Autosomal Recessive Cutis Laxa Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Autosomal Recessive Cutis Laxa Type I

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type I:

Name: Autosomal Recessive Cutis Laxa Type I ¹¹ ¹⁴

Cutis Laxa, Autosomal Recessive, Type I ⁴³ ⁷¹

Autosomal Recessive Cutis Laxa Type 1 ¹¹ ⁵⁸

Cutis Laxa, Type 1 ¹⁹ ⁵

Autosomal Recessive Cutis Laxa with Severe Systemic Involvement ⁵⁸

Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type ⁵⁸

Cutis Laxa, Autosomal Recessive Type 1 ¹⁹

Cutis Laxa, Autosomal Recessive ¹⁹

Arcl1 ⁵⁸

Characteristics:

Inheritance:

Autosomal Recessive Cutis Laxa Type 1: Autosomal recessive ⁵⁸

Prevelance:

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

Age Of Onset:

Autosomal Recessive Cutis Laxa Type 1: Infancy,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases
Anatomical: Cardiovascular diseases Skin diseases Neuronal diseases Eye diseases Bone diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare skin diseases

Developmental anomalies during embryogenesis

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Summaries for Autosomal Recessive Cutis Laxa Type I

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

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

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

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

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Related Diseases for Autosomal Recessive Cutis Laxa Type I

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib	Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2	Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic	Cutis Laxa, Autosomal Recessive, Type Iid
Cutis Laxa, Autosomal Recessive, Type Iie	Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I	Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa	Eln-Related Cutis Laxa
Fbln5-Related Cutis Laxa	Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

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

(show top 50) (show all 85)

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

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

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Symptoms & Phenotypes for Autosomal Recessive Cutis Laxa Type I

Human phenotypes related to Autosomal Recessive Cutis Laxa Type I:

⁵⁸ ³⁰ (show all 47)

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

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

²⁵

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

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

⁴⁵

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

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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

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Genetic Tests for Autosomal Recessive Cutis Laxa Type I

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Anatomical Context for Autosomal Recessive Cutis Laxa Type I

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

MalaCards : Skin, Lung, Heart

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Publications for Autosomal Recessive Cutis Laxa Type I

Articles related to Autosomal Recessive Cutis Laxa Type I:

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

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Genes for Autosomal Recessive Cutis Laxa Type I

Genes related to Autosomal Recessive Cutis Laxa Type I (3 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FBLN5	Fibulin 5	Protein Coding	366.61	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)	22829427
2	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	358.29	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	16685658 19664000
3	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	355.97	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	33991472
4	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	8.16	DISEASES inferred ¹⁴
5	GORAB	Golgin, RAB6 Interacting	Protein Coding	6.43	DISEASES inferred ¹⁴
6	RIN2	Ras And Rab Interactor 2	Protein Coding	6.33	DISEASES inferred ¹⁴
7	ELN	Elastin	Protein Coding	6.17	DISEASES inferred ¹⁴
8	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	6.06	DISEASES inferred ¹⁴
9	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	6.02	DISEASES inferred ¹⁴
10	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	6	DISEASES inferred ¹⁴
11	FBN1	Fibrillin 1	Protein Coding	5.95	DISEASES inferred ¹⁴
12	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	5.94	DISEASES inferred ¹⁴
13	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	5.94	DISEASES inferred ¹⁴
14	PYCR1	Pyrroline-5-Carboxylate Reductase 1	Protein Coding	5.7	DISEASES inferred ¹⁴
15	FBLN7	Fibulin 7	Protein Coding	5.28	DISEASES inferred ¹⁴
16	LOX	Lysyl Oxidase	Protein Coding	5.15	DISEASES inferred ¹⁴
17	FBLN2	Fibulin 2	Protein Coding	5.08	DISEASES inferred ¹⁴
18	RAB6A	RAB6A, Member RAS Oncogene Family	Protein Coding	5.06	DISEASES inferred ¹⁴
19	FBLN1	Fibulin 1	Protein Coding	5.01	DISEASES inferred ¹⁴

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Variations for Autosomal Recessive Cutis Laxa Type I

