Neonatal inflammatory skin and bowel disease

General Information (adopted from Orphanet):

Synonyms, Signs: NISBD
Number of Symptoms 34
OrphanetNr: 294023
OMIM Id: 614328
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic intestinal disease
 -Rare genetic disease
Other epidermis disorder
 -Rare skin disease
Other genetic epidermal disease
 -Rare genetic disease
Rare inflammatory bowel disease
 -Rare gastroenterologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000498) Blepharitis 27 / 7739
2
 (HPO:0002014) Diarrhea 225 / 7739
3
 (HPO:0002573) Hematochezia 18 / 7739
4
 (HPO:0011473) Villous atrophy 14 / 7739
5
 (HPO:0001805) Thick nail 96 / 7739
6
 (HPO:0010783) Erythema 138 / 7739
7
 (HPO:0001818) Paronychia 6 / 7739
8
 (HPO:0200039) Pustule 20 / 7739
9
 (HPO:0001019) Erythroderma 24 / 7739
10
 (HPO:0001880) Eosinophilia 35 / 7739
11
 (OMIM) Perivascular lymphocytic infiltrate involving vessels of papillary dermis 1 / 7739
12
 (OMIM) No evidence of immunodeficiency 1 / 7739
13
 (OMIM) Pigment incontinence 1 / 7739
14
 (OMIM) Eyebrows wiry and disorganized 1 / 7739
15
 (OMIM) Erythroderma, psoriasiform 1 / 7739
16
 (OMIM) Severe weathering of hair shaft 1 / 7739
17
 (OMIM) Eyelashes wiry and disorganized 1 / 7739
18
 (OMIM) Patchy vacuolization of basal layer 1 / 7739
19
 (OMIM) Left ventricular dilation 13 / 7739
20
 (OMIM) Frequent paronychia due to candida and pseudomonas infections 1 / 7739
21
 (OMIM) Mucosal eosinophilia 1 / 7739
22
 (MedDRA:10056273) Perianal erythema 1 / 7739
23
 (MedDRA:10040849) Skin fissures 3 / 7739
24
 (OMIM) Otitis externa, recurrent, due to infection with Staphylococcus aureus 1 / 7739
25
 (OMIM) Diarrhea, malabsorptive 1 / 7739
26
 (OMIM) Erythema, perioral 2 / 7739
27
 (OMIM) Plasma cell duodenitis 1 / 7739
28
 (OMIM) Markedly damaged cuticle of hair 1 / 7739
29
 (OMIM) Flares of erythema, scaling, and pustules 1 / 7739
30
 (OMIM) Short or broken hair 1 / 7739
31
 (OMIM) Blepharitis, recurrent, due to infection with Staphylococcus aureus 1 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (OMIM) Moderately elevated IgE 1 / 7739
34
 (OMIM) Crypt hyperplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Blaydon et al. (2011) reported a brother and sister, born of first-cousin parents of Lebanese origin, with neonatal inflammatory skin and bowel disease. The skin lesions, which developed on the second day of life, involved perioral and perianal ...
Molecular genetics OMIM In an affected brother and sister from a consanguineous family of Lebanese origin with neonatal inflammatory skin and bowel disease, Blaydon et al. (2011) performed SNP-homozygosity mapping followed by targeted next-generation sequencing and identified homozygosity for a 4-bp ...