ARCL1C
MCID: CTS033
MIFTS: 52

Cutis Laxa, Autosomal Recessive, Type Ic (ARCL1C)

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
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Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Ic

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Ic:

Name: Cutis Laxa, Autosomal Recessive, Type Ic 57 38
Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities 57 12 43 71
Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies 58 28 5
Urban-Rifkin-Davis Syndrome 57 58 73
Arcl1c 57 11 58
Autosomal Recessive Cutis Laxa Type Ic 11 14
Autosomal Recessive Cutis Laxa Type 1c 11 58
Urds 57 73
Cutis Laxa with Severe Pulmonary Gastrointestinal and Urinary Abnormalities 73

Characteristics:


Inheritance:

Cutis Laxa, Autosomal Recessive, Type Ic: Autosomal recessive 57
Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies: Autosomal recessive 58

Prevelance:

Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies: <1/1000000 (Worldwide) 58

Age Of Onset:

Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies: Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cutis Laxa, Autosomal Recessive, Type Ic

OMIM®: 57 Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002). Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013). For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (613177) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Ic, also known as cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, is related to diaphragmatic hernia, congenital and pneumothorax, and has symptoms including periorbital swelling An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ic is LTBP4 (Latent Transforming Growth Factor Beta Binding Protein 4), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include skin, lung and trachea, and related phenotypes are inguinal hernia and hypertelorism

UniProtKB/Swiss-Prot: 73 A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles.

Orphanet: 58 A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).

Disease Ontology: 11 A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Ic

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
Cutis Laxa, Autosomal Recessive, Type Iie Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa Eln-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

Diseases related to Cutis Laxa, Autosomal Recessive, Type Ic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.3 LTBP4 FBN1 EFEMP2
2 pneumothorax 30.2 FBN1 FBLN5
3 cutis laxa, autosomal recessive, type ia 29.5 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
4 cutis laxa 27.8 RIN2 LTBP4 LTBP3 LTBP1 GORAB FBN1
5 autosomal recessive cutis laxa type i 27.5 RIN2 LTBP4 LTBP3 LTBP2 LTBP1 GORAB
6 ltbp4-related cutis laxa 11.0
7 connective tissue disease 10.4
8 pneumothorax, primary spontaneous 10.3
9 bronchiolitis 10.3
10 pulmonary emphysema 10.3
11 diaphragmatic eventration 10.3
12 hydronephrosis 10.3
13 pyloric stenosis 10.3
14 heart septal defect 10.3
15 atrial heart septal defect 10.3
16 interatrial communication 10.3
17 cutis laxa, autosomal dominant 2 10.2 FBLN5 EFEMP2
18 retinal drusen 10.1 FBLN5 EFEMP2
19 doyne honeycomb retinal dystrophy 10.1 FBLN5 EFEMP2
20 macs syndrome 10.1 RIN2 FBLN5
21 tricuspid valve prolapse 10.1 FBN1 EFEMP2
22 bladder diverticulum 10.1 LTBP4 FBLN5 EFEMP2
23 loeys-dietz syndrome 3 10.1 FBN1 EFEMP2
24 hydrophthalmos 10.0 LTBP3 LTBP2
25 spastic paraplegia 76, autosomal recessive 10.0 LTBP3 LTBP2
26 aortic valve insufficiency 10.0 FBN1 EFEMP2
27 brachyolmia 10.0 LTBP3 LTBP2
28 weill-marchesani syndrome 1 10.0 LTBP2 FBN1
29 tracheal stenosis 10.0 LTBP3 FBN1
30 primary congenital glaucoma 10.0 LTBP3 LTBP2
31 juvenile glaucoma 10.0 LTBP3 LTBP2
32 ureteric orifice cancer 9.9 FBN1 FBLN5 EFEMP2
33 ehlers-danlos syndrome, vascular type 9.9 FBN1 FBLN5 EFEMP2
34 glaucoma 3, primary congenital, a 9.9 LTBP3 LTBP2
35 ehlers-danlos syndrome 9.9 FBN1 FBLN5 EFEMP2
36 aortic dissection 9.9 FBN1 FBLN5 EFEMP2
37 axenfeld-rieger syndrome 9.9 LTBP3 LTBP2
38 geleophysic dysplasia 3 9.8 LTBP3 LTBP2 FBN1
39 geleophysic dysplasia 2 9.8 LTBP3 LTBP2 FBN1
40 geleophysic dysplasia 1 9.8 LTBP3 LTBP2 FBN1
41 aortic aneurysm 9.8 LTBP4 FBN1 FBLN5 EFEMP2
42 arterial tortuosity syndrome 9.8 LTBP4 FBN1 FBLN5 EFEMP2
43 lens subluxation 9.8 LTBP3 LTBP2 FBN1
44 supravalvular aortic stenosis 9.8 LTBP4 FBN1 FBLN5 EFEMP2
45 megalocornea 9.8 LTBP3 LTBP2 FBN1
46 iris disease 9.8 LTBP3 LTBP2 FBN1
47 glaucoma, primary open angle 9.8 LTBP3 LTBP2 FBN1
48 williams-beuren syndrome 9.8 FBN1 FBLN5 EFEMP2
49 scoliosis 9.7 RIN2 LTBP4 FBN1 FBLN5
50 dental anomalies and short stature 9.7 LTBP4 LTBP3 LTBP2 FBN1

