ADCL1
MCID: CTS045
MIFTS: 52

Cutis Laxa, Autosomal Dominant 1 (ADCL1)

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 Cutis Laxa, Autosomal Dominant 1

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 1:

Name: Cutis Laxa, Autosomal Dominant 1 57 29 6 70
Cutis Laxa, Autosomal Dominant 57 20 29 6 70
Autosomal Dominant Cutis Laxa 12 20 58 15
Adcl1 57 12 72
Adcl 12 20 58
Autosomal Dominant Cutis Laxa 1 12 15
Cutis Laxa, Autosomal Dominant, Type 1 39
Cutis Laxa, Autosomal Dominant, 1 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant cutis laxa
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
onset of skin manifestations from birth to puberty


HPO:

31
cutis laxa, autosomal dominant 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070130 DOID:0070142
OMIM® 57 123700
OMIM Phenotypic Series 57 PS123700
MeSH 44 D003483
ICD10 32 Q82.8
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0268350
Orphanet 58 ORPHA90348
UMLS 70 C0268350 C3276539

Summaries for Cutis Laxa, Autosomal Dominant 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90348 Definition A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. Epidemiology The prevalence of ADCL is unknown but less than 50 cases have been reported in the literature so far. Clinical description Patients are usually diagnosed at birth or in early childhood due to the presence of excessive skin folds and loose, redundant skin. ADCL is considered to be a mild form of cutis laxa with limited systemic involvement although associated features may include hernias, cardiac valve anomalies (redundant mitral and tricuspid valves), cardiovascular manifestations (pulmonary stenosis and aortic and arterial dilatation and tortuosity), gastrointestinal diverticuli and emphysema. Etiology ADCL is genetically heterogeneous: mutations in the elastin gene ( ELN ; 7q11.1-q21.1) have been reported in some cases, whereas mutations in the gene encoding fibulin-5 ( FBLN5 ; 14q31) have been identified in others. Homozygous mutations in the FBLN5 are associated with the more severe form of CL with extensive systemic involvement, autosomal recessive CL type 1 (ARCL1; see this term). Diagnostic methods Diagnosis is based on clinical examination, family history and pathognomonic histological findings (sparse, fragmented elastic fibers) on skin biopsies. Molecular testing may allow confirmation of the diagnosis. Differential diagnosis The differential diagnosis may include other forms of CL (ARC1 and ARCL2, and X-linked CL) and related syndromes (gerodermia osteodysplastica, wrinkly skin syndrome and De Barsy syndrome), together with the Ehlers-Danlos syndromes, Cantu syndrome and Costello syndrome (see these terms). Genetic counseling Genetic counseling should be provided to affected families and prenatal diagnosis may be feasible for families in which the disease-causing mutation has been identified. Management and treatment There is no specific treatment for cutis laxa. Management should include symptomatic treatment of any associated manifestations. ADCL is generally a mild cutaneous disease and internal organ involvement is rare. Prognosis Most patients have a good prognosis and life expectancy is usually normal.

MalaCards based summary : Cutis Laxa, Autosomal Dominant 1, also known as cutis laxa, autosomal dominant, is related to cutis laxa, autosomal recessive, type ia and cutis laxa, autosomal dominant 3. An important gene associated with Cutis Laxa, Autosomal Dominant 1 is ELN (Elastin), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Biosynthesis of cofactors. Affiliated tissues include skin, eye and heart, and related phenotypes are redundant skin and premature skin wrinkling

Disease Ontology : 12 An autosomal dominant cutis laxa that has material basis in heterozygous mutations in the ELN gene on chromosome 7q11.

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). Autosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by Graul-Neumann et al., 2008). Loose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; 231070) and Costello syndrome (218040). For a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (123700) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Cutis laxa, autosomal dominant, 1: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.

