Cutaneous photosensitivity - lethal colitis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 2881
OMIM Id: 219095
ICD-10: L57.8
UMLs: C1857449
MeSH: C536224
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare inflammatory bowel disease
 -Rare gastroenterologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
2
 (HPO:0002014) Diarrhea 225 / 7739
3
 (HPO:0002583) Colitis 9 / 7739
4
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
5
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
6
 (HPO:0200037) Skin vesicle 102 / 7739
7
 (HPO:0010783) Erythema 138 / 7739
8
 (HPO:0007396) Early cutaneous photosensitivity 1 / 7739
9
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
10
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
11
 (OMIM) Normal plasma zinc 1 / 7739
12
 (OMIM) Refractory diarrhea 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0001522) Death in infancy 275 / 7739
15
 (OMIM) Severe colitis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: