MCID: INF146
MIFTS: 20

Inflammatory Skin and Bowel Disease, Neonatal, 2

Categories: Genetic diseases, Skin diseases, Gastrointestinal diseases, Bone diseases, Blood diseases, Rare 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 57 75 29 6 73
Nisbd2 57 75
Inflammatory Skin and Bowel Disease, Neonatal, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
inflammatory skin and bowel disease, neonatal, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Inflammatory Skin and Bowel Disease, Neonatal, 2

UniProtKB/Swiss-Prot : 75 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 long eyelashes and hypertension

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension
deep vein thromoboses

Abdomen Gastrointestinal:
vomiting
diarrhea, watery
severe dehydration

Skin Nails Hair Hair:
trichomegaly
loss of scalp hair

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

Respiratory Lung:
recurrent pulmonary infections

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

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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 long eyelashes 32 HP:0000527
2 hypertension 32 HP:0000822
3 failure to thrive 32 HP:0001508
4 vomiting 32 HP:0002013
5 recurrent pneumonia 32 HP:0006532
6 epidermal acanthosis 32 HP:0025092
7 recurrent bronchiolitis 32 HP:0100501
8 papule 32 HP:0200034
9 pustule 32 HP:0200039

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:

41
Skin, Kidney

Publications for Inflammatory Skin and Bowel Disease, Neonatal, 2

Variations for Inflammatory Skin and Bowel Disease, Neonatal, 2

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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