NISBD1
MCID: INF144
MIFTS: 25

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 57 74 72
Inflammatory Skin and Bowel Disease, Neonatal 1 29 6
Nisbd1 57 74

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:



External Ids:

MedGen 42 C3280501
UMLS 72 C3280501

Summaries for Inflammatory Skin and Bowel Disease, Neonatal, 1

UniProtKB/Swiss-Prot : 74 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 erythema and blepharitis

More information from OMIM: 614328 PS614328

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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

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

Articles related to Inflammatory Skin and Bowel Disease, Neonatal, 1:

# Title Authors PMID Year
1
Inflammatory skin and bowel disease linked to ADAM17 deletion. 8 71
22010916 2011

Variations for Inflammatory Skin and Bowel Disease, Neonatal, 1

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

6 (show all 44)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADAM17 NM_003183.6(ADAM17): c.603_606del (p.Asp201fs) deletion Pathogenic rs387906866 2:9667928-9667931 2:9527799-9527802
2 ADAM17 NM_003183.6(ADAM17): c.1645del (p.Thr549fs) deletion Pathogenic 2:9642305-9642305 2:9502176-9502176
3 ADAM17 NM_003183.6(ADAM17): c.1192-4dup duplication Uncertain significance
4 ADAM17 NM_003183.6(ADAM17): c.754-6A> G single nucleotide variant Uncertain significance 2:9663473-9663473 2:9523344-9523344
5 ADAM17 NM_003183.6(ADAM17): c.1993+4G> T single nucleotide variant Uncertain significance 2:9633872-9633872 2:9493743-9493743
6 ADAM17 NM_003183.6(ADAM17): c.46C> G (p.Leu16Val) single nucleotide variant Uncertain significance 2:9695689-9695689 2:9555560-9555560
7 ADAM17 NM_003183.6(ADAM17): c.1919A> T (p.Lys640Ile) single nucleotide variant Uncertain significance rs1553356735 2:9633950-9633950 2:9493821-9493821
8 ADAM17 NM_003183.6(ADAM17): c.1471C> T (p.Pro491Ser) single nucleotide variant Uncertain significance rs55937573 2:9645368-9645368 2:9505239-9505239
9 ADAM17 NM_003183.6(ADAM17): c.59C> G (p.Pro20Arg) single nucleotide variant Uncertain significance 2:9695676-9695676 2:9555547-9555547
10 ADAM17 NM_003183.6(ADAM17): c.89A> G (p.Gln30Arg) single nucleotide variant Uncertain significance 2:9695646-9695646 2:9555517-9555517
11 ADAM17 NM_003183.6(ADAM17): c.179T> C (p.Leu60Pro) single nucleotide variant Uncertain significance 2:9683333-9683333 2:9543204-9543204
12 ADAM17 NM_003183.6(ADAM17): c.401A> C (p.Asp134Ala) single nucleotide variant Uncertain significance 2:9676012-9676012 2:9535883-9535883
13 ADAM17 NM_003183.6(ADAM17): c.529C> T (p.Arg177Cys) single nucleotide variant Uncertain significance 2:9668005-9668005 2:9527876-9527876
14 ADAM17 NM_003183.6(ADAM17): c.536A> G (p.Gln179Arg) single nucleotide variant Uncertain significance 2:9667998-9667998 2:9527869-9527869
15 ADAM17 NM_003183.6(ADAM17): c.1327G> A (p.Asp443Asn) single nucleotide variant Uncertain significance 2:9650125-9650125 2:9509996-9509996
16 ADAM17 NM_003183.6(ADAM17): c.1495G> A (p.Asp499Asn) single nucleotide variant Uncertain significance 2:9645344-9645344 2:9505215-9505215
17 ADAM17 NM_003183.6(ADAM17): c.1907A> G (p.Asp636Gly) single nucleotide variant Uncertain significance 2:9634773-9634773 2:9494644-9494644
18 ADAM17 NM_003183.6(ADAM17): c.2300G> A (p.Ser767Asn) single nucleotide variant Uncertain significance 2:9630481-9630481 2:9490352-9490352
19 ADAM17 NM_003183.6(ADAM17): c.1520C> T (p.Thr507Met) single nucleotide variant Uncertain significance 2:9645319-9645319 2:9505190-9505190
20 ADAM17 NM_003183.6(ADAM17): c.1511G> A (p.Ser504Asn) single nucleotide variant Uncertain significance 2:9645328-9645328 2:9505199-9505199
