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URDS
MCID: LTB003
MIFTS: 23

Ltbp4-Related Cutis Laxa (URDS)

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, Respiratory diseases, Skin diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ltbp4-Related Cutis Laxa

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MalaCards integrated aliases for Ltbp4-Related Cutis Laxa:

Name: Ltbp4-Related Cutis Laxa 25
Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities 71
Autosomal Recessive Cutis Laxa Type 1c 25
Urban-Rifkin-Davis Syndrome 25
Arcl1c 25
Urds 25

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C2750804
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Summaries for Ltbp4-Related Cutis Laxa

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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 diaphragmatic eventration, and has symptoms including periorbital swelling An important gene associated with Ltbp4-Related Cutis Laxa is LTBP4 (Latent Transforming Growth Factor Beta Binding Protein 4). The drugs alemtuzumab and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and monocytes.

GeneReviews: NBK343782
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Related Diseases for Ltbp4-Related Cutis Laxa

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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 Autosomal Recessive Cutis Laxa Type 2

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

# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ic 11.3
2 diaphragmatic eventration 10.3
3 gastroesophageal reflux 10.2
4 diaphragmatic hernia, congenital 10.2
5 inguinal hernia 10.2
6 hydronephrosis 10.2
7 cutis laxa 10.2
8 pulmonary emphysema 10.2

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



Diseases related to Ltbp4-Related Cutis Laxa
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Symptoms & Phenotypes for Ltbp4-Related Cutis Laxa

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UMLS symptoms related to Ltbp4-Related Cutis Laxa:


periorbital swelling
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Drugs & Therapeutics for Ltbp4-Related Cutis Laxa

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Drugs for Ltbp4-Related Cutis Laxa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2 Immunosuppressive Agents Phase 2, Phase 3
3 Immunologic Factors Phase 2, Phase 3
4 Antirheumatic Agents Phase 2, Phase 3
5 Antimetabolites Phase 2, Phase 3
6 Alkylating Agents Phase 2, Phase 3
7 Antineoplastic Agents, Immunological Phase 2, Phase 3
8
tannic acid Approved Phase 2 1401-55-4
9 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
10
Allopurinol Approved Phase 2 315-30-0 2094
11
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
12
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
13
Acetaminophen Approved Phase 2 103-90-2 1983
14
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
15
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
16
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
17
Promethazine Approved, Investigational Phase 2 60-87-7 4927
18
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
19
Mycophenolic acid Approved Phase 2 24280-93-1 446541
20
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
21
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
22 Protective Agents Phase 2
23 Antioxidants Phase 2
24 Methylprednisolone Acetate Phase 2
25 Antibiotics, Antitubercular Phase 2
26 Antitubercular Agents Phase 2
27 Anti-Infective Agents Phase 2
28 Anti-Bacterial Agents Phase 2
29 Antilymphocyte Serum Phase 2
30 Calcineurin Inhibitors Phase 2
31
Fludarabine Approved 21679-14-1, 75607-67-9 30751
32
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
33
Busulfan Approved, Investigational 55-98-1 2478
34
Thiotepa Approved, Investigational 52-24-4 5453
35 Cyclosporins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Allogeneic Hematopoietic Stem Cell Transplantation For Severe Osteopetrosis Completed NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
2 Pilot and Feasibility Study of Reduced-Intensity Hematopoietic Stem Cell Transplant for Patients With GATA2 Mutations Completed NCT00923364 Phase 2 Cyclophosphamide (CTX, Cytoxan);Fludarabine(Fludara,Berlex Laboratories);Equine Anti-Thymocyte Globulin
3 Allogeneic Hematopoietic Stem Cell Transplantation Using Reduced Intensity Conditioning (RIC) for the Treatment of Hematological Diseases [MT2015-32] Recruiting NCT02661035 Phase 2 Allopurinol;Fludarabine;Cyclophosphamide;ATG;Tacrolimus;MMF
4 Very Low-dose Total Body Irradiation in Combination With Total Lymphoid Irradiation and Anti-Thymocyte Globulin to Improve Donor Engraftment in Patients Undergoing Non-Myeloablative Hematopoietic Cell Transplantation Active, not recruiting NCT03734601 Phase 2 Anti-thymocyte globulin (ATG);Tacrolimus;Mycophenolate mofetil (MMF)
5 KIR Genotyping for Unrelated Donor (URD) Selection Prior to Hematopoietic Cell Transplantation (HCT) for AML: Selecting a Favorable KIR Donor Completed NCT01288222
6 Randomized Clinical Study of Haplo-Identical Donors Versus Unrelated Donors in Hematopoietic Stem Cell Transplant Patients With Acute Myeloid Leukemia Recruiting NCT04067180

Search 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

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

40
Bone Marrow, Myeloid, Monocytes
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Publications for Ltbp4-Related Cutis Laxa