Related Diseases for Cutis Laxa, Autosomal Dominant 1

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 Cutis Laxa, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 31.8 SLC2A10 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
2 cutis laxa, autosomal dominant 3 31.3 MYBPH MTHFS MTHFD2L MTHFD1 GCSH FPGS
3 autosomal recessive cutis laxa type iii 30.6 FBLN5 EFEMP2 ALDH18A1
4 supravalvular aortic stenosis 30.5 FBN1 FBLN5 ELN-AS1 ELN EFEMP2
5 inguinal hernia 30.3 FBN1 FBLN5 ELN
6 cutis laxa 30.1 GGCX FBN1 FBLN5 ELN EFEMP2 ALDH18A1
7 cutis laxa, autosomal dominant 2 29.9 MYBPH MTHFS MTHFD2L MTHFD1 GCSH FPGS
8 acquired cutis laxa 10.4 FBLN5 ELN
9 late-onset focal dermal elastosis 10.4 FBN1 ELN
10 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.4 FBN1 ELN
11 familial abdominal aortic aneurysm 10.3 FBN1 ELN
12 chronic actinic dermatitis 10.3 FBN1 ELN
13 fbln5-related cutis laxa 10.3 FBLN5 ELN EFEMP2
14 cutis laxa, autosomal recessive, type iia 10.3 FBLN5 EFEMP2 ALDH18A1
15 cutis laxa, autosomal recessive, type ic 10.3 FBLN5 EFEMP2 ALDH18A1
16 cutis laxa, autosomal recessive, type iib 10.3 FBLN5 EFEMP2 ALDH18A1
17 mid-dermal elastolysis 10.3 FBN1 FBLN5 ELN
18 cutis laxa, autosomal recessive, type iiib 10.3 EFEMP2 ALDH18A1
19 aortic aneurysm, familial thoracic 2 10.3 SLC2A10 FBN1
20 hemopericardium 10.3 FBN1 ELN
21 phacogenic glaucoma 10.3 FBN1 FBLN5 ELN
22 atypical glycine encephalopathy 10.3 GCSH AMT
23 geroderma osteodysplasticum 10.3 FBLN5 EFEMP2 ALDH18A1
24 pulmonary emphysema 10.3
25 ltbp4-related cutis laxa 10.3
26 meester-loeys syndrome 10.3 SLC2A10 EFEMP2
27 pelvic organ prolapse 10.2 FBN1 FBLN5 ELN
28 pneumothorax 10.2 FBN1 FBLN5 ELN
29 costello syndrome 10.2 FBN1 FBLN5 ELN
30 occipital horn syndrome 10.2 FBLN5 ELN EFEMP2 ALDH18A1
31 bladder diverticulum 10.2 SLC2A10 FBLN5 ELN EFEMP2
32 ureteric orifice cancer 10.2 FBN1 FBLN5 ELN EFEMP2
33 pseudoxanthoma elasticum 10.2 GGCX FBN1 ELN
34 aortic aneurysm, familial thoracic 6 10.1 TGFBR1 SLC2A10 FBN1
35 diaphragmatic hernia, congenital 10.1 FBN1 ELN EFEMP2
36 telangiectasis 10.1 TGFBR1 FBN1 ELN
37 strabismus 10.1
38 williams-beuren syndrome 10.1
39 wrinkly skin syndrome 10.1
40 scoliosis 10.1
41 lung disease 10.1
42 mechanical strabismus 10.1
43 bronchiectasis 10.1
44 7q11.23 duplication syndrome 10.1
45 cutis laxa, autosomal recessive, type ib 10.1 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
46 autosomal recessive cutis laxa type ii classic type 10.1 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
47 subclavian artery aneurysm 10.1 TGFBR2 SLC2A10 FBN1
48 frank-ter haar syndrome 10.1 MTHFS MTHFD1 AMT
49 ectopia lentis 1, isolated, autosomal dominant 10.1 TGFBR2 FBN1
50 pulsating exophthalmos 10.0 TGFBR2 TGFBR1

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Dominant 1:



Diseases related to Cutis Laxa, Autosomal Dominant 1

Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 1

Human phenotypes related to Cutis Laxa, Autosomal Dominant 1:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
2 premature skin wrinkling 58 31 hallmark (90%) Very frequent (99-80%) HP:0100678
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
5 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
6 bowel diverticulosis 58 31 frequent (33%) Frequent (79-30%) HP:0005222
7 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
8 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
9 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
10 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
11 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
12 aortic aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004942
13 prematurely aged appearance 58 31 Frequent (79-30%) HP:0007495
14 hernia 58 Occasional (29-5%)
15 mitral regurgitation 31 HP:0001653
16 abnormality of the face 31 HP:0000271
17 aortic regurgitation 31 HP:0001659
18 cutis laxa 58 Very frequent (99-80%)
19 progeroid facial appearance 31 HP:0005328

