NISBD2
MCID: INF146
MIFTS: 21

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 58 76 30 6 74
Nisbd2 58 76
Inflammatory Skin and Bowel Disease, Neonatal, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
inflammatory skin and bowel disease, neonatal, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Inflammatory Skin and Bowel Disease, Neonatal, 2

UniProtKB/Swiss-Prot : 76 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, kidney and bone, and related phenotypes are hypertension and failure to thrive

Description from OMIM: 616069

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:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 failure to thrive 33 HP:0001508
3 dehydration 33 HP:0001944
4 vomiting 33 HP:0002013
5 edema 33 HP:0000969
6 diarrhea 33 HP:0002014
7 recurrent pneumonia 33 HP:0006532
8 papule 33 HP:0200034
9 long eyelashes 33 HP:0000527
10 pustule 33 HP:0200039
11 epidermal acanthosis 33 HP:0025092
12 recurrent bronchiolitis 33 HP:0100501

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension
deep vein thromoboses

Abdomen Gastrointestinal:
vomiting
diarrhea, watery
severe dehydration

Respiratory Lung:
recurrent pulmonary infections

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

Cardiovascular Heart:
coarcation of the aorta

Genitourinary Kidneys:
enlarged kidneys without obstruction

Immunology:
elevated ige levels

Growth Weight:
failure to thrive

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

Skin Nails Hair Hair:
trichomegaly
loss of scalp hair

Head And Neck Eyes:
long eyelashes (trichomegaly)

Respiratory Airways:
recurrent bronchiolitis

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 30 EGFR

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

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

42
Skin, Kidney, Bone

Publications for Inflammatory Skin and Bowel Disease, Neonatal, 2

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

# Title Authors Year
1
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. ( 24691054 )
2014

Variations for Inflammatory Skin and Bowel Disease, Neonatal, 2

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

76
# Symbol AA change Variation ID SNP ID
1 EGFR p.Gly428Asp VAR_072435 rs606231253

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EGFR NM_005228.4(EGFR): c.1283G> A (p.Gly428Asp) single nucleotide variant Pathogenic rs606231253 GRCh38 Chromosome 7, 55157738: 55157738
2 EGFR NM_005228.4(EGFR): c.1283G> A (p.Gly428Asp) single nucleotide variant Pathogenic rs606231253 GRCh37 Chromosome 7, 55225431: 55225431

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
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....