ARCL2A
MCID: CTS038
MIFTS: 47

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, Respiratory diseases, Skin diseases
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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 57 5 38 71
Cutis Laxa with Joint Laxity and Retarded Development 57 19 75 73
Arcl2a 57 11 19 73
Cutis Laxa with Growth and Developmental Delay 57 19 73
Cutis Laxa with Bone Dystrophy 57 19 73
Cutis Laxa, Debre Type 57 19 73
Cutis Laxa with Congenital Disorder of Glycosylation 57 73
Autosomal Recessive Cutis Laxa Type Iia 11 14
Arcl2 57 73
Cutis Laxa, Autosomal Recessive Type 2a 19
Cutis Laxa Autosomal Recessive Type Iia 73
Cutis Laxa, Autosomal Recessive, 2a 73
Cl Type Iia 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
skin abnormalities tend to decrease with age


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iia

OMIM®: 57 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) (Updated 24-Oct-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iia, also known as cutis laxa with joint laxity and retarded development, is related to cutis laxa, autosomal recessive, type ia and ehlers-danlos syndrome, 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 are Ion channel transport and Insulin receptor recycling. Affiliated tissues include skin, bone and brain, and related phenotypes are intellectual disability and failure to thrive

GARD: 19 A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Wikipedia: 75 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

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 Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type ia 30.6 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
2 ehlers-danlos syndrome 29.7 MIA2 FBLN5 EFEMP2
3 inguinal hernia 29.6 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2
4 wrinkly skin syndrome 29.5 PYCR1 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
5 cutis laxa, autosomal recessive, type iib 29.5 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
6 autosomal recessive cutis laxa type ii classic type 28.7 RIN2 RAB6A PYCR1 MIA2 LTBP4 GORAB
7 cutis laxa 27.3 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8 atp6v0a2-related cutis laxa 11.5
9 cutis laxa, autosomal recessive, type iie 11.3
10 fbln5-related cutis laxa 10.3
11 dandy-walker syndrome 10.2
12 myopia 10.2
13 connective tissue disease 10.2
14 achondrogenesis 10.1 MIA2 GORAB
15 ureteric orifice cancer 10.1 FBLN5 EFEMP2
16 cutis laxa, autosomal dominant 2 10.1 FBLN5 EFEMP2
17 leukodystrophy, hypomyelinating, 10 10.0 PYCR1 ALDH18A1
18 ehlers-danlos syndrome, vascular type 10.0 FBLN5 EFEMP2
19 macs syndrome 10.0 RIN2 FBLN5
20 retinal drusen 10.0 FBLN5 EFEMP2
21 classic ehlers-danlos syndrome 10.0
22 doyne honeycomb retinal dystrophy 9.9 FBLN5 EFEMP2
23 congenital disorder of glycosylation, type in 9.9
24 orbital disease 9.9
25 oto-palatal-digital syndrome 9.9
26 spondyloepiphyseal dysplasia tarda, x-linked 9.9 MIA2 GORAB
27 bladder diverticulum 9.8 LTBP4 FBLN5 EFEMP2
28 arterial tortuosity syndrome 9.8 LTBP4 FBLN5 EFEMP2
29 geleophysic dysplasia 9.8 LTBP4 EFEMP2
30 supravalvular aortic stenosis 9.8 LTBP4 FBLN5 EFEMP2
31 loeys-dietz syndrome 9.8 LTBP4 FBLN5 EFEMP2
32 cutis laxa, autosomal dominant 3 9.8 PYCR1 ATP6V1E1 ALDH18A1
33 aortic aneurysm 9.7 LTBP4 FBLN5 EFEMP2
34 aortic aneurysm, familial thoracic 1 9.7 LTBP4 FBLN5 EFEMP2
35 cutis laxa, autosomal recessive, type iiia 9.4 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
36 cutis laxa, autosomal dominant 1 9.3 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
37 immunodeficiency 47 9.2 PYCR1 ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
38 cutis laxa, autosomal recessive, type iiib 9.2 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
39 cutis laxa, autosomal recessive, type ic 9.2 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
40 cutis laxa, autosomal recessive, type iid 9.1 RIN2 GORAB ATP6V1E1 ATP6V1A ATP6V0A2 ALDH18A1
41 occipital horn syndrome 9.0 RIN2 MIA2 LTBP4 GORAB FBLN5 EFEMP2
42 autosomal recessive cutis laxa type iii 9.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
43 cutis laxa, autosomal recessive, type ib 9.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
44 autosomal recessive cutis laxa type i 8.7 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
45 geroderma osteodysplasticum 7.8 RIN2 RAB6A PYCR1 MIA2 LTBP4 GORAB