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Recessive, Type Ic:



Diseases related to Cutis Laxa, Autosomal Recessive, Type Ic

Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Ic

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Ic:

30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 30 HP:0000023
2 hypertelorism 30 HP:0000316
3 wide nasal bridge 30 HP:0000431
4 umbilical hernia 30 HP:0001537
5 gastroesophageal reflux 30 HP:0002020
6 growth delay 30 HP:0001510
7 retrognathia 30 HP:0000278
8 micrognathia 30 HP:0000347
9 rectal prolapse 30 HP:0002035
10 joint laxity 30 HP:0001388
11 emphysema 30 HP:0002097
12 sandal gap 30 HP:0001852
13 hydronephrosis 30 HP:0000126
14 laryngomalacia 30 HP:0001601
15 long philtrum 30 HP:0000343
16 malar flattening 30 HP:0000272
17 bladder diverticulum 30 HP:0000015
18 periorbital edema 30 HP:0100539
19 pyloric stenosis 30 HP:0002021
20 midface retrusion 30 HP:0011800
21 pulmonary artery stenosis 30 HP:0004415
22 tracheomalacia 30 HP:0002779
23 sloping forehead 30 HP:0000340
24 pulmonary hypoplasia 30 HP:0002089
25 cutis laxa 30 HP:0000973
26 generalized hypotonia 30 HP:0001290
27 bronchomalacia 30 HP:0002780
28 patent foramen ovale 30 HP:0001655
29 vascular dilatation 30 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Nose:
wide nasal bridge

Abdomen Gastrointestinal:
gastroesophageal reflux
rectal prolapse
pyloric stenosis
diverticula
intestinal dilatation, tortuosity

Skeletal:
joint laxity

Genitourinary Kidneys:
hydronephrosis

Head And Neck Mouth:
long philtrum

Skin Nails Hair Skin:
cutis laxa

Growth Other:
postnatal growth delay

Head And Neck Head:
wide fontanels

Skeletal Feet:
widely spaced first and second toes
plantar crease

Head And Neck Eyes:
hypertelorism
periorbital swelling

Abdomen External Features:
umbilical hernia

Head And Neck Face:
retrognathia
micrognathia
flat midface
receding forehead

Respiratory Lung:
emphysema
hypoplastic lung

Respiratory Larynx:
laryngomalacia
tracheomalacia
bronchomalacia

Cardiovascular Heart:
pulmonary artery stenosis
patent foramen ovale

Genitourinary Bladder:
bladder diverticula

Skeletal Skull:
wide sutures

Chest Diaphragm:
diaphragm hernia or eventration

Muscle Soft Tissue:
low muscle tone

Clinical features from OMIM®:

613177 (Updated 08-Dec-2022)