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

⁵ (show all 35)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*60dup	DUP	Uncertain Significance	307600	rs747772644	GRCh37: 12:124242636-124242637 GRCh38: 12:123758089-123758090
2	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2984_2986del	DEL	Uncertain Significance	307634	rs886049075	GRCh37: 12:124245561-124245563 GRCh38: 12:123761014-123761016
3	PYCR1	NM_006907.4(PYCR1):c.195_196del	DEL	Uncertain Significance	325899	rs886053570	GRCh37: 17:79890894-79890895 GRCh38: 17:81933018-81933019
4	ALDH18A1	NM_002860.4(ALDH18A1):c.*803del	DEL	Uncertain Significance	301744	rs775267777	GRCh37: 10:97365716-97365716 GRCh38: 10:95605959-95605959
5	PYCR1	NM_006907.4(PYCR1):c.598C>T (p.Arg200Cys)	SNV	Uncertain Significance	325905	rs778823558	GRCh37: 17:79892564-79892564 GRCh38: 17:81934688-81934688
6	ATP6V0A2	NM_012463.4(ATP6V0A2):c.-170C>A	SNV	Uncertain Significance	307574	rs540324717	GRCh37: 12:124196943-124196943 GRCh38: 12:123712396-123712396
7	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2344_2346dup	DUP	Uncertain Significance	307627	rs886049074	GRCh37: 12:124244921-124244922 GRCh38: 12:123760374-123760375
8	ALDH18A1	NM_002860.4(ALDH18A1):c.453+13del	DEL	Uncertain Significance	301776	rs773804418	GRCh37: 10:97397031-97397031 GRCh38: 10:95637274-95637274
9	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2186_2189del	DEL	Uncertain Significance	307625	rs772714418	GRCh37: 12:124244762-124244765 GRCh38: 12:123760215-123760218
10	PYCR1	NM_006907.4(PYCR1):c.*746C>T	SNV	Uncertain Significance	325892	rs886053566	GRCh37: 17:79890344-79890344 GRCh38: 17:81932468-81932468
11	EFEMP2, MUS81	NM_016938.5(EFEMP2):c.*165dup	DUP	Uncertain Significance	305374	rs201135561	GRCh37: 11:65634223-65634224 GRCh38: 11:65866752-65866753
12	ALDH18A1	NM_002860.3(ALDH18A1):c.-162A>G	SNV	Uncertain Significance	301783	rs886047515	GRCh37: 10:97416487-97416487 GRCh38: 10:95656730-95656730
13	ALDH18A1	NM_002860.3(ALDH18A1):c.*829C>T	SNV	Uncertain Significance	301743	rs375868871	GRCh37: 10:97365690-97365690 GRCh38: 10:95605933-95605933
14	ALDH18A1	NM_002860.3(ALDH18A1):c.-223C>G	SNV	Uncertain Significance	301786	rs566221549	GRCh37: 10:97416548-97416548 GRCh38: 10:95656791-95656791
15	EFEMP2	NM_016938.4(EFEMP2):c.-143_-140GGCG[4]	MICROSAT	Uncertain Significance	305389	rs886048508	GRCh37: 11:65640275-65640276 GRCh38: 11:65872804-65872805
16	ALDH18A1	NM_002860.3(ALDH18A1):c.-166T>C	SNV	Uncertain Significance	301784	rs185345785	GRCh37: 10:97416491-97416491 GRCh38: 10:95656734-95656734
17	ATP6V0A2	NM_012463.3(ATP6V0A2):c.-243C>A	SNV	Uncertain Significance	307571	rs886049058	GRCh37: 12:124196870-124196870 GRCh38: 12:123712323-123712323
18	EFEMP2	NM_016938.4(EFEMP2):c.-181G>A	SNV	Uncertain Significance	305390	rs886048509	GRCh37: 11:65640327-65640327 GRCh38: 11:65872856-65872856
19	ALDH18A1	NM_002860.3(ALDH18A1):c.-189T>C	SNV	Uncertain Significance	301785	rs886047516	GRCh37: 10:97416514-97416514 GRCh38: 10:95656757-95656757
20	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	SNV	Uncertain Significance	194862	rs150508296	GRCh37: 12:124239020-124239020 GRCh38: 12:123754473-123754473
21	EFEMP2	NM_016938.4(EFEMP2):c.-229G>C	SNV	Uncertain Significance	305391	rs886048510	GRCh37: 11:65640375-65640375 GRCh38: 11:65872904-65872904
22	ATP6V0A2	NM_012463.3(ATP6V0A2):c.-227A>G	SNV	Likely Benign	307572	rs561163813	GRCh37: 12:124196886-124196886 GRCh38: 12:123712339-123712339
23	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.*45G>A	SNV	Likely Benign	307562	rs142969969	GRCh37: 12:124192305-124192305 GRCh38: 12:123707758-123707758
24	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)	SNV	Likely Benign	126286	rs112158562	GRCh37: 12:124192207-124192207 GRCh38: 12:123707660-123707660
25	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1724+20del	DEL	Likely Benign	307590	rs375845531	GRCh37: 12:124232284-124232284 GRCh38: 12:123747737-123747737
26	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.*412T>C	SNV	Likely Benign	307568	rs112525270	GRCh37: 12:124192672-124192672 GRCh38: 12:123708125-123708125
27	ALDH18A1	NM_002860.4(ALDH18A1):c.-69CG[4]	MICROSAT	Likely Benign	301779	rs200542959	GRCh37: 10:97416390-97416391 GRCh38: 10:95656633-95656634
28	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.*87C>T	SNV	Likely Benign	307563	rs113292231	GRCh37: 12:124192347-124192347 GRCh38: 12:123707800-123707800
29	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2128_2129del	DEL	Likely Benign	307623	rs150303181	GRCh37: 12:124244706-124244707 GRCh38: 12:123760159-123760160
30	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.*67C>T	SNV	Likely Benign	368984	rs112214860	GRCh37: 12:124192327-124192327 GRCh38: 12:123707780-123707780
31	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.*468C>T	SNV	Benign	307569	rs7398298	GRCh37: 12:124192728-124192728 GRCh38: 12:123708181-123708181
32	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.*155G>A	SNV	Benign	307564	rs12811354	GRCh37: 12:124192415-124192415 GRCh38: 12:123707868-123707868
33	ATP6V0A2, TCTN2	NM_024809.5(TCTN2):c.330_331insACTC	INSERT	Benign	307567	rs56918215	GRCh37: 12:124192587-124192588 GRCh38: 12:123708040-123708041
34	TCTN2, ATP6V0A2	NM_012463.4(ATP6V0A2):c.-14C>T	SNV	Benign	95515	rs1139320	GRCh37: 12:124197099-124197099 GRCh38: 12:123712552-123712552
35	TCTN2, ATP6V0A2	NM_012463.3(ATP6V0A2):c.-222C>G	SNV	Benign	307573	rs71458814	GRCh37: 12:124196891-124196891 GRCh38: 12:123712344-123712344

