel Disease, Neonatal, 1

UniProtKB/Swiss-Prot : 76 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 erythema

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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 blepharitis 33 HP:0000498
2 erythema 33 HP:0010783
3 hematochezia 33 HP:0002573
4 erythroderma 33 HP:0001019
5 eosinophilia 33 HP:0001880
6 pustule 33 HP:0200039
7 paronychia 33 HP:0001818
8 thick nail 33 HP:0001805
9 villous atrophy 33 HP:0011473

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
villous atrophy
diarrhea, bloody
diarrhea, malabsorptive
plasma cell duodenitis
crypt hyperplasia
more
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

Immunology:
moderately elevated ige
no evidence of immunodeficiency

Skin Nails Hair Skin:
pustular rash
erythema, perioral
erythema, perianal
skin fissures
erythroderma, psoriasiform
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 Histology:
patchy vacuolization of basal layer
pigment incontinence
perivascular lymphocytic infiltrate involving vessels of papillary dermis

Clinical features from OMIM:

614328

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:

47
# 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 30 ADAM17

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

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

42
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 top 50) (show all 52)
# 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_003183.6(ADAM17): c.1919A> T (p.Lys640Ile) single nucleotide variant Uncertain significance rs1553356735 GRCh37 Chromosome 2, 9633950: 9633950
4 ADAM17 NM_003183.6(ADAM17): c.1919A> T (p.Lys640Ile) single nucleotide variant Uncertain significance rs1553356735 GRCh38 Chromosome 2, 9493821: 9493821
5 ADAM17 NM_003183.6(ADAM17): c.867A> G (p.Gln289=) single nucleotide variant Likely benign rs1553363787 GRCh37 Chromosome 2, 9661422: 9661422
6 ADAM17 NM_003183.6(ADAM17): c.867A> G (p.Gln289=) single nucleotide variant Likely benign rs1553363787 GRCh38 Chromosome 2, 9521293: 9521293
7 ADAM17 NM_003183.6(ADAM17): c.705C> G (p.Phe235Leu) single nucleotide variant Uncertain significance rs1553364641 GRCh37 Chromosome 2, 9666288: 9666288
8 ADAM17 NM_003183.6(ADAM17): c.705C> G (p.Phe235Leu) single nucleotide variant Uncertain significance rs1553364641 GRCh38 Chromosome 2, 9526159: 9526159
9 ADAM17 NM_003183.6(ADAM17): c.604A> G (p.Arg202Gly) single nucleotide variant Benign rs2230818 GRCh38 Chromosome 2, 9527801: 9527801
10 ADAM17 NM_003183.6(ADAM17): c.604A> G (p.Arg202Gly) single nucleotide variant Benign rs2230818 GRCh37 Chromosome 2, 9667930: 9667930
11 ADAM17 NM_003183.6(ADAM17): c.148A> G (p.Ile50Val) single nucleotide variant Likely benign rs61754178 GRCh38 Chromosome 2, 9543235: 9543235
12 ADAM17 NM_003183.6(ADAM17): c.148A> G (p.Ile50Val) single nucleotide variant Likely benign rs61754178 GRCh37 Chromosome 2, 9683364: 9683364
13 ADAM17 NM_003183.6(ADAM17): c.777T> C (p.Asp259=) single nucleotide variant Likely benign rs146893995 GRCh38 Chromosome 2, 9523315: 9523315
14 ADAM17 NM_003183.6(ADAM17): c.777T> C (p.Asp259=) single nucleotide variant Likely benign rs146893995 GRCh37 Chromosome 2, 9663444: 9663444
15 ADAM17 NM_003183.6(ADAM17): c.1695T> C (p.Thr565=) single nucleotide variant Benign rs56237316 GRCh38 Chromosome 2, 9497202: 9497202
16 ADAM17 NM_003183.6(ADAM17): c.1695T> C (p.Thr565=) single nucleotide variant Benign rs56237316 GRCh37 Chromosome 2, 9637331: 9637331
