ARCL2A
MCID: CTS038
MIFTS: 35

Cutis Laxa, Autosomal Recessive, Type Iia (ARCL2A)

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 Iia

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

Name: Cutis Laxa, Autosomal Recessive, Type Iia 58 13 41 74
Cutis Laxa with Joint Laxity and Retarded Development 58 77 76
Arcl2a 58 12 76
Cutis Laxa with Congenital Disorder of Glycosylation 58 76
Cutis Laxa with Growth and Developmental Delay 58 76
Autosomal Recessive Cutis Laxa Type Iia 12 15
Cutis Laxa with Bone Dystrophy 58 76
Cutis Laxa, Debre Type 58 76
Arcl2 58 76
Cutis Laxa Autosomal Recessive Type Iia 76
Cutis Laxa, Autosomal Recessive, 2a 76
Cl Type Iia 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
skin abnormalities tend to decrease with age


HPO:

33
cutis laxa, autosomal recessive, type iia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iia

OMIM : 58 Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (219200)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iia, also known as cutis laxa with joint laxity and retarded development, is related to atp6v0a2-related cutis laxa and autosomal recessive cutis laxa type ii classic type, and has symptoms including seizures An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iia is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways is PI3K-Akt signaling pathway. Affiliated tissues include skin, bone and eye, and related phenotypes are malar flattening and low-set ears

Disease Ontology : 12 An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

UniProtKB/Swiss-Prot : 76 Cutis laxa, autosomal recessive, 2A: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.

Wikipedia : 77 De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose... more...

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iia

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



Diseases related to Cutis Laxa, Autosomal Recessive, Type Iia

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

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

33 (show all 38)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 low-set ears 33 HP:0000369
3 frontal bossing 33 HP:0002007
4 high palate 33 HP:0000218
5 intellectual disability 33 HP:0001249
6 seizures 33 HP:0001250
7 muscular hypotonia 33 HP:0001252
8 failure to thrive 33 HP:0001508
9 scoliosis 33 HP:0002650
10 inguinal hernia 33 HP:0000023
11 carious teeth 33 HP:0000670
12 pes planus 33 HP:0001763
13 short nose 33 HP:0003196
14 microcephaly 33 HP:0000252
15 anteverted nares 33 HP:0000463
16 coarse hair 33 HP:0002208
17 feeding difficulties in infancy 33 HP:0008872
18 long philtrum 33 HP:0000343
19 strabismus 33 HP:0000486
20 flat face 33 HP:0012368
21 intrauterine growth retardation 33 HP:0001511
22 myopia 33 HP:0000545
23 lipodystrophy 33 HP:0009125
24 motor delay 33 HP:0001270
25 congenital hip dislocation 33 HP:0001374
26 joint hypermobility 33 HP:0001382
27 downslanted palpebral fissures 33 HP:0000494
28 narrow mouth 33 HP:0000160
29 redundant skin 33 HP:0001582
30 midface retrusion 33 HP:0011800
31 wide anterior fontanel 33 HP:0000260
32 pachygyria 33 HP:0001302
33 polymicrogyria 33 HP:0002126
34 dandy-walker malformation 33 HP:0001305
35 generalized hypotonia 33 HP:0001290
36 brittle hair 33 HP:0002299
37 cutis laxa 33 HP:0000973
38 abnormal isoelectric focusing of serum transferrin 33 HP:0003160

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
flat face
midface hypoplasia

Muscle Soft Tissue:
lipodystrophy
hypotonia
abnormal distribution of subcutaneous fat

Skin Nails Hair Skin:
cutis laxa
loose redundant skin
excessive skin folds

Head And Neck Mouth:
high-arched palate
small mouth

Skeletal:
joint hyperextensibility

Abdomen Gastrointestinal:
feeding problems in infancy

Neurologic Central Nervous System:
seizures
polymicrogyria
dandy-walker malformation
hypotonia
delayed motor development
more
Head And Neck Nose:
short nose
anteverted nares

Skin Nails Hair Hair:
coarse hair
sparse, brittle hair

Head And Neck Eyes:
strabismus
myopia
downslanting palpebral fissures

Skeletal Pelvis:
congenital hip dislocation

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin
defect in n- and o-glycosylation

Skeletal Skull:
large anterior fontanel
delayed closure of the fontanel

Head And Neck Teeth:
dental caries

Skin Nails Hair Skin Histology:
abnormal, broken, shortened elastic fibers
decreased amount of elastin

Clinical features from OMIM:

219200

UMLS symptoms related to Cutis Laxa, Autosomal Recessive, Type Iia:


seizures

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

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iia

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iia

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iia

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

42
Skin, Bone, Eye, Brain

Publications for Cutis Laxa, Autosomal Recessive, Type Iia

Articles related to Cutis Laxa, Autosomal Recessive, Type Iia:

# Title Authors Year
1
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. ( 24478233 )
2014
2
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. ( 22773132 )
2012
3
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. ( 18157129 )
2008
4
Defective protein glycosylation in patients with cutis laxa syndrome. ( 15657616 )
2005
5
Cutis laxa with growth and developmental delay. ( 11491141 )
2001
6
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. ( 10406678 )
1999

Variations for Cutis Laxa, Autosomal Recessive, Type Iia

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

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2293C> T (p.Gln765Ter) single nucleotide variant Pathogenic rs80356758 GRCh37 Chromosome 12, 124239084: 124239084
2 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2293C> T (p.Gln765Ter) single nucleotide variant Pathogenic rs80356758 GRCh38 Chromosome 12, 123754537: 123754537
3 ATP6V0A2 NM_012463.3(ATP6V0A2): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs80356750 GRCh37 Chromosome 12, 124203239: 124203239
4 ATP6V0A2 NM_012463.3(ATP6V0A2): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs80356750 GRCh38 Chromosome 12, 123718692: 123718692
5 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2356_2362delGGCGTCT (p.Gly786Cysfs) deletion Pathogenic GRCh37 Chromosome 12, 124241424: 124241430
6 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2356_2362delGGCGTCT (p.Gly786Cysfs) deletion Pathogenic GRCh38 Chromosome 12, 123756877: 123756883
7 ATP6V0A2 ATP6V0A2, 1-BP INS, 100A insertion Pathogenic
8 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1514+1G> A single nucleotide variant Pathogenic rs374480381 GRCh37 Chromosome 12, 124229332: 124229332
9 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1514+1G> A single nucleotide variant Pathogenic rs374480381 GRCh38 Chromosome 12, 123744785: 123744785
10 ATP6V0A2 NM_012463.3(ATP6V0A2): c.825+2T> C single nucleotide variant Pathogenic rs398124257 GRCh37 Chromosome 12, 124220173: 124220173
11 ATP6V0A2 NM_012463.3(ATP6V0A2): c.825+2T> C single nucleotide variant Pathogenic rs398124257 GRCh38 Chromosome 12, 123735626: 123735626
12 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs745590426 GRCh37 Chromosome 12, 124197190: 124197190
13 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs745590426 GRCh38 Chromosome 12, 123712643: 123712643
14 ATP6V0A2 NM_012463.3(ATP6V0A2): c.309G> T (p.Lys103Asn) single nucleotide variant Uncertain significance rs144499089 GRCh37 Chromosome 12, 124209215: 124209215
15 ATP6V0A2 NM_012463.3(ATP6V0A2): c.309G> T (p.Lys103Asn) single nucleotide variant Uncertain significance rs144499089 GRCh38 Chromosome 12, 123724668: 123724668
16 ATP6V0A2 NM_012463.3(ATP6V0A2): c.614C> T (p.Ala205Val) single nucleotide variant Uncertain significance rs143802431 GRCh37 Chromosome 12, 124212422: 124212422
17 ATP6V0A2 NM_012463.3(ATP6V0A2): c.614C> T (p.Ala205Val) single nucleotide variant Uncertain significance rs143802431 GRCh38 Chromosome 12, 123727875: 123727875
