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ARCL1C
MCID: CTS033
MIFTS: 50

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, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Ic

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

Name: Cutis Laxa, Autosomal Recessive, Type Ic 58 13 41
Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities 58 38 30 6 45 74
Urban-Rifkin-Davis Syndrome 58 60 76
Arcl1c 58 12 60
Autosomal Recessive Cutis Laxa Type Ic 12 15
Autosomal Recessive Cutis Laxa Type 1c 12 60
Urds 58 76
Cutis Laxa with Severe Pulmonary Gastrointestinal and Urinary Abnormalities 76
Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies 60
Urban-Rifkin-Davis Syndrome; Urds 58

Characteristics:

Orphanet epidemiological data:

60
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cutis laxa, autosomal recessive, type ic:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Eye diseases Neuronal diseases Bone diseases Cardiovascular diseases Gastrointestinal diseases Mental diseases Blood diseases Muscle diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare skin diseases
Developmental anomalies during embryogenesis


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Summaries for Cutis Laxa, Autosomal Recessive, Type Ic

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OMIM : 58 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)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Ic, also known as cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, is related to cutis laxa and ltbp4-related cutis laxa, 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 Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include skin, lung and bone, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 76 Urban-Rifkin-Davis syndrome: 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.

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Related Diseases for Cutis Laxa, Autosomal Recessive, Type Ic

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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

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 30.7 EFEMP2 LTBP4
2 ltbp4-related cutis laxa 11.1
3 hematopoietic stem cell transplantation 10.3
4 graft-versus-host disease 10.1
5 chronic graft versus host disease 10.1
6 familial thoracic aortic aneurysm and dissection 9.9 TGFBR1 TGFBR2
7 transient hypogammaglobulinemia 9.9 TGFBR1 TGFBR2
8 loeys-dietz syndrome 4 9.9 TGFBR1 TGFBR2
9 loeys-dietz syndrome 9.9 TGFBR1 TGFBR2
10 multiple self-healing squamous epithelioma 9.9 TGFBR1 TGFBR2
11 eisenmenger syndrome 9.9 TGFBR1 TGFBR2
12 loeys-dietz syndrome 3 9.8 TGFBR1 TGFBR2
13 arterial tortuosity syndrome 9.8 EFEMP2 LTBP4 TGFBR1
14 transient hypogammaglobulinemia of infancy 9.8 TGFBR1 TGFBR2
15 loeys-dietz syndrome 1 9.7 TGFBR1 TGFBR2
16 aortic aneurysm, familial thoracic 1 9.7 EFEMP2 TGFBR1 TGFBR2
17 aortic aneurysm 9.7 EFEMP2 TGFBR1 TGFBR2
18 aortic disease 9.7 EFEMP2 TGFBR1 TGFBR2
19 marfan syndrome 9.6 TGFBR1 TGFBR2
20 large intestine cancer 9.4 EIF2AK3 SMAD2 TGFBR2
21 autosomal recessive cutis laxa type i 8.7 EFEMP2 EIF2AK3 LTBP4 SMAD2 TGFBR1 TGFBR2

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



Diseases related to Cutis Laxa, Autosomal Recessive, Type Ic
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Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Ic

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

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 hypertelorism 33 HP:0000316
3 inguinal hernia 33 HP:0000023
4 wide nasal bridge 33 HP:0000431
5 umbilical hernia 33 HP:0001537
6 gastroesophageal reflux 33 HP:0002020
7 laryngomalacia 33 HP:0001601
8 emphysema 33 HP:0002097
9 long philtrum 33 HP:0000343
10 micrognathia 33 HP:0000347
11 retrognathia 33 HP:0000278
12 joint laxity 33 HP:0001388
13 sandal gap 33 HP:0001852
14 bladder diverticulum 33 HP:0000015
15 rectal prolapse 33 HP:0002035
16 periorbital edema 33 HP:0100539
17 midface retrusion 33 HP:0011800
18 pyloric stenosis 33 HP:0002021
19 pulmonary artery stenosis 33 HP:0004415
20 tracheomalacia 33 HP:0002779
21 hydronephrosis 33 HP:0000126
22 sloping forehead 33 HP:0000340
23 pulmonary hypoplasia 33 HP:0002089
24 generalized hypotonia 33 HP:0001290
25 patent foramen ovale 33 HP:0001655
26 cutis laxa 33 HP:0000973
27 bronchomalacia 33 HP:0002780
28 dilatation 33 HP:0002617

