MCID: ATS391
MIFTS: 36

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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and PI3K-Akt signaling pathway. Affiliated tissues include skin, bone and cortex, and related phenotypes are malar flattening and hypertelorism

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 32.1 ATP6V0A2 GORAB
2 cutis laxa, autosomal recessive, type iic 11.5
3 cutis laxa, autosomal recessive, type iid 11.5
4 cutis laxa, autosomal recessive, type iib 9.9 ATP6V0A2 GORAB
5 autosomal recessive cutis laxa type iii 9.8 ATP6V0A2 GORAB
6 cutis laxa 9.6 ATP6V0A2 ATP6V1A ATP6V1E1

Graphical network of the top 20 diseases related to Autosomal Recessive Cutis Laxa Type Ii Classic Type:



Diseases related to Autosomal Recessive Cutis Laxa Type Ii Classic Type

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

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

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
7 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
8 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
11 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
12 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
13 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
14 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
15 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
16 decreased muscle mass 59 32 hallmark (90%) Very frequent (99-80%) HP:0003199
17 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
18 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
19 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
20 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
21 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
22 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
23 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
24 congenital hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001374
25 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
26 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
27 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
28 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
29 intellectual disability, profound 59 32 hallmark (90%) Very frequent (99-80%) HP:0002187
30 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
31 polymicrogyria 59 32 frequent (33%) Frequent (79-30%) HP:0002126
32 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
33 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
34 abnormal subcutaneous fat tissue distribution 59 32 hallmark (90%) Very frequent (99-80%) HP:0007552
35 psychomotor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002361
36 excessive wrinkled skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0007392
37 generalized joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002761
38 poor speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002465
39 thick hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0100874
40 redundant neck skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0005989
41 delayed closure of the anterior fontanelle 59 32 obligate (100%) Obligate (100%) HP:0001476
42 progressive microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000253
43 abnormal isoelectric focusing of serum transferrin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003160
44 prominent nasolabial fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0005272
45 thick cerebral cortex 59 32 hallmark (90%) Very frequent (99-80%) HP:0006891
46 prominent veins on trunk 59 32 hallmark (90%) Very frequent (99-80%) HP:0007457
47 infantile muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008947
48 fragmented elastic fibers in the dermis 59 32 hallmark (90%) Very frequent (99-80%) HP:0025167
49 abnormality of the intrinsic pathway 59 32 occasional (7.5%) Occasional (29-5%) HP:0010989
50 abnormal apolipoprotein level 59 32 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:

26
# 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:

41
Skin, Bone, Cortex

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
12.71 ATP6V0A2 ATP6V1A ATP6V1E1
2
Show member pathways
12.39 ATP6V0A2 ATP6V1A ATP6V1E1
3
Show member pathways
11.99 ATP6V0A2 ATP6V1A ATP6V1E1
4
Show member pathways
11.9 ATP6V1A ATP6V1E1
5
Show member pathways
11.88 ATP6V0A2 ATP6V1A ATP6V1E1
6 11.51 ATP6V0A2 ATP6V1A ATP6V1E1
7
Show member pathways
11.19 ATP6V0A2 ATP6V1A ATP6V1E1
8 10.75 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 microvillus GO:0005902 9.16 ATP6V1A ATP6V1E1
3 lysosomal membrane GO:0005765 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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