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary External Genitalia Male:
inguinal hernia

Skin Nails Hair Skin:
cutis laxa
loose redundant skin
skin lacks elastic recoil
excessive skin folds
no skin hyperelasticity
more
Cardiovascular Heart:
mitral valve regurgitation
aortic valve regurgitation

Respiratory Lung:
emphysema

Head And Neck Face:
premature aged appearance

Skin Nails Hair Skin Histology:
sparse, fragmented elastic fibers

Clinical features from OMIM®:

123700 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cutis Laxa, Autosomal Dominant 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 DHFR EFEMP2 FBLN5 FBN1 GCSH GGCX
2 growth/size/body region MP:0005378 9.97 DHFR DNAJC10 EFEMP2 FBLN5 FBN1 FPGS
3 integument MP:0010771 9.65 ALDH18A1 DHFR EFEMP2 FBLN5 FBN1 GGCX
4 muscle MP:0005369 9.17 DHFR EFEMP2 FBLN5 FBN1 PROS1 TGFBR1

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Autosomal Dominant 1

Genetic Tests for Cutis Laxa, Autosomal Dominant 1

Genetic tests related to Cutis Laxa, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Cutis Laxa, Autosomal Dominant 1 29 ELN
2 Cutis Laxa, Autosomal Dominant 29

Anatomical Context for Cutis Laxa, Autosomal Dominant 1

MalaCards organs/tissues related to Cutis Laxa, Autosomal Dominant 1:

40
Skin, Eye, Heart, Lung

Publications for Cutis Laxa, Autosomal Dominant 1

Articles related to Cutis Laxa, Autosomal Dominant 1:

(show all 24)
# Title Authors PMID Year
1
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 6 57
18348261 2008
2
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 57 6
16085695 2006
3
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 57 6
15955094 2005
4
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 6 57
9873040 1999
5
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. 57 6
9580666 1998
6
Congenital cutis laxa with a dominant inheritance and early onset emphysema. 6 57
8091333 1994
7
The dominant and recessive forms of cutis laxa. 6 57
5046633 1972
8
Cutis laxa: autosomal dominant inheritance in five generations. 57 61
1907230 1991
9
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 6
26297558 2016
10
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 6
26320891 2015
11
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 6
26026163 2015
12
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 6
24913064 2014
13
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 6
21309044 2011
14
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 6
12618961 2003
15
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 6
9643297 1998
16
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 6
9215671 1997
17
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. 6
7884000 1995
18
Heterogeneity of elastin expression in cutis laxa fibroblast strains. 57
2745999 1989
19
Acquired cutis laxa concomitant with nephrotic syndrome. 57
3307640 1987
20
A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. 57
7430706 1980
21
Generalized elastolysis (cutis laxa). 57
707540 1978
22
Cutis hyperelastica (Ehlers-Danlos) and cutis laxa. 57
13973774 1963
23
Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area. 57
13910947 1962
24
Cutis laxa. 57
13748595 1961

Variations for Cutis Laxa, Autosomal Dominant 1

ClinVar genetic disease variations for Cutis Laxa, Autosomal Dominant 1:

6 (show top 50) (show all 222)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBLN5 NM_006329.3(FBLN5):c.380-9061_873dup Duplication Pathogenic 21452 GRCh37: 14:92347752-92370477
GRCh38: 14:91881408-91904133
2 ELN NM_000501.4(ELN):c.1946del (p.Gly649fs) Deletion Pathogenic 16726 GRCh37: 7:73477977-73477977
GRCh38: 7:74063647-74063647
3 ELN ELN, 1-BP DEL, 748A Deletion Pathogenic 16727 GRCh37:
GRCh38:
4 ELN ELN, 1-BP DEL, 2039C Deletion Pathogenic 16728 GRCh37:
GRCh38:
5 ELN ELN, EX9-33DUP Duplication Pathogenic 16734 GRCh37:
GRCh38:
6 ELN ELN, 25-BP DEL, NT2114 Deletion Pathogenic 16735 GRCh37:
GRCh38:
7 ELN ELN, 1-BP DEL, 2159C Deletion Pathogenic 16736 GRCh37:
GRCh38:
8 ELN NM_000501.4:c.1621C>T SNV Pathogenic 16737 GRCh37:
GRCh38:
9 FBLN5 NM_006329.3(FBLN5):c.380-9061_873dup Duplication Pathogenic 21452 GRCh37: 14:92347752-92370477
GRCh38: 14:91881408-91904133
10 ALDH18A1 NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) SNV Pathogenic 217260 rs863225045 GRCh37: 10:97397084-97397084
GRCh38: 10:95637327-95637327
11 ALDH18A1 NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) SNV Pathogenic 217261 rs863225045 GRCh37: 10:97397084-97397084
GRCh38: 10:95637327-95637327
12 ALDH18A1 NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) SNV Pathogenic 217259 rs863225044 GRCh37: 10:97397085-97397085
GRCh38: 10:95637328-95637328
13 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) SNV Pathogenic 217117 rs864321670 GRCh37: 10:97392769-97392769
GRCh38: 10:95633012-95633012
14 ALDH18A1 NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) SNV Pathogenic 217118 rs863224945 GRCh37: 10:97397138-97397138
GRCh38: 10:95637381-95637381
15 FBLN5 NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs) Deletion Pathogenic 689758 rs1595286986 GRCh37: 14:92336713-92336714
GRCh38: 14:91870369-91870370
16 ALDH18A1 NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter) SNV Pathogenic 1029648 GRCh37: 10:97380934-97380934
GRCh38: 10:95621177-95621177
17 FBLN5 NM_006329.4(FBLN5):c.379+1G>C SNV Pathogenic 1032429 GRCh37: 14:92403290-92403290
GRCh38: 14:91936946-91936946
18 ALDH18A1 NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) SNV Likely pathogenic 217115 rs752669339 GRCh37: 10:97370017-97370017
GRCh38: 10:95610260-95610260
19 ALDH18A1 NM_002860.4(ALDH18A1):c.88+1G>A SNV Likely pathogenic 659530 rs556267618 GRCh37: 10:97413046-97413046
GRCh38: 10:95653289-95653289
20 ELN NM_000501.4(ELN):c.1150+1G>A SNV Likely pathogenic 163391 rs727503030 GRCh37: 7:73469100-73469100
GRCh38: 7:74054770-74054770
21 ELN NM_000501.4(ELN):c.2161del (p.Arg721fs) Deletion Likely pathogenic 202174 rs794729201 GRCh37: 7:73483015-73483015
GRCh38: 7:74068685-74068685
22 ELN NM_000501.4(ELN):c.659C>T (p.Pro220Leu) SNV Conflicting interpretations of pathogenicity 213175 rs201012726 GRCh37: 7:73462020-73462020
GRCh38: 7:74047690-74047690
23 ELN NM_000501.4(ELN):c.1096+12TG[18] Microsatellite Uncertain significance 360646 rs10579871 GRCh37: 7:73467651-73467652
GRCh38: 7:74053321-74053322
24 ELN NM_001278918.1(ELN):c.-70G>C SNV Uncertain significance 360633 rs537200597 GRCh37: 7:73442448-73442448
GRCh38: 7:74028118-74028118
25 ELN NM_000501.4(ELN):c.*1062dup Duplication Uncertain significance 360681 rs574934142 GRCh37: 7:73484083-73484084
GRCh38: 7:74069753-74069754
26 ELN NM_000501.4(ELN):c.1096+12TG[22] Microsatellite Uncertain significance 360645 rs10579871 GRCh37: 7:73467650-73467651
GRCh38: 7:74053320-74053321
27 ELN NM_000501.4(ELN):c.1096+12TG[21] Microsatellite Uncertain significance 360644 rs10579871 GRCh37: 7:73467650-73467651