UMLS symptoms related to Cutis Laxa, Autosomal Recessive, Type Ic:


periorbital swelling

MGI Mouse Phenotypes related to Cutis Laxa, Autosomal Recessive, Type Ic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 FBLN5 FBN1 GORAB LTBP1 LTBP3
2 respiratory system MP:0005388 9.5 EFEMP2 FBLN5 FBN1 GORAB LTBP2 LTBP3
3 integument MP:0010771 9.23 ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 FBN1 GORAB

Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Ic

Search Clinical Trials, NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Ic

Cochrane evidence based reviews: cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Ic

Genetic tests related to Cutis Laxa, Autosomal Recessive, Type Ic:

# Genetic test Affiliating Genes
1 Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies 28 LTBP4

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Ic

Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Ic:

MalaCards : Skin, Lung, Trachea, Kidney, Bone Marrow, Myeloid, Bone
ODiseA: Respiratory System-Trachea, Respiratory System-Lung, Respiratory System, Kidney

Publications for Cutis Laxa, Autosomal Recessive, Type Ic

Articles related to Cutis Laxa, Autosomal Recessive, Type Ic:

(show top 50) (show all 90)
# Title Authors PMID Year
1
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 57 5
22829427 2013
2
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 57 5
19836010 2009
3
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C. 62 5
35972031 2022
4
Analysis of Disparities in Time to Allogeneic Transplantation in Adults with Acute Myelogenous Leukemia. 62
36240477 2022
5
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. 62
35924793 2022
6
Is Developmental Regression in Down Syndrome Linked to Life Stressors? 62
35943343 2022
7
The Impact of Pre-Apheresis Health Related Quality of Life on Peripheral Blood Progenitor Cell Yield and Donor's Health and Outcome: Secondary Analysis of Patient-Reported Outcome Data from the RDSafe and BMT CTN 0201 Clinical Trials. 62
35688325 2022
8
Very high-resolution remote sensing-based mapping of urban residential districts to help combat COVID-19. 62
35431391 2022
9
Basic characteristics and safety of donation in related and unrelated haematopoietic progenitor cell donors - first 10 years of prospective donor follow-up of Swiss donors. 62
35379914 2022
10
Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature. 62
35445908 2022
11
Dohsa-hou for unexplained regression in Down syndrome in a 19-year-old man: A case report. 62
35600012 2022
12
Unrelated donor α/β T cell- and B cell-depleted HSCT for the treatment of pediatric acute leukemia. 62
34872106 2022
13
Impact of cryopreservation and transit times of allogeneic grafts on hematopoietic and immune reconstitution. 62
34581754 2021
14
Improved survival for young acute leukemia patients following a new donor hierarchy for allogeneic hematopoietic stem cell transplantation: A phase III randomized controlled study. 62
34370319 2021
15
Novel genetic variants associated with mortality after unrelated donor allogeneic hematopoietic cell transplantation. 62
34746714 2021
16
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. 62
33420392 2021
17
Comparable Outcomes Between Unrelated and Haploidentical Stem Cell Transplantation in Adult Patients With Severe Aplastic Anemia. 62
32639401 2021
18
LTBP4 in Health and Disease. 62
34071145 2021
19
Prospective KIR genotype evaluation of hematopoietic cell donors is feasible with potential to benefit patients with AML. 62
33843984 2021
20
ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants. 62
33708521 2021
21
Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4. 62
34539739 2021
22
Emergency Department Visits for allergy related-disorders among children: experience of a single Italian hospital during the first wave of the COVID-19 pandemic. 62
34745607 2021
23
Health-Related Quality-of-Life Comparison of Adult Related and Unrelated HSC Donors: An RDSafe Study. 62
32829080 2020
24
Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC. 62
35921570 2020
25
Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature. 62
33302946 2020
26
Frequencies and haplotype associations of non-expressed HLA alleles in ethnically diverse populations on the National Marrow Donor Program's Be The Match Registry. 62
32684409 2020
27
Unrelated Donor Transplant Recipients Given Thymoglobuline Have Superior GRFS When Compared to Matched Related Donor Recipients Undergoing Transplantation without ATG. 62
32640314 2020
28
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network. 62
32928283 2020
29
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. 62
32464284 2020
30
Catalytic RNA nano-objects formed by self-assembly of group I ribozyme dimers serving as unit structures. 62
32451246 2020
31
Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C. 62
32341818 2020
32
The Undiagnosed Diseases Network International: Five years and more! 62
32033911 2020
33
Investigation of donor KIR content and matching in children undergoing hematopoietic cell transplantation for acute leukemia. 62
32267930 2020
34
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. 62
31870931 2020
35
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review. 62
31115174 2019
36
Comparable Outcomes after Hematopoietic Stem Cell Transplantation from Mother Donors and Matched Unrelated Donors in Patients with Hematopoietic Malignancies. 62
30708190 2019
37
Racial disparities in access to HLA-matched unrelated donor transplants: a prospective 1312-patient analysis. 62
30917950 2019
38
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? 62
30665446 2019
39
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. 62
30153492 2019
40
KIR Donor Selection: Feasibility in Identifying better Donors. 62
30149149 2019
41
Allogeneic stem cell transplantation from unrelated donors in acute leukaemia. 62
30222641 2018
42
Development of an Unrelated Donor Selection Score Predictive of Survival after HCT: Donor Age Matters Most. 62
29454040 2018
43
Validation of an Algorithm to Predict the Likelihood of an 8/8 HLA-Matched Unrelated Donor at Search Initiation. 62
29287807 2018
44
Graft-versus-host disease in recipients of male unrelated donor compared with parous female sibling donor transplants. 62
29739773 2018
45
Comparing outcomes of matched related donor and matched unrelated donor hematopoietic cell transplants in adults with B-Cell acute lymphoblastic leukemia. 62
28452054 2017
46
Physicochemical and biological characterization of sustained isopropyl unoprostone-release device made of poly(ethyleneglycol) dimethacrylates. 62
28534288 2017
47
Prospective Evaluation of Unrelated Donor Cord Blood and Haploidentical Donor Access Reveals Graft Availability Varies by Patient Ancestry: Practical Implications for Donor Selection. 62
28263918 2017
48
Identification of a 10/10 matched donor for patients with an uncommon haplotype is unlikely. 62
28102042 2017
49
Sensitivity of self-reported opioid use in case-control studies: Healthy individuals versus hospitalized patients. 62
28854228 2017
50
Long-Term Protection of Genetically Ablated Rabbit Retinal Degeneration by Sustained Transscleral Unoprostone Delivery. 62
27918826 2016

