ARCL2D
MCID: CTS043
MIFTS: 39

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, Respiratory diseases, Skin diseases
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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 57 73 38
Arcl2d 57 11 73
Autosomal Recessive Cutis Laxa Type Iid 11 14
Autosomal Recessive Cutis Laxa Type 2d 28 5
Cutis Laxa, Autosomal Recessive, 2d 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on 3 patients (last curated march 2017)
variable cardiac and skeletal features may be present


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iid

OMIM®: 57 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) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iid, also known as arcl2d, is related to cutis laxa, autosomal recessive, type ia and cutis laxa, autosomal dominant 1. 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 Receptor Tyrosine Kinases and Insulin receptor signalling cascade. Affiliated tissues include skin, cortex and heart, and related phenotypes are seizure and failure to thrive

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 ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.

Disease Ontology: 11 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.

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iid

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

Diseases related to Cutis Laxa, Autosomal Recessive, Type Iid via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 9.8 ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal dominant 1 9.8 ATP6V0A2 ALDH18A1
3 congenital disorder of glycosylation, type in 9.6 GORAB ATP6V0A2
4 wrinkly skin syndrome 9.6 GORAB ATP6V0A2 ALDH18A1
5 cutis laxa, autosomal dominant 3 9.5 PI4K2A ATP6V1E1 ALDH18A1
6 immunodeficiency 47 9.5 ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
7 autosomal recessive cutis laxa type i 9.4 RIN2 GORAB ATP6V0A2 ALDH18A1
8 autosomal recessive cutis laxa type iii 9.4 RIN2 GORAB ATP6V0A2 ALDH18A1
9 cutis laxa, autosomal recessive, type iiib 9.4 RIN2 GORAB ATP6V0A2 ALDH18A1
10 cutis laxa, autosomal recessive, type iiia 9.4 RIN2 GORAB ATP6V0A2 ALDH18A1
11 cutis laxa, autosomal recessive, type ic 9.3 RIN2 GORAB ATP6V0A2 ALDH18A1
12 cutis laxa, autosomal recessive, type ib 9.3 RIN2 GORAB ATP6V0A2 ALDH18A1
13 occipital horn syndrome 9.3 RIN2 GORAB ATP6V0A2 ALDH18A1
14 cutis laxa, autosomal recessive, type iib 9.2 RIN2 GORAB ATP6V1E1 ATP6V0A2 ALDH18A1
15 cutis laxa, autosomal recessive, type iia 9.0 RIN2 GORAB ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
16 cutis laxa 9.0 RIN2 GORAB ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
17 geroderma osteodysplasticum 9.0 RIN2 GORAB ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
18 autosomal recessive cutis laxa type ii classic type 8.6 RIN2 PI4K2A GORAB ATP6V1E1 ATP6V1A ATP6V0A2

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Recessive, Type Iid:



Diseases related to 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:

30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 HP:0001250
2 failure to thrive 30 HP:0001508
3 cataract 30 HP:0000518
4 inguinal hernia 30 HP:0000023
5 hypertelorism 30 HP:0000316
6 macrotia 30 HP:0000400
7 wide nasal bridge 30 HP:0000431
8 delayed speech and language development 30 HP:0000750
9 congestive heart failure 30 HP:0001635
10 retrognathia 30 HP:0000278
11 low-set ears 30 HP:0000369
12 atrial septal defect 30 HP:0001631
13 hypertrophic cardiomyopathy 30 HP:0001639
14 mask-like facies 30 HP:0000298
15 motor delay 30 HP:0001270
16 talipes equinovarus 30 HP:0001762
17 disproportionate tall stature 30 HP:0001519
18 downslanted palpebral fissures 30 HP:0000494
19 micropenis 30 HP:0000054
20 protruding ear 30 HP:0000411
21 hip dislocation 30 HP:0002827
22 bulbous nose 30 HP:0000414
23 blepharophimosis 30 HP:0000581
24 triangular face 30 HP:0000325
25 right bundle branch block 30 HP:0011712
26 generalized hypotonia 30 HP:0001290
27 hypoplasia of the corpus callosum 30 HP:0002079
28 camptodactyly 30 HP:0012385
29 entropion 30 HP:0000621
30 bilateral cryptorchidism 30 HP:0008689
31 gliosis 30 HP:0002171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
marfanoid habitus