GRCh38: 7:74053320-74053321
28 ELN NM_000501.4(ELN):c.1096+12TG[20] Microsatellite Uncertain significance 360643 rs10579871 GRCh37: 7:73467650-73467651
GRCh38: 7:74053320-74053321
29 ELN NM_000501.4(ELN):c.*1145dup Duplication Uncertain significance 360682 rs886062436 GRCh37: 7:73484166-73484167
GRCh38: 7:74069836-74069837
30 ELN NM_000501.4(ELN):c.*794C>T SNV Uncertain significance 360679 rs185988110 GRCh37: 7:73483824-73483824
GRCh38: 7:74069494-74069494
31 ELN NM_000501.4(ELN):c.*489G>T SNV Uncertain significance 360670 rs886062432 GRCh37: 7:73483519-73483519
GRCh38: 7:74069189-74069189
32 ELN NM_000501.4(ELN):c.*458C>T SNV Uncertain significance 360669 rs886062431 GRCh37: 7:73483488-73483488
GRCh38: 7:74069158-74069158
33 ELN NM_000501.4(ELN):c.*251C>T SNV Uncertain significance 360666 rs886062430 GRCh37: 7:73483281-73483281
GRCh38: 7:74068951-74068951
34 ELN NM_000501.4(ELN):c.*95C>T SNV Uncertain significance 360663 rs181078432 GRCh37: 7:73483125-73483125
GRCh38: 7:74068795-74068795
35 ELN NM_000501.4(ELN):c.*238C>T SNV Uncertain significance 360665 rs546341976 GRCh37: 7:73483268-73483268
GRCh38: 7:74068938-74068938
36 ELN NM_000501.4(ELN):c.*629T>C SNV Uncertain significance 360675 rs776424755 GRCh37: 7:73483659-73483659
GRCh38: 7:74069329-74069329
37 ELN NM_000501.4(ELN):c.*570G>A SNV Uncertain significance 360674 rs565400803 GRCh37: 7:73483600-73483600
GRCh38: 7:74069270-74069270
38 ELN NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) SNV Uncertain significance 360654 rs139335797 GRCh37: 7:73471025-73471025
GRCh38: 7:74056695-74056695
39 ELN NM_000501.4(ELN):c.*997G>T SNV Uncertain significance 360680 rs886062434 GRCh37: 7:73484027-73484027
GRCh38: 7:74069697-74069697
40 ELN NM_000501.4(ELN):c.*663C>T SNV Uncertain significance 360678 rs886062433 GRCh37: 7:73483693-73483693
GRCh38: 7:74069363-74069363
41 ELN NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) SNV Uncertain significance 360660 rs536177240 GRCh37: 7:73477690-73477690
GRCh38: 7:74063360-74063360
42 FBLN5 NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp) SNV Uncertain significance 417872 rs372650987 GRCh37: 14:92343833-92343833
GRCh38: 14:91877489-91877489
43 ELN NM_000501.4(ELN):c.930C>T (p.Ala310=) SNV Uncertain significance 360641 rs147367888 GRCh37: 7:73466294-73466294
GRCh38: 7:74051964-74051964
44 ALDH18A1 NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) SNV Uncertain significance 532701 rs200452017 GRCh37: 10:97376235-97376235
GRCh38: 10:95616478-95616478
45 ALDH18A1 NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly) SNV Uncertain significance 464040 rs1231068982 GRCh37: 10:97373747-97373747
GRCh38: 10:95613990-95613990
46 ALDH18A1 NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) SNV Uncertain significance 464043 rs368147360 GRCh37: 10:97388190-97388190
GRCh38: 10:95628433-95628433
47 ALDH18A1 NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) SNV Uncertain significance 464038 rs142712849 GRCh37: 10:97380991-97380991
GRCh38: 10:95621234-95621234
48 ALDH18A1 NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile) SNV Uncertain significance 464037 rs1346763871 GRCh37: 10:97387262-97387262
GRCh38: 10:95627505-95627505
49 ALDH18A1 NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val) SNV Uncertain significance 464042 rs201428777 GRCh37: 10:97396857-97396857
GRCh38: 10:95637100-95637100
50 ALDH18A1 NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) SNV Uncertain significance 660899 rs200858692 GRCh37: 10:97402883-97402883
GRCh38: 10:95643126-95643126