21 ADAM17 NM_003183.6(ADAM17): c.1331A> G (p.His444Arg) single nucleotide variant Uncertain significance 2:9650121-9650121 2:9509992-9509992
22 ADAM17 NM_003183.6(ADAM17): c.652C> A (p.Pro218Thr) single nucleotide variant Uncertain significance 2:9666341-9666341 2:9526212-9526212
23 ADAM17 NM_003183.6(ADAM17): c.53C> T (p.Pro18Leu) single nucleotide variant Uncertain significance 2:9695682-9695682 2:9555553-9555553
24 ADAM17 NM_003183.6(ADAM17): c.2437C> T (p.Arg813Cys) single nucleotide variant Uncertain significance 2:9630344-9630344 2:9490215-9490215
25 ADAM17 NM_003183.6(ADAM17): c.2380G> A (p.Asp794Asn) single nucleotide variant Uncertain significance 2:9630401-9630401 2:9490272-9490272
26 ADAM17 NM_003183.6(ADAM17): c.2212C> T (p.Arg738Cys) single nucleotide variant Uncertain significance 2:9630569-9630569 2:9490440-9490440
27 ADAM17 NM_003183.6(ADAM17): c.1817A> C (p.Asp606Ala) single nucleotide variant Uncertain significance 2:9634863-9634863 2:9494734-9494734
28 ADAM17 NM_003183.6(ADAM17): c.1747G> A (p.Glu583Lys) single nucleotide variant Uncertain significance 2:9637279-9637279 2:9497150-9497150
29 ADAM17 NM_003183.6(ADAM17): c.1718G> A (p.Cys573Tyr) single nucleotide variant Uncertain significance 2:9637308-9637308 2:9497179-9497179
30 ADAM17 NM_003183.6(ADAM17): c.1531G> A (p.Gly511Ser) single nucleotide variant Uncertain significance rs554069834 2:9645308-9645308 2:9505179-9505179
31 ADAM17 NM_003183.6(ADAM17): c.1970A> G (p.Asp657Gly) single nucleotide variant Uncertain significance rs144657795 2:9633899-9633899 2:9493770-9493770
32 ADAM17 NM_003183.6(ADAM17): c.1960G> A (p.Asp654Asn) single nucleotide variant Uncertain significance rs758594009 2:9633909-9633909 2:9493780-9493780
33 ADAM17 NM_003183.6(ADAM17): c.2416G> C (p.Ala806Pro) single nucleotide variant Uncertain significance rs761391373 2:9630365-9630365 2:9490236-9490236
34 ADAM17 NM_003183.6(ADAM17): c.705C> G (p.Phe235Leu) single nucleotide variant Uncertain significance rs1553364641 2:9666288-9666288 2:9526159-9526159
35 ADAM17 NM_003183.6(ADAM17): c.867A> G (p.Gln289=) single nucleotide variant Likely benign rs1553363787 2:9661422-9661422 2:9521293-9521293
36 ADAM17 NM_003183.6(ADAM17): c.148A> G (p.Ile50Val) single nucleotide variant Likely benign rs61754178 2:9683364-9683364 2:9543235-9543235
37 ADAM17 NM_003183.6(ADAM17): c.777T> C (p.Asp259=) single nucleotide variant Likely benign rs146893995 2:9663444-9663444 2:9523315-9523315
38 ADAM17 NM_003183.6(ADAM17): c.354C> T (p.His118=) single nucleotide variant Likely benign rs373534760 2:9676834-9676834 2:9536705-9536705
39 ADAM17 NM_003183.6(ADAM17): c.2017G> A (p.Val673Ile) single nucleotide variant Benign rs61754177 2:9633092-9633092 2:9492963-9492963
40 ADAM17 NM_003183.6(ADAM17): c.604A> G (p.Arg202Gly) single nucleotide variant Benign rs2230818 2:9667930-9667930 2:9527801-9527801
41 ADAM17 NM_003183.6(ADAM17): c.1695T> C (p.Thr565=) single nucleotide variant Benign rs56237316 2:9637331-9637331 2:9497202-9497202
42 ADAM17 NM_003183.6(ADAM17): c.2243C> T (p.Ala748Val) single nucleotide variant Benign rs79932015 2:9630538-9630538 2:9490409-9490409
43 ADAM17 NM_003183.6(ADAM17): c.2073C> T (p.Val691=) single nucleotide variant Benign rs34355677 2:9633036-9633036 2:9492907-9492907
44 ADAM17 NM_003183.6(ADAM17): c.844-5T> C single nucleotide variant Benign rs201461814 2:9661450-9661450 2:9521321-9521321

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 IAH1 ADAM17

Sources for Inflammatory Skin and Bowel Disease, Neonatal, 1

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