MCID: LTB003
MIFTS: 17

Ltbp4-Related Cutis Laxa

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ltbp4-Related Cutis Laxa

MalaCards integrated aliases for Ltbp4-Related Cutis Laxa:

Name: Ltbp4-Related Cutis Laxa 25
Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities 74
Autosomal Recessive Cutis Laxa Type 1c 25
Urban-Rifkin-Davis Syndrome 25
Arcl1c 25
Urds 25

Classifications:



External Ids:

UMLS 74 C2750804

Summaries for Ltbp4-Related Cutis Laxa

MalaCards based summary : Ltbp4-Related Cutis Laxa, also known as cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, is related to cutis laxa, autosomal recessive, type ic and cutis laxa, and has symptoms including periorbital swelling Affiliated tissues include skin, bone and eye.

GeneReviews: NBK343782

Related Diseases for Ltbp4-Related Cutis Laxa

Graphical network of the top 20 diseases related to Ltbp4-Related Cutis Laxa:



Diseases related to Ltbp4-Related Cutis Laxa

Symptoms & Phenotypes for Ltbp4-Related Cutis Laxa

UMLS symptoms related to Ltbp4-Related Cutis Laxa:


periorbital swelling

Drugs & Therapeutics for Ltbp4-Related Cutis Laxa

Search Clinical Trials , NIH Clinical Center for Ltbp4-Related Cutis Laxa

Genetic Tests for Ltbp4-Related Cutis Laxa

Anatomical Context for Ltbp4-Related Cutis Laxa

MalaCards organs/tissues related to Ltbp4-Related Cutis Laxa:

42
Skin, Bone, Eye

Publications for Ltbp4-Related Cutis Laxa

Articles related to Ltbp4-Related Cutis Laxa:

# Title Authors Year
1
Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms. ( 25713297 )
2015

Variations for Ltbp4-Related Cutis Laxa

Expression for Ltbp4-Related Cutis Laxa

Search GEO for disease gene expression data for Ltbp4-Related Cutis Laxa.

Pathways for Ltbp4-Related Cutis Laxa

GO Terms for Ltbp4-Related Cutis Laxa

Sources for Ltbp4-Related Cutis Laxa

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
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