ARCL2A
MCID: CTS038
MIFTS: 46

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 56 13 39 71
Cutis Laxa with Joint Laxity and Retarded Development 56 74 52 73
Arcl2a 56 12 52 73
Cutis Laxa with Growth and Developmental Delay 56 52 73
Cutis Laxa with Bone Dystrophy 56 52 73
Cutis Laxa, Debre Type 56 52 73
Cutis Laxa with Congenital Disorder of Glycosylation 56 73
Autosomal Recessive Cutis Laxa Type Iia 12 15
Arcl2 56 73
Cutis Laxa, Autosomal Recessive Type 2a 52
Cutis Laxa Autosomal Recessive Type Iia 73
Cutis Laxa, Autosomal Recessive, 2a 73
Cl Type Iia 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
skin abnormalities tend to decrease with age


HPO:

31
cutis laxa, autosomal recessive, type iia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iia

OMIM : 56 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 cutis laxa, autosomal dominant 1 and cutis laxa, autosomal recessive, type ia, 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 Arginine and proline metabolism and Amino acid synthesis and interconversion (transamination). Affiliated tissues include skin, brain and eye, and related phenotypes are intellectual disability and inguinal hernia

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 : 73 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 : 74 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
Autosomal Recessive Cutis Laxa Type Iii Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa Autosomal Recessive Cutis Laxa Type 2

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 1 31.2 FBLN5 EFEMP2 ALDH18A1
2 cutis laxa, autosomal recessive, type ia 28.6 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
3 cutis laxa, autosomal recessive, type iib 28.3 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
4 autosomal recessive cutis laxa type ii classic type 28.1 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
5 cutis laxa 27.1 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
6 atp6v0a2-related cutis laxa 11.7
7 autosomal recessive cutis laxa type 2 11.6
8 dandy-walker syndrome 10.3
9 joint laxity, short stature, and myopia 10.3
10 inguinal hernia 10.3
11 myopia 10.3
12 congenital disorders of n-linked glycosylation and multiple pathway 10.3
13 ehlers-danlos syndrome 10.2
14 wrinkly skin syndrome 10.2
15 fbln5-related cutis laxa 10.2
16 borderline glaucoma 10.1 PYCR1 GORAB
17 ureteric orifice cancer 10.0 FBLN5 EFEMP2
18 tricuspid valve prolapse 10.0 FBLN5 EFEMP2
19 macs syndrome 9.9 RIN2 FBLN5
20 bladder diverticulum 9.9 LTBP4 EFEMP2 ATP6V0A2
21 doyne honeycomb retinal dystrophy 9.9 FBLN5 EFEMP2
22 spastic paraplegia 9b, autosomal recessive 9.8 PYCR1 ALDH18A1
23 spastic paraplegia 9a, autosomal dominant 9.8 PYCR1 ALDH18A1
24 neu-laxova syndrome 2 9.7 PYCR1 ALDH18A1
25 supravalvular aortic stenosis 9.7 FBLN5 EFEMP2
26 arterial tortuosity syndrome 9.7 LTBP4 FBLN5 EFEMP2
27 hyperprolinemia 9.7 PYCR1 ALDH18A1
28 aortic aneurysm, familial thoracic 1 9.6 FBLN5 EFEMP2
29 proximal spinal muscular atrophy 9.6 RAB6A FBLN5
30 cutis laxa, autosomal recessive, type iid 9.3 RIN2 LTBP4 GORAB ATP6V1E1 ATP6V0A2
31 cutis laxa, autosomal recessive, type iiib 8.9 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
32 cutis laxa, autosomal recessive, type iiia 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
33 occipital horn syndrome 8.6 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
34 autosomal recessive cutis laxa type i 8.2 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
35 autosomal recessive cutis laxa type iii 8.2 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
36 cutis laxa, autosomal recessive, type ib 8.2 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
37 cutis laxa, autosomal recessive, type ic 8.2 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
38 geroderma osteodysplasticum 7.6 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5

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:

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
dandy-walker malformation
polymicrogyria
hypotonia
delayed motor development
more
Head And Neck Head:
microcephaly

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

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

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

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

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


seizures

MGI Mouse Phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 GORAB LTBP4

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:

40
Skin, Brain, Eye, Bone

Publications for Cutis Laxa, Autosomal Recessive, Type Iia

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

(show all 27)
# Title Authors PMID Year
1
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 56 6
22773132 2012
2
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 56 6
18157129 2008
3
Defective protein glycosylation in patients with cutis laxa syndrome. 56 6
15657616 2005
4
ATP6V0A2-Related Cutis Laxa 6 61
20301755 2009
5
De Barsy syndrome and ATP6V0A2-CDG. 56
20010974 2010
6
Autosomal recessive cutis laxa syndrome revisited. 56
19401719 2009
7
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes. 56
18819152 2008
8
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. 56
18716235 2008
9
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. 56
17971833 2008
10
Genetic defects in the human glycome. 56
16755287 2006
11
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 56
15107842 2004
12
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. 56
10406678 1999
13
Neurological involvement in a child with the wrinkly skin syndrome. 56
9916839 1999
14
Male with type II autosomal recessive cutis laxa. 56
8149651 1994
15
Cutis laxa: a feature of Costello syndrome. 56
7512146 1994
16
Cutis laxa and the Costello syndrome. 56
8411045 1993
17
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. 56
1700609 1990
18
Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia. 56
2929668 1989
19
Congenital cutis laxa with retardation of growth and development. 56
3669050 1987
20
Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality. 56
2420495 1986
21
Variable clinical presentation of cutis laxa. 56
4064367 1985
22
Cutis laxa with intrauterine growth retardation and hip dislocation in a male. 56
565809 1978
23
Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. 56
5579863 1971
24
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing 61
30474613 2019
25
[Clinical and genetic analysis of a patient with cutis laxa]. 61
29419872 2018
26
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 61
28294978 2017
27
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. 61
24478233 2014

Variations for Cutis Laxa, Autosomal Recessive, Type Iia

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

6 (show top 50) (show all 158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)SNV Pathogenic 844 rs80356758 12:124239084-124239084 12:123754537-123754537
2 ATP6V0A2 NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)SNV Pathogenic 845 rs80356750 12:124203239-124203239 12:123718692-123718692
3 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-3_2176-2deldeletion Pathogenic 21496 rs367543007 12:124238964-124238965 12:123754417-123754418
4 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)SNV Pathogenic 21494 rs80356755 12:124228882-124228882 12:123744335-123744335
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.294+1G>ASNV Pathogenic 21499 rs80356751 12:124206996-124206996 12:123722449-123722449
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)deletion Pathogenic 21500 rs80356752 12:124209259-124209260 12:123724712-123724713
7 ATP6V0A2 NM_012463.4(ATP6V0A2):c.732-2A>GSNV Pathogenic 21501 rs80356753 12:124220076-124220076 12:123735529-123735529
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)deletion Pathogenic 21502 rs80356754 12:124221619-124221619 12:123737072-123737072
9 ATP6V0A2 ATP6V0A2, 1-BP INS, 100Ainsertion Pathogenic 39453
10 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)deletion Pathogenic 39452 rs1566294545 12:124241423-124241429 12:123756876-123756882
11 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)deletion Pathogenic/Likely pathogenic 21495 rs80356756 12:124233326-124233326 12:123748779-123748779
12 ATP6V0A2 NM_012463.4(ATP6V0A2):c.522-9G>ASNV Conflicting interpretations of pathogenicity 284399 rs189175284 12:124212321-124212321 12:123727774-123727774
13 ATP6V0A2 NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)SNV Conflicting interpretations of pathogenicity 307583 rs367873118 12:124221773-124221773 12:123737226-123737226
14 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)SNV Conflicting interpretations of pathogenicity 307594 rs367950442 12:124235735-124235735 12:123751188-123751188
15 ATP6V0A2 NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)SNV Conflicting interpretations of pathogenicity 307577 rs139785866 12:124206965-124206965 12:123722418-123722418
16 ATP6V0A2 NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)SNV Conflicting interpretations of pathogenicity 307579 rs563333869 12:124209218-124209218 12:123724671-123724671
17 ATP6V0A2 NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)SNV Conflicting interpretations of pathogenicity 307580 rs143802431 12:124212422-124212422 12:123727875-123727875
18 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1189+12G>TSNV Conflicting interpretations of pathogenicity 391189 rs377235629 12:124228494-124228494 12:123743947-123743947
19 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)SNV Conflicting interpretations of pathogenicity 95518 rs138716143 12:124228816-124228816 12:123744269-123744269
20 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)SNV Conflicting interpretations of pathogenicity 166708 rs143142641 12:124229303-124229303 12:123744756-123744756
21 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)SNV Conflicting interpretations of pathogenicity 210384 rs138886791 12:124239029-124239029 12:123754482-123754482
22 ATP6V0A2 NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)SNV Conflicting interpretations of pathogenicity 498312 rs139785866 12:124206965-124206965 12:123722418-123722418
23 ATP6V0A2 NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)SNV Conflicting interpretations of pathogenicity 676662 12:124210758-124210758 12:123726211-123726211
24 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1620T>ASNV Uncertain significance 882105 12:124244199-124244199 12:123759652-123759652
25 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)SNV Uncertain significance 533136 rs774276857 12:124241407-124241407 12:123756860-123756860
26 ATP6V0A2 NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)SNV Uncertain significance 593584 rs75746974 12:124221734-124221734 12:123737187-123737187
27 ATP6V0A2 NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)SNV Uncertain significance 425021 rs752689489 12:124197138-124197138 12:123712591-123712591
28 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)SNV Uncertain significance 451817 rs781305219 12:124221798-124221798 12:123737251-123737251
29 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1950G>ASNV Uncertain significance 883249 12:124244529-124244529 12:123759982-123759982
30 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2090C>TSNV Uncertain significance 884054 12:124244669-124244669 12:123760122-123760122
31 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*1803C>TSNV Uncertain significance 883247 12:124244382-124244382 12:123759835-123759835
32 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*2618A>GSNV Uncertain significance 880762 12:124245197-124245197 12:123760650-123760650
33 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2176-10TC[2]short repeat Uncertain significance 813895 12:124238957-124238960 12:123754410-123754413
34 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)SNV Uncertain significance 872301 12:124236890-124236890 12:123752343-123752343
35 ATP6V0A2 NM_012463.4(ATP6V0A2):c.-114G>ASNV Uncertain significance 881884 12:124196999-124196999 12:123712452-123712452
36 ATP6V0A2 NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp)SNV Uncertain significance 881885 12:124197201-124197201 12:123712654-123712654
37 ATP6V0A2 NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)SNV Uncertain significance 883835 12:124210751-124210751 12:123726204-123726204
38 ATP6V0A2 NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln)SNV Uncertain significance 880542 12:124220122-124220122 12:123735575-123735575
39 ATP6V0A2 NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met)SNV Uncertain significance 880543 12:124220132-124220132 12:123735585-123735585
40 ATP6V0A2 NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)SNV Uncertain significance 880544 12:124220137-124220137 12:123735590-123735590
41 ATP6V0A2 NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)SNV Uncertain significance 880545 12:124220139-124220139 12:123735592-123735592
42 ATP6V0A2 NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)SNV Uncertain significance 881962 12:124221700-124221700 12:123737153-123737153
43 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)SNV Uncertain significance 883132 12:124228881-124228881 12:123744334-123744334
44 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)SNV Uncertain significance 883133 12:124229247-124229247 12:123744700-123744700
45 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)SNV Uncertain significance 883908 12:124229438-124229438 12:123744891-123744891
46 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=)SNV Uncertain significance 882037 12:124241480-124241480 12:123756933-123756933
47 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)SNV Uncertain significance 882038 12:124241507-124241507 12:123756960-123756960
48 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu)SNV Uncertain significance 883191 12:124242555-124242555 12:123758008-123758008
49 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*63C>TSNV Uncertain significance 883192 12:124242642-124242642 12:123758095-123758095
50 ATP6V0A2 NM_012463.4(ATP6V0A2):c.*575G>ASNV Uncertain significance 883986 12:124243154-124243154 12:123758607-123758607

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
11.01 PYCR1 ALDH18A1
2
Show member pathways
10.78 PYCR1 ALDH18A1
3
Show member pathways
10.66 LTBP4 FBLN5 EFEMP2
4
Show member pathways
10.34 PYCR1 ALDH18A1

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 collagen-containing extracellular matrix GO:0062023 8.8 LTBP4 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 regulation of cell growth GO:0001558 9.43 LTBP4 FBLN5
2 regulation of macroautophagy GO:0016241 9.4 ATP6V1E1 ATP6V0A2
3 cellular amino acid biosynthetic process GO:0008652 9.37 PYCR1 ALDH18A1
4 transferrin transport GO:0033572 9.32 ATP6V1E1 ATP6V0A2
5 phagosome acidification GO:0090383 9.26 ATP6V1E1 ATP6V0A2
6 elastic fiber assembly GO:0048251 9.16 FBLN5 EFEMP2
7 L-proline biosynthetic process GO:0055129 8.96 PYCR1 ALDH18A1
8 proline biosynthetic process GO:0006561 8.62 PYCR1 ALDH18A1

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 8.62 ATP6V1E1 ATP6V0A2

Sources for Cutis Laxa, Autosomal Recessive, Type Iia

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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