ARCL2C
MCID: CTS044
MIFTS: 26

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

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:



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, heart and eye, 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.

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 Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 nystagmus 31 HP:0000639
4 high palate 31 HP:0000218
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

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 Cutis Laxa, Autosomal Recessive, Type Iic 29 ATP6V1E1

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iic

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

40
Skin, Heart, Eye, Bone

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
28065471 2017
2
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 56 6
27023906 2016

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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