Cutis Laxa, Autosomal Dominant 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

UniProtKB/Swiss-Prot: ⁷³ 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.

MalaCards based summary: Cutis Laxa, Autosomal Dominant 2, also known as adcl2, is related to cutis laxa and autosomal recessive cutis laxa type iii. An important gene associated with Cutis Laxa, Autosomal Dominant 2 is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One-carbon metabolism and related pathways. Affiliated tissues include skin, and related phenotypes are scoliosis and mitral regurgitation

OMIM®: ⁵⁷ Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700). (614434) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ An autosomal dominant cutis laxa that has material basis in heterozygous mutation in the FBLN5 gene on chromosome 14q32.

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Related Diseases for Cutis Laxa, Autosomal Dominant 2

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 Cutis Laxa, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	cutis laxa	10.1	FBLN5 EFEMP2
2	autosomal recessive cutis laxa type iii	10.1	FBLN5 EFEMP2
3	autosomal recessive cutis laxa type i	10.1	FBLN5 EFEMP2
4	ureteric orifice cancer	10.1	FBLN5 EFEMP2
5	cutis laxa, autosomal recessive, type ia	10.1	FBLN5 EFEMP2
6	bladder diverticulum	10.1	FBLN5 EFEMP2
7	cutis laxa, autosomal recessive, type iia	10.1	FBLN5 EFEMP2
8	cutis laxa, autosomal recessive, type ic	10.1	FBLN5 EFEMP2
9	cutis laxa, autosomal recessive, type iib	10.1	FBLN5 EFEMP2
10	cutis laxa, autosomal recessive, type ib	10.1	FBLN5 EFEMP2
11	ehlers-danlos syndrome, vascular type	10.1	FBLN5 EFEMP2
12	autosomal recessive cutis laxa type ii classic type	10.1	FBLN5 EFEMP2
13	retinal drusen	10.1	FBLN5 EFEMP2
14	wrinkly skin syndrome	10.1	FBLN5 EFEMP2
15	occipital horn syndrome	10.0	FBLN5 EFEMP2
16	arterial tortuosity syndrome	10.0	FBLN5 EFEMP2
17	doyne honeycomb retinal dystrophy	10.0	FBLN5 EFEMP2
18	geroderma osteodysplasticum	10.0	FBLN5 EFEMP2
19	supravalvular aortic stenosis	10.0	FBLN5 EFEMP2
20	inguinal hernia	10.0	FBLN5 EFEMP2
21	frank-ter haar syndrome	10.0	MTHFS AMT
22	loeys-dietz syndrome	9.9	FBLN5 EFEMP2
23	aortic dissection	9.8	FBLN5 EFEMP2
24	cutis laxa, autosomal dominant 3	9.7	MTHFS MTHFD2L AMT
25	glycine encephalopathy	9.7	MTHFD2L AMT
26	cutis laxa, autosomal dominant 1	9.1	MTHFS MTHFD2L FPGS FBLN5 EFEMP2 AMT

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Dominant 2:

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Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 2

Human phenotypes related to Cutis Laxa, Autosomal Dominant 2:

³⁰

#	Description	HPO Source Accession
1	scoliosis ³⁰	HP:0002650
2	mitral regurgitation ³⁰	HP:0001653
3	cutis laxa ³⁰	HP:0000973
4	premature skin wrinkling ³⁰	HP:0100678

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Spine:
scoliosis

Cardiovascular Heart:
mitral valve regurgitation

Skin Nails Hair Skin:
hyperextensible skin
redundant skin (present at birth, improves over time)
skin folds (present on abdomen and arms)
wrinkled skin (present on backs of hands and wrists)

Abdomen External Features:
extensive folding and redundant skin (present at birth)

Clinical features from OMIM®:

614434 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance	GR00297-A	8.8	AMT FPGS MTHFS

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Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 2

Search Clinical Trials, NIH Clinical Center for Cutis Laxa, Autosomal Dominant 2

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Genetic Tests for Cutis Laxa, Autosomal Dominant 2

Genetic tests related to Cutis Laxa, Autosomal Dominant 2:

#	Genetic test	Affiliating Genes
1	Cutis Laxa, Autosomal Dominant 2 ²⁸	FBLN5

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Anatomical Context for Cutis Laxa, Autosomal Dominant 2

Organs/tissues related to Cutis Laxa, Autosomal Dominant 2:

MalaCards : Skin

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Publications for Cutis Laxa, Autosomal Dominant 2

Articles related to Cutis Laxa, Autosomal Dominant 2:

#	Title	Authors	PMID	Year
1	Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. ⁵⁷ ⁵	Markova D...Chu ML	12618961	2003
2	A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. ⁶²	Duz MB...Seven M	28383366	2017

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Genes for Cutis Laxa, Autosomal Dominant 2

Genes related to Cutis Laxa, Autosomal Dominant 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FBLN5	Fibulin 5	Protein Coding	1063.88	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	12618961
2	FPGS	Folylpolyglutamate Synthase	Protein Coding	5.56	DISEASES inferred ¹⁴
3	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	5.26	DISEASES inferred ¹⁴
4	MTHFS	Methenyltetrahydrofolate Synthetase	Protein Coding	4.97	DISEASES inferred ¹⁴
5	CFAP221	Cilia And Flagella Associated Protein 221	Protein Coding	4.93	DISEASES inferred ¹⁴
6	MTHFD2L	Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2 Like	Protein Coding	4.66	DISEASES inferred ¹⁴
7	TM4SF4	Transmembrane 4 L Six Family Member 4	Protein Coding	4.65	DISEASES inferred ¹⁴
8	AMT	Aminomethyltransferase	Protein Coding	4.63	DISEASES inferred ¹⁴

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Variations for Cutis Laxa, Autosomal Dominant 2

ClinVar genetic disease variations for Cutis Laxa, Autosomal Dominant 2:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FBLN5	NM_006329.3(FBLN5):c.380-9061_873dup	DUP	Pathogenic	21452		GRCh37: 14:92347752-92370477 GRCh38: 14:91881408-91904133
2	FBLN5	NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	DEL	Pathogenic	689758	rs1595286986	GRCh37: 14:92336713-92336714 GRCh38: 14:91870369-91870370
3	FBLN5	NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile)	SNV	Uncertain Significance	1030095	rs141200859	GRCh37: 14:92403527-92403527 GRCh38: 14:91937183-91937183
4	FBLN5	NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)	SNV	Uncertain Significance	417872	rs372650987	GRCh37: 14:92343833-92343833 GRCh38: 14:91877489-91877489
5	FBLN5	NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val)	SNV	Uncertain Significance	930246	rs1889226797	GRCh37: 14:92343886-92343886 GRCh38: 14:91877542-91877542
6	FBLN5	NM_006329.4(FBLN5):c.739+14G>A	SNV	Uncertain Significance	930569	rs1390709680	GRCh37: 14:92353523-92353523 GRCh38: 14:91887179-91887179
7	FBLN5	NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu)	SNV	Uncertain Significance	1032428	rs1453600644	GRCh37: 14:92336608-92336608 GRCh38: 14:91870264-91870264
8	FBLN5	NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	SNV	Benign	163450	rs2430347	GRCh37: 14:92347680-92347680 GRCh38: 14:91881336-91881336
9	FBLN5	NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile)	SNV	Benign	983055	rs1890163941	GRCh37: 14:92361374-92361374 GRCh38: 14:91895030-91895030
10	FBLN5	NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	SNV	Not Provided	218359	rs144288844	GRCh37: 14:92403402-92403402 GRCh38: 14:91937058-91937058

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Expression for Cutis Laxa, Autosomal Dominant 2

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Dominant 2.