Expression for Cutis Laxa, Autosomal Dominant 1

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Dominant 1.

Pathways for Cutis Laxa, Autosomal Dominant 1

Pathways related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 MTHFS MTHFD2L MTHFD1 FPGS DHFR
2
Show member pathways
11.58 MTHFD2L MTHFD1 GGCX FPGS DHFR
3 11.52 TGFBR2 TGFBR1 FBN1
4
Show member pathways
11.32 FBN1 FBLN5 ELN EFEMP2
5
Show member pathways
11.25 MTHFS MTHFD2L MTHFD1 FPGS DHFR AMT
6 10.83 TGFBR2 TGFBR1 FBN1
7 10.78 TGFBR2 TGFBR1
8 10.66 TGFBR2 TGFBR1
9 10.58 PROS1 GGCX

GO Terms for Cutis Laxa, Autosomal Dominant 1

Cellular components related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.76 MTHFS MTHFD2L MTHFD1 GCSH FPGS DHFR
2 extracellular matrix GO:0031012 9.62 FBN1 FBLN5 ELN EFEMP2
3 mitochondrial matrix GO:0005759 9.35 MTHFS MTHFD2L GCSH FPGS AMT
4 microfibril GO:0001527 9.26 FBN1 EFEMP2
5 elastic fiber GO:0071953 8.8 FBLN5 ELN EFEMP2

Biological processes related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 TGFBR2 TGFBR1 MTHFD1 FBN1
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.73 TGFBR2 TGFBR1 SLC2A10
3 cellular amino acid biosynthetic process GO:0008652 9.61 MTHFD2L MTHFD1 ALDH18A1
4 purine nucleotide biosynthetic process GO:0006164 9.6 MTHFD2L MTHFD1
5 activin receptor signaling pathway GO:0032924 9.59 TGFBR2 TGFBR1
6 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 TGFBR2 TGFBR1
7 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 TGFBR2 TGFBR1
8 response to cholesterol GO:0070723 9.57 TGFBR2 TGFBR1
9 elastic fiber assembly GO:0048251 9.55 FBLN5 EFEMP2
10 methionine biosynthetic process GO:0009086 9.54 MTHFD2L MTHFD1
11 tetrahydrofolate metabolic process GO:0046653 9.51 MTHFS DHFR
12 regulation of removal of superoxide radicals GO:2000121 9.49 FBLN5 DHFR
13 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.48 TGFBR2 TGFBR1
14 glycine decarboxylation via glycine cleavage system GO:0019464 9.46 GCSH AMT
15 glutamate metabolic process GO:0006536 9.43 MTHFS FPGS ALDH18A1
16 glycine catabolic process GO:0006546 9.4 GCSH AMT
17 folic acid-containing compound biosynthetic process GO:0009396 9.37 MTHFS FPGS
18 tetrahydrofolate interconversion GO:0035999 9.33 MTHFS MTHFD2L MTHFD1
19 histidine biosynthetic process GO:0000105 9.32 MTHFD2L MTHFD1
20 one-carbon metabolic process GO:0006730 9.26 MTHFD2L MTHFD1 FPGS DHFR
21 folic acid metabolic process GO:0046655 9.02 MTHFS MTHFD2L MTHFD1 FPGS DHFR

Molecular functions related to Cutis Laxa, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.88 MTHFD2L MTHFD1 DNAJC10 DHFR ALDH18A1
2 activin binding GO:0048185 9.46 TGFBR2 TGFBR1
3 folic acid binding GO:0005542 9.43 MTHFS DHFR
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 TGFBR2 TGFBR1
5 transforming growth factor beta-activated receptor activity GO:0005024 9.37 TGFBR2 TGFBR1
6 methylenetetrahydrofolate dehydrogenase (NADP+) activity GO:0004488 9.32 MTHFD2L MTHFD1
7 methylenetetrahydrofolate dehydrogenase (NAD+) activity GO:0004487 9.26 MTHFD2L MTHFD1
8 methenyltetrahydrofolate cyclohydrolase activity GO:0004477 9.16 MTHFD2L MTHFD1
9 aminomethyltransferase activity GO:0004047 8.96 GCSH AMT
10 extracellular matrix constituent conferring elasticity GO:0030023 8.8 FBN1 FBLN5 ELN

Sources for Cutis Laxa, Autosomal Dominant 1

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
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