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
periorbital swelling

Head And Neck Nose:
wide nasal bridge

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

Respiratory Lung:
emphysema
hypoplastic lung

Head And Neck Face:
micrognathia
flat midface
receding forehead

Cardiovascular Heart:
pulmonary artery stenosis
patent foramen ovale

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

Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
umbilical hernia

Respiratory Larynx:
laryngomalacia
tracheomalacia
bronchomalacia

Head And Neck Mouth:
long philtrum
retrognathia

Skeletal:
joint laxity

Genitourinary Kidneys:
hydronephrosis

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

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


periorbital swelling

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

27 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.39 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.39 TGFBR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.39 TGFBR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.39 TGFBR1 TGFBR2 LTBP4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.39 TGFBR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.39 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.39 TGFBR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.39 LTBP4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.39 TGFBR1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.39 EIF2AK3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.39 TGFBR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.39 EIF2AK3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.39 EIF2AK3 TGFBR1 TGFBR2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.39 LTBP4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.39 TGFBR1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.39 TGFBR2
17 Decreased viability GR00107-A-1 10.03 TGFBR2
18 Decreased viability GR00221-A-1 10.03 EIF2AK3 TGFBR1 TGFBR2
19 Decreased viability GR00221-A-2 10.03 EIF2AK3
20 Decreased viability GR00221-A-3 10.03 TGFBR2
21 Decreased viability GR00221-A-4 10.03 EIF2AK3 TGFBR1 TGFBR2
22 Decreased viability GR00402-S-2 10.03 EIF2AK3 TGFBR1 TGFBR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.99 SMAD2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.99 SMAD2 TGFBR1 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.99 TGFBR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.99 TGFBR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.99 TGFBR2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.99 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.99 TGFBR1 TGFBR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.99 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.99 EIF2AK3
32 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.99 TGFBR2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.99 TGFBR2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.99 TGFBR1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.99 SMAD2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.99 SMAD2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.99 TGFBR2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.99 TGFBR2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.99 EIF2AK3
40 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.99 EIF2AK3
41 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.99 SMAD2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.99 SMAD2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.99 EIF2AK3 SMAD2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.99 EIF2AK3 TGFBR2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.99 SMAD2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.99 TGFBR1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.99 TGFBR1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.99 TGFBR2
49 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.99 TGFBR2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.99 TGFBR2

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 EFEMP2 EIF2AK3 LTBP4 SMAD2 TGFBR1 TGFBR2
2 cardiovascular system MP:0005385 9.85 EFEMP2 LTBP4 SMAD2 TGFBR1 TGFBR2
3 digestive/alimentary MP:0005381 9.8 EIF2AK3 LTBP4 SMAD2 TGFBR1 TGFBR2
4 mortality/aging MP:0010768 9.8 EFEMP2 EIF2AK3 LTBP4 SMAD2 TGFBR1 TGFBR2
5 endocrine/exocrine gland MP:0005379 9.77 EIF2AK3 LTBP4 SMAD2 TGFBR1 TGFBR2
6 muscle MP:0005369 9.56 EFEMP2 LTBP4 TGFBR1 TGFBR2
7 neoplasm MP:0002006 9.55 EIF2AK3 LTBP4 SMAD2 TGFBR1 TGFBR2
8 respiratory system MP:0005388 9.35 EFEMP2 LTBP4 SMAD2 TGFBR1 TGFBR2
9 skeleton MP:0005390 9.02 EFEMP2 EIF2AK3 SMAD2 TGFBR1 TGFBR2
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Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Ic

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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

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Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Ic

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

# Genetic test Affiliating Genes
1 Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities 30 LTBP4
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Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Ic

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

42
Skin, Lung, Bone, Eye
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Publications for Cutis Laxa, Autosomal Recessive, Type Ic

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

# Title Authors Year
1
Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms. ( 25713297 )
2015
2
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. ( 22829427 )
2013
3
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. ( 19836010 )
2009
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Variations for Cutis Laxa, Autosomal Recessive, Type Ic

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

76
# Symbol AA change Variation ID SNP ID
1 LTBP4 p.Cys311Gly VAR_064153 rs267607229

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

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 LTBP4 NM_003573.2(LTBP4): c.3554delA (p.Gln1185Argfs) deletion Pathogenic rs606231159 GRCh38 Chromosome 19, 40622647: 40622647
2 LTBP4 NM_003573.2(LTBP4): c.3554delA (p.Gln1185Argfs) deletion Pathogenic rs606231159 GRCh37 Chromosome 19, 41128552: 41128552
3 LTBP4 NM_003573.2(LTBP4): c.791delC (p.Pro264Argfs) deletion Pathogenic rs606231160 GRCh38 Chromosome 19, 40605739: 40605739
4 LTBP4 NM_003573.2(LTBP4): c.791delC (p.Pro264Argfs) deletion Pathogenic rs606231160 GRCh37 Chromosome 19, 41111645: 41111645
5 LTBP4 NM_003573.2(LTBP4): c.2571C> A (p.Cys857Ter) single nucleotide variant Pathogenic rs267607228 GRCh37 Chromosome 19, 41119359: 41119359
6 LTBP4 NM_003573.2(LTBP4): c.2571C> A (p.Cys857Ter) single nucleotide variant Pathogenic rs267607228 GRCh38 Chromosome 19, 40613453: 40613453
7 LTBP4 NM_003573.2(LTBP4): c.820T> G (p.Cys274Gly) single nucleotide variant Pathogenic rs267607229 GRCh37 Chromosome 19, 41111674: 41111674
8 LTBP4 NM_003573.2(LTBP4): c.820T> G (p.Cys274Gly) single nucleotide variant Pathogenic rs267607229 GRCh38 Chromosome 19, 40605768: 40605768
9 LTBP4 NM_001042544.1(LTBP4): c.4238dupC (p.Arg1414Alafs) duplication Pathogenic rs606231161 GRCh38 Chromosome 19, 40627026: 40627026
10 LTBP4 NM_001042544.1(LTBP4): c.4238dupC (p.Arg1414Alafs) duplication Pathogenic rs606231161 GRCh37 Chromosome 19, 41132931: 41132931
11 LTBP4 NM_001042544.1(LTBP4): c.1453C> T (p.Arg485Ter) single nucleotide variant Pathogenic rs397515430 GRCh37 Chromosome 19, 41114221: 41114221
12 LTBP4 NM_001042544.1(LTBP4): c.1453C> T (p.Arg485Ter) single nucleotide variant Pathogenic rs397515430 GRCh38 Chromosome 19, 40608315: 40608315
13 LTBP4 NM_003573.2(LTBP4): c.4115dupC (p.Tyr1373Ilefs) duplication Pathogenic rs797044471 GRCh38 Chromosome 19, 40627014: 40627014
14 LTBP4 NM_003573.2(LTBP4): c.4115dupC (p.Tyr1373Ilefs) duplication Pathogenic rs797044471 GRCh37 Chromosome 19, 41132919: 41132919
15 LTBP4 NM_003573.2(LTBP4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41132933: 41132933
16 LTBP4 NM_003573.2(LTBP4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 40627028: 40627028
17 LTBP4 NM_001042544.1(LTBP4): c.3422C> T (p.Thr1141Met) single nucleotide variant Benign rs10880 GRCh38 Chromosome 19, 40622404: 40622404
18 LTBP4 NM_001042544.1(LTBP4): c.3422C> T (p.Thr1141Met) single nucleotide variant Benign rs10880 GRCh37 Chromosome 19, 41128309: 41128309
19 LTBP4 NM_003573.2(LTBP4): c.3777C> T (p.Asp1259=) single nucleotide variant Benign rs7367 GRCh37 Chromosome 19, 41129842: 41129842
20 LTBP4 NM_003573.2(LTBP4): c.3777C> T (p.Asp1259=) single nucleotide variant Benign rs7367 GRCh38 Chromosome 19, 40623937: 40623937
21 LTBP4 NM_003573.2(LTBP4): c.1390T> A (p.Ser464Thr) single nucleotide variant Benign/Likely benign rs34545902 GRCh38 Chromosome 19, 40608363: 40608363
22 LTBP4 NM_003573.2(LTBP4): c.1390T> A (p.Ser464Thr) single nucleotide variant Benign/Likely benign rs34545902 GRCh37 Chromosome 19, 41114269: 41114269
23 LTBP4 NM_001042544.1(LTBP4): c.2359A> G (p.Thr787Ala) single nucleotide variant Benign rs1131620 GRCh37 Chromosome 19, 41117869: 41117869
24 LTBP4 NM_001042544.1(LTBP4): c.2359A> G (p.Thr787Ala) single nucleotide variant Benign rs1131620 GRCh38 Chromosome 19, 40611963: 40611963
25 LTBP4 NM_003573.2(LTBP4): c.2655C> T (p.Asp885=) single nucleotide variant Benign/Likely benign rs2077407 GRCh37 Chromosome 19, 41119829: 41119829
26 LTBP4 NM_003573.2(LTBP4): c.2655C> T (p.Asp885=) single nucleotide variant Benign/Likely benign rs2077407 GRCh38 Chromosome 19, 40613923: 40613923
