NISBD2
MCID: INF146
MIFTS: 20

Inflammatory Skin and Bowel Disease, Neonatal, 2 (NISBD2)

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

Aliases & Classifications for Inflammatory Skin and Bowel Disease, Neonatal, 2

MalaCards integrated aliases for Inflammatory Skin and Bowel Disease, Neonatal, 2:

Name: Inflammatory Skin and Bowel Disease, Neonatal, 2 56 73 29 6 71
Nisbd2 56 73
Inflammatory Skin and Bowel Disease, Neonatal, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of one polish roma patient (last curated november 2014)


HPO:

31
inflammatory skin and bowel disease, neonatal, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Inflammatory Skin and Bowel Disease, Neonatal, 2

UniProtKB/Swiss-Prot : 73 Inflammatory skin and bowel disease, neonatal, 2: 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, 2, is also known as nisbd2, and has symptoms including vomiting and watery diarrhea. An important gene associated with Inflammatory Skin and Bowel Disease, Neonatal, 2 is EGFR (Epidermal Growth Factor Receptor). Affiliated tissues include skin and kidney, and related phenotypes are hypertension and failure to thrive

More information from OMIM: 616069 PS614328

Related Diseases for Inflammatory Skin and Bowel Disease, Neonatal, 2

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, 2

Human phenotypes related to Inflammatory Skin and Bowel Disease, Neonatal, 2:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 failure to thrive 31 HP:0001508
3 dehydration 31 HP:0001944
4 vomiting 31 HP:0002013
5 edema 31 HP:0000969
6 papule 31 HP:0200034
7 diarrhea 31 HP:0002014
8 recurrent pneumonia 31 HP:0006532
9 long eyelashes 31 HP:0000527
10 pustule 31 HP:0200039
11 epidermal acanthosis 31 HP:0025092
12 recurrent bronchiolitis 31 HP:0100501

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
hypertension
deep vein thromoboses

Abdomen Gastrointestinal:
vomiting
diarrhea, watery
severe dehydration

Skin Nails Hair Skin:
papules
pustules
generalized erosions
frequent staphylococcus aureus infections

Respiratory Lung:
recurrent pulmonary infections

Head And Neck Eyes:
long eyelashes (trichomegaly)

Genitourinary Kidneys:
enlarged kidneys without obstruction

Immunology:
elevated ige levels

Growth Weight:
failure to thrive

Respiratory Airways:
recurrent bronchiolitis

Skin Nails Hair Skin Histology:
acanthosis, mild
widening between adjacent keratinocytes

Skin Nails Hair Hair:
trichomegaly
loss of scalp hair

Cardiovascular Heart:
coarcation of the aorta

Skin Nails Hair Skin Electron Microscopy:
intercellular edema from basal layer to mid-spinous layer
slight decrease in number of gap junctions

Clinical features from OMIM:

616069

UMLS symptoms related to Inflammatory Skin and Bowel Disease, Neonatal, 2:


vomiting, watery diarrhea

Drugs & Therapeutics for Inflammatory Skin and Bowel Disease, Neonatal, 2

Search Clinical Trials , NIH Clinical Center for Inflammatory Skin and Bowel Disease, Neonatal, 2

Genetic Tests for Inflammatory Skin and Bowel Disease, Neonatal, 2

Genetic tests related to Inflammatory Skin and Bowel Disease, Neonatal, 2:

# Genetic test Affiliating Genes
1 Inflammatory Skin and Bowel Disease, Neonatal, 2 29 EGFR

Anatomical Context for Inflammatory Skin and Bowel Disease, Neonatal, 2

MalaCards organs/tissues related to Inflammatory Skin and Bowel Disease, Neonatal, 2:

40
Skin, Kidney

Publications for Inflammatory Skin and Bowel Disease, Neonatal, 2

Articles related to Inflammatory Skin and Bowel Disease, Neonatal, 2:

(showing 1, show less)
# Title Authors PMID Year
1
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. 56 6
24691054 2014

Variations for Inflammatory Skin and Bowel Disease, Neonatal, 2

ClinVar genetic disease variations for Inflammatory Skin and Bowel Disease, Neonatal, 2:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EGFR NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp)SNV Pathogenic 157499 rs606231253 7:55225431-55225431 7:55157738-55157738

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Skin and Bowel Disease, Neonatal, 2:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 EGFR p.Gly428Asp VAR_072435 rs606231253

Expression for Inflammatory Skin and Bowel Disease, Neonatal, 2

Search GEO for disease gene expression data for Inflammatory Skin and Bowel Disease, Neonatal, 2.

Pathways for Inflammatory Skin and Bowel Disease, Neonatal, 2

GO Terms for Inflammatory Skin and Bowel Disease, Neonatal, 2

Sources for Inflammatory Skin and Bowel Disease, Neonatal, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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