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Pathways for Cutis Laxa, Autosomal Dominant 2

Pathways related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of water-soluble vitamins and cofactors ⁶⁶ Show member pathways Biotin metabolism, including IMDs ⁷⁴ Biotin transport and metabolism ⁶⁶ Coenzyme A biosynthesis ⁶⁶ Defective BTD causes biotidinase deficiency ⁶⁶ Defective HLCS causes multiple carboxylase deficiency ⁶⁶ Defects in biotin (Btn) metabolism ⁶⁶ Metabolism of cofactors ⁶⁶ Metabolism of folate and pterines ⁶⁶ Metabolism of vitamins and cofactors ⁶⁶ molybdenum cofactor biosynthesis ⁶¹ Molybdenum cofactor biosynthesis ⁶⁶ Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation ⁶⁶ thiamin salvage III ⁶¹ Ubiquinol biosynthesis ⁶⁶ Vitamin B1 (thiamin) metabolism ⁶⁶ Vitamin B2 (riboflavin) metabolism ⁶⁶ Vitamin B5 (pantothenate) metabolism ⁶⁶ Vitamin C (ascorbate) metabolism ⁶⁶ Vitamins B6 activation to pyridoxal phosphate ⁶⁶	11.8	MTHFS MTHFD2L FPGS
2	One-carbon metabolism and related pathways ⁷⁴ Show member pathways dTMP de novo biosynthesis (mitochondrial) ⁶¹ Trans-sulfuration, one-carbon metabolism and related pathways ⁷⁴	11.34	MTHFD2L AMT
3	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.06	FBLN5 EFEMP2
4	Methotrexate Pathway (Cancer Cell), Pharmacodynamics and Pharmacokinetics ⁶⁰ Show member pathways Antimetabolite Pathway - Folate Cycle, Pharmacodynamics ⁶⁰ One-carbon metabolism ⁷⁴ tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate ⁶¹	10.57	MTHFS FPGS AMT

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GO Terms for Cutis Laxa, Autosomal Dominant 2

Cellular components related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:0005759	9.56	MTHFS MTHFD2L FPGS AMT
2	elastic fiber	GO:0071953	8.92	FBLN5 EFEMP2

Biological processes related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	glutamate metabolic process	GO:0006536	9.62	MTHFS FPGS
2	elastic fiber assembly	GO:0048251	9.56	FBLN5 EFEMP2
3	one-carbon metabolic process	GO:0006730	9.54	MTHFD2L FPGS
4	tetrahydrofolate interconversion	GO:0035999	9.46	MTHFS MTHFD2L
5	folic acid-containing compound biosynthetic process	GO:0009396	9.26	MTHFS FPGS
6	folic acid metabolic process	GO:0046655	9.1	MTHFS MTHFD2L FPGS

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Sources for Cutis Laxa, Autosomal Dominant 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

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⁸ Cosmic

⁹ dbSNP

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¹¹ Disease Ontology

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

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⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ADCL2 MCID: CTS031 MIFTS: 35	Cutis Laxa, Autosomal Dominant 2 (ADCL2) 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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Cutis Laxa, Autosomal Dominant 2 (ADCL2)

Aliases & Classifications for Cutis Laxa, Autosomal Dominant 2

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Cutis Laxa, Autosomal Dominant 2

Related Diseases for Cutis Laxa, Autosomal Dominant 2

Diseases in the Cutis Laxa family:

Diseases related to Cutis Laxa, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Dominant 2:

Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 2

Human phenotypes related to Cutis Laxa, Autosomal Dominant 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 2

Genetic Tests for Cutis Laxa, Autosomal Dominant 2

Genetic tests related to Cutis Laxa, Autosomal Dominant 2:

Anatomical Context for Cutis Laxa, Autosomal Dominant 2

Organs/tissues related to Cutis Laxa, Autosomal Dominant 2:

Publications for Cutis Laxa, Autosomal Dominant 2

Articles related to Cutis Laxa, Autosomal Dominant 2:

Genes for Cutis Laxa, Autosomal Dominant 2

Genes related to Cutis Laxa, Autosomal Dominant 2 (1 elite genes):

Variations for Cutis Laxa, Autosomal Dominant 2

ClinVar genetic disease variations for Cutis Laxa, Autosomal Dominant 2:

Expression for Cutis Laxa, Autosomal Dominant 2

Pathways for Cutis Laxa, Autosomal Dominant 2

Pathways related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

GO Terms for Cutis Laxa, Autosomal Dominant 2

Cellular components related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

Biological processes related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

Sources for Cutis Laxa, Autosomal Dominant 2