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

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:



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.

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iid

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 Frequency 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

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

Search Clinical Trials , NIH Clinical Center 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:

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

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

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
28065471 2017
2
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. 56 6
24459010 2014

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

Expression for Cutis Laxa, Autosomal Recessive, Type Iid

Search GEO for disease gene expression data 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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
2
Show member pathways
13.62 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
3
Show member pathways
13.55 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
4
Show member pathways
13.19 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
5
Show member pathways
13.04 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
6
Show member pathways
12.72 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
7
Show member pathways
12.34 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
8
Show member pathways
12.26 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
9
Show member pathways
12.18 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
10 11.81 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
11
Show member pathways
11.55 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A
12 11.07 ATP6V1H ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1E2 ATP6V1A

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

Sources for Cutis Laxa, Autosomal Recessive, Type Iid

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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