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 56 73 71
Inflammatory Skin and Bowel Disease, Neonatal 1 29 6
Nisbd1 56 73

Characteristics:

OMIM:

56
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 bone, 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 erythema 31 HP:0010783
2 blepharitis 31 HP:0000498
3 hematochezia 31 HP:0002573
4 erythroderma 31 HP:0001019
5 eosinophilia 31 HP:0001880
6 pustule 31 HP:0200039
7 paronychia 31 HP:0001818
8 villous atrophy 31 HP:0011473
9 otitis externa 31 HP:0410017
10 onychogryposis 31 HP:0001805

Symptoms via clinical synopsis from OMIM:

56
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:

45
# 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

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

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

40
Skin, Bone

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. 56 6
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 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAM17 NM_003183.6(ADAM17):c.603_606del (p.Asp201fs)deletion Pathogenic 30374 rs387906866 2:9667928-9667931 2:9527799-9527802
2 ADAM17 NM_003183.6(ADAM17):c.1645del (p.Thr549fs)deletion Pathogenic 640542 2:9642305-9642305 2:9502176-9502176
3 ADAM17 NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn)SNV Uncertain significance 643543 2:9645344-9645344 2:9505215-9505215
4 ADAM17 NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn)SNV Uncertain significance 646830 2:9650125-9650125 2:9509996-9509996
5 ADAM17 NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg)SNV Uncertain significance 660182 2:9667998-9667998 2:9527869-9527869
6 ADAM17 NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys)SNV Uncertain significance 661121 2:9668005-9668005 2:9527876-9527876
7 ADAM17 NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala)SNV Uncertain significance 645625 2:9676012-9676012 2:9535883-9535883
8 ADAM17 NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro)SNV Uncertain significance 648182 2:9683333-9683333 2:9543204-9543204
9 ADAM17 NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg)SNV Uncertain significance 659816 2:9695646-9695646 2:9555517-9555517
10 ADAM17 NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg)SNV Uncertain significance 647890 2:9695676-9695676 2:9555547-9555547
11 ADAM17 NM_003183.6(ADAM17):c.1192-5dupduplication Uncertain significance 653758 2:9650263-9650264 2:9510134-9510135
12 ADAM17 NM_003183.6(ADAM17):c.754-6A>GSNV Uncertain significance 644922 2:9663473-9663473 2:9523344-9523344
13 ADAM17 NM_003183.6(ADAM17):c.1993+4G>TSNV Uncertain significance 660946 2:9633872-9633872 2:9493743-9493743
14 ADAM17 NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile)SNV Uncertain significance 472725 rs1553356735 2:9633950-9633950 2:9493821-9493821
15 ADAM17 NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu)SNV Uncertain significance 472728 rs1553364641 2:9666288-9666288 2:9526159-9526159
16 ADAM17 NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser)SNV Uncertain significance 472723 rs554069834 2:9645308-9645308 2:9505179-9505179
17 ADAM17 NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly)SNV Uncertain significance 539949 rs144657795 2:9633899-9633899 2:9493770-9493770
18 ADAM17 NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn)SNV Uncertain significance 539950 rs758594009 2:9633909-9633909 2:9493780-9493780
19 ADAM17 NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro)SNV Uncertain significance 539948 rs761391373 2:9630365-9630365 2:9490236-9490236
20 ADAM17 NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly)SNV Uncertain significance 575199 rs1048485082 2:9634773-9634773 2:9494644-9494644
21 ADAM17 NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn)SNV Uncertain significance 575937 rs751381392 2:9630481-9630481 2:9490352-9490352
22 ADAM17 NM_003183.6(ADAM17):c.1520C>T (p.Thr507Met)SNV Uncertain significance 577592 rs780454096 2:9645319-9645319 2:9505190-9505190
23 ADAM17 NM_003183.6(ADAM17):c.1511G>A (p.Ser504Asn)SNV Uncertain significance 571807 rs200446953 2:9645328-9645328 2:9505199-9505199
24 ADAM17 NM_003183.6(ADAM17):c.1331A>G (p.His444Arg)SNV Uncertain significance 577914 rs1558506921 2:9650121-9650121 2:9509992-9509992
25 ADAM17 NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr)SNV Uncertain significance 573989 rs373192089 2:9666341-9666341 2:9526212-9526212
26 ADAM17 NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu)SNV Uncertain significance 574146 rs144458353 2:9695682-9695682 2:9555553-9555553
27 ADAM17 NM_003183.6(ADAM17):c.46C>G (p.Leu16Val)SNV Uncertain significance 577404 rs768569416 2:9695689-9695689 2:9555560-9555560
28 ADAM17 NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys)SNV Uncertain significance 658279 2:9630344-9630344 2:9490215-9490215
29 ADAM17 NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn)SNV Uncertain significance 652205 2:9630401-9630401 2:9490272-9490272
30 ADAM17 NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys)SNV Uncertain significance 648768 2:9630569-9630569 2:9490440-9490440
31 ADAM17 NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala)SNV Uncertain significance 644916 2:9634863-9634863 2:9494734-9494734
32 ADAM17 NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys)SNV Uncertain significance 644241 2:9637279-9637279 2:9497150-9497150
33 ADAM17 NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr)SNV Uncertain significance 647783 2:9637308-9637308 2:9497179-9497179
34 ADAM17 NM_003183.6(ADAM17):c.354C>T (p.His118=)SNV Likely benign 539954 rs373534760 2:9676834-9676834 2:9536705-9536705
35 ADAM17 NM_003183.6(ADAM17):c.867A>G (p.Gln289=)SNV Likely benign 472730 rs1553363787 2:9661422-9661422 2:9521293-9521293
36 ADAM17 NM_003183.6(ADAM17):c.604A>G (p.Arg202Gly)SNV Benign 472727 rs2230818 2:9667930-9667930 2:9527801-9527801
37 ADAM17 NM_003183.6(ADAM17):c.1695T>C (p.Thr565=)SNV Benign 472724 rs56237316 2:9637331-9637331 2:9497202-9497202

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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