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
dandy-walker malformation
polymicrogyria
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 Face:
flat face
long philtrum
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

Head And Neck Teeth:
dental caries

Abdomen Gastrointestinal:
feeding problems in infancy

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

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
myopia
downslanting palpebral fissures

Head And Neck Ears:
low-set ears

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

Skeletal:
joint hyperextensibility

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

Clinical features from OMIM®:

219200 (Updated 24-Oct-2022)

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

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

MalaCards : Skin, Bone, Brain, Eye
ODiseA: Brain

Publications for Cutis Laxa, Autosomal Recessive, Type Iia

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

(show all 36)
# Title Authors PMID Year
1
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 62 57 5
22773132 2012
2
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 57 5
18157129 2008
3
Defective protein glycosylation in patients with cutis laxa syndrome. 57 5
15657616 2005
4
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 62 57
18716235 2008
5
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. 62 57
10406678 1999
6
Male with type II autosomal recessive cutis laxa. 62 57
8149651 1994
7
De Barsy syndrome and ATP6V0A2-CDG. 57
20010974 2010
8
Autosomal recessive cutis laxa syndrome revisited. 57
19401719 2009
9
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes. 57
18819152 2008
10
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. 57
17971833 2008
11
Genetic defects in the human glycome. 57
16755287 2006
12
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 57
15107842 2004
13
Neurological involvement in a child with the wrinkly skin syndrome. 57
9916839 1999
14
Cutis laxa: a feature of Costello syndrome. 57
7512146 1994
15
Cutis laxa and the Costello syndrome. 57
8411045 1993
16
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. 57
1700609 1990
17
Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia. 57
2929668 1989
18
Congenital cutis laxa with retardation of growth and development. 57
3669050 1987
19
Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality. 57
2420495 1986
20
Variable clinical presentation of cutis laxa. 57
4064367 1985
21
Cutis laxa with intrauterine growth retardation and hip dislocation in a male. 57
565809 1978
22
Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. 57
5579863 1971
23
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A. 62
33369135 2021
24
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing 62
30474613 2019
25
[Clinical and genetic analysis of a patient with cutis laxa]. 62
29419872 2018
26
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 62
28294978 2017
27
Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells. 62
26611489 2015
28
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. 62
23963297 2014
29
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. 62
24478233 2014
30
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. 62
22611120 2012
31
NeCl2 and ArCl2: transition from direct vibrational predissociation to intramolecular vibrational relaxation and electronic nonadiabatic effects. 62
19754050 2010
32
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 62
19576563 2009
33
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 62
19321599 2009
34
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. 62
18348262 2008
35
Cutis laxa with growth and developmental delay. 62
11491141 2001
36
Cutis laxa, growth retardation and hip dislocation in a Sudanese child. 62
1721795 1991

Variations for Cutis Laxa, Autosomal Recessive, Type Iia

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

5 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) DEL Pathogenic
39452 rs1566294545 GRCh37: 12:124241423-124241429
GRCh38: 12:123756876-123756882
2 ATP6V0A2 ATP6V0A2, 1-BP INS, 100A INSERT Pathogenic
39453 GRCh37:
GRCh38:
3 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-3_2176-2del DEL Pathogenic
21496 rs367543007 GRCh37: 12:124238964-124238965
GRCh38: 12:123754417-123754418
4 ATP6V0A2 NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) DEL Pathogenic
996059 rs1956462432 GRCh37: 12:124212342-124212342
GRCh38: 12:123727795-123727795
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) DEL Pathogenic
996063 rs1956563926 GRCh37: 12:124221782-124221782
GRCh38: 12:123737235-123737235
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) SNV Pathogenic
844 rs80356758 GRCh37: 12:124239084-124239084
GRCh38: 12:123754537-123754537
7 ATP6V0A2 NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) SNV Pathogenic
845 rs80356750 GRCh37: 12:124203239-124203239
GRCh38: 12:123718692-123718692
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+1G>A SNV Pathogenic
21499 rs80356751 GRCh37: 12:124206996-124206996
GRCh38: 12:123722449-123722449
9 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) DEL Likely Pathogenic
21495 rs80356756 GRCh37: 12:124233326-124233326
GRCh38: 12:123748779-123748779
10 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) SNV Uncertain Significance
872301 rs777130500 GRCh37: 12:124236890-124236890
GRCh38: 12:123752343-123752343
11 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) SNV Uncertain Significance
210384 rs138886791 GRCh37: 12:124239029-124239029
GRCh38: 12:123754482-123754482
12 ATP6V0A2 NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) SNV Uncertain Significance
425021 rs752689489 GRCh37: 12:124197138-124197138
GRCh38: 12:123712591-123712591
13 ATP6V0A2 NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) SNV Uncertain Significance
593584 rs75746974 GRCh37: 12:124221734-124221734
GRCh38: 12:123737187-123737187
14 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) SNV Uncertain Significance
533136 rs774276857 GRCh37: 12:124241407-124241407
GRCh38: 12:123756860-123756860
15 ATP6V0A2 NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) SNV Uncertain Significance
Uncertain Significance
390767 rs143509747 GRCh37: 12:124209328-124209328
GRCh38: 12:123724781-123724781
16 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1189+12G>T SNV Uncertain Significance
391189 rs377235629 GRCh37: 12:124228494-124228494
GRCh38: 12:123743947-123743947
17 ATP6V0A2 NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) SNV Uncertain Significance
883835 rs747354658 GRCh37: 12:124210751-124210751
GRCh38: 12:123726204-123726204
18 ATP6V0A2 NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) SNV Uncertain Significance
676662 rs140835376 GRCh37: 12:124210758-124210758
GRCh38: 12:123726211-123726211
19 ATP6V0A2 NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) SNV Uncertain Significance
78884 rs181112338 GRCh37: 12:124212411-124212411
GRCh38: 12:123727864-123727864
20 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) SNV Uncertain Significance
883908 rs182439983 GRCh37: 12:124229438-124229438
GRCh38: 12:123744891-123744891
21 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) SNV Uncertain Significance
307587 rs371908109 GRCh37: 12:124229479-124229479
GRCh38: 12:123744932-123744932
22 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) SNV Uncertain Significance
1698977 GRCh37: 12:124241509-124241509
GRCh38: 12:123756962-123756962
23 ATP6V0A2 NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) SNV Uncertain Significance
307582 rs571403150 GRCh37: 12:124220140-124220140
GRCh38: 12:123735593-123735593
24 ATP6V0A2 NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) SNV Uncertain Significance
Uncertain Significance
307578 rs144499089 GRCh37: 12:124209215-124209215
GRCh38: 12:123724668-123724668
25 ATP6V0A2 NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) SNV Uncertain Significance
Uncertain Significance
307580 rs143802431 GRCh37: 12:124212422-124212422
GRCh38: 12:123727875-123727875
26 ATP6V0A2 NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) SNV Uncertain Significance
307579 rs563333869 GRCh37: 12:124209218-124209218
GRCh38: 12:123724671-123724671
27 ATP6V0A2 NM_012463.4(ATP6V0A2):c.522-9G>A SNV Uncertain Significance
284399 rs189175284 GRCh37: 12:124212321-124212321
GRCh38: 12:123727774-123727774
28 ATP6V0A2 NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) SNV Uncertain Significance
880544 rs201247720 GRCh37: 12:124220137-124220137
GRCh38: 12:123735590-123735590
29 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) SNV Uncertain Significance
499896 rs768609186 GRCh37: 12:124241406-124241406
GRCh38: 12:123756859-123756859
30 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) SNV Uncertain Significance
1034405 rs199698721 GRCh37: 12:124228405-124228405
GRCh38: 12:123743858-123743858
31 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) SNV Uncertain Significance
1098631 GRCh37: 12:124235753-124235753
GRCh38: 12:123751206-123751206
32 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2876A>T SNV Uncertain Significance
882157 rs191476665 GRCh37: 12:124245455-124245455
GRCh38: 12:123760908-123760908
33 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2929C>G SNV Uncertain Significance
882158 rs145602576 GRCh37: 12:124245508-124245508
GRCh38: 12:123760961-123760961
34 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3262G>A SNV Uncertain Significance
882408 rs1593929112 GRCh37: 12:124245841-124245841
GRCh38: 12:123761294-123761294
35 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1803C>T SNV Uncertain Significance
883247 rs117646592 GRCh37: 12:124244382-124244382
GRCh38: 12:123759835-123759835
36 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3684C>T SNV Uncertain Significance
884117 rs1051636200 GRCh37: 12:124246263-124246263
GRCh38: 12:123761716-123761716
37 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3707A>G SNV Uncertain Significance
884118 rs1203316393 GRCh37: 12:124246286-124246286
GRCh38: 12:123761739-123761739
38 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*3368T>G SNV Uncertain Significance
882410 rs1956822109 GRCh37: 12:124245947-124245947
GRCh38: 12:123761400-123761400
39 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) SNV Uncertain Significance
883132 rs985944979 GRCh37: 12:124228881-124228881
GRCh38: 12:123744334-123744334
40 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) SNV Uncertain Significance
Uncertain Significance
883133 rs532258057 GRCh37: 12:124229247-124229247
GRCh38: 12:123744700-123744700
41 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1515-12T>G SNV Uncertain Significance
883134 rs201512900 GRCh37: 12:124229417-124229417
GRCh38: 12:123744870-123744870
42 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) SNV Uncertain Significance
883191 rs775425809 GRCh37: 12:124242555-124242555
GRCh38: 12:123758008-123758008
43 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*63C>T SNV Uncertain Significance
883192 rs576086591 GRCh37: 12:124242642-124242642
GRCh38: 12:123758095-123758095
44 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1950G>A SNV Uncertain Significance
883249 rs1956794312 GRCh37: 12:124244529-124244529
GRCh38: 12:123759982-123759982
45 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*575G>A SNV Uncertain Significance
883986 rs996318859 GRCh37: 12:124243154-124243154
GRCh38: 12:123758607-123758607
46 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*643C>T SNV Uncertain Significance
883987 rs377386130 GRCh37: 12:124243222-124243222
GRCh38: 12:123758675-123758675
47 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*706T>G SNV Uncertain Significance
883988 rs1288578795 GRCh37: 12:124243285-124243285
GRCh38: 12:123758738-123758738
48 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*742G>A SNV Uncertain Significance
883989 rs964496583 GRCh37: 12:124243321-124243321
GRCh38: 12:123758774-123758774
49 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2090C>T SNV Uncertain Significance
884054 rs772018611 GRCh37: 12:124244669-124244669
GRCh38: 12:123760122-123760122
50 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*191T>C SNV Uncertain Significance
307601 rs150408179 GRCh37: 12:124242770-124242770
GRCh38: 12:123758223-123758223

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

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iia

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

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 9.73 ATP6V1E1 ATP6V1A
2 proton-transporting V-type ATPase complex GO:0033176 9.67 ATP6V1A ATP6V0A2
3 microfibril GO:0001527 9.62 LTBP4 EFEMP2
4 vacuolar proton-transporting V-type ATPase, V1 domain GO:0000221 9.56 ATP6V1E1 ATP6V1A
5 ATPase complex GO:1904949 9.4 ATP6V1A ATP6V0A2
6 proton-transporting two-sector ATPase complex GO:0016469 9.26 ATP6V1E1 ATP6V1A
7 transmembrane transporter complex GO:1902495 9.16 ATP6V1A ATP6V0A2
8 elastic fiber GO:0071953 8.92 FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.93 ATP6V1E1 ATP6V1A ATP6V0A2
2 vacuolar acidification GO:0007035 9.78 ATP6V1A ATP6V0A2
3 Golgi lumen acidification GO:0061795 9.71 ATP6V1A ATP6V0A2
4 regulation of macroautophagy GO:0016241 9.63 ATP6V1E1 ATP6V1A ATP6V0A2
5 cellular response to increased oxygen levels GO:0036295 9.62 ATP6V0A2 ATP6V1A
6 L-proline biosynthetic process GO:0055129 9.56 PYCR1 ALDH18A1
7 amino acid biosynthetic process GO:0008652 9.43 PYCR1 ALDH18A1
8 synaptic vesicle lumen acidification GO:0097401 9.37 ATP6V1E1 ATP6V1A
9 proline biosynthetic process GO:0006561 9.26 PYCR1 ALDH18A1
10 elastic fiber assembly GO:0048251 9.02 LTBP4 FBLN5 EFEMP2

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Iia 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 Iia

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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