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

ARCL2D MCID: CTS043 MIFTS: 36	Cutis Laxa, Autosomal Recessive, Type Iid (ARCL2D) 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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Iid

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Iid:

Name: Cutis Laxa, Autosomal Recessive, Type Iid ⁵⁶ ⁷³ ²⁹ ⁶

Arcl2d ⁵⁶ ¹² ⁷³

Autosomal Recessive Cutis Laxa Type Iid ¹² ¹⁵

Cutis Laxa, Autosomal Recessive, 2d ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
based on 3 patients (last curated march 2017)
variable cardiac and skeletal features may be present

HPO:

³¹

cutis laxa, autosomal recessive, type iid:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Gastrointestinal 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

External Ids:

Disease Ontology ¹² DOID:0070129

OMIM ⁵⁶ 617403

OMIM Phenotypic Series ⁵⁶ PS123700

MeSH ⁴³ D003483

ICD10 ³² Q82.8

MedGen ⁴¹ C4479409 CN241828

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Summaries for Cutis Laxa, Autosomal Recessive, Type Iid

OMIM : ⁵⁶ Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (617403)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iid, also known as arcl2d, is related to autosomal recessive cutis laxa type ii classic type. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iid is ATP6V1A (ATPase H+ Transporting V1 Subunit A), and among its related pathways/superpathways are Signaling by GPCR and Metabolism. Affiliated tissues include skin, cortex and heart, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : ¹² An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.

UniProtKB/Swiss-Prot : ⁷³ Cutis laxa, autosomal recessive, 2D: A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.

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Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iid

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 Recessive, Type Iid via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	autosomal recessive cutis laxa type ii classic type	9.7	ATP6V1G3 ATP6V1A

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Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Iid

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iid:

³¹ (show all 31)

#	Description	HPO Source Accession
1	hypertelorism ³¹	HP:0000316
2	low-set ears ³¹	HP:0000369
3	seizures ³¹	HP:0001250
4	failure to thrive ³¹	HP:0001508
5	cataract ³¹	HP:0000518
6	inguinal hernia ³¹	HP:0000023
7	macrotia ³¹	HP:0000400
8	wide nasal bridge ³¹	HP:0000431
9	delayed speech and language development ³¹	HP:0000750
10	downslanted palpebral fissures ³¹	HP:0000494
11	hypertrophic cardiomyopathy ³¹	HP:0001639
12	protruding ear ³¹	HP:0000411
13	generalized hypotonia ³¹	HP:0001290
14	retrognathia ³¹	HP:0000278
15	congestive heart failure ³¹	HP:0001635
16	atrial septal defect ³¹	HP:0001631
17	mask-like facies ³¹	HP:0000298
18	motor delay ³¹	HP:0001270
19	talipes equinovarus ³¹	HP:0001762
20	hip dislocation ³¹	HP:0002827
21	micropenis ³¹	HP:0000054
22	disproportionate tall stature ³¹	HP:0001519
23	bulbous nose ³¹	HP:0000414
24	blepharophimosis ³¹	HP:0000581
25	hypoplasia of the corpus callosum ³¹	HP:0002079
26	triangular face ³¹	HP:0000325
27	bilateral cryptorchidism ³¹	HP:0008689
28	camptodactyly ³¹	HP:0012385
29	right bundle branch block ³¹	HP:0011712
30	gliosis ³¹	HP:0002171
31	entropion ³¹	HP:0000621

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
blepharophimosis
entropion
downslanting palpebral fissures
bilateral cataract

Neurologic Central Nervous System:
seizures
motor delay
hypotonia
speech delay
thin corpus callosum
more

Genitourinary External Genitalia Male:
inguinal hernia
micropenis

Head And Neck Face:
mask-like facies
triangular face
receding chin
short forehead
progeroid facies

Skeletal Hands:
camptodactyly

Skeletal Feet:
club feet

Muscle Soft Tissue:
abnormal fat distribution

Skin Nails Hair Skin Electron Microscopy:
reduced elastic fibers
fragmented elastic fibers
loosely packed collagen fibers
variable diameters of collagen fibers

Metabolic Features:
abnormal serum glycosylation

Head And Neck Ears:
low-set ears
large ears
prominent ears
simple folded helices

Growth Other:
failure to thrive
marfanoid habitus

Cardiovascular Heart:
atrial septal defect
cardiac failure
cardiomyopathy, hypertrophic
dilated ascending aorta
tortuous aortic arch
more

Head And Neck Nose:
bulbous nose
broad nasal bridge

Skeletal Pelvis:
dislocated hips

Skin Nails Hair Skin:
generalized skin wrinkling

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Skeletal:
flexion contractures of all joints

Clinical features from OMIM:

617403

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Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Iid

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iid

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Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iid

Genetic tests related to Cutis Laxa, Autosomal Recessive, Type Iid:

#	Genetic test	Affiliating Genes
1	Cutis Laxa, Autosomal Recessive, Type Iid ²⁹	ATP6V1A

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Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iid

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

⁴⁰

Skin, Cortex, Heart, Eye, Bone

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Publications for Cutis Laxa, Autosomal Recessive, Type Iid

Articles related to Cutis Laxa, Autosomal Recessive, Type Iid:

#	Title	Authors	PMID	Year
1	Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ⁵⁶ ⁶	Van Damme T...Wevers RA	28065471	2017
2	A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. ⁵⁶ ⁶	Van Asbeck E...Morava E	24459010	2014