27 LTBP4 NM_001042544.1(LTBP4): c.580G> A (p.Val194Ile) single nucleotide variant Benign rs2303729 GRCh37 Chromosome 19, 41111069: 41111069
28 LTBP4 NM_001042544.1(LTBP4): c.580G> A (p.Val194Ile) single nucleotide variant Benign rs2303729 GRCh38 Chromosome 19, 40605163: 40605163
29 LTBP4 NM_001042544.1(LTBP4): c.2458A> G (p.Thr820Ala) single nucleotide variant Benign rs1051303 GRCh38 Chromosome 19, 40612150: 40612150
30 LTBP4 NM_001042544.1(LTBP4): c.2458A> G (p.Thr820Ala) single nucleotide variant Benign rs1051303 GRCh37 Chromosome 19, 41118056: 41118056
31 LTBP4 NM_003573.2(LTBP4): c.3124dupG (p.Tyr1043Leufs) duplication Benign rs59030801 GRCh37 Chromosome 19, 41123095: 41123095
32 LTBP4 NM_003573.2(LTBP4): c.3124dupG (p.Tyr1043Leufs) duplication Benign rs59030801 GRCh38 Chromosome 19, 40617190: 40617190
33 LTBP4 NM_003573.2(LTBP4): c.254delT (p.Leu85Argfs) deletion Pathogenic rs747013505 GRCh37 Chromosome 19, 41105997: 41105997
34 LTBP4 NM_003573.2(LTBP4): c.254delT (p.Leu85Argfs) deletion Pathogenic rs747013505 GRCh38 Chromosome 19, 40600091: 40600091
35 LTBP4 NM_003573.2(LTBP4): c.2144-11C> A single nucleotide variant Benign/Likely benign rs41470347 GRCh37 Chromosome 19, 41117754: 41117754
36 LTBP4 NM_003573.2(LTBP4): c.2144-11C> A single nucleotide variant Benign/Likely benign rs41470347 GRCh38 Chromosome 19, 40611848: 40611848
37 LTBP4 NM_003573.2(LTBP4): c.2265C> T (p.Cys755=) single nucleotide variant Benign/Likely benign rs141810975 GRCh37 Chromosome 19, 41117886: 41117886
38 LTBP4 NM_003573.2(LTBP4): c.2265C> T (p.Cys755=) single nucleotide variant Benign/Likely benign rs141810975 GRCh38 Chromosome 19, 40611980: 40611980
39 LTBP4 NM_003573.2(LTBP4): c.2389+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs73544980 GRCh37 Chromosome 19, 41118107: 41118107
40 LTBP4 NM_003573.2(LTBP4): c.2389+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs73544980 GRCh38 Chromosome 19, 40612201: 40612201
41 LTBP4 NM_003573.2(LTBP4): c.1328G> A (p.Gly443Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs114749335 GRCh37 Chromosome 19, 41114207: 41114207
42 LTBP4 NM_003573.2(LTBP4): c.1328G> A (p.Gly443Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs114749335 GRCh38 Chromosome 19, 40608301: 40608301
43 LTBP4 NM_003573.2(LTBP4): c.79C> T (p.Leu27=) single nucleotide variant Conflicting interpretations of pathogenicity rs370696272 GRCh38 Chromosome 19, 40599405: 40599405
44 LTBP4 NM_003573.2(LTBP4): c.79C> T (p.Leu27=) single nucleotide variant Conflicting interpretations of pathogenicity rs370696272 GRCh37 Chromosome 19, 41105311: 41105311
45 LTBP4 NM_003573.2(LTBP4): c.310C> G (p.Pro104Ala) single nucleotide variant Uncertain significance rs886054444 GRCh38 Chromosome 19, 40600147: 40600147
46 LTBP4 NM_003573.2(LTBP4): c.310C> G (p.Pro104Ala) single nucleotide variant Uncertain significance rs886054444 GRCh37 Chromosome 19, 41106053: 41106053
47 LTBP4 NM_003573.2(LTBP4): c.533-14C> T single nucleotide variant Uncertain significance rs375934176 GRCh38 Chromosome 19, 40605391: 40605391
48 LTBP4 NM_003573.2(LTBP4): c.533-14C> T single nucleotide variant Uncertain significance rs375934176 GRCh37 Chromosome 19, 41111297: 41111297
49 LTBP4 NM_003573.2(LTBP4): c.788C> T (p.Ser263Phe) single nucleotide variant Uncertain significance rs886054445 GRCh38 Chromosome 19, 40605736: 40605736
50 LTBP4 NM_003573.2(LTBP4): c.788C> T (p.Ser263Phe) single nucleotide variant Uncertain significance rs886054445 GRCh37 Chromosome 19, 41111642: 41111642
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Expression for Cutis Laxa, Autosomal Recessive, Type Ic

