NISBD1
MCID: INF144
MIFTS: 26

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

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Neuronal 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 73 71
Inflammatory Skin and Bowel Disease, Neonatal 1 29 6
Nisbd1 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
inflammatory skin and bowel disease, neonatal, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Inflammatory Skin and Bowel Disease, Neonatal, 1

UniProtKB/Swiss-Prot : 73 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 failure to thrive 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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 blepharitis 31 very rare (1%) HP:0000498
3 erythroderma 31 very rare (1%) HP:0001019
4 pustule 31 very rare (1%) HP:0200039
5 paronychia 31 very rare (1%) HP:0001818
6 onychogryposis 31 very rare (1%) HP:0001805
7 villous atrophy 31 very rare (1%) HP:0011473
8 bloody diarrhea 31 very rare (1%) HP:0025085
9 otitis externa 31 very rare (1%) HP:0410017
10 increased circulating ige level 31 very rare (1%) HP:0003212
11 duodenitis 31 very rare (1%) HP:0033117
12 perioral erythema 31 very rare (1%) HP:0033194
13 perianal erythema 31 very rare (1%) HP:0033195

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 8.62 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:

40
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. 6 57
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 top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAM17 NM_003183.6(ADAM17):c.1975_1993+4del Deletion Pathogenic 852789 2:9633872-9633894 2:9493743-9493765
2 ADAM17 NM_003183.6(ADAM17):c.1645del (p.Thr549fs) Deletion Pathogenic 640542 rs1572897958 2:9642305-9642305 2:9502176-9502176
3 ADAM17 NM_003183.6(ADAM17):c.1793dup (p.Asn598fs) Duplication Pathogenic 857427 2:9634886-9634887 2:9494757-9494758
4 ADAM17 NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) Deletion Pathogenic 30374 rs387906866 2:9667928-9667931 2:9527799-9527802
5 ADAM17 NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs) Insertion Uncertain significance 951710 2:9630608-9630609 2:9490479-9490480
6 ADAM17 NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn) SNV Uncertain significance 643543 rs774191569 2:9645344-9645344 2:9505215-9505215
7 ADAM17 NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala) SNV Uncertain significance 644916 rs1572880990 2:9634863-9634863 2:9494734-9494734
8 ADAM17 NM_003183.6(ADAM17):c.754-6A>G SNV Uncertain significance 644922 rs757613548 2:9663473-9663473 2:9523344-9523344
9 ADAM17 NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala) SNV Uncertain significance 645625 rs770400357 2:9676012-9676012 2:9535883-9535883
10 ADAM17 NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn) SNV Uncertain significance 646830 rs777722013 2:9650125-9650125 2:9509996-9509996
11 ADAM17 NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr) SNV Uncertain significance 647783 rs1184105835 2:9637308-9637308 2:9497179-9497179
12 ADAM17 NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg) SNV Uncertain significance 647890 rs749144062 2:9695676-9695676 2:9555547-9555547
13 ADAM17 NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro) SNV Uncertain significance 648182 rs1361814499 2:9683333-9683333 2:9543204-9543204
14 ADAM17 NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys) SNV Uncertain significance 648768 rs370064783 2:9630569-9630569 2:9490440-9490440
15 ADAM17 NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn) SNV Uncertain significance 652205 rs749860291 2:9630401-9630401 2:9490272-9490272
16 ADAM17 NM_003183.6(ADAM17):c.1192-5dup Duplication Uncertain significance 653758 rs374848572 2:9650263-9650264 2:9510134-9510135
17 ADAM17 NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys) SNV Uncertain significance 658279 rs764050476 2:9630344-9630344 2:9490215-9490215
18 ADAM17 NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg) SNV Uncertain significance 659816 rs775793715 2:9695646-9695646 2:9555517-9555517
19 ADAM17 NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg) SNV Uncertain significance 660182 rs139401611 2:9667998-9667998 2:9527869-9527869
20 ADAM17 NM_003183.6(ADAM17):c.1993+4G>T SNV Uncertain significance 660946 rs376877494 2:9633872-9633872 2:9493743-9493743
