MCID: ATS391
MIFTS: 35

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Categories: Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases, Rare 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 ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 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 abnormal subcutaneous fat tissue distribution and sparse hair

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 11.3
2 cutis laxa, autosomal recessive, type iic 11.3
3 cutis laxa, autosomal recessive, type iid 11.3
4 cutis laxa 8.2 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:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal subcutaneous fat tissue distribution 59 32 hallmark (90%) Very frequent (99-80%) HP:0007552
2 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
3 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
4 infantile muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008947
5 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
6 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
7 fragmented elastic fibers in the dermis 59 32 hallmark (90%) Very frequent (99-80%) HP:0025167
8 thick hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0100874
9 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
10 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
11 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
12 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
13 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
14 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
15 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
16 congenital hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001374
17 polymicrogyria 59 32 frequent (33%) Frequent (79-30%) HP:0002126
18 abnormal apolipoprotein level 59 32 frequent (33%) Frequent (79-30%) HP:0025201
19 subretinal pigment epithelium hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0025244
20 abnormality of the intrinsic pathway 59 32 occasional (7.5%) Occasional (29-5%) HP:0010989
21 delayed closure of the anterior fontanelle 59 32 obligate (100%) Obligate (100%) HP:0001476
22 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
23 progressive microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000253
24 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
25 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
26 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
27 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
28 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
29 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
30 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
31 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
32 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
33 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
34 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
35 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
36 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
37 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
38 intellectual disability, profound 59 32 hallmark (90%) Very frequent (99-80%) HP:0002187
39 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
40 psychomotor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002361
41 poor speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002465
42 generalized joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002761
43 abnormal isoelectric focusing of serum transferrin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003160
44 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
45 decreased muscle mass 59 32 hallmark (90%) Very frequent (99-80%) HP:0003199
46 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
47 prominent nasolabial fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0005272
48 redundant neck skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0005989
49 thick cerebral cortex 59 32 hallmark (90%) Very frequent (99-80%) HP:0006891
50 excessive wrinkled skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0007392

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, Cortex, Bone, Eye

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
12.84 ATP6V0A2 ATP6V1A ATP6V1E1
2
Show member pathways
12.67 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 9.63 ATP6V0A2 ATP6V1A ATP6V1E1
2 ion transmembrane transport GO:0034220 9.58 ATP6V0A2 ATP6V1A ATP6V1E1
3 insulin receptor signaling pathway GO:0008286 9.5 ATP6V0A2 ATP6V1A ATP6V1E1
4 cellular iron ion homeostasis GO:0006879 9.43 ATP6V0A2 ATP6V1A
5 regulation of macroautophagy GO:0016241 9.43 ATP6V0A2 ATP6V1A ATP6V1E1
6 cellular response to increased oxygen levels GO:0036295 9.37 ATP6V0A2 ATP6V1A
7 transferrin transport GO:0033572 9.33 ATP6V0A2 ATP6V1A ATP6V1E1
8 ATP hydrolysis coupled proton transport GO:0015991 9.13 ATP6V0A2 ATP6V1A ATP6V1E1
9 phagosome acidification GO:0090383 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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