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

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

(show all 41)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 65
Show member pathways
 13.53 EFEMP2 LTBP4 SMAD2 TGFBR1 TGFBR2
2
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 12.63 EIF2AK3 TGFBR1 TGFBR2
3
Endometrial cancer 38
Show member pathways
 12.6 SMAD2 TGFBR1 TGFBR2
4
Pathways in cancer 38
12.58 SMAD2 TGFBR1 TGFBR2
5
Deubiquitination 67
Show member pathways
 12.57 SMAD2 TGFBR1 TGFBR2
6
Gastric cancer 38
Show member pathways
 12.51 SMAD2 TGFBR1 TGFBR2
7
Th17 cell differentiation 38
Show member pathways
 12.37 SMAD2 TGFBR1 TGFBR2
8
Development EGFR signaling pathway 23
Show member pathways
 12.31 SMAD2 TGFBR1 TGFBR2
9
Human Embryonic Stem Cell Pluripotency 65
Show member pathways
 12.27 SMAD2 TGFBR1 TGFBR2
10
Endocytosis 38
12.2 SMAD2 TGFBR1 TGFBR2
11
Human T-cell leukemia virus 1 infection 38
12.16 SMAD2 TGFBR1 TGFBR2
12
Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer 67
Show member pathways
 12.1 SMAD2 TGFBR1 TGFBR2
13
Cell cycle Role of SCF complex in cell cycle regulation 23
Show member pathways
 12.04 SMAD2 TGFBR1 TGFBR2
14
Colorectal Cancer Metastasis 65
11.99 SMAD2 TGFBR1 TGFBR2
15
Cellular senescence (KEGG) 38
11.97 SMAD2 TGFBR1 TGFBR2
16
Hippo signaling pathway 38
11.95 SMAD2 TGFBR1 TGFBR2
17
Integrated Breast Cancer Pathway 1
11.94 SMAD2 TGFBR1 TGFBR2
18
FoxO signaling pathway 38
Show member pathways
 11.88 SMAD2 TGFBR1 TGFBR2
19
SMAD Signaling Network 65
11.87 SMAD2 TGFBR1 TGFBR2
20
TGF-beta Signaling Pathway (WikiPathways) 1
11.86 SMAD2 TGFBR1 TGFBR2
21
Th1 Differentiation Pathway 66
Show member pathways
 11.84 SMAD2 TGFBR1 TGFBR2
22
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.77 LTBP4 SMAD2 TGFBR1 TGFBR2
23
AGE-RAGE signaling pathway in diabetic complications 38
11.7 SMAD2 TGFBR1 TGFBR2
24
TGF-beta Signaling Pathways 66
11.67 SMAD2 TGFBR1 TGFBR2
25
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.64 SMAD2 TGFBR1 TGFBR2
26
TGF-beta signaling pathway (KEGG) 38
11.63 SMAD2 TGFBR1 TGFBR2
27
Elastic fibre formation 67
Show member pathways
 11.54 EFEMP2 LTBP4
28
Transcription_P53 signaling pathway 23
11.51 SMAD2 TGFBR1 TGFBR2
29
Adherens junction 38
11.47 SMAD2 TGFBR1 TGFBR2
30
Development_TGF-beta receptor signaling 23
11.44 SMAD2 TGFBR1 TGFBR2
31
IL-2 Gene Expression in Activated and Quiescent T-Cells 65
Show member pathways
 11.4 SMAD2 TGFBR1 TGFBR2
32
TGF-beta receptor signaling activates SMADs 67
Show member pathways
 11.39 SMAD2 TGFBR1 TGFBR2
33
Cell adhesion_Plasmin signaling 23
11.35 TGFBR1 TGFBR2
34
Microglia Activation During Neuroinflammation: Steady-State Microglia 66
11.31 TGFBR1 TGFBR2
35
TGF-beta Receptor Signaling (WikiPathways) 1
11.26 SMAD2 TGFBR1 TGFBR2
36
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.14 SMAD2 TGFBR1 TGFBR2
37
ALK1 signaling events 1
Show member pathways
 11.06 TGFBR1 TGFBR2
38
NTHi-Induced Signaling 65
10.95 TGFBR1 TGFBR2
39
Extracellular vesicle-mediated signaling in recipient cells 1
10.81 SMAD2 TGFBR1 TGFBR2
40
Glypican 1 network 1
10.55 SMAD2 TGFBR1 TGFBR2
41
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.2 SMAD2 TGFBR1 TGFBR2
Sources

GO Terms for Cutis Laxa, Autosomal Recessive, Type Ic

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.83 EIF2AK3 SMAD2 TGFBR1 TGFBR2
2 positive regulation of gene expression GO:0010628 9.78 EIF2AK3 SMAD2 TGFBR1
3 heart development GO:0007507 9.75 SMAD2 TGFBR1 TGFBR2
4 in utero embryonic development GO:0001701 9.73 SMAD2 TGFBR1 TGFBR2
5 peptidyl-serine phosphorylation GO:0018105 9.65 EIF2AK3 TGFBR1 TGFBR2
6 lung development GO:0030324 9.63 SMAD2 TGFBR2
7 regulation of growth GO:0040008 9.63 TGFBR1 TGFBR2
8 wound healing GO:0042060 9.63 SMAD2 TGFBR1 TGFBR2
9 post-embryonic development GO:0009791 9.62 SMAD2 TGFBR1
10 response to glucose GO:0009749 9.62 SMAD2 TGFBR2
11 peptidyl-threonine phosphorylation GO:0018107 9.61 TGFBR1 TGFBR2
12 ventricular septum morphogenesis GO:0060412 9.6 TGFBR1 TGFBR2
13 lens development in camera-type eye GO:0002088 9.59 TGFBR1 TGFBR2
14 gastrulation GO:0007369 9.58 SMAD2 TGFBR2
15 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.57 LTBP4 SMAD2
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.55 TGFBR1 TGFBR2
17 activin receptor signaling pathway GO:0032924 9.54 SMAD2 TGFBR1
18 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.54 SMAD2 TGFBR1 TGFBR2
19 secondary palate development GO:0062009 9.51 SMAD2 TGFBR2
20 pattern specification process GO:0007389 9.5 SMAD2 TGFBR1 TGFBR2
21 pathway-restricted SMAD protein phosphorylation GO:0060389 9.49 TGFBR1 TGFBR2
22 common-partner SMAD protein phosphorylation GO:0007182 9.43 SMAD2 TGFBR2
23 positive regulation of epithelial to mesenchymal transition GO:0010718 9.43 SMAD2 TGFBR1 TGFBR2
24 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.4 TGFBR1 TGFBR2
25 embryonic cranial skeleton morphogenesis GO:0048701 9.33 SMAD2 TGFBR1 TGFBR2
26 transforming growth factor beta receptor signaling pathway GO:0007179 9.26 LTBP4 SMAD2 TGFBR1 TGFBR2
27 response to cholesterol GO:0070723 8.8 SMAD2 TGFBR1 TGFBR2

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.65 EIF2AK3 TGFBR1 TGFBR2
2 protein serine/threonine kinase activity GO:0004674 9.63 EIF2AK3 TGFBR1 TGFBR2
3 glycosaminoglycan binding GO:0005539 9.43 LTBP4 TGFBR2
4 SMAD binding GO:0046332 9.43 SMAD2 TGFBR1 TGFBR2
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 TGFBR1 TGFBR2
6 type I transforming growth factor beta receptor binding GO:0034713 9.37 SMAD2 TGFBR2
7 growth factor binding GO:0019838 9.33 LTBP4 TGFBR1 TGFBR2
8 I-SMAD binding GO:0070411 9.32 SMAD2 TGFBR1
9 transforming growth factor beta binding GO:0050431 9.13 LTBP4 TGFBR1 TGFBR2
10 transforming growth factor beta-activated receptor activity GO:0005024 8.8 LTBP4 TGFBR1 TGFBR2
Sources

Sources for Cutis Laxa, Autosomal Recessive, Type Ic

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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