ADCL1
MCID: CTS045
MIFTS: 53

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, 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 56 29 6 71
Cutis Laxa, Autosomal Dominant 56 52 29 6 71
Autosomal Dominant Cutis Laxa 12 52 58 15
Adcl1 56 12 73
Adcl 12 52 58
Autosomal Dominant Cutis Laxa 1 12 15
Cutis Laxa, Autosomal Dominant, Type 1 39
Cutis Laxa, Autosomal Dominant, 1 73

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:

56
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 56 123700
OMIM Phenotypic Series 56 PS123700
MeSH 43 D003483
ICD10 32 Q82.8
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0268350
Orphanet 58 ORPHA90348
UMLS 71 C0268350 C3276539

Summaries for Cutis Laxa, Autosomal Dominant 1

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cutis Laxa, Autosomal Dominant 1, also known as cutis laxa, autosomal dominant, is related to cutis laxa, autosomal dominant 3 and cutis laxa, autosomal recessive, type ia. 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 TGF-beta signaling pathway (KEGG). Affiliated tissues include skin, testes 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 82)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 3 34.3 MTHFS MTHFD2L GCSH AMT ALDH18A1
2 cutis laxa, autosomal recessive, type ia 32.4 SLC2A10 FBN1 FBLN5 EFEMP2 ALDH18A1
3 cutis laxa, autosomal dominant 2 31.7 SRRT MTHFS MTHFD2L GCSH FPGS FBLN5
4 autosomal recessive cutis laxa type iii 30.9 FBLN5 EFEMP2 ALDH18A1
5 supravalvular aortic stenosis 30.7 FBN1 FBLN5 ELN EFEMP2
6 inguinal hernia 30.5 FBN1 FBLN5 ELN
7 cutis laxa 30.3 GGCX FBN1 FBLN5 ELN EFEMP2 ALDH18A1
8 acquired cutis laxa 10.5 FBLN5 ELN
9 fbln5-related cutis laxa 10.5 FBLN5 ELN
10 late-onset focal dermal elastosis 10.5 FBN1 ELN
11 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.5 FBN1 ELN
12 chronic actinic dermatitis 10.5 FBN1 ELN
13 familial abdominal aortic aneurysm 10.5 FBN1 ELN
14 cutis laxa, autosomal recessive, type iiib 10.4 EFEMP2 ALDH18A1
15 cutis laxa, autosomal recessive, type ib 10.4 FBLN5 EFEMP2 ALDH18A1
16 cutis laxa, autosomal recessive, type iia 10.4 FBLN5 EFEMP2 ALDH18A1
17 cavernous sinus meningioma 10.4 FBLN5 DHFR
18 mid-dermal elastolysis 10.4 FBN1 FBLN5 ELN
19 cutis laxa, autosomal recessive, type ic 10.4 FBLN5 EFEMP2 ALDH18A1
20 cutis laxa, autosomal recessive, type iib 10.4 FBLN5 EFEMP2 ALDH18A1
21 aortic aneurysm, familial thoracic 2 10.4 SLC2A10 FBN1
22 bladder diverticulum 10.4 SLC2A10 ELN EFEMP2
23 phacogenic glaucoma 10.4 FBN1 FBLN5 ELN
24 cutis laxa, autosomal recessive, type iiia 10.4 EFEMP2 ALDH18A1
25 geroderma osteodysplasticum 10.4 FBLN5 EFEMP2 ALDH18A1
26 costello syndrome 10.4 FBN1 FBLN5 ELN
27 atypical glycine encephalopathy 10.3 GCSH AMT
28 pseudoxanthoma elasticum 10.3 GGCX FBN1 ELN
29 pneumothorax 10.3 FBN1 FBLN5 ELN
30 occipital horn syndrome 10.3 FBLN5 ELN EFEMP2 ALDH18A1
31 ureteric orifice cancer 10.3 FBN1 FBLN5 ELN EFEMP2
32 pulmonary emphysema 10.3
33 ltbp4-related cutis laxa 10.3
34 aortic aneurysm, familial thoracic 6 10.3 TGFBR1 SLC2A10
35 telangiectasis 10.2 TGFBR1 FBN1 ELN
36 ectopia lentis 1, isolated, autosomal dominant 10.2 TGFBR2 FBN1
37 autosomal recessive cutis laxa type ii classic type 10.2 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
38 pelvic organ prolapse 10.2 MYBPH FBN1 FBLN5 ELN
39 ectopia lentis 2, isolated, autosomal recessive 10.2 TGFBR2 FBN1
40 strabismus 10.1
41 williams-beuren syndrome 10.1
42 wrinkly skin syndrome 10.1
43 scoliosis 10.1
44 lung disease 10.1
45 mechanical strabismus 10.1
46 bronchiectasis 10.1
47 7q11.23 duplication syndrome 10.1
48 atp6v0a2-related cutis laxa 10.1
49 efemp2-related cutis laxa 10.1
50 transient hypogammaglobulinemia of infancy 10.1 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 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
10 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
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:

56
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.8 SRRT
2 Decreased viability GR00107-A-1 9.8 TGFBR2
3 Decreased viability GR00221-A-1 9.8 TGFBR1 TGFBR2
4 Decreased viability GR00221-A-3 9.8 TGFBR2
5 Decreased viability GR00221-A-4 9.8 TGFBR1 TGFBR2
6 Decreased viability GR00240-S-1 9.8 GGCX
7 Decreased viability GR00249-S 9.8 DHFR DNAJC10 EFEMP2 FPGS TGFBR1 TGFBR2
8 Decreased viability GR00381-A-1 9.8 DHFR MYBPH
9 Decreased viability GR00386-A-1 9.8 DNAJC10 EFEMP2 ELN GCSH MTHFD1 PROS1
10 Decreased viability GR00402-S-2 9.8 ALDH18A1 EFEMP2 ELN FBLN5 FBN1 TGFBR1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 DHFR EFEMP2 FBLN5 FBN1 GCSH GGCX
2 embryo MP:0005380 9.86 AMT DHFR FBN1 MTHFD1 PROS1 SRRT
3 integument MP:0010771 9.81 ALDH18A1 DHFR EFEMP2 FBLN5 FBN1 MTHFD2L
4 mortality/aging MP:0010768 9.77 ALDH18A1 AMT DHFR EFEMP2 FBN1 GCSH
5 muscle MP:0005369 9.17 DHFR EFEMP2 FBLN5 FBN1 PROS1 TGFBR1

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Feasibility of Implementing a Mental Health Care Program and Home-based Training for Mothers of Children With Autism Spectrum Disorder in an Urban Population in Bangladesh Recruiting NCT03025646

Search 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, Testes, Heart, Lung

Publications for Cutis Laxa, Autosomal Dominant 1

Articles related to Cutis Laxa, Autosomal Dominant 1:

(show all 20)
# Title Authors PMID Year
1
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 6 56
18348261 2008
2
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 6 56
16085695 2006
3
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 6 56
15955094 2005
4
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). 56 6
9873040 1999
5
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. 56 6
9580666 1998
6
Congenital cutis laxa with a dominant inheritance and early onset emphysema. 56 6
8091333 1994
7
The dominant and recessive forms of cutis laxa. 6 56
5046633 1972
8
Cutis laxa: autosomal dominant inheritance in five generations. 61 56
1907230 1991
9
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 6
26320891 2015
10
FBLN5-Related Cutis Laxa 6
20301756 2009
11
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 6
12618961 2003
12
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 6
9643297 1998
13
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. 6
7884000 1995
14
Heterogeneity of elastin expression in cutis laxa fibroblast strains. 56
2745999 1989
15
Acquired cutis laxa concomitant with nephrotic syndrome. 56
3307640 1987
16
A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. 56
7430706 1980
17
Generalized elastolysis (cutis laxa). 56
707540 1978
18
Cutis hyperelastica (Ehlers-Danlos) and cutis laxa. 56
13973774 1963
19
Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area. 56
13910947 1962
20
Cutis laxa. 56
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 118) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ELN ELN, 1621C-TSNV Pathogenic 16737
2 ELN ELN, 1-BP DEL, 2012Gdeletion Pathogenic 16726
3 ELN ELN, 1-BP DEL, 748Adeletion Pathogenic 16727
4 ELN ELN, 1-BP DEL, 2039Cdeletion Pathogenic 16728
5 ELN ELN, EX9-33DUPduplication Pathogenic 16734
6 ELN ELN, 25-BP DEL, NT2114deletion Pathogenic 16735
7 FBLN5 NM_006329.3(FBLN5):c.380-9061_873dupduplication Pathogenic 21452 14:92347752-92370477 14:91881408-91904133
8 ELN ELN, 1-BP DEL, 2159Cdeletion Pathogenic 16736
9 ELN NM_000501.4(ELN):c.1150+1G>ASNV Pathogenic/Likely pathogenic 163391 rs727503030 7:73469100-73469100 7:74054770-74054770
10 ELN NM_000501.4(ELN):c.2161del (p.Arg721fs)deletion Likely pathogenic 202174 rs794729201 7:73483015-73483015 7:74068685-74068685
11 ELN NM_000501.4(ELN):c.470-10C>GSNV Conflicting interpretations of pathogenicity 283421 rs200663056 7:73459542-73459542 7:74045212-74045212
12 ELN NM_000501.4(ELN):c.328G>A (p.Ala110Thr)SNV Conflicting interpretations of pathogenicity 360636 rs137953195 7:73457316-73457316 7:74042986-74042986
13 ELN NM_000501.4(ELN):c.861G>A (p.Gly287=)SNV Conflicting interpretations of pathogenicity 360638 rs368610108 7:73466141-73466141 7:74051811-74051811
14 ELN NM_000501.4(ELN):c.1281C>T (p.Pro427=)SNV Conflicting interpretations of pathogenicity 360651 rs376496267 7:73470731-73470731 7:74056401-74056401
15 ELN NM_000501.4(ELN):c.853G>A (p.Val285Met)SNV Conflicting interpretations of pathogenicity 912215 7:73466133-73466133 7:74051803-74051803
16 ELN NM_000501.4(ELN):c.710G>C (p.Gly237Ala)SNV Conflicting interpretations of pathogenicity 910986 7:73462496-73462496 7:74048166-74048166
17 ELN NM_000501.4(ELN):c.2131+14C>TSNV Conflicting interpretations of pathogenicity 911185 7:73481120-73481120 7:74066790-74066790
18 ELN NM_000501.4(ELN):c.326G>A (p.Gly109Asp)SNV Conflicting interpretations of pathogenicity 213171 rs145519139 7:73457314-73457314 7:74042984-74042984
19 ELN NM_000501.4(ELN):c.647G>T (p.Gly216Val)SNV Conflicting interpretations of pathogenicity 213192 rs145612009 7:73462008-73462008 7:74047678-74047678
20 ELN NM_000501.4(ELN):c.659C>T (p.Pro220Leu)SNV Conflicting interpretations of pathogenicity 213175 rs201012726 7:73462020-73462020 7:74047690-74047690
21 ELN NM_000501.4(ELN):c.460G>A (p.Val154Met)SNV Conflicting interpretations of pathogenicity 449781 rs145669576 7:73458241-73458241 7:74043911-74043911
22 ELN NM_000501.4(ELN):c.473C>T (p.Ala158Val)SNV Conflicting interpretations of pathogenicity 450301 rs201137255 7:73459555-73459555 7:74045225-74045225
23 ELN NM_000501.4(ELN):c.767C>T (p.Ala256Val)SNV Conflicting interpretations of pathogenicity 572254 rs782285456 7:73462854-73462854 7:74048524-74048524
24 ELN NM_000501.4(ELN):c.478T>C (p.Phe160Leu)SNV Conflicting interpretations of pathogenicity 910090 7:73459560-73459560 7:74045230-74045230
25 ELN NM_000501.4(ELN):c.163+13A>GSNV Conflicting interpretations of pathogenicity 360634 rs782388951 7:73450927-73450927 7:74036597-74036597
26 ELN NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)SNV Conflicting interpretations of pathogenicity 360658 rs200133966 7:73477521-73477521 7:74063191-74063191
27 ELN NM_000501.4(ELN):c.930C>T (p.Ala310=)SNV Conflicting interpretations of pathogenicity 360641 rs147367888 7:73466294-73466294 7:74051964-74051964
28 ELN NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)SNV Conflicting interpretations of pathogenicity 360659 rs150404125 7:73477642-73477642 7:74063312-74063312
29 ELN NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)SNV Conflicting interpretations of pathogenicity 360661 rs369804770 7:73480318-73480318 7:74065988-74065988
30 ELN NM_000501.4(ELN):c.232+3G>ASNV Conflicting interpretations of pathogenicity 385940 rs377172364 7:73455584-73455584 7:74041254-74041254
31 ELN NM_000501.4(ELN):c.*570G>ASNV Uncertain significance 360674 rs565400803 7:73483600-73483600 7:74069270-74069270
32 ELN NM_000501.4(ELN):c.*663C>TSNV Uncertain significance 360678 rs886062433 7:73483693-73483693 7:74069363-74069363
33 ELN NM_000501.4(ELN):c.*1145dupduplication Uncertain significance 360682 rs886062436 7:73484166-73484167 7:74069836-74069837
34 ELN NM_000501.4(ELN):c.*794C>TSNV Uncertain significance 360679 rs185988110 7:73483824-73483824 7:74069494-74069494
35 ELN NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)SNV Uncertain significance 360654 rs139335797 7:73471025-73471025 7:74056695-74056695
36 ELN NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)SNV Uncertain significance 360660 rs536177240 7:73477690-73477690 7:74063360-74063360
37 ELN NM_000501.4(ELN):c.1096+12TG[22]short repeat Uncertain significance 360645 rs10579871 7:73467650-73467651 7:74053320-74053321
38 ELN NM_000501.4(ELN):c.1096+12TG[20]short repeat Uncertain significance 360643 rs10579871 7:73467650-73467651 7:74053320-74053321
39 ELN NM_000501.4(ELN):c.*1062dupduplication Uncertain significance 360681 rs574934142 7:73484083-73484084 7:74069753-74069754
40 ELN NM_001278918.1(ELN):c.-70G>CSNV Uncertain significance 360633 rs537200597 7:73442448-73442448 7:74028118-74028118
41 ELN NM_000501.4(ELN):c.*458C>TSNV Uncertain significance 360669 rs886062431 7:73483488-73483488 7:74069158-74069158
42 ELN NM_000501.4(ELN):c.*629T>CSNV Uncertain significance 360675 rs776424755 7:73483659-73483659 7:74069329-74069329
43 ELN NM_000501.4(ELN):c.*238C>TSNV Uncertain significance 360665 rs546341976 7:73483268-73483268 7:74068938-74068938
44 ELN NM_000501.4(ELN):c.*251C>TSNV Uncertain significance 360666 rs886062430 7:73483281-73483281 7:74068951-74068951
45 ELN NM_000501.4(ELN):c.*997G>TSNV Uncertain significance 360680 rs886062434 7:73484027-73484027 7:74069697-74069697
46 ELN NM_000501.4(ELN):c.1470T>C (p.Gly490=)SNV Uncertain significance 360655 rs576324025 7:73474271-73474271 7:74059941-74059941
47 ELN NM_000501.4(ELN):c.*95C>TSNV Uncertain significance 360663 rs181078432 7:73483125-73483125 7:74068795-74068795
48 ELN NM_000501.4(ELN):c.*489G>TSNV Uncertain significance 360670 rs886062432 7:73483519-73483519 7:74069189-74069189
49 ELN NM_000501.4(ELN):c.1358-199G>ASNV Uncertain significance 585051 rs781963901 7:73471771-73471771 7:74057441-74057441
50 ELN NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)SNV Uncertain significance 667232 7:73474499-73474499 7:74060169-74060169