Variations for Cutis Laxa, Autosomal Recessive, Type Ic

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Ic:

5 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LTBP4 NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs) DEL Pathogenic
5395 rs606231159 GRCh37: 19:41128552-41128552
GRCh38: 19:40622647-40622647
2 LTBP4 NM_001042545.2(LTBP4):c.701del (p.Pro234fs) DEL Pathogenic
5396 rs606231160 GRCh37: 19:41111642-41111642
GRCh38: 19:40605736-40605736
3 LTBP4 NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter) SNV Pathogenic
5397 rs267607228 GRCh37: 19:41119359-41119359
GRCh38: 19:40613453-40613453
4 LTBP4 NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly) SNV Pathogenic
5398 rs267607229 GRCh37: 19:41111674-41111674
GRCh38: 19:40605768-40605768
5 LTBP4 NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs) DUP Pathogenic
5399 rs606231161 GRCh37: 19:41132925-41132926
GRCh38: 19:40627020-40627021
6 LTBP4 NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter) SNV Pathogenic
40002 rs397515430 GRCh37: 19:41114221-41114221
GRCh38: 19:40608315-40608315
7 LTBP4 NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs) DUP Pathogenic
40003 rs797044471 GRCh37: 19:41132918-41132919
GRCh38: 19:40627013-40627014
8 LTBP4 NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter) SNV Pathogenic
40004 rs1382026467 GRCh37: 19:41132933-41132933
GRCh38: 19:40627028-40627028
9 LTBP4 NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) SNV Pathogenic
632581 rs1568406407 GRCh37: 19:41117075-41117075
GRCh38: 19:40611169-40611169
10 LTBP4 NM_001042545.2(LTBP4):c.1360del (p.Arg454fs) DEL Pathogenic
978461 rs1307726290 GRCh37: 19:41114440-41114440
GRCh38: 19:40608534-40608534
11 LTBP4 NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) SNV Pathogenic
1333666 GRCh37: 19:41117276-41117276
GRCh38: 19:40611370-40611370
12 LTBP4 NM_003573.2(LTBP4):c.254del (p.Leu85fs) DEL Pathogenic
189236 rs747013505 GRCh37: 19:41105997-41105997
GRCh38: 19:40600091-40600091
13 LTBP4 NM_003573.2(LTBP4):c.76-1G>A SNV Pathogenic
1323255 GRCh37: 19:41105307-41105307
GRCh38: 19:40599401-40599401
14 LTBP4 NM_003573.2(LTBP4):c.118C>T (p.Gln40Ter) SNV Likely Pathogenic
1324688 GRCh37: 19:41105350-41105350
GRCh38: 19:40599444-40599444
15 LTBP4 NM_001042544.1:c.3885_3893del DEL Likely Pathogenic
1343390 GRCh37:
GRCh38:
16 LTBP4 NM_001042545.2(LTBP4):c.565del (p.Glu189fs) DEL Likely Pathogenic
1324689 GRCh37: 19:41111432-41111432
GRCh38: 19:40605526-40605526
17 LTBP4 NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) DUP Likely Pathogenic
800936 rs1599879104 GRCh37: 19:41131778-41131779
GRCh38: 19:40625873-40625874
18 LTBP4 NM_001042545.2(LTBP4):c.2681-10C>G SNV Conflicting Interpretations Of Pathogenicity
329319 rs200914063 GRCh37: 19:41120211-41120211
GRCh38: 19:40614305-40614305
19 LTBP4 NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) SNV Conflicting Interpretations Of Pathogenicity
329322 rs200667255 GRCh37: 19:41122891-41122891
GRCh38: 19:40616985-40616985
20 LTBP4 NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys) SNV Uncertain Significance
329306 rs199875504 GRCh37: 19:41114407-41114407
GRCh38: 19:40608501-40608501
21 LTBP4 NM_001042545.2(LTBP4):c.1307-2A>G SNV Uncertain Significance
1031008 rs970983655 GRCh37: 19:41114388-41114388
GRCh38: 19:40608482-40608482
22 LTBP4 NM_001042545.2(LTBP4):c.770G>A (p.Cys257Tyr) SNV Uncertain Significance
1333362 GRCh37: 19:41111714-41111714
GRCh38: 19:40605808-40605808
23 LTBP4 NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr) SNV Uncertain Significance
1028629 rs375879929 GRCh37: 19:41128534-41128534
GRCh38: 19:40622629-40622629
24 LTBP4 NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys) SNV Uncertain Significance
451742 rs778595954 GRCh37: 19:41128566-41128566
GRCh38: 19:40622661-40622661
25 LTBP4 NM_001042545.2(LTBP4):c.*185_*187del DEL Uncertain Significance
329334 rs558641472 GRCh37: 19:41135638-41135640
