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

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, Skin diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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

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

Name: Cutis Laxa, Autosomal Recessive, Type Iic ⁵⁶ ²⁹ ⁶

Arcl2c ⁵⁶ ⁷³

Cutis Laxa Autosomal Recessive, Type Iic ⁷³

Autosomal Recessive Cutis Laxa Type Iic ¹²

Cutis Laxa, Autosomal Recessive, 2c ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
one kuwaiti and one iranian family with 2 sibs each have been reported (last curated march 2017)
variable congenital heart defects

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Skin diseases Cardiovascular diseases Neuronal diseases Eye 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:0070140

OMIM ⁵⁶ 617402

OMIM Phenotypic Series ⁵⁶ PS123700

MeSH ⁴³ D003483

ICD10 ³² Q82.8

MedGen ⁴¹ C4479387 CN241832

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Summaries for Cutis Laxa, Autosomal Recessive, Type Iic

OMIM : ⁵⁶ 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)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iic, is also known as arcl2c. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iic is ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1). Affiliated tissues include skin and heart, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : ¹² 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.

UniProtKB/Swiss-Prot : ⁷³ Cutis laxa, autosomal recessive, 2C: 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.

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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
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

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

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

³¹ (show all 33)

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
nystagmus
entropion

Skeletal Pelvis:
hip dysplasia

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

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

Skeletal:
joint laxity

Head And Neck Mouth:
dental crowding
high-arched palate

Neurologic Central Nervous System:
hypotonia

Growth Weight:
low weight

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

Respiratory Lung:
bilateral pneumothorax (in early infancy)

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Skeletal Limbs:
flexion contractures of knees

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

Head And Neck Ears:
low-set ears
misfolded helices

Growth Height:
short stature

Respiratory Larynx:
laryngomalacia

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

Skeletal Spine:
kyphoscoliosis

Skeletal Feet:
flat feet
club feet

Growth Other:
marfanoid habitus

Skeletal Hands:
ulnar deviation of fingers
clenched hands

Skin Nails Hair Skin:
generalized skin wrinkling

Genitourinary External Genitalia Male:
inguinal hernias, bilateral

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

Clinical features from OMIM:

617402

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

Search Clinical Trials , NIH Clinical Center 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	Cutis Laxa, Autosomal Recessive, Type Iic ²⁹	ATP6V1E1

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Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iic

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

⁴⁰

Skin, Heart

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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. ⁵⁶ ⁶	Van Damme T...Wevers RA	28065471	2017
2	Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. ⁵⁶ ⁶	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	PubmedIds
1	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	1308.4	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	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:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP6V1E1	NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)	SNV	Pathogenic	417759	rs1060505031	22:18082845-18082845	22:17600079-17600079
2	ATP6V1E1	NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	SNV	Pathogenic	417760	rs1028534806	22:18075487-18075487	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	rs106050503
2	ATP6V1E1	p.Arg212Trp	VAR_078605	rs102853480

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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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Sources for Cutis Laxa, Autosomal Recessive, Type Iic

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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:

OMIM:

HPO:

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

MalaCards 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

Sources for Cutis Laxa, Autosomal Recessive, Type Iic