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

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type Ii Classic Type:

Name: Autosomal Recessive Cutis Laxa Type Ii Classic Type 11 14
Arcl2, Classic Type 11 58
Arcl2, Debre Type 11 58
Autosomal Recessive Cutis Laxa Type 2, Classic Type 58
Autosomal Recessive Cutis Laxa Type 2, Debre Type 58

Characteristics:


Inheritance:

Autosomal Recessive Cutis Laxa Type 2, Classic Type: Autosomal recessive 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Autosomal Recessive Cutis Laxa Type Ii Classic Type

Disease Ontology: 11 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 iid and cutis laxa, autosomal recessive, type iia. 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 Insulin receptor signalling cascade and Ion channel transport. Affiliated tissues include skin, bone and cortex, and related phenotypes are delayed closure of the anterior fontanelle and failure to thrive

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:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iid 31.9 RIN2 PI4K2A GORAB ATP6V1E1 ATP6V1A ATP6V0A2
2 cutis laxa, autosomal recessive, type iia 30.9 RIN2 RAB6A PYCR1 MIA2 LTBP4 GORAB
3 cutis laxa, autosomal recessive, type iic 11.5
4 cutis laxa, autosomal dominant 2 10.2 FBLN5 EFEMP2
5 congenital disorder of glycosylation, type iip 10.2 ATP6V0A2 ATP6AP1
6 congenital disorder of glycosylation, type iio 10.1 ATP6V0A2 ATP6AP1
7 macs syndrome 10.1 RIN2 FBLN5
8 congenital disorder of glycosylation, type in 10.0 GORAB ATP6V0A2 ATP6AP1
9 ureteric orifice cancer 10.0 FBLN5 ELN EFEMP2
10 ehlers-danlos syndrome, vascular type 10.0 FBLN5 ELN EFEMP2
11 cutis laxa, autosomal dominant 3 10.0 PYCR1 PI4K2A ATP6V1E1 ALDH18A1
12 stiff skin syndrome 10.0 LTBP4 ELN
13 aortic dissection 10.0 FBLN5 ELN EFEMP2
14 diaphragmatic hernia, congenital 9.9 LTBP4 ELN EFEMP2
15 arterial tortuosity syndrome 9.9 LTBP4 FBLN5 ELN EFEMP2
16 ehlers-danlos syndrome 9.9 MIA2 FBLN5 ELN EFEMP2
17 aortic aneurysm 9.9 LTBP4 FBLN5 ELN EFEMP2
18 retinal drusen 9.9 FBLN5 FBLN1 EFEMP2
19 supravalvular aortic stenosis 9.9 LTBP4 FBLN5 ELN EFEMP2
20 loeys-dietz syndrome 9.9 LTBP4 FBLN5 ELN EFEMP2
21 phacogenic glaucoma 9.8 FBLN5 ELN
22 cutis laxa, autosomal recessive, type iiia 9.8 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
23 cardiomyