ARCL1
MCID: ATS393
MIFTS: 49

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

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 12 15
Cutis Laxa, Autosomal Recessive, Type I 44 70
Autosomal Recessive Cutis Laxa Type 1 12 58
Cutis Laxa, Type 1 20 6
Autosomal Recessive Cutis Laxa with Severe Systemic Involvement 58
Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type 58
Cutis Laxa, Autosomal Recessive Type 1 20
Cutis Laxa, Autosomal Recessive 20
Arcl1 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cutis laxa type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

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


Summaries for Autosomal Recessive Cutis Laxa Type I

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90349 Definition 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). Epidemiology The prevalence of ARCL1 is unknown but around 60 cases have been reported in the literature so far. Clinical description The skin manifestations affect the whole body and are usually recognizable from birth. The excessive lax skin is particularly prominent around the axillae, groins and neck and on the face (giving patients an aged appearance with eyelid ptosis and drooping cheeks). Pulmonary emphysema develops early in life (during the neonatal period or by early childhood), often leading to respiratory failure. Common vascular anomalies include arterial aneurysms, fibromuscular artery dysplasia and stenosis leading to progressive heart failure. Genitourinary tract diverticuli lead to vesicoureteral reflux and recurrent infections. Less frequent findings include late closure of the fontanel, joint laxity, hip dislocation, inguinal hernia, arachnodactyly, bone fragility, vascular tortuosity and aortic aneurysm. Intelligence is normal. Etiology ARCL1 is genetically heterogeneous and, although the etiology remains unknown in the majority of cases, mutations have been identified in some patients in the FBLN5 (14q31) and EFEMP2 (11q13) genes, encoding the extracellular matrix proteins fibulin-5 and EGF-containing fibulin-like extracellular matrix protein 2 (Fibulin-4), respectively. Arachnodactyly, bone fragility, vascular tortuosity and aortic aneurysms are common findings in patients carrying EFEMP2 mutations. Diagnostic methods Detailed clinical evaluation and histological studies of skin biopsies (revealing a moth-eaten appearance, abnormal elastin fiber branching and lose microfibrils associated with reduced elastin synthesis) are usually diagnostic in ARCL1. Molecular testing, available on a research basis only, may confirm the diagnosis in carriers of FBLN5 and EFEMP2 mutations. Differential diagnosis The differential diagnosis should include other forms of CL ( autosomal recessive type 2, autosomal dominant and X-lined CL) and related syndromes (gerodermia osteodysplastica, Cantu syndrome, wrinkly skin syndrome and De Barsy syndrome), together with the Ehlers-Danlos syndromes and Costello syndrome (see these terms). Genetic counseling Genetic counseling should be provided to affected families and prenatal diagnosis through molecular testing is feasible for families in which the disease-causing mutation has been identified. Management and treatment There are no effective therapeutic strategies available for ARCL1. Care should be multidisciplinary with symptomatic treatment of pulmonary emphysema, prophylactic therapy for infections and hernia repair. Prognosis The disease course in ARCL1 is severe, with most patients dying in childhood from cardiac or respiratory failure.

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 iiia and cutis laxa, autosomal recessive, type iid. An important gene associated with Autosomal Recessive Cutis Laxa Type I is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. Affiliated tissues include skin, eye and heart, and related phenotypes are emphysema and redundant skin

Disease Ontology : 12 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
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 Autosomal Recessive Cutis Laxa Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 32.4 RIN2 PYCR1 GORAB ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal recessive, type iid 32.4 RIN2 LTBP4 GORAB ATP6V0A2 ALDH18A1
3 cutis laxa, autosomal recessive, type iiib 32.2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
4 cutis laxa, autosomal recessive, type iia 31.9 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
5 cutis laxa, autosomal recessive, type iib 31.8 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
6 efemp2-related cutis laxa 30.9 MUS81 EFEMP2
7 acquired cutis laxa 30.8 FBLN5 ELN
8 cutis laxa, autosomal recessive, type ic 30.6 RIN2 PYCR1 LTBP4 LTBP3 GORAB FBLN5
9 cutis laxa, autosomal dominant 1 30.5 SLC2A10 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
10 wrinkly skin syndrome 30.5 PYCR1 ATP6V0A2
11 cutis laxa, autosomal recessive, type ib 30.1 RIN2 PYCR1 MUS81 LTBP4 GORAB FBN1
12 cutis laxa, autosomal recessive, type ia 29.7 SLC2A10 RIN2 PYCR1 MUS81 LTBP4 GORAB
13 arterial tortuosity syndrome 29.5 SLC2A10 LTBP4 FBN1 FBLN5 ELN EFEMP2
14 cutis laxa 27.3 TGFB1 RIN2 PYCR1 MUS81 LTBP4 LTBP3
15 cutis laxa, autosomal recessive, type iic 11.8
16 atp6v0a2-related cutis laxa 11.3
17 cutis laxa, autosomal dominant 3 10.9
18 meester-loeys syndrome 10.2 SLC2A10 EFEMP2
19 macs syndrome 10.2 RIN2 FBLN5
20 spastic paraplegia 9b, autosomal recessive 10.1 PYCR1 ALDH18A1
21 spastic paraplegia 9a, autosomal dominant 10.1 PYCR1 ALDH18A1
22 alacrima, achalasia, and mental retardation syndrome 10.1
23 leukodystrophy, hypomyelinating, 10 10.1 PYCR1 ALDH18A1
24 late-onset focal dermal elastosis 10.1 FBN1 ELN
25 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.1 FBN1 ELN
26 familial abdominal aortic aneurysm 10.1 FBN1 ELN
27 chronic actinic dermatitis 10.1 FBN1 ELN
28 fbln5-related cutis laxa 10.0 MUS81 FBLN5 ELN EFEMP2
29 cutis laxa, autosomal dominant 2 10.0 FBLN5 ELN
30 hypertrophic scars 10.0 TGFB1 FBN1
31 hemopericardium 10.0 FBN1 ELN
32 neu-laxova syndrome 2 10.0 ELN ALDH18A1
33 subclavian artery aneurysm 10.0 SLC2A10 FBN1
34 aortic aneurysm, familial thoracic 2 10.0 SLC2A10 FBN1
35 mid-dermal elastolysis 10.0 FBN1 FBLN5 ELN
36 diaphragmatic eventration 9.9 LTBP4 FBN1
37 aortic valve insufficiency 9.9 FBN1 ELN EFEMP2
38 pelvic organ prolapse 9.9 FBN1 FBLN5 ELN
39 aortic aneurysm, familial thoracic 6 9.9 SLC2A10 FBN1
40 pneumothorax 9.9 FBN1 FBLN5 ELN
41 ehlers-danlos syndrome, vascular type 9.9 FBN1 ELN
42 costello syndrome 9.9 FBN1 FBLN5 ELN
43 lymphoid interstitial pneumonia 9.9 TGFB1 FBN1 ELN
44 loeys-dietz syndrome 3 9.9 SLC2A10 FBN1 EFEMP2
45 progeroid syndrome 9.9 PYCR1 FBN1
46 heart valve disease 9.9 TGFB1 FBN1 ELN
47 diaphragmatic hernia, congenital 9.9 FBN1 ELN EFEMP2
48 inguinal hernia 9.9 FBN1 FBLN5 ELN
49 heritable thoracic aortic disease 9.9 LTBP3 FBN1
50 aortic aneurysm, familial abdominal, 1 9.9 FBN1 ELN EFEMP2

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 EFEMP2 FBLN5 FBN1 LTBP1 LTBP2 LTBP4
2 craniofacial MP:0005382 9.63 FBLN5 FBN1 GORAB LTBP1 LTBP3 TGFB1
3 integument MP:0010771 9.61 ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 FBN1 GORAB
4 respiratory system MP:0005388 9.32 EFEMP2 FBLN5 FBN1 GORAB LTBP2 LTBP3

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

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

40
Skin, Eye, Heart

Publications for Autosomal Recessive Cutis Laxa Type I

Articles related to Autosomal Recessive Cutis Laxa Type I:

(show all 16)
# Title Authors PMID Year
1
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 6 61
22829427 2013
2
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 61 6
20389311 2010
3
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 6 61
19664000 2009
4
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 6
27339457 2016
5
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. 6
22943132 2012
6
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 6
18185537 2008
7
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 6
17937443 2007
8
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 6
17035250 2006
9
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 6
16685658 2006
10
Long tortuous aorta in a child with Larsen syndrome. 6
15776121 2005
11
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 6
12189163 2002
12
Clinicopathologic findings in congenital aneurysms of the great vessels. 6
8985490 1996
13
Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia. 6
2038931 1991
14
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. 6
3232707 1988
15
RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION. 61
28726647 2017
16
Generalized acquired cutis laxa type 1: a case report and brief review of literature. 61
27136630 2016

Variations for Autosomal Recessive Cutis Laxa Type I

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

6 (show top 50) (show all 199)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFEMP2 NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) SNV Pathogenic 42041 rs397514683 GRCh37: 11:65637376-65637376
GRCh38: 11:65869905-65869905
2 EFEMP2 NC_000011.10:g.(?_65871960)_(65872944_?)del Deletion Pathogenic 832127 GRCh37: 11:65639431-65640415
GRCh38:
3 EFEMP2 NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) SNV Pathogenic 915377 GRCh37: 11:65638016-65638016
GRCh38: 11:65870545-65870545
4 EFEMP2 NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) SNV Pathogenic 937224 GRCh37: 11:65635879-65635879
GRCh38: 11:65868408-65868408
5 EFEMP2 NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) SNV Pathogenic 948115 GRCh37: 11:65637700-65637700
GRCh38: 11:65870229-65870229
6 EFEMP2 NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) SNV Pathogenic 5423 rs119489101 GRCh37: 11:65638826-65638826
GRCh38: 11:65871355-65871355
7 EFEMP2 NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) SNV Pathogenic 5424 rs119489102 GRCh37: 11:65635993-65635993
GRCh38: 11:65868522-65868522
8 EFEMP2 NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) Duplication Pathogenic 5425 rs193302865 GRCh37: 11:65635428-65635429
GRCh38: 11:65867957-65867958
9 FBLN5 NM_006329.3(FBLN5):c.679T>C (p.Ser227Pro) SNV Pathogenic 5475 rs28939370 GRCh37: 14:92353597-92353597
GRCh38: 14:91887253-91887253
10 FBLN5 NM_006329.3(FBLN5):c.1171G>T (p.Glu391Ter) SNV Pathogenic 21451 rs80338767 GRCh37: 14:92343845-92343845
GRCh38: 14:91877501-91877501
11 FBLN5 NM_006329.3(FBLN5):c.649T>C (p.Cys217Arg) SNV Pathogenic 21454 rs80338766 GRCh37: 14:92353627-92353627
GRCh38: 14:91887283-91887283
12 EFEMP2 NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) SNV Pathogenic 39016 rs193302866 GRCh37: 11:65636028-65636028
GRCh38: 11:65868557-65868557
13 EFEMP2 NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) Duplication Pathogenic 5425 rs193302865 GRCh37: 11:65635428-65635429
GRCh38: 11:65867957-65867958
14 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) SNV Pathogenic 39009 rs193302868 GRCh37: 11:65634532-65634532
GRCh38: 11:65867061-65867061
15 EFEMP2 NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) SNV Pathogenic 5423 rs119489101 GRCh37: 11:65638826-65638826
GRCh38: 11:65871355-65871355
16 EFEMP2 NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) SNV Pathogenic 39012 rs193302869 GRCh37: 11:65638120-65638120
GRCh38: 11:65870649-65870649
17 EFEMP2 NM_016938.5(EFEMP2):c.577del (p.Gln193fs) Deletion Pathogenic 39013 rs193302870 GRCh37: 11:65637622-65637622
GRCh38: 11:65870151-65870151
18 EFEMP2 NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) SNV Pathogenic 39014 rs193302864 GRCh37: 11:65637447-65637447
GRCh38: 11:65869976-65869976
19 EFEMP2 NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) SNV Pathogenic 39016 rs193302866 GRCh37: 11:65636028-65636028
GRCh38: 11:65868557-65868557
20 EFEMP2 NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) SNV Pathogenic 5424 rs119489102 GRCh37: 11:65635993-65635993
GRCh38: 11:65868522-65868522
21 EFEMP2 NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) SNV Pathogenic 39012 rs193302869 GRCh37: 11:65638120-65638120
GRCh38: 11:65870649-65870649
22 EFEMP2 NM_016938.5(EFEMP2):c.577del (p.Gln193fs) Deletion Pathogenic 39013 rs193302870 GRCh37: 11:65637622-65637622
GRCh38: 11:65870151-65870151
23 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) SNV Pathogenic 39009 rs193302868 GRCh37: 11:65634532-65634532
GRCh38: 11:65867061-65867061
24 EFEMP2 NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) SNV Pathogenic 39014 rs193302864 GRCh37: 11:65637447-65637447
GRCh38: 11:65869976-65869976
25 FBLN5 NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) SNV Pathogenic 995864 GRCh37: 14:92343882-92343882
GRCh38: 14:91877538-91877538
26 EFEMP2 NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) SNV Pathogenic 39011 rs193302867 GRCh37: 11:65638121-65638121
GRCh38: 11:65870650-65870650
27 EFEMP2 NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) SNV Pathogenic 39011 rs193302867 GRCh37: 11:65638121-65638121
GRCh38: 11:65870650-65870650
28 FBLN5 NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) SNV Pathogenic 21453 rs80338765 GRCh37: 14:92357580-92357580
GRCh38: 14:91891236-91891236
29 FBLN5 NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs) Deletion Pathogenic 689758 rs1595286986 GRCh37: 14:92336713-92336714
GRCh38: 14:91870369-91870370
30 EFEMP2 NM_016938.5(EFEMP2):c.608-1G>C SNV Pathogenic/Likely pathogenic 575876 rs888015688 GRCh37: 11:65637448-65637448
GRCh38: 11:65869977-65869977
31 EFEMP2 NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) SNV Likely pathogenic 982404 GRCh37: 11:65638118-65638118
GRCh38: 11:65870647-65870647
32 EFEMP2 NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) Duplication Likely pathogenic 540023 rs1555042727 GRCh37: 11:65635391-65635392
GRCh38: 11:65867920-65867921
33 EFEMP2 NM_016938.5(EFEMP2):c.109_111+3del Deletion Likely pathogenic 942885 GRCh37: 11:65639712-65639717
GRCh38: 11:65872241-65872246
34 EFEMP2 NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) SNV Conflicting interpretations of pathogenicity 703835 rs746343857 GRCh37: 11:65638632-65638632
GRCh38: 11:65871161-65871161
35 EFEMP2 NM_016938.5(EFEMP2):c.-113C>T SNV Conflicting interpretations of pathogenicity 439639 rs188624478 GRCh37: 11:65640259-65640259
GRCh38: 11:65872788-65872788
36 EFEMP2 NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) SNV Conflicting interpretations of pathogenicity 305386 rs140946753 GRCh37: 11:65639727-65639727
GRCh38: 11:65872256-65872256
37 EFEMP2 NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) SNV Conflicting interpretations of pathogenicity 305379 rs148410446 GRCh37: 11:65635806-65635806
GRCh38: 11:65868335-65868335
38 EFEMP2 NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) SNV Conflicting interpretations of pathogenicity 305380 rs142509316 GRCh37: 11:65635855-65635855
GRCh38: 11:65868384-65868384
39 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) SNV Conflicting interpretations of pathogenicity 305377 rs2234473 GRCh37: 11:65634533-65634533
GRCh38: 11:65867062-65867062
40 EFEMP2 NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) SNV Conflicting interpretations of pathogenicity 390442 rs144320036 GRCh37: 11:65639462-65639462
GRCh38: 11:65871991-65871991
41 EFEMP2 NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) SNV Conflicting interpretations of pathogenicity 305378 rs141868759 GRCh37: 11:65635525-65635525
GRCh38: 11:65868054-65868054
42 EFEMP2 , MUS81 NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp) SNV Uncertain significance 949746 GRCh37: 11:65634442-65634442
GRCh38: 11:65866971-65866971
43 EFEMP2 NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) SNV Uncertain significance 650013 rs149525720 GRCh37: 11:65638736-65638736
GRCh38: 11:65871265-65871265
44 EFEMP2 NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) SNV Uncertain significance 655732 rs113167523 GRCh37: 11:65635794-65635794
GRCh38: 11:65868323-65868323
45 EFEMP2 NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) SNV Uncertain significance 305382 rs766172211 GRCh37: 11:65638100-65638100
GRCh38: 11:65870629-65870629
46 EFEMP2 NM_016938.5(EFEMP2):c.164T>A (p.Val55Asp) SNV Uncertain significance 1052829 GRCh37: 11:65638831-65638831
GRCh38: 11:65871360-65871360
47 EFEMP2 NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln) SNV Uncertain significance 1056034 GRCh37: 11:65639443-65639443
GRCh38: 11:65871972-65871972
48 EFEMP2 NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly) SNV Uncertain significance 1057028 GRCh37: 11:65635868-65635868
GRCh38: 11:65868397-65868397
49 EFEMP2 NM_016938.5(EFEMP2):c.437_439del (p.Ser146del) Deletion Uncertain significance 1059826 GRCh37: 11:65638058-65638060
GRCh38: 11:65870587-65870589
50 overlap with 33 genes NC_000011.9:g.(?_65633902)_(66115026_?)dup Duplication Uncertain significance 644273 GRCh37: 11:65633902-66115026
GRCh38: 11:65866431-66347555

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
2
Show member pathways
13.05 TGFB1 SLC2A10 LTBP4 LTBP3 LTBP2 LTBP1
3
Show member pathways
12.8 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1
4
Show member pathways
12.75 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
5
Show member pathways
12.45 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1
6
Show member pathways
12.26 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
7
Show member pathways
12.15 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1
8
Show member pathways
12.01 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1
9 11.63 TGFB1 LTBP1 FBN1
10 11.46 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1
11
Show member pathways
11.14 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
12
Show member pathways
10.92 PYCR1 ALDH18A1
13 10.9 LTBP2 LTBP1 FBN1
14 10.66 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1 FBN1

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 9.97 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1 FBN1
2 extracellular matrix GO:0031012 9.56 TGFB1 LTBP4 LTBP2 LTBP1 FBN1 FBLN5
3 microfibril GO:0001527 9.46 LTBP4 LTBP1 FBN1 EFEMP2
4 elastic fiber GO:0071953 9.43 FBLN5 ELN EFEMP2
5 collagen-containing extracellular matrix GO:0062023 9.28 TGFB1 LTBP4 LTBP3 LTBP2 LTBP1 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 aortic valve morphogenesis GO:0003180 9.43 TGFB1 ELN
2 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.4 TGFB1 LTBP4
3 cellular response to insulin-like growth factor stimulus GO:1990314 9.37 TGFB1 FBN1
4 L-proline biosynthetic process GO:0055129 9.32 PYCR1 ALDH18A1
5 proline biosynthetic process GO:0006561 9.26 PYCR1 ALDH18A1
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.26 TGFB1 LTBP4 LTBP3 LTBP2
7 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 LTBP1 FBN1
8 elastic fiber assembly GO:0048251 8.92 LTBP4 LTBP3 FBLN5 EFEMP2

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 9.8 LTBP4 LTBP3 LTBP2 LTBP1 FBN1 FBLN5
2 heparin binding GO:0008201 9.63 LTBP2 FBN1 EFEMP2
3 integrin binding GO:0005178 9.61 LTBP4 FBN1 FBLN5
4 transforming growth factor beta binding GO:0050431 9.5 LTBP4 LTBP3 LTBP1
5 transforming growth factor beta-activated receptor activity GO:0005024 9.4 LTBP4 LTBP1
6 microfibril binding GO:0050436 9.37 LTBP2 LTBP1
7 extracellular matrix constituent conferring elasticity GO:0030023 9.33 FBN1 FBLN5 ELN
8 growth factor binding GO:0019838 9.26 LTBP4 LTBP3 LTBP2 LTBP1
9 extracellular matrix structural constituent GO:0005201 9.1 LTBP4 LTBP2 LTBP1 FBN1 ELN EFEMP2

Sources for Autosomal Recessive Cutis Laxa Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....