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

OMIM®: ⁵⁷ Autosomal recessive cutis laxa type IIC (ARCL2C) 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 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). (617402) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iic, is also known as autosomal recessive cutis laxa type 2c. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iic is ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1). Affiliated tissues include skin, heart and lung, and related phenotypes are nystagmus and high palate

UniProtKB/Swiss-Prot: ⁷³ 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 ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.

Disease Ontology: ¹¹ An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.

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Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iic

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

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

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

³⁰ (show all 33)

#	Description	HPO Source Accession
1	nystagmus ³⁰	HP:0000639
2	high palate ³⁰	HP:0000218
3	hypertelorism ³⁰	HP:0000316
4	hip dysplasia ³⁰	HP:0001385
5	pes planus ³⁰	HP:0001763
6	short stature ³⁰	HP:0004322
7	low-set ears ³⁰	HP:0000369
8	atrial septal defect ³⁰	HP:0001631
9	pneumothorax ³⁰	HP:0002107
10	joint laxity ³⁰	HP:0001388
11	mitral valve prolapse ³⁰	HP:0001634
12	talipes equinovarus ³⁰	HP:0001762
13	kyphoscoliosis ³⁰	HP:0002751
14	disproportionate tall stature ³⁰	HP:0001519
15	dental crowding ³⁰	HP:0000678
16	laryngomalacia ³⁰	HP:0001601
17	long philtrum ³⁰	HP:0000343
18	pointed chin ³⁰	HP:0000307
19	decreased body weight ³⁰	HP:0004325
20	triangular face ³⁰	HP:0000325
21	right bundle branch block ³⁰	HP:0011712
22	knee flexion contracture ³⁰	HP:0006380
23	hand clenching ³⁰	HP:0001188
24	broad columella ³⁰	HP:0010761
25	tricuspid regurgitation ³⁰	HP:0005180
26	aortic regurgitation ³⁰	HP:0001659
27	broad nasal tip ³⁰	HP:0000455
28	generalized hypotonia ³⁰	HP:0001290
29	entropion ³⁰	HP:0000621
30	bilateral cryptorchidism ³⁰	HP:0008689
31	reduced subcutaneous adipose tissue ³⁰	HP:0003758
32	narrow naris ³⁰	HP:0009933
33	biventricular hypertrophy ³⁰	HP:0200128

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
hypertelorism
entropion

Skeletal Pelvis:
hip dysplasia

Head And Neck Ears:
low-set ears
misfolded helices

Skeletal:
joint laxity

Head And Neck Mouth:
dental crowding
high-arched palate

Head And Neck Face:
long philtrum
prominent nasolabial folds
short forehead
progeroid facies
mask-like triangular face
more

Skeletal Feet:
flat feet
club feet

Growth Weight:
low weight

Muscle Soft Tissue:
sparse subcutaneous fat
marked muscular atrophy
reduced muscular strength

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Respiratory Lung:
bilateral pneumothorax (in early infancy)

Skeletal Skull:
recurrent dislocations of temporomandibular joint

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

Neurologic Central Nervous System:
hypotonia

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
mitral valve prolapse
aortic insufficiency
hypoplastic right ventricle
hypoplastic pulmonary artery
more

Skeletal Spine:
kyphoscoliosis

Respiratory Larynx:
laryngomalacia

Head And Neck Nose:
broad columella
broad nasal tip
high nasal root
prominent beaked nose
narrow nostrils

Growth Other:
marfanoid habitus

Skeletal Hands:
ulnar deviation of fingers
clenched hands

Skin Nails Hair Skin:
generalized skin wrinkling

Metabolic Features:
increased trisialotransferrin
abnormal transferrin isoelectric focusing pattern
decreased tetrasialotransferrin
increased disialotransferrin

Genitourinary External Genitalia Male:
inguinal hernias, bilateral

Skeletal Limbs:
flexion contractures of knees

Clinical features from OMIM®:

617402 (Updated 08-Dec-2022)

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

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Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iic

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

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Cutis Laxa Type 2c ²⁸	ATP6V1E1

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Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iic

Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iic:

MalaCards : Skin, Heart, Lung

ODiseA: Respiratory System-Lung, Respiratory System

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Publications for Cutis Laxa, Autosomal Recessive, Type Iic

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

#	Title	Authors	PMID	Year
1	Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. ⁵⁷ ⁵	Van Damme T...Wevers RA	28065471	2017
2	Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. ⁵⁷ ⁵	Alazami AM...Alkuraya FS	27023906	2016

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Genes for Cutis Laxa, Autosomal Recessive, Type Iic

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	1300	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸	27023906 28065471

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Variations for Cutis Laxa, Autosomal Recessive, Type Iic

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

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATP6V1E1	NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)	SNV	Pathogenic	417759	rs1060505031	GRCh37: 22:18082845-18082845 GRCh38: 22:17600079-17600079
2	ATP6V1E1	NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	SNV	Pathogenic	417760	rs1028534806	GRCh37: 22:18075487-18075487 GRCh38: 22:17592721-17592721

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ATP6V1E1	p.Leu128Pro	VAR_078604	rs1060505031
2	ATP6V1E1	p.Arg212Trp	VAR_078605	rs1028534806

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Expression for Cutis Laxa, Autosomal Recessive, Type Iic

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

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Pathways for Cutis Laxa, Autosomal Recessive, Type Iic

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GO Terms for Cutis Laxa, Autosomal Recessive, Type Iic

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⁵⁷ OMIM® (Updated 08-Dec-2022)

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ARCL2C MCID: CTS044 MIFTS: 25	Cutis Laxa, Autosomal Recessive, Type Iic (ARCL2C) 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]
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Cutis Laxa, Autosomal Recessive, Type Iic (ARCL2C)

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

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

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Cutis Laxa, Autosomal Recessive, Type Iic

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iic

Diseases in the Cutis Laxa family:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iic

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

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iic

Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iic:

Publications for Cutis Laxa, Autosomal Recessive, Type Iic

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

Genes for Cutis Laxa, Autosomal Recessive, Type Iic

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

Variations for Cutis Laxa, Autosomal Recessive, Type Iic

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

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

Expression for Cutis Laxa, Autosomal Recessive, Type Iic

Pathways for Cutis Laxa, Autosomal Recessive, Type Iic

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iic

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