17 ADAM17 NM_003183.6(ADAM17): c.2243C> T (p.Ala748Val) single nucleotide variant Benign rs79932015 GRCh37 Chromosome 2, 9630538: 9630538
18 ADAM17 NM_003183.6(ADAM17): c.2243C> T (p.Ala748Val) single nucleotide variant Benign rs79932015 GRCh38 Chromosome 2, 9490409: 9490409
19 ADAM17 NM_003183.6(ADAM17): c.1531G> A (p.Gly511Ser) single nucleotide variant Uncertain significance rs554069834 GRCh37 Chromosome 2, 9645308: 9645308
20 ADAM17 NM_003183.6(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 GRCh37 Chromosome 2, 9633899: 9633899
22 ADAM17 NM_003183.6(ADAM17): c.1970A> G (p.Asp657Gly) single nucleotide variant Uncertain significance rs144657795 GRCh38 Chromosome 2, 9493770: 9493770
23 ADAM17 NM_003183.6(ADAM17): c.1960G> A (p.Asp654Asn) single nucleotide variant Uncertain significance rs758594009 GRCh38 Chromosome 2, 9493780: 9493780
24 ADAM17 NM_003183.6(ADAM17): c.1960G> A (p.Asp654Asn) single nucleotide variant Uncertain significance rs758594009 GRCh37 Chromosome 2, 9633909: 9633909
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 GRCh37 Chromosome 2, 9645368: 9645368
28 ADAM17 NM_003183.6(ADAM17): c.1471C> T (p.Pro491Ser) single nucleotide variant Uncertain significance rs55937573 GRCh38 Chromosome 2, 9505239: 9505239
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 GRCh37 Chromosome 2, 9630365: 9630365
32 ADAM17 NM_003183.6(ADAM17): c.2416G> C (p.Ala806Pro) single nucleotide variant Uncertain significance rs761391373 GRCh38 Chromosome 2, 9490236: 9490236
33 ADAM17 NM_003183.6(ADAM17): c.2073C> T (p.Val691=) single nucleotide variant Benign rs34355677 GRCh37 Chromosome 2, 9633036: 9633036
34 ADAM17 NM_003183.6(ADAM17): c.2073C> T (p.Val691=) single nucleotide variant Benign rs34355677 GRCh38 Chromosome 2, 9492907: 9492907
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
37 ADAM17 NM_003183.6(ADAM17): c.1907A> G (p.Asp636Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9494644: 9494644
38 ADAM17 NM_003183.6(ADAM17): c.1907A> G (p.Asp636Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9634773: 9634773
39 ADAM17 NM_003183.6(ADAM17): c.2300G> A (p.Ser767Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9490352: 9490352
40 ADAM17 NM_003183.6(ADAM17): c.2300G> A (p.Ser767Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9630481: 9630481
41 ADAM17 NM_003183.6(ADAM17): c.1520C> T (p.Thr507Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9645319: 9645319
42 ADAM17 NM_003183.6(ADAM17): c.1520C> T (p.Thr507Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9505190: 9505190
43 ADAM17 NM_003183.6(ADAM17): c.1511G> A (p.Ser504Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9645328: 9645328
44 ADAM17 NM_003183.6(ADAM17): c.1511G> A (p.Ser504Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9505199: 9505199
45 ADAM17 NM_003183.6(ADAM17): c.1331A> G (p.His444Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9509992: 9509992
46 ADAM17 NM_003183.6(ADAM17): c.1331A> G (p.His444Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9650121: 9650121
47 ADAM17 NM_003183.6(ADAM17): c.652C> A (p.Pro218Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9526212: 9526212
48 ADAM17 NM_003183.6(ADAM17): c.652C> A (p.Pro218Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9666341: 9666341
49 ADAM17 NM_003183.6(ADAM17): c.53C> T (p.Pro18Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 9555553: 9555553
50 ADAM17 NM_003183.6(ADAM17): c.53C> T (p.Pro18Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 9695682: 9695682

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....