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:

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 57 38
Autosomal Recessive Cutis Laxa Type 2c 28 5
Arcl2c 57 73
Cutis Laxa Autosomal Recessive, Type Iic 73
Autosomal Recessive Cutis Laxa Type Iic 11
Cutis Laxa, Autosomal Recessive, 2c 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one kuwaiti and one iranian family with 2 sibs each have been reported (last curated march 2017)
variable congenital heart defects


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iic

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.

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 Frequency Orphanet Frequency 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)

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

Search Clinical Trials, NIH Clinical Center 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:

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

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

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
28065471 2017
2
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 57 5
27023906 2016

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

Expression for Cutis Laxa, Autosomal Recessive, Type Iic

Search GEO for disease gene expression data 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....