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Genes for Cutis Laxa, Autosomal Recessive, Type Iid

Genes related to Cutis Laxa, Autosomal Recessive, Type Iid (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	1315.17	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	24459010 28065471
2	ATP6V1G3	ATPase H+ Transporting V1 Subunit G3	Protein Coding	6.08	DISEASES inferred ¹⁵
3	ATP6V1E2	ATPase H+ Transporting V1 Subunit E2	Protein Coding	6.05	DISEASES inferred ¹⁵
4	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	5.89	DISEASES inferred ¹⁵
5	DMXL2	Dmx Like 2	Protein Coding	5.84	DISEASES inferred ¹⁵
6	ATP6V1G2	ATPase H+ Transporting V1 Subunit G2	Protein Coding	5.82	DISEASES inferred ¹⁵
7	ATP6V1H	ATPase H+ Transporting V1 Subunit H	Protein Coding	5.68	DISEASES inferred ¹⁵

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Variations for Cutis Laxa, Autosomal Recessive, Type Iid

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP6V1A	NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys)	SNV	Pathogenic	417772	rs1060505036	3:113513742-113513742	3:113794895-113794895
2	ATP6V1A	NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp)	SNV	Pathogenic	417773	rs1060505037	3:113503074-113503074	3:113784227-113784227

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ATP6V1A	p.Gly72Asp	VAR_078606	rs106050503
2	ATP6V1A	p.Arg338Cys	VAR_078607	rs106050503

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Expression for Cutis Laxa, Autosomal Recessive, Type Iid

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

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Pathways for Cutis Laxa, Autosomal Recessive, Type Iid

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

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	13.68	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
2	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.62	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
3	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.55	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
4	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Alzheimer disease ³⁶ Alzheimers Disease ¹ Complex I biogenesis ⁶⁵ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Huntington disease ³⁶ Non-alcoholic fatty liver disease (NAFLD) ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Parkinson disease ³⁶ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	13.19	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
5	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁵ Show member pathways Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	13.04	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
6	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.72	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
7	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12.34	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
8	mTOR signaling pathway (KEGG) ⁶⁴ Show member pathways mTOR signaling pathway ³⁶	12.26	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
9	Insulin receptor recycling ⁶⁵ Show member pathways Collecting duct acid secretion ³⁶ Epithelial cell signaling in Helicobacter pylori infection ³⁶ Iron uptake and transport ⁶⁵ ROS, RNS production in phagocytes ⁶⁵ Transferrin endocytosis and recycling ⁶⁵ Vibrio cholerae infection ³⁶	12.18	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
10	Phagosome ³⁶	11.81	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
11	Synaptic vesicle cycle ³⁶ Show member pathways Synaptic Vesicle Pathway ¹	11.55	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
12	Rheumatoid arthritis ³⁶	11.07	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A

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GO Terms for Cutis Laxa, Autosomal Recessive, Type Iid

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	9.73	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
2	lysosomal membrane	GO:0005765	9.33	ATP6V1H ATP6V1G1 ATP6V1A
3	cell	GO:0005623	9.17	DMXL2 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2
4	vacuolar proton-transporting V-type ATPase complex	GO:0016471	9.13	ATP6V1G3 ATP6V1G2 ATP6V1G1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.88	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
2	ion transmembrane transport	GO:0034220	9.85	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
3	proton transmembrane transport	GO:1902600	9.73	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
4	regulation of macroautophagy	GO:0016241	9.72	ATP6V1H ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
5	insulin receptor signaling pathway	GO:0008286	9.63	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
6	cellular iron ion homeostasis	GO:0006879	9.48	ATP6V1G1 ATP6V1A
7	vacuolar acidification	GO:0007035	9.46	DMXL2 ATP6V1H
8	cellular response to increased oxygen levels	GO:0036295	9.43	ATP6V1G1 ATP6V1A
9	phagosome acidification	GO:0090383	9.43	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
10	transferrin transport	GO:0033572	9.1	ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity	GO:0016887	9.43	ATP6V1H ATP6V1G2 ATP6V1G1
2	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	9.33	ATP6V1G3 ATP6V1G2 ATP6V1G1
3	ATPase binding	GO:0051117	9.32	ATP6V1G3 ATP6V1G1
4	proton-transporting ATPase activity, rotational mechanism	GO:0046961	9.13	ATP6V1H ATP6V1E2 ATP6V1A
5	proton-exporting ATPase activity, phosphorylative mechanism	GO:0008553	8.92	ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cutis Laxa, Autosomal Recessive, Type Iid (ARCL2D)

Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Iid

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Iid:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cutis Laxa, Autosomal Recessive, Type Iid

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iid

Diseases in the Cutis Laxa family:

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

Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Iid

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iid:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Iid

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iid

Genetic tests related to Cutis Laxa, Autosomal Recessive, Type Iid:

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iid

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

Publications for Cutis Laxa, Autosomal Recessive, Type Iid

Articles related to Cutis Laxa, Autosomal Recessive, Type Iid:

Genes for Cutis Laxa, Autosomal Recessive, Type Iid

Genes related to Cutis Laxa, Autosomal Recessive, Type Iid (1 elite genes):

Variations for Cutis Laxa, Autosomal Recessive, Type Iid

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:

Expression for Cutis Laxa, Autosomal Recessive, Type Iid

Pathways for Cutis Laxa, Autosomal Recessive, Type Iid

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

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iid

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

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

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

Sources for Cutis Laxa, Autosomal Recessive, Type Iid