Genitourinary External Genitalia Male:
inguinal hernia
micropenis

Head And Neck Ears:
low-set ears
large ears
prominent ears
simple folded helices

Head And Neck Face:
mask-like facies
triangular face
receding chin
short forehead
progeroid facies

Skeletal Hands:
camptodactyly

Skeletal Feet:
club feet

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

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

Neurologic Central Nervous System:
hypotonia
motor delay
thin corpus callosum
seizures
speech delay
more
Head And Neck Eyes:
hypertelorism
blepharophimosis
entropion
downslanting palpebral fissures
bilateral cataract

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

Muscle Soft Tissue:
abnormal fat distribution

Skeletal:
flexion contractures of all joints

Clinical features from OMIM®:

617403 (Updated 08-Dec-2022)

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 Autosomal Recessive Cutis Laxa Type 2d 28 ATP6V1A

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iid

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

MalaCards : Skin, Cortex, Heart

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. 57 5
28065471 2017
2
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. 57 5
24459010 2014
3
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. 62
33320377 2021

Variations for Cutis Laxa, Autosomal Recessive, Type Iid

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V1A NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp) SNV Pathogenic
417773 rs1060505037 GRCh37: 3:113503074-113503074
GRCh38: 3:113784227-113784227
2 ATP6V1A NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) SNV Pathogenic
417772 rs1060505036 GRCh37: 3:113513742-113513742
GRCh38: 3:113794895-113794895
3 ATP6V1A NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu) SNV Uncertain Significance
930734 rs1709239976 GRCh37: 3:113522466-113522466
GRCh38: 3:113803619-113803619
4 ATP6V1A NM_001690.4(ATP6V1A):c.1227-6A>G SNV Uncertain Significance
931142 rs1709148623 GRCh37: 3:113514717-113514717
GRCh38: 3:113795870-113795870

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 rs1060505037
2 ATP6V1A p.Arg338Cys VAR_078607 rs1060505036

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

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 lysosomal membrane GO:0005765 9.86 PI4K2A ATP6V1E1 ATP6V1A ATP6V0A2
2 microvillus GO:0005902 9.73 ATP6V1E1 ATP6V1A
3 clathrin-coated vesicle membrane GO:0030665 9.71 ATP6V1E1 ATP6V1A
4 proton-transporting V-type ATPase complex GO:0033176 9.62 ATP6V1A ATP6V0A2
5 vacuolar proton-transporting V-type ATPase, V1 domain GO:0000221 9.46 ATP6V1E1 ATP6V1A
6 ATPase complex GO:1904949 9.37 ATP6V1A ATP6V0A2
7 transmembrane transporter complex GO:1902495 8.96 ATP6V1A ATP6V0A2
8 proton-transporting two-sector ATPase complex GO:0016469 8.92 ATP6V1E1 ATP6V1A

Biological processes related to Cutis Laxa, Autosomal Recessive, Type Iid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.8 ATP6V1E1 ATP6V1A ATP6V0A2
2 cellular iron ion homeostasis GO:0006879 9.71 ATP6V1A ATP6V0A2
3 vacuolar acidification GO:0007035 9.67 ATP6V1A ATP6V0A2
4 Golgi lumen acidification GO:0061795 9.56 ATP6V1A ATP6V0A2
5 cellular response to increased oxygen levels GO:0036295 9.26 ATP6V1A ATP6V0A2
6 synaptic vesicle lumen acidification GO:0097401 9.16 ATP6V1E1 ATP6V1A
7 regulation of macroautophagy GO:0016241 9.1 ATP6V1E1 ATP6V1A ATP6V0A2

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Iid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.1 ATP6V1E1 ATP6V1A ATP6V0A2

Sources for Cutis Laxa, Autosomal Recessive, Type Iid

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
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