GRCh38: 19:40629733-40629735
26 LTBP4 NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=) SNV Uncertain Significance
329320 rs2303726 GRCh37: 19:41120279-41120279
GRCh38: 19:40614373-40614373
27 LTBP4 NM_001042545.2(LTBP4):c.443-14C>T SNV Uncertain Significance
329302 rs375934176 GRCh37: 19:41111297-41111297
GRCh38: 19:40605391-40605391
28 LTBP4 NM_001042545.2(LTBP4):c.1835C>T (p.Pro612Leu) SNV Uncertain Significance
329313 rs886054447 GRCh37: 19:41117082-41117082
GRCh38: 19:40611176-40611176
29 LTBP4 NM_001042545.2(LTBP4):c.2157C>G (p.Asn719Lys) SNV Uncertain Significance
329315 rs770079010 GRCh37: 19:41117868-41117868
GRCh38: 19:40611962-40611962
30 LTBP4 NM_001042545.2(LTBP4):c.698C>T (p.Ser233Phe) SNV Uncertain Significance
329304 rs886054445 GRCh37: 19:41111642-41111642
GRCh38: 19:40605736-40605736
31 LTBP4 NM_001042545.2(LTBP4):c.2419G>C (p.Gly807Arg) SNV Uncertain Significance
329317 rs559350666 GRCh37: 19:41119090-41119090
GRCh38: 19:40613184-40613184
32 LTBP4 NM_001042545.2(LTBP4):c.*126G>T SNV Uncertain Significance
329333 rs567854760 GRCh37: 19:41135581-41135581
GRCh38: 19:40629676-40629676
33 LTBP4 NM_001042545.2(LTBP4):c.3329G>A (p.Gly1110Glu) SNV Uncertain Significance
329325 rs886054448 GRCh37: 19:41128417-41128417
GRCh38: 19:40622512-40622512
34 LTBP4 NM_001042545.2(LTBP4):c.4033C>G (p.Pro1345Ala) SNV Uncertain Significance
329328 rs886054450 GRCh37: 19:41132927-41132927
GRCh38: 19:40627022-40627022
35 LTBP4 NM_001042545.2(LTBP4):c.1217G>A (p.Arg406His) SNV Uncertain Significance
892793 rs574587568 GRCh37: 19:41114186-41114186
GRCh38: 19:40608280-40608280
36 LTBP4 NM_001042545.2(LTBP4):c.1452C>G (p.Arg484=) SNV Uncertain Significance
892794 rs745624027 GRCh37: 19:41115461-41115461
GRCh38: 19:40609555-40609555
37 LTBP4 NM_001042545.2(LTBP4):c.289G>C (p.Val97Leu) SNV Uncertain Significance
893562 rs544671195 GRCh37: 19:41110979-41110979
GRCh38: 19:40605073-40605073
38 LTBP4 NM_001042545.2(LTBP4):c.1549C>A (p.Arg517=) SNV Uncertain Significance
893600 rs770158909 GRCh37: 19:41115558-41115558
GRCh38: 19:40609652-40609652
39 LTBP4 NM_001042545.2(LTBP4):c.302G>A (p.Arg101His) SNV Uncertain Significance
893851 rs762286016 GRCh37: 19:41110992-41110992
GRCh38: 19:40605086-40605086
40 LTBP4 NM_001042545.2(LTBP4):c.371C>G (p.Ala124Gly) SNV Uncertain Significance
893852 rs562892147 GRCh37: 19:41111061-41111061
GRCh38: 19:40605155-40605155
41 LTBP4 NM_001042545.2(LTBP4):c.534G>A (p.Glu178=) SNV Uncertain Significance
893853 rs2081452931 GRCh37: 19:41111402-41111402
GRCh38: 19:40605496-40605496
42 LTBP4 NM_001042545.2(LTBP4):c.564G>A (p.Ala188=) SNV Uncertain Significance
893854 rs759941927 GRCh37: 19:41111432-41111432
GRCh38: 19:40605526-40605526
43 LTBP4 NM_001042545.2(LTBP4):c.634G>A (p.Gly212Ser) SNV Uncertain Significance
893855 rs771378692 GRCh37: 19:41111502-41111502
GRCh38: 19:40605596-40605596
44 LTBP4 NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=) SNV Uncertain Significance
893883 rs578204135 GRCh37: 19:41117871-41117871
GRCh38: 19:40611965-40611965
45 LTBP4 NM_001042545.2(LTBP4):c.*25C>T SNV Uncertain Significance
893944 rs1284761820 GRCh37: 19:41135480-41135480
GRCh38: 19:40629575-40629575
46 LTBP4 NM_001042545.2(LTBP4):c.*42G>A SNV Uncertain Significance
893945 rs2081663869 GRCh37: 19:41135497-41135497
GRCh38: 19:40629592-40629592
47 LTBP4 NM_001042545.2(LTBP4):c.2180-3C>A SNV Uncertain Significance
894277 rs560687578 GRCh37: 19:41117976-41117976
GRCh38: 19:40612070-40612070
48 LTBP4 NM_001042545.2(LTBP4):c.2431+11T>C SNV Uncertain Significance
894278 rs370485510 GRCh37: 19:41119113-41119113
GRCh38: 19:40613207-40613207
49 LTBP4 NM_001042545.2(LTBP4):c.*59C>T SNV Uncertain Significance
894336 rs1362204630 GRCh37: 19:41135514-41135514
GRCh38: 19:40629609-40629609
50 LTBP4 NM_001042545.2(LTBP4):c.*97G>T SNV Uncertain Significance
894337 rs1242020458 GRCh37: 19:41135552-41135552
GRCh38: 19:40629647-40629647