Sources

Expression for Autosomal Recessive Cutis Laxa Type I

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

Sources

Pathways for Autosomal Recessive Cutis Laxa Type I

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.81	LTBP4 LTBP3 LTBP2 LTBP1 FBN1 ELN
2	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.43	LTBP4 LTBP3 LTBP2 LTBP1
3	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.34	LTBP4 LTBP3 LTBP2 LTBP1 LOX FBN1
4	Signaling by TGFB family members ⁶⁶ Show member pathways Antagonism of Activin by Follistatin ⁶⁶ Signaling by Activin ⁶⁶ Signaling by TGF-beta Receptor Complex ⁶⁶ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁶	12.2	LTBP4 LTBP3 LTBP2 LTBP1 FBN1
5	TGF-beta receptor signaling in skeletal dysplasias ⁷⁴ Show member pathways TGF-beta receptor signaling ⁷⁴	11.73	LTBP3 LTBP1 FBN1
6	7q11.23 copy number variation syndrome ⁷⁴	11.55	ELN FBLN2 FBLN5 FBN1
7	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Loss of Function of SMAD2/3 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶ TGF-beta signaling pathway ⁷⁴ TGFBR1 LBD Mutants in Cancer ⁶⁶	11.55	LTBP4 LTBP3 LTBP2 LTBP1 FBN1
8	G-protein signaling_RhoA regulation pathway ²²	11.47	LTBP4 LTBP3 LTBP2 LTBP1
9	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.27	LTBP4 LTBP3 LTBP2 LTBP1 LOX FBN1
10	Cell adhesion_Cell-matrix glycoconjugates ²²	11.22	FBLN2 FBLN1 ELN
11	Hypothesized pathways in pathogenesis of cardiovascular disease ⁷⁴	11.01	LTBP2 LTBP1 FBN1
12	Glutamate and glutamine metabolism ⁶⁶ Show member pathways L-glutamate and L-glutamine biosynthesis ⁶¹ L-ornithine biosynthesis II ⁶¹ L-proline biosynthesis I ⁶¹ ornithine de novo biosynthesis ⁶¹ proline biosynthesis ⁶¹	10.99	PYCR1 ALDH18A1
13	G-protein signaling_Rap2B regulation pathway ²²	10.7	LTBP4 LTBP3 LTBP2 LTBP1 FBN1 ELN

Sources

GO Terms for Autosomal Recessive Cutis Laxa Type I

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

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

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

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

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

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

Sources

Sources for Autosomal Recessive Cutis Laxa Type I

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

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

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

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

⁶³ PubMed Health

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

ARCL1 MCID: ATS393 MIFTS: 46	Autosomal Recessive Cutis Laxa Type I (ARCL1) Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Autosomal Recessive Cutis Laxa Type I (ARCL1)

Aliases & Classifications for Autosomal Recessive Cutis Laxa Type I

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type I:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Autosomal Recessive Cutis Laxa Type I

Related Diseases for Autosomal Recessive Cutis Laxa Type I

Diseases in the Cutis Laxa family:

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

Graphical network of the top 20 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:

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

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

Drugs & Therapeutics for Autosomal Recessive Cutis Laxa Type I

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

Genetic Tests for Autosomal Recessive Cutis Laxa Type I

Anatomical Context for Autosomal Recessive Cutis Laxa Type I

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

Publications for Autosomal Recessive Cutis Laxa Type I

Articles related to Autosomal Recessive Cutis Laxa Type I:

Genes for Autosomal Recessive Cutis Laxa Type I

Genes related to Autosomal Recessive Cutis Laxa Type I (3 elite genes):

Variations for Autosomal Recessive Cutis Laxa Type I

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

Expression 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:

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:

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

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

Sources for Autosomal Recessive Cutis Laxa Type I