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Articles related to Ltbp4-Related Cutis Laxa:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. 25
25882708 2015
2
Function of latent TGFβ binding protein 4 and fibulin 5 in elastogenesis and lung development. 25
24962333 2015
3
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 25
24913064 2014
4
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 25
24035636 2013
5
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. 25
23440719 2013
6
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. 25
23442826 2013
7
Latent TGF-β binding protein 4 promotes elastic fiber assembly by interacting with fibulin-5. 25
23382201 2013
8
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 25
22829427 2013
9
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 25
22773132 2012
10
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 25
22411858 2012
11
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 25
21309044 2011
12
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 25
21204221 2011
13
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). 25
20424861 2010
14
Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. 25
19884661 2009
15
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 25
19836010 2009
16
Mutations in PYCR1 cause cutis laxa with progeroid features. 25
19648921 2009
17
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 25
19631308 2009
18
Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. 25
19016471 2009
19
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 25
18997784 2008
20
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 25
18157129 2008
21
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 25
16085695 2006
22
Disruption of the gene encoding the latent transforming growth factor-beta binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer. 25
12208849 2002
23
Allogeneic hematopoietic stem cell transplantation for advanced mycosis fungoides and Sézary syndrome. An updated experience of the Lymphoma Working Party of the European Society for Blood and Marrow Transplantation. 61
33420392 2021
24
Health-Related Quality-of-Life Comparison of Adult Related and Unrelated HSC Donors: An RDSafe Study. 61
32829080 2020
25
Frequencies and haplotype associations of non-expressed HLA alleles in ethnically diverse populations on the National Marrow Donor Program's Be The Match Registry. 61
32684409 2020
26
Unrelated Donor Transplant Recipients Given Thymoglobuline Have Superior GRFS When Compared to Matched Related Donor Recipients Undergoing Transplantation without ATG. 61
32640314 2020
27
The Impact of Donor Type on Outcomes and Cost of Allogeneic Hematopoietic Cell Transplantation for Pediatric Leukemia: A Merged Center for International Blood and Marrow Transplant Research and Pediatric Health Information System Analysis. 61
32464284 2020
28
Catalytic RNA nano-objects formed by self-assembly of group I ribozyme dimers serving as unit structures. 61
32451246 2020
29
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network. 61
32928283 2020
30
Comparable Outcomes Between Unrelated and Haploidentical Stem Cell Transplantation in Adult Patients With Severe Aplastic Anemia. 61
32639401 2020
31
A Phase 2 Trial of KIR-Mismatched Unrelated Donor Transplantation Using in Vivo T Cell Depletion with Antithymocyte Globulin in Acute Myelogenous Leukemia: Children's Oncology Group AAML05P1 Study. 61
31870931 2020
32
The Undiagnosed Diseases Network International: Five years and more! 61
32033911 2020
33
Investigation of donor KIR content and matching in children undergoing hematopoietic cell transplantation for acute leukemia. 61
32267930 2020
34
Comparable Outcomes after Hematopoietic Stem Cell Transplantation from Mother Donors and Matched Unrelated Donors in Patients with Hematopoietic Malignancies. 61
30708190 2019
35
Racial disparities in access to HLA-matched unrelated donor transplants: a prospective 1312-patient analysis. 61
30917950 2019
36
KIR Donor Selection: Feasibility in Identifying better Donors. 61
30149149 2019
37
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? 61
30665446 2019
38
Allocation to Matched Related or Unrelated Donor Results in Similar Clinical Outcomes without Increased Risk of Failure to Proceed to Transplant among Patients with Acute Myeloid Leukemia: A Retrospective Analysis from the Time of Transplant Approval. 61
30153492 2019
39
Allogeneic stem cell transplantation from unrelated donors in acute leukaemia. 61
30222641 2018
40
Development of an Unrelated Donor Selection Score Predictive of Survival after HCT: Donor Age Matters Most. 61
29454040 2018
41
Validation of an Algorithm to Predict the Likelihood of an 8/8 HLA-Matched Unrelated Donor at Search Initiation. 61
29287807 2018
42
Graft-versus-host disease in recipients of male unrelated donor compared with parous female sibling donor transplants. 61
29739773 2018
43
Comparing outcomes of matched related donor and matched unrelated donor hematopoietic cell transplants in adults with B-Cell acute lymphoblastic leukemia. 61
28452054 2017
44
Physicochemical and biological characterization of sustained isopropyl unoprostone-release device made of poly(ethyleneglycol) dimethacrylates. 61
28534288 2017
45
Prospective Evaluation of Unrelated Donor Cord Blood and Haploidentical Donor Access Reveals Graft Availability Varies by Patient Ancestry: Practical Implications for Donor Selection. 61
28263918 2017
46
Identification of a 10/10 matched donor for patients with an uncommon haplotype is unlikely. 61
28102042 2017
47
Sensitivity of self-reported opioid use in case-control studies: Healthy individuals versus hospitalized patients. 61
28854228 2017
48
Long-Term Protection of Genetically Ablated Rabbit Retinal Degeneration by Sustained Transscleral Unoprostone Delivery. 61
27918826 2016
49
High-Resolution Match Rate of 7/8 and 9/10 or Better for the Be The Match Unrelated Donor Registry. 61
26724431 2016
50
LTBP4-Related Cutis Laxa 61
26866239 2016
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Variations for Ltbp4-Related Cutis Laxa

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Expression for Ltbp4-Related Cutis Laxa

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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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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