MCID: ATS391
MIFTS: 34

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Summaries for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Disease Ontology : 12 A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.

MalaCards based summary : Autosomal Recessive Cutis Laxa Type Ii Classic Type, also known as arcl2, classic type, is related to cutis laxa, autosomal recessive, type iia and cutis laxa, autosomal recessive, type iic. An important gene associated with Autosomal Recessive Cutis Laxa Type Ii Classic Type is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways are Innate Immune System and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include skin, cortex and bone, and related phenotypes are delayed closure of the anterior fontanelle and malar flattening

Related Diseases for Autosomal Recessive Cutis Laxa Type Ii Classic Type

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

# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iia 11.5
2 cutis laxa, autosomal recessive, type iic 11.5
3 cutis laxa, autosomal recessive, type iid 11.5
4 cutis laxa 9.1 ATP6V0A2 ATP6V1A ATP6V1E1

Symptoms & Phenotypes for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Human phenotypes related to Autosomal Recessive Cutis Laxa Type Ii Classic Type:

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed closure of the anterior fontanelle 60 33 obligate (100%) Obligate (100%) HP:0001476
2 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
4 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
5 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
6 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
7 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
8 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
9 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
10 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
11 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
12 coarse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002208
13 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
14 decreased muscle mass 60 33 hallmark (90%) Very frequent (99-80%) HP:0003199
15 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
16 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
17 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
18 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
19 lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009125
20 motor delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001270
21 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
22 dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000726
23 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
24 intellectual disability, profound 60 33 hallmark (90%) Very frequent (99-80%) HP:0002187
25 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
26 abnormal subcutaneous fat tissue distribution 60 33 hallmark (90%) Very frequent (99-80%) HP:0007552
27 psychomotor deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002361
28 excessive wrinkled skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0007392
29 generalized joint laxity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002761
30 poor speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0002465
31 thick hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0100874
32 redundant neck skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0005989
33 infantile muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008947
34 progressive microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000253
35 abnormal isoelectric focusing of serum transferrin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003160
36 prominent nasolabial fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0005272
37 thick cerebral cortex 60 33 hallmark (90%) Very frequent (99-80%) HP:0006891
38 prominent veins on trunk 60 33 hallmark (90%) Very frequent (99-80%) HP:0007457
39 fragmented elastic fibers in the dermis 60 33 hallmark (90%) Very frequent (99-80%) HP:0025167
40 high myopia 33 hallmark (90%) HP:0011003
41 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
42 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
43 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
44 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
45 congenital hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001374
46 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
47 pachygyria 60 33 frequent (33%) Frequent (79-30%) HP:0001302
48 polymicrogyria 60 33 frequent (33%) Frequent (79-30%) HP:0002126
49 dandy-walker malformation 60 33 frequent (33%) Frequent (79-30%) HP:0001305
50 abnormal apolipoprotein level 60 33 frequent (33%) Frequent (79-30%) HP:0025201

GenomeRNAi Phenotypes related to Autosomal Recessive Cutis Laxa Type Ii Classic Type according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased infection with West Nile virus (WNV) GR00348-A-2 8.62 ATP6V1A ATP6V1E1

Drugs & Therapeutics for Autosomal Recessive Cutis Laxa Type Ii Classic Type

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

Genetic Tests for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Anatomical Context for Autosomal Recessive Cutis Laxa Type Ii Classic Type

MalaCards organs/tissues related to Autosomal Recessive Cutis Laxa Type Ii Classic Type:

42
Skin, Cortex, Bone

Publications for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Variations for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Expression for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Search GEO for disease gene expression data for Autosomal Recessive Cutis Laxa Type Ii Classic Type.

Pathways for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Pathways related to Autosomal Recessive Cutis Laxa Type Ii Classic Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 ATP6V0A2 ATP6V1A ATP6V1E1 VWF
2
Show member pathways
12.74 ATP6V0A2 ATP6V1A ATP6V1E1
3
Show member pathways
12.29 ATP6V0A2 ATP6V1A ATP6V1E1 VWF
4
Show member pathways
12.04 ATP6V0A2 ATP6V1A ATP6V1E1
5
Show member pathways
11.94 ATP6V0A2 ATP6V1A ATP6V1E1
6
Show member pathways
11.92 ATP6V1A ATP6V1E1
7 11.61 ATP6V0A2 ATP6V1A ATP6V1E1
8
Show member pathways
11.25 ATP6V0A2 ATP6V1A ATP6V1E1
9 10.76 ATP6V0A2 ATP6V1A ATP6V1E1

GO Terms for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Cellular components related to Autosomal Recessive Cutis Laxa Type Ii Classic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.26 ATP6V1A ATP6V1E1
2 lysosomal membrane GO:0005765 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
3 microvillus GO:0005902 8.85 ATP6V1A
4 proton-transporting two-sector ATPase complex GO:0016469 8.62 ATP6V1A ATP6V1E1

Biological processes related to Autosomal Recessive Cutis Laxa Type Ii Classic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.61 ATP6V0A2 ATP6V1A ATP6V1E1
2 ion transmembrane transport GO:0034220 9.54 ATP6V0A2 ATP6V1A ATP6V1E1
3 proton transmembrane transport GO:1902600 9.46 ATP6V1A ATP6V1E1
4 insulin receptor signaling pathway GO:0008286 9.43 ATP6V0A2 ATP6V1A ATP6V1E1
5 cellular iron ion homeostasis GO:0006879 9.4 ATP6V0A2 ATP6V1A
6 regulation of macroautophagy GO:0016241 9.33 ATP6V0A2 ATP6V1A ATP6V1E1
7 cellular response to increased oxygen levels GO:0036295 9.32 ATP6V0A2 ATP6V1A
8 transferrin transport GO:0033572 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
9 ATP hydrolysis coupled proton transport GO:0015991 8.8 ATP6V0A2 ATP6V1A ATP6V1E1

Molecular functions related to Autosomal Recessive Cutis Laxa Type Ii Classic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.96 ATP6V0A2 ATP6V1E1
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.8 ATP6V0A2 ATP6V1A ATP6V1E1

Sources for Autosomal Recessive Cutis Laxa Type Ii Classic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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