MCID: CTN018
MIFTS: 16

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 57 53 29
Early Cutaneous Photosensitivity and Severe Colitis 53
Cutaneous Photosensitivity-Lethal Colitis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cutaneous photosensitivity-lethal colitis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cutaneous photosensitivity and colitis, lethal:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 219095
Orphanet 59 ORPHA2881
MESH via Orphanet 45 C536224
UMLS via Orphanet 74 C1857449
ICD10 via Orphanet 34 L57.8
MedGen 42 C1857449

Summaries for Cutaneous Photosensitivity and Colitis, Lethal

NIH Rare Diseases : 53 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cutaneous Photosensitivity and Colitis, Lethal:

32
# Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 erythema 32 HP:0010783
3 colitis 32 HP:0002583
4 early cutaneous photosensitivity 32 HP:0007396

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 29

Anatomical Context for Cutaneous Photosensitivity and Colitis, Lethal

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

41
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 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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