18 ATP6V0A2 NM_012463.3(ATP6V0A2): c.422G> T (p.Arg141Leu) single nucleotide variant Uncertain significance rs143509747 GRCh37 Chromosome 12, 124209328: 124209328
19 ATP6V0A2 NM_012463.3(ATP6V0A2): c.422G> T (p.Arg141Leu) single nucleotide variant Uncertain significance rs143509747 GRCh38 Chromosome 12, 123724781: 123724781
20 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1018C> T (p.Arg340Trp) single nucleotide variant Uncertain significance rs781305219 GRCh37 Chromosome 12, 124221798: 124221798
21 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1018C> T (p.Arg340Trp) single nucleotide variant Uncertain significance rs781305219 GRCh38 Chromosome 12, 123737251: 123737251
22 ATP6V0A2 NM_012463.3(ATP6V0A2): c.839delC (p.Glu281Argfs) deletion Pathogenic rs80356754 GRCh38 Chromosome 12, 123737072: 123737072
23 ATP6V0A2 NM_012463.3(ATP6V0A2): c.839delC (p.Glu281Argfs) deletion Pathogenic rs80356754 GRCh37 Chromosome 12, 124221619: 124221619
24 ATP6V0A2 NM_012463.3(ATP6V0A2): c.732-2A> G single nucleotide variant Pathogenic rs80356753 GRCh38 Chromosome 12, 123735529: 123735529
25 ATP6V0A2 NM_012463.3(ATP6V0A2): c.732-2A> G single nucleotide variant Pathogenic rs80356753 GRCh37 Chromosome 12, 124220076: 124220076
26 ATP6V0A2 NM_012463.3(ATP6V0A2): c.353_354delTG (p.Leu118Glnfs) deletion Pathogenic rs80356752 GRCh38 Chromosome 12, 123724712: 123724713
27 ATP6V0A2 NM_012463.3(ATP6V0A2): c.353_354delTG (p.Leu118Glnfs) deletion Pathogenic rs80356752 GRCh37 Chromosome 12, 124209259: 124209260
28 ATP6V0A2 NM_012463.3(ATP6V0A2): c.294+1G> A single nucleotide variant Pathogenic rs80356751 GRCh38 Chromosome 12, 123722449: 123722449
29 ATP6V0A2 NM_012463.3(ATP6V0A2): c.294+1G> A single nucleotide variant Pathogenic rs80356751 GRCh37 Chromosome 12, 124206996: 124206996
30 ATP6V0A2 NM_012463.3(ATP6V0A2): c.*115C> T single nucleotide variant Benign rs367543009 GRCh38 Chromosome 12, 123758147: 123758147
31 ATP6V0A2 NM_012463.3(ATP6V0A2): c.*115C> T single nucleotide variant Benign rs367543009 GRCh37 Chromosome 12, 124242694: 124242694
32 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2302G> A (p.Asp768Asn) single nucleotide variant Benign rs367543008 GRCh38 Chromosome 12, 123756823: 123756823
33 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2302G> A (p.Asp768Asn) single nucleotide variant Benign rs367543008 GRCh37 Chromosome 12, 124241370: 124241370
34 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2176-3_2176-2delCA deletion Pathogenic rs367543007 GRCh38 Chromosome 12, 123754417: 123754418
35 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2176-3_2176-2delCA deletion Pathogenic rs367543007 GRCh37 Chromosome 12, 124238964: 124238965
36 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1929delA (p.Gln645Argfs) deletion Pathogenic/Likely pathogenic rs80356756 GRCh38 Chromosome 12, 123748779: 123748779
37 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1929delA (p.Gln645Argfs) deletion Pathogenic/Likely pathogenic rs80356756 GRCh37 Chromosome 12, 124233326: 124233326
38 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1324G> T (p.Glu442Ter) single nucleotide variant Pathogenic rs80356755 GRCh38 Chromosome 12, 123744335: 123744335
39 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1324G> T (p.Glu442Ter) single nucleotide variant Pathogenic rs80356755 GRCh37 Chromosome 12, 124228882: 124228882

Expression for Cutis Laxa, Autosomal Recessive, Type Iia

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iia.

Pathways for Cutis Laxa, Autosomal Recessive, Type Iia

Pathways related to Cutis Laxa, Autosomal Recessive, Type Iia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 ATP6V0A2 VWF

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iia

Sources for Cutis Laxa, Autosomal Recessive, Type Iia

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