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
12.26 MTHFS MTHFD2L MTHFD1 FPGS DHFR
2 11.47 TGFBR2 TGFBR1 FBN1
3
Show member pathways
11.25 MTHFS MTHFD2L MTHFD1 FPGS DHFR AMT
4
Show member pathways
11.12 FBN1 FBLN5 ELN EFEMP2
5 10.76 TGFBR2 TGFBR1
6 10.73 TGFBR2 TGFBR1 FBN1
7 10.63 TGFBR2 TGFBR1
8 10.54 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 mitochondrial matrix GO:0005759 9.35 MTHFS MTHFD2L GCSH FPGS AMT
3 elastic fiber GO:0071953 8.62 FBLN5 ELN

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 9.87 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 methionine biosynthetic process GO:0009086 9.55 MTHFD2L MTHFD1
9 response to cholesterol GO:0070723 9.54 TGFBR2 TGFBR1
10 elastic fiber assembly GO:0048251 9.52 FBLN5 EFEMP2
11 tetrahydrofolate metabolic process GO:0046653 9.51 MTHFS DHFR
12 regulation of removal of superoxide radicals GO:2000121 9.49 FBLN5 DHFR
13 glycine decarboxylation via glycine cleavage system GO:0019464 9.48 GCSH AMT
14 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.46 TGFBR2 TGFBR1
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 methenyltetrahydrofolate cyclohydrolase activity GO:0004477 9.26 MTHFD2L MTHFD1
8 methylenetetrahydrofolate dehydrogenase (NAD+) activity GO:0004487 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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