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Ic:

73
# Symbol AA change Variation ID SNP ID
1 LTBP4 p.Cys311Gly VAR_064153 rs267607229

Expression for Cutis Laxa, Autosomal Recessive, Type Ic

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Ic.

Pathways for Cutis Laxa, Autosomal Recessive, Type Ic

Pathways related to Cutis Laxa, Autosomal Recessive, Type Ic according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 EFEMP2
2 13.44 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 ATP6V0A2
3
Show member pathways
12.78 EFEMP2 FBN1 LTBP1 LTBP2 LTBP3 LTBP4
4
Show member pathways
12.72 LTBP4 LTBP3 LTBP2 LTBP1
5
Show member pathways
12.4 LTBP4 LTBP3 LTBP2 LTBP1
6
Show member pathways
12.32 LTBP4 LTBP3 LTBP2 LTBP1
7
Show member pathways
12.14 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 FBLN5
8
Show member pathways
12.08 LTBP4 LTBP3 LTBP2 LTBP1
9
Show member pathways
12.05 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
10
Show member pathways
11.69 LTBP3 LTBP1 FBN1
11
Show member pathways
11.55 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
12 11.42 LTBP4 LTBP3 LTBP2 LTBP1
13
Show member pathways
11.08 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 FBLN5
14 10.94 LTBP2 LTBP1 FBN1
15 10.7 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 EFEMP2

GO Terms for Cutis Laxa, Autosomal Recessive, Type Ic

Cellular components related to Cutis Laxa, Autosomal Recessive, Type Ic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 10 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 FBLN5
2 extracellular matrix GO:0031012 9.77 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 FBLN5
3 elastic fiber GO:0071953 9.56 FBLN5 EFEMP2
4 microfibril GO:0001527 9.23 LTBP4 LTBP1 FBN1 EFEMP2

Biological processes related to Cutis Laxa, Autosomal Recessive, Type Ic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.63 LTBP4 LTBP3 LTBP2
2 sequestering of TGFbeta in extracellular matrix GO:0035583 9.26 LTBP1 FBN1
3 elastic fiber assembly GO:0048251 9.17 LTBP4 LTBP3 FBLN5 EFEMP2

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Ic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 10 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 FBLN5
2 heparin binding GO:0008201 9.93 LTBP2 FBN1 EFEMP2
3 integrin binding GO:0005178 9.91 LTBP4 FBN1 FBLN5
4 transforming growth factor beta binding GO:0050431 9.73 LTBP1 LTBP3 LTBP4
5 extracellular matrix constituent conferring elasticity GO:0030023 9.71 FBN1 FBLN5
6 transforming growth factor beta receptor activity GO:0005024 9.67 LTBP4 LTBP1
7 extracellular matrix structural constituent GO:0005201 9.65 LTBP4 LTBP2 LTBP1 FBN1 EFEMP2
8 microfibril binding GO:0050436 9.62 LTBP2 LTBP1
9 growth factor binding GO:0019838 9.02 LTBP4 LTBP3 LTBP2 LTBP1

Sources for Cutis Laxa, Autosomal Recessive, Type Ic

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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