ARCL1
MCID: ATS393
MIFTS: 46

Autosomal Recessive Cutis Laxa Type I (ARCL1)

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 Autosomal Recessive Cutis Laxa Type I

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type I:

Name: Autosomal Recessive Cutis Laxa Type I 11 14
Cutis Laxa, Autosomal Recessive, Type I 43 71
Autosomal Recessive Cutis Laxa Type 1 11 58
Cutis Laxa, Type 1 19 5
Autosomal Recessive Cutis Laxa with Severe Systemic Involvement 58
Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type 58
Cutis Laxa, Autosomal Recessive Type 1 19
Cutis Laxa, Autosomal Recessive 19
Arcl1 58

Characteristics:


Inheritance:

Autosomal Recessive Cutis Laxa Type 1: Autosomal recessive 58

Prevelance:

Autosomal Recessive Cutis Laxa Type 1: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Cutis Laxa Type 1: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Autosomal Recessive Cutis Laxa Type I

GARD: 19 A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

MalaCards based summary: Autosomal Recessive Cutis Laxa Type I, also known as cutis laxa, autosomal recessive, type i, is related to cutis laxa, autosomal recessive, type iid and cutis laxa, autosomal recessive, type iiia. An important gene associated with Autosomal Recessive Cutis Laxa Type I is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Phospholipase-C Pathway and NF-KappaB Family Pathway. Affiliated tissues include skin, lung and heart, and related phenotypes are emphysema and redundant skin

Orphanet: 58 A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

Disease Ontology: 11 A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems.

Related Diseases for Autosomal Recessive Cutis Laxa Type I

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 Autosomal Recessive Cutis Laxa Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iid 32.5 RIN2 GORAB ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal recessive, type iiia 32.0 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
3 cutis laxa, autosomal recessive, type iiib 32.0 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
4 cutis laxa, autosomal recessive, type iib 31.7 SLC2A10 RIN2 PYCR1 LTBP4 GORAB FBLN5
5 cutis laxa, autosomal dominant 3 31.6 PYCR1 ALDH18A1
6 cutis laxa, autosomal recessive, type ia 31.5 LTBP4 FBLN7 FBLN5 ELN EFEMP2 ATP6V0A2
7 cutis laxa, autosomal recessive, type iia 31.3 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
8 cutis laxa, autosomal recessive, type ic 30.8 RIN2 LTBP4 LTBP3 LTBP2 LTBP1 GORAB
9 cutis laxa, autosomal recessive, type ib 30.6 SLC2A10 RIN2 PYCR1 LTBP4 GORAB FBLN7
10 arterial tortuosity syndrome 30.0 SLC2A10 LTBP4 FBN1 FBLN5 ELN EFEMP2
11 wrinkly skin syndrome 29.6 PYCR1 GORAB FBLN5 ELN EFEMP2 ATP6V0A2
12 aortic aneurysm 29.6 SLC2A10 LTBP4 LOX FBN1 FBLN5 ELN
13 cutis laxa 27.7 SLC2A10 RIN2 PYCR1 LTBP4 LTBP3 LTBP1
14 cutis laxa, autosomal recessive, type iic 11.6
15 cutis laxa, autosomal recessive, type iie 11.6
16 atp6v0a2-related cutis laxa 11.3
17 eln-related cutis laxa 11.3
18 cutis laxa, autosomal dominant 2 10.3 FBLN5 EFEMP2
19 acquired cutis laxa 10.2
20 efemp2-related cutis laxa 10.2
21 subclavian artery aneurysm 10.2 FBN1 ELN
22 macs syndrome 10.2 RIN2 FBLN5
23 aortitis 10.2 FBN1 ELN
24 weill-marchesani syndrome 1 10.1 LTBP2 FBN1
25 aortic valve insufficiency 10.1 FBN1 ELN EFEMP2
26 hydrophthalmos 10.1 LTBP3 LTBP2
27 pneumothorax 10.1 FBN1 FBLN5 ELN
28 spastic paraplegia 76, autosomal recessive 10.1 LTBP3 LTBP2
29 tricuspid valve prolapse 10.1 SLC2A10 FBN1 EFEMP2
30 tracheal stenosis 10.1 LTBP3 FBN1 ELN
31 loeys-dietz syndrome 3 10.1 SLC2A10 FBN1 EFEMP2
32 aortic disease 10.1 FBN1 ELN EFEMP2
33 ehlers-danlos syndrome, vascular type 10.1 FBN1 FBLN5 ELN EFEMP2
34 retinal drusen 10.0 FBLN5 FBLN1 EFEMP2
35 leukodystrophy, hypomyelinating, 10 10.0 PYCR1 ALDH18A1
36 loeys-dietz syndrome 4 10.0 SLC2A10 FBN1 ELN
37 geleophysic dysplasia 3 10.0 LTBP3 LTBP2 FBN1
38 geleophysic dysplasia 2 10.0 LTBP3 LTBP2 FBN1
39 geleophysic dysplasia 1 10.0 LTBP3 LTBP2 FBN1
40 collagen disease 10.0 SLC2A10 FBN1 ELN
41 brachyolmia 10.0 LTBP3 LTBP2
42 patent foramen ovale 10.0 LTBP4 FBN1 ELN
43 lens subluxation 10.0 LTBP3 LTBP2 FBN1
44 megalocornea 10.0 LTBP3 LTBP2 FBN1
45 pelvic organ prolapse 10.0 LOX FBLN5 ELN
46 intraocular pressure quantitative trait locus 10.0 LTBP2 FBN1 ELN
47 patent ductus arteriosus 1 9.9 SLC2A10 FBN1 ELN EFEMP2
48 supravalvular aortic stenosis 9.9 LTBP4 FBN1 FBLN5 ELN EFEMP2
49 acromicric dysplasia 9.9 LTBP3 LTBP2 LTBP1 FBN1
50 dental anomalies and short stature 9.9 LTBP4 LTBP3 LTBP2 FBN1

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



Diseases related to Autosomal Recessive Cutis Laxa Type I

Symptoms & Phenotypes for Autosomal Recessive Cutis Laxa Type I

Human phenotypes related to Autosomal Recessive Cutis Laxa Type I:

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002097
2 redundant skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001582
3 lack of skin elasticity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100679
4 fragmented elastic fibers in the dermis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025167
5 dermatochalasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010750
6 respiratory insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0002093
7 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000023
8 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
9 congestive heart failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001635
10 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
11 pneumothorax 58 30 Frequent (33%) Frequent (79-30%)
HP:0002107
12 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
13 joint laxity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001388
14 peripheral pulmonary artery stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004969
15 joint subluxation 58 30 Frequent (33%) Frequent (79-30%)
HP:0032153
16 pathologic fracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0002756
17 abnormal systemic arterial morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0011004
18 abnormality of the thoracic cavity 58 30 Frequent (33%) Frequent (79-30%)
HP:0045027
19 abnormal cheek morphology 30 Frequent (33%) HP:0004426
20 abnormal skull morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000929
21 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
22 hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002827
23 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000010
24 supravalvular aortic stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004381
25 recurrent pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006532
26 pyloric stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002021
27 pyelonephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012330
28 small bowel diverticula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002256
29 dilatation of the ventricular cavity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006698
30 abnormal cardiac ventricular function 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030872
31 multiple bladder diverticula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012619
32 urethral diverticulum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008722
33 intellectual disability 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001249
34 cataract 58 Excluded (0%)
35 microcephaly 58 Excluded (0%)
36 hernia 58 Frequent (79-30%)
37 downslanted palpebral fissures 58 Excluded (0%)
38 abnormality of the face 58 Frequent (79-30%)
39 dystonia 58 Excluded (0%)
40 wide anterior fontanel 58 Excluded (0%)
41 delayed cranial suture closure 58 Excluded (0%)
42 dilatation 58 Occasional (29-5%)
43 abnormality of cardiovascular system morphology 58 Frequent (79-30%)
44 severe short stature 58 Excluded (0%)
45 cutis laxa 58 Obligate (100%)
46 morphological abnormality of the central nervous system 58 Excluded (0%)
47 abnormality of the cheek 58 Frequent (79-30%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.09 ALDH18A1 ATP6V0A2 EFEMP2 ELN FBLN1 FBLN2
2 no effect GR00402-S-2 10.09 FBLN2 FBLN7 GORAB LOX LTBP1 LTBP4

MGI Mouse Phenotypes related to Autosomal Recessive Cutis Laxa Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 EFEMP2 ELN FBLN1 FBLN2 FBLN5 FBLN7
2 muscle MP:0005369 9.92 EFEMP2 ELN FBLN1 FBLN5 FBN1 LOX
3 craniofacial MP:0005382 9.8 FBLN1 FBLN5 FBN1 GORAB LOX LTBP1
4 respiratory system MP:0005388 9.73 EFEMP2 ELN FBLN1 FBLN5 FBLN7 FBN1
5 integument MP:0010771 9.36 ALDH18A1 ATP6V0A2 EFEMP2 FBLN1 FBLN5 FBLN7

Drugs & Therapeutics for Autosomal Recessive Cutis Laxa Type I

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

Cochrane evidence based reviews: cutis laxa, autosomal recessive, type i

Genetic Tests for Autosomal Recessive Cutis Laxa Type I

Anatomical Context for Autosomal Recessive Cutis Laxa Type I

Organs/tissues related to Autosomal Recessive Cutis Laxa Type I:

MalaCards : Skin, Lung, Heart

Publications for Autosomal Recessive Cutis Laxa Type I

Articles related to Autosomal Recessive Cutis Laxa Type I:

# Title Authors PMID Year
1
Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature. 62
35445908 2022
2
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA. 62
32143220 2020
3
RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION. 62
28726647 2017
4
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? 62
27730053 2016
5
Generalized acquired cutis laxa type 1: a case report and brief review of literature. 62
27136630 2016
6
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 62
22829427 2013
7
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 62
21204221 2011
8
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 62
20389311 2010
9
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 62
19664000 2009

Variations for Autosomal Recessive Cutis Laxa Type I

ClinVar genetic disease variations for Autosomal Recessive Cutis Laxa Type I:

5 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*60dup DUP Uncertain Significance
307600 rs747772644 GRCh37: 12:124242636-124242637
GRCh38: 12:123758089-123758090
2 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2984_*2986del DEL Uncertain Significance
307634 rs886049075 GRCh37: 12:124245561-124245563
GRCh38: 12:123761014-123761016
3 PYCR1 NM_006907.4(PYCR1):c.*195_*196del DEL Uncertain Significance
325899 rs886053570 GRCh37: 17:79890894-79890895
GRCh38: 17:81933018-81933019
4 ALDH18A1 NM_002860.4(ALDH18A1):c.*803del DEL Uncertain Significance
301744 rs775267777 GRCh37: 10:97365716-97365716
GRCh38: 10:95605959-95605959
5 PYCR1 NM_006907.4(PYCR1):c.598C>T (p.Arg200Cys) SNV Uncertain Significance
325905 rs778823558 GRCh37: 17:79892564-79892564
GRCh38: 17:81934688-81934688
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.-170C>A SNV Uncertain Significance
307574 rs540324717 GRCh37: 12:124196943-124196943
GRCh38: 12:123712396-123712396
7 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2344_*2346dup DUP Uncertain Significance
307627 rs886049074 GRCh37: 12:124244921-124244922
GRCh38: 12:123760374-123760375
8 ALDH18A1 NM_002860.4(ALDH18A1):c.453+13del DEL Uncertain Significance
301776 rs773804418 GRCh37: 10:97397031-97397031
GRCh38: 10:95637274-95637274
9 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2186_*2189del DEL Uncertain Significance
307625 rs772714418 GRCh37: 12:124244762-124244765
GRCh38: 12:123760215-123760218
10 PYCR1 NM_006907.4(PYCR1):c.*746C>T SNV Uncertain Significance
325892 rs886053566 GRCh37: 17:79890344-79890344
GRCh38: 17:81932468-81932468
11 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.*165dup DUP Uncertain Significance
305374 rs201135561 GRCh37: 11:65634223-65634224
GRCh38: 11:65866752-65866753
12 ALDH18A1 NM_002860.3(ALDH18A1):c.-162A>G SNV Uncertain Significance
301783 rs886047515 GRCh37: 10:97416487-97416487
GRCh38: 10:95656730-95656730
13 ALDH18A1 NM_002860.3(ALDH18A1):c.*829C>T SNV Uncertain Significance
301743 rs375868871 GRCh37: 10:97365690-97365690
GRCh38: 10:95605933-95605933
14 ALDH18A1 NM_002860.3(ALDH18A1):c.-223C>G SNV Uncertain Significance
301786 rs566221549 GRCh37: 10:97416548-97416548
GRCh38: 10:95656791-95656791
15 EFEMP2 NM_016938.4(EFEMP2):c.-143_-140GGCG[4] MICROSAT Uncertain Significance
305389 rs886048508 GRCh37: 11:65640275-65640276
GRCh38: 11:65872804-65872805
16 ALDH18A1 NM_002860.3(ALDH18A1):c.-166T>C SNV Uncertain Significance
301784 rs185345785 GRCh37: 10:97416491-97416491
GRCh38: 10:95656734-95656734
17 ATP6V0A2 NM_012463.3(ATP6V0A2):c.-243C>A SNV Uncertain Significance
307571 rs886049058 GRCh37: 12:124196870-124196870
GRCh38: 12:123712323-123712323
18 EFEMP2 NM_016938.4(EFEMP2):c.-181G>A SNV Uncertain Significance
305390 rs886048509 GRCh37: 11:65640327-65640327
GRCh38: 11:65872856-65872856
19 ALDH18A1 NM_002860.3(ALDH18A1):c.-189T>C SNV Uncertain Significance
301785 rs886047516 GRCh37: 10:97416514-97416514
GRCh38: 10:95656757-95656757
20 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) SNV Uncertain Significance
194862 rs150508296 GRCh37: 12:124239020-124239020
GRCh38: 12:123754473-123754473
21 EFEMP2 NM_016938.4(EFEMP2):c.-229G>C SNV Uncertain Significance
305391 rs886048510 GRCh37: 11:65640375-65640375
GRCh38: 11:65872904-65872904
22 ATP6V0A2 NM_012463.3(ATP6V0A2):c.-227A>G SNV Likely Benign
307572 rs561163813 GRCh37: 12:124196886-124196886
GRCh38: 12:123712339-123712339
23 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.*45G>A SNV Likely Benign
307562 rs142969969 GRCh37: 12:124192305-124192305
GRCh38: 12:123707758-123707758
24 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) SNV Likely Benign
126286 rs112158562 GRCh37: 12:124192207-124192207
GRCh38: 12:123707660-123707660
25 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1724+20del DEL Likely Benign
307590 rs375845531 GRCh37: 12:124232284-124232284
GRCh38: 12:123747737-123747737
26 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.*412T>C SNV Likely Benign
307568 rs112525270 GRCh37: 12:124192672-124192672
GRCh38: 12:123708125-123708125
27 ALDH18A1 NM_002860.4(ALDH18A1):c.-69CG[4] MICROSAT Likely Benign
301779 rs200542959 GRCh37: 10:97416390-97416391
GRCh38: 10:95656633-95656634
28 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.*87C>T SNV Likely Benign
307563 rs113292231 GRCh37: 12:124192347-124192347
GRCh38: 12:123707800-123707800
29 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2128_*2129del DEL Likely Benign
307623 rs150303181 GRCh37: 12:124244706-124244707
GRCh38: 12:123760159-123760160
30 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.*67C>T SNV Likely Benign
368984 rs112214860 GRCh37: 12:124192327-124192327
GRCh38: 12:123707780-123707780
31 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.*468C>T SNV Benign
307569 rs7398298 GRCh37: 12:124192728-124192728
GRCh38: 12:123708181-123708181
32 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.*155G>A SNV Benign
307564 rs12811354 GRCh37: 12:124192415-124192415
GRCh38: 12:123707868-123707868
33 ATP6V0A2, TCTN2 NM_024809.5(TCTN2):c.*330_*331insACTC INSERT Benign
307567 rs56918215 GRCh37: 12:124192587-124192588
GRCh38: 12:123708040-123708041
34 TCTN2, ATP6V0A2 NM_012463.4(ATP6V0A2):c.-14C>T SNV Benign
95515 rs1139320 GRCh37: 12:124197099-124197099
GRCh38: 12:123712552-123712552
35 TCTN2, ATP6V0A2 NM_012463.3(ATP6V0A2):c.-222C>G SNV Benign
307573 rs71458814 GRCh37: 12:124196891-124196891
GRCh38: 12:123712344-123712344

Expression for Autosomal Recessive Cutis Laxa Type I

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

Pathways for Autosomal Recessive Cutis Laxa Type I

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 ELN
2
Show member pathways
12.43 LTBP4 LTBP3 LTBP2 LTBP1
3
Show member pathways
12.34 LTBP4 LTBP3 LTBP2 LTBP1 LOX FBN1
4
Show member pathways
12.2 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
5
Show member pathways
11.73 LTBP3 LTBP1 FBN1
6 11.55 ELN FBLN2 FBLN5 FBN1
7
Show member pathways
11.55 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
8 11.47 LTBP4 LTBP3 LTBP2 LTBP1
9
Show member pathways
11.27 LTBP4 LTBP3 LTBP2 LTBP1 LOX FBN1
10 11.22 FBLN2 FBLN1 ELN
11 11.01 LTBP2 LTBP1 FBN1
12
Show member pathways
10.99 PYCR1 ALDH18A1
13 10.7 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 ELN

GO Terms for Autosomal Recessive Cutis Laxa Type I

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.38 LTBP4 LTBP3 LTBP2 LTBP1 LOX FBN1
2 collagen-containing extracellular matrix GO:0062023 10 EFEMP2 ELN FBLN1 FBLN2 FBLN5 FBN1
3 microfibril GO:0001527 9.86 EFEMP2 FBN1 LTBP1 LTBP4
4 elastic fiber GO:0071953 9.76 FBLN5 FBLN1 ELN EFEMP2
5 extracellular matrix GO:0031012 9.66 LTBP4 LTBP3 LTBP2 LTBP1 LOX FBN1

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

# Name GO ID Score Top Affiliating Genes
1 L-proline biosynthetic process GO:0055129 9.56 PYCR1 ALDH18A1
2 proline biosynthetic process GO:0006561 9.46 PYCR1 ALDH18A1
3 amino acid biosynthetic process GO:0008652 9.32 PYCR1 ALDH18A1
4 elastic fiber assembly GO:0048251 9.28 LTBP4 LTBP3 LOX FBLN5 EFEMP2
5 sequestering of TGFbeta in extracellular matrix GO:0035583 9.26 LTBP1 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 10.16 EFEMP2 FBLN1 FBLN2 FBLN5 FBLN7 FBN1
2 heparin binding GO:0008201 10.03 LTBP2 FBN1 FBLN7 EFEMP2
3 integrin binding GO:0005178 10.01 LTBP4 FBN1 FBLN5 FBLN1
4 transforming growth factor beta binding GO:0050431 9.8 LTBP4 LTBP3 LTBP1
5 transforming growth factor beta receptor activity GO:0005024 9.76 LTBP4 LTBP1
6 microfibril binding GO:0050436 9.67 LTBP1 LTBP2
7 growth factor binding GO:0019838 9.65 LTBP4 LTBP3 LTBP2 LTBP1
8 extracellular matrix constituent conferring elasticity GO:0030023 9.56 FBN1 FBLN5 FBLN2 ELN
9 extracellular matrix structural constituent GO:0005201 9.53 LTBP4 LTBP2 LTBP1 FBN1 FBLN2 FBLN1

Sources for Autosomal Recessive Cutis Laxa Type I

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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