URDS
MCID: LTB003
MIFTS: 24

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, Skin diseases

Aliases & Classifications for Ltbp4-Related Cutis Laxa

MalaCards integrated aliases for Ltbp4-Related Cutis Laxa:

Name: Ltbp4-Related Cutis Laxa 24
Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities 71
Autosomal Recessive Cutis Laxa Type 1c 24
Urban-Rifkin-Davis Syndrome 24
Arcl1c 24
Urds 24

Classifications:



External Ids:

UMLS 71 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 gastroesophageal reflux and diaphragmatic hernia, congenital, 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 Erythromycin and Pentostatin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone.

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

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 2 114-07-8 12560 441411
2
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
3
Adenosine Approved, Investigational Phase 2 58-61-7 60961
4
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
5
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
8
Mycophenolic acid Approved Phase 2 24280-93-1 446541
9 Erythromycin Estolate Phase 2
10 Erythromycin stearate Phase 2
11 Antifungal Agents Phase 2
12 Antiviral Agents Phase 2
13 Erythromycin Ethylsuccinate Phase 2
14 Dermatologic Agents Phase 2
15 Antirheumatic Agents Phase 2
16 Antimetabolites Phase 2
17 Antitubercular Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Immunosuppressive Agents Phase 2
20 Anti-Bacterial Agents Phase 2
21 Calcineurin Inhibitors Phase 2
22 Antibiotics, Antitubercular Phase 2
23 Antilymphocyte Serum Phase 2
24 Immunologic Factors Phase 2
25
Fludarabine Approved 21679-14-1, 75607-67-9 30751
26
Thiotepa Approved, Investigational 52-24-4 5453
27
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
28
Busulfan Approved, Investigational 55-98-1 2478
29 Cyclosporins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pentostatin and Donor Lymphocyte Infusion for Low Donor T-cell Chimerism After Hematopoietic Cell Transplantation - A Multi-center Trial Completed NCT00096161 Phase 2 Cyclosporine;Mycophenolate Mofetil;Pentostatin
2 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)
3 ABCA3 Gene Mutations in Late Preterm and Term Infants With Fatal Unexplained Respiratory Distress Syndrome Recruiting NCT04137783
4 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

Genetic Tests for Ltbp4-Related Cutis Laxa

Anatomical Context for Ltbp4-Related Cutis Laxa

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

40
Myeloid, Bone Marrow, Bone, T Cells, Lung, Testes, B Cells

Publications for Ltbp4-Related Cutis Laxa

Articles related to Ltbp4-Related Cutis Laxa:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. 24
25882708 2015
2
Function of latent TGFβ binding protein 4 and fibulin 5 in elastogenesis and lung development. 24
24962333 2015
3
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 24
24913064 2014
4
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 24
24035636 2013
5
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. 24
23440719 2013
6
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. 24
23442826 2013
7
Latent TGF-β binding protein 4 promotes elastic fiber assembly by interacting with fibulin-5. 24
23382201 2013
8
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 24
22829427 2013
9
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 24
22773132 2012
10
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 24
22411858 2012
11
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 24
21309044 2011
12
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 24
21204221 2011
13
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). 24
20424861 2010
14
Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. 24
19884661 2009
15
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 24
19836010 2009
16
Mutations in PYCR1 cause cutis laxa with progeroid features. 24
19648921 2009
17
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 24
19631308 2009
18
Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. 24
19016471 2009
19
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 24
18997784 2008
20
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 24
18157129 2008
21
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 24
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. 24
12208849 2002
23
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
24
Catalytic RNA nano-objects formed by self-assembly of group I ribozyme dimers serving as unit structures. 61
32451246 2020
25
The Undiagnosed Diseases Network International: Five years and more! 61
32033911 2020
26
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
27
Investigation of donor KIR content and matching in children undergoing hematopoietic cell transplantation for acute leukemia. 61
32267930 2020
28
Comparable Outcomes after Hematopoietic Stem Cell Transplantation from Mother Donors and Matched Unrelated Donors in Patients with Hematopoietic Malignancies. 61
30708190 2019
29
Racial disparities in access to HLA-matched unrelated donor transplants: a prospective 1312-patient analysis. 61
30917950 2019
30
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
31
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? 61
30665446 2019
32
KIR Donor Selection: Feasibility in Identifying better Donors. 61
30149149 2019
33
Allogeneic stem cell transplantation from unrelated donors in acute leukaemia. 61
30222641 2018
34
Validation of an Algorithm to Predict the Likelihood of an 8/8 HLA-Matched Unrelated Donor at Search Initiation. 61
29287807 2018
35
Development of an Unrelated Donor Selection Score Predictive of Survival after HCT: Donor Age Matters Most. 61
29454040 2018
36
Graft-versus-host disease in recipients of male unrelated donor compared with parous female sibling donor transplants. 61
29739773 2018
37
Comparing outcomes of matched related donor and matched unrelated donor hematopoietic cell transplants in adults with B-Cell acute lymphoblastic leukemia. 61
28452054 2017
38
Physicochemical and biological characterization of sustained isopropyl unoprostone-release device made of poly(ethyleneglycol) dimethacrylates. 61
28534288 2017
39
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
40
Identification of a 10/10 matched donor for patients with an uncommon haplotype is unlikely. 61
28102042 2017
41
Sensitivity of self-reported opioid use in case-control studies: Healthy individuals versus hospitalized patients. 61
28854228 2017
42
Long-Term Protection of Genetically Ablated Rabbit Retinal Degeneration by Sustained Transscleral Unoprostone Delivery. 61
27918826 2016
43
High-Resolution Match Rate of 7/8 and 9/10 or Better for the Be The Match Unrelated Donor Registry. 61
26724431 2016
44
LTBP4-Related Cutis Laxa 61
26866239 2016
45
Determining the value of medical technologies to treat ultra-rare disorders: a consensus statement. 61
27857828 2016
46
Characterization of toxicants in urban road dust by Toxicity Identification Evaluation using ostracod Heterocypris incongruens direct contact test. 61
26026413 2015
47
Haploidentical hematopoietic stem cell transplantation in children and adolescents with acquired severe aplastic anemia. 61
26213547 2015
48
The Evaluation of Economic Methods to Assess the Social Value of Medical Interventions for Ultra-Rare Disorders (URDS). 61
27200532 2014
49
Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. 61
25109802 2014
50
T-cell-replete haploidentical HSCT with low-dose anti-T-lymphocyte globulin compared with matched sibling HSCT and unrelated HSCT. 61
25214441 2014

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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