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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
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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal 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 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 Tacrolimus and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow.

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 gastroesophageal reflux 10.4
2 diaphragmatic hernia, congenital 10.4
3 cutis laxa, autosomal recessive, type ic 10.4
4 inguinal hernia 10.4
5 hydronephrosis 10.4
6 cutis laxa 10.4
7 pulmonary emphysema 10.4
8 diaphragmatic eventration 10.3
9 graft-versus-host disease 10.2
10 chronic graft versus host disease 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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
2
Adenosine Approved, Investigational Phase 2 58-61-7 60961
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
5
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
6
Erythromycin Approved, Investigational, Vet_approved Phase 2 114-07-8 12560 441411
7 Antilymphocyte Serum Phase 2
8 Antitubercular Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Anti-Bacterial Agents Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Calcineurin Inhibitors Phase 2
13 Erythromycin Ethylsuccinate Phase 2
14 Erythromycin Estolate Phase 2
15 Erythromycin stearate Phase 2
16 Dermatologic Agents Phase 2
17 Antifungal Agents Phase 2
18
Mycophenolic acid Approved 24280-93-1 446541
19
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
20
Fludarabine Approved 21679-14-1, 75607-67-9 30751
21
Busulfan Approved, Investigational 55-98-1 2478
22
Thiotepa Approved, Investigational 52-24-4 5453
23 Immunosuppressive Agents
24 Immunologic Factors
25 Cyclosporins
26 Antirheumatic Agents
27 Alkylating Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Recruiting NCT03734601 Phase 2 Anti-thymocyte globulin (ATG);Tacrolimus;Mycophenolate mofetil (MMF)
2 Pentostatin and Donor Lymphocyte Infusion for Low Donor T-cell Chimerism After Hematopoietic Cell Transplantation - A Multi-center Trial Active, not recruiting NCT00096161 Phase 2 Cyclosporine;Mycophenolate Mofetil;Pentostatin
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 Not yet 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, Myeloid, Bone Marrow, T Cells, Lung, Testes, B Cells
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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 77)
# 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 Undiagnosed Diseases Network International: Five years and more! 61
32033911 2020
24
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 2019
25
Comparable Outcomes after Hematopoietic Stem Cell Transplantation from Mother Donors and Matched Unrelated Donors in Patients with Hematopoietic Malignancies. 61
30708190 2019
26
Racial disparities in access to HLA-matched unrelated donor transplants: a prospective 1312-patient analysis. 61
30917950 2019
27
KIR Donor Selection: Feasibility in Identifying better Donors. 61
30149149 2019
28
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? 61
30665446 2019
29
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
30
Allogeneic stem cell transplantation from unrelated donors in acute leukaemia. 61
30222641 2018
31
Validation of an Algorithm to Predict the Likelihood of an 8/8 HLA-Matched Unrelated Donor at Search Initiation. 61
29287807 2018
32
Development of an Unrelated Donor Selection Score Predictive of Survival after HCT: Donor Age Matters Most. 61
29454040 2018
33
Graft-versus-host disease in recipients of male unrelated donor compared with parous female sibling donor transplants. 61
29739773 2018
34
Comparing outcomes of matched related donor and matched unrelated donor hematopoietic cell transplants in adults with B-Cell acute lymphoblastic leukemia. 61
28452054 2017
35
Physicochemical and biological characterization of sustained isopropyl unoprostone-release device made of poly(ethyleneglycol) dimethacrylates. 61
28534288 2017
36
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
37
Identification of a 10/10 matched donor for patients with an uncommon haplotype is unlikely. 61
28102042 2017
38
Sensitivity of self-reported opioid use in case-control studies: Healthy individuals versus hospitalized patients. 61
28854228 2017
39
Long-Term Protection of Genetically Ablated Rabbit Retinal Degeneration by Sustained Transscleral Unoprostone Delivery. 61
27918826 2016
40
High-Resolution Match Rate of 7/8 and 9/10 or Better for the Be The Match Unrelated Donor Registry. 61
26724431 2016
41
LTBP4-Related Cutis Laxa 61
26866239 2016
42
Determining the value of medical technologies to treat ultra-rare disorders: a consensus statement. 61
27857828 2016
43
Characterization of toxicants in urban road dust by Toxicity Identification Evaluation using ostracod Heterocypris incongruens direct contact test. 61
26026413 2015
44
Haploidentical hematopoietic stem cell transplantation in children and adolescents with acquired severe aplastic anemia. 61
26213547 2015
45
The Evaluation of Economic Methods to Assess the Social Value of Medical Interventions for Ultra-Rare Disorders (URDS). 61
27200532 2014
46
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
47
T-cell-replete haploidentical HSCT with low-dose anti-T-lymphocyte globulin compared with matched sibling HSCT and unrelated HSCT. 61
25214441 2014
48
Incremental cost per quality-adjusted life year gained? The need for alternative methods to evaluate medical interventions for ultra-rare disorders. 61
25275236 2014
49
Toxicity assessment of size-fractionated urban road dust using ostracod Heterocypris incongruens direct contact test. 61
24275471 2014
50
Unrelated donor allogeneic hematopoietic cell transplantation is underused as a curative therapy in eligible patients from the United States. 61
23811537 2013
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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
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
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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