21 ADAM17 NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys) SNV Uncertain significance 661121 rs1204442125 2:9668005-9668005 2:9527876-9527876
22 ADAM17 NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly) SNV Uncertain significance 539949 rs144657795 2:9633899-9633899 2:9493770-9493770
23 ADAM17 NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr) SNV Uncertain significance 573989 rs373192089 2:9666341-9666341 2:9526212-9526212
24 ADAM17 NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn) SNV Uncertain significance 575937 rs751381392 2:9630481-9630481 2:9490352-9490352
25 ADAM17 NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys) SNV Uncertain significance 644241 rs780557617 2:9637279-9637279 2:9497150-9497150
26 ADAM17 NM_003183.6(ADAM17):c.514A>G (p.Ile172Val) SNV Uncertain significance 934942 2:9668020-9668020 2:9527891-9527891
27 ADAM17 NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser) SNV Uncertain significance 936688 2:9633106-9633106 2:9492977-9492977
28 ADAM17 NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala) SNV Uncertain significance 939993 2:9630590-9630590 2:9490461-9490461
29 ADAM17 NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys) SNV Uncertain significance 945675 2:9676872-9676872 2:9536743-9536743
30 ADAM17 NM_003183.6(ADAM17):c.2174G>A (p.Arg725His) SNV Uncertain significance 946680 2:9630607-9630607 2:9490478-9490478
31 ADAM17 NM_003183.6(ADAM17):c.1510A>G (p.Ser504Gly) SNV Uncertain significance 949324 2:9645329-9645329 2:9505200-9505200
32 ADAM17 NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) SNV Uncertain significance 636649 rs199755899 2:9658101-9658101 2:9517972-9517972
33 ADAM17 NM_003183.6(ADAM17):c.1723G>C (p.Asp575His) SNV Uncertain significance 950363 2:9637303-9637303 2:9497174-9497174
34 ADAM17 NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro) SNV Uncertain significance 955729 2:9630473-9630473 2:9490344-9490344
35 ADAM17 NM_003183.6(ADAM17):c.1829G>A (p.Arg610His) SNV Uncertain significance 955738 2:9634851-9634851 2:9494722-9494722
36 ADAM17 NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala) SNV Uncertain significance 956810 2:9658107-9658107 2:9517978-9517978
37 ADAM17 NM_003183.6(ADAM17):c.1931G>A (p.Arg644Gln) SNV Uncertain significance 957779 2:9633938-9633938 2:9493809-9493809
38 ADAM17 NM_003183.6(ADAM17):c.2438G>A (p.Arg813His) SNV Uncertain significance 961964 2:9630343-9630343 2:9490214-9490214
39 ADAM17 NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val) SNV Uncertain significance 964276 2:9658089-9658089 2:9517960-9517960
40 ADAM17 NM_003183.6(ADAM17):c.1345-3A>G SNV Uncertain significance 969972 2:9645497-9645497 2:9505368-9505368
41 ADAM17 NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly) SNV Uncertain significance 575199 rs1048485082 2:9634773-9634773 2:9494644-9494644
42 ADAM17 NM_003183.6(ADAM17):c.1331A>G (p.His444Arg) SNV Uncertain significance 577914 rs1558506921 2:9650121-9650121 2:9509992-9509992
43 ADAM17 NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys) SNV Uncertain significance 853870 2:9630461-9630461 2:9490332-9490332
44 ADAM17 NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp) SNV Uncertain significance 855909 2:9675979-9675979 2:9535850-9535850
45 ADAM17 NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser) SNV Uncertain significance 858793 2:9633884-9633884 2:9493755-9493755
46 ADAM17 NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg) SNV Uncertain significance 861326 2:9661345-9661345 2:9521216-9521216
47 ADAM17 NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu) SNV Uncertain significance 862057 2:9630385-9630385 2:9490256-9490256
48 ADAM17 NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe) SNV Uncertain significance 862911 2:9630497-9630497 2:9490368-9490368
49 ADAM17 NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys) SNV Uncertain significance 863551 2:9630335-9630335 2:9490206-9490206
50 ADAM17 NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu) SNV Uncertain significance 472728 rs1553364641 2:9666288-9666288 2:9526159-9526159

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

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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