MCID: CTN018
MIFTS: 15

Cutaneous Photosensitivity and Colitis, Lethal

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Cutaneous Photosensitivity and Colitis, Lethal

MalaCards integrated aliases for Cutaneous Photosensitivity and Colitis, Lethal:

Name: Cutaneous Photosensitivity and Colitis, Lethal 58 54 30
Early Cutaneous Photosensitivity and Severe Colitis 54
Cutaneous Photosensitivity-Lethal Colitis Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cutaneous photosensitivity-lethal colitis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cutaneous photosensitivity and colitis, lethal:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 219095
MESH via Orphanet 46 C536224
ICD10 via Orphanet 35 L57.8
UMLS via Orphanet 75 C1857449
Orphanet 60 ORPHA2881
MedGen 43 C1857449

Summaries for Cutaneous Photosensitivity and Colitis, Lethal

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2881Disease definitionCutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease (see this term) characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cutaneous Photosensitivity and Colitis, Lethal, is also known as early cutaneous photosensitivity and severe colitis. Affiliated tissues include skin, and related phenotypes are diarrhea and erythema

Description from OMIM: 219095

Related Diseases for Cutaneous Photosensitivity and Colitis, Lethal

Symptoms & Phenotypes for Cutaneous Photosensitivity and Colitis, Lethal

Human phenotypes related to Cutaneous Photosensitivity and Colitis, Lethal:

33
# Description HPO Frequency HPO Source Accession
1 diarrhea 33 HP:0002014
2 erythema 33 HP:0010783
3 colitis 33 HP:0002583
4 early cutaneous photosensitivity 33 HP:0007396

Symptoms via clinical synopsis from OMIM:

58
Misc:
death in infancy

G I:
severe colitis
refractory diarrhea

Skin:
erythema
early cutaneous photosensitivity
vesicles

Lab:
normal plasma zinc

Clinical features from OMIM:

219095

Drugs & Therapeutics for Cutaneous Photosensitivity and Colitis, Lethal

Search Clinical Trials , NIH Clinical Center for Cutaneous Photosensitivity and Colitis, Lethal

Genetic Tests for Cutaneous Photosensitivity and Colitis, Lethal

Genetic tests related to Cutaneous Photosensitivity and Colitis, Lethal:

# Genetic test Affiliating Genes
1 Cutaneous Photosensitivity and Colitis, Lethal 30

Anatomical Context for Cutaneous Photosensitivity and Colitis, Lethal

MalaCards organs/tissues related to Cutaneous Photosensitivity and Colitis, Lethal:

42
Skin

Publications for Cutaneous Photosensitivity and Colitis, Lethal

Variations for Cutaneous Photosensitivity and Colitis, Lethal

Expression for Cutaneous Photosensitivity and Colitis, Lethal

Search GEO for disease gene expression data for Cutaneous Photosensitivity and Colitis, Lethal.

Pathways for Cutaneous Photosensitivity and Colitis, Lethal

GO Terms for Cutaneous Photosensitivity and Colitis, Lethal

Sources for Cutaneous Photosensitivity and Colitis, Lethal

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....