Ltbp4-Related Cutis Laxa disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Fetal diseases Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Eye diseases Neuronal diseases Bone diseases Cardiovascular diseases Gastrointestinal diseases Nephrological diseases Mental diseases Blood diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ C2750804

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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

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Related Diseases for Ltbp4-Related Cutis Laxa

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib	Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2	Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic	Cutis Laxa, Autosomal Recessive, Type Iid
Autosomal Recessive Cutis Laxa Type Iii	Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa	Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa	Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

Diseases related to Ltbp4-Related Cutis Laxa via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	cutis laxa, autosomal recessive, type ic	11.4
2	cutis laxa	10.3
3	hematopoietic stem cell transplantation	10.3
4	graft-versus-host disease	10.1
5	chronic graft versus host disease	10.1

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

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Symptoms & Phenotypes for Ltbp4-Related Cutis Laxa

UMLS symptoms related to Ltbp4-Related Cutis Laxa:

periorbital swelling

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Drugs & Therapeutics for Ltbp4-Related Cutis Laxa

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

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Genetic Tests for Ltbp4-Related Cutis Laxa

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Anatomical Context for Ltbp4-Related Cutis Laxa

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

⁴²

Skin, Bone, Eye

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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 )	Bultmann-Mellin I...Sterner-Kock A	2015

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Genes for Ltbp4-Related Cutis Laxa

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Variations for Ltbp4-Related Cutis Laxa

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Expression for Ltbp4-Related Cutis Laxa

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

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Pathways for Ltbp4-Related Cutis Laxa

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GO Terms for Ltbp4-Related Cutis Laxa

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Sources for Ltbp4-Related Cutis Laxa

¹ BioSystems

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

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⁴² MalaCards

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

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⁵⁶ Novoseek

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⁵⁸ OMIM

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⁶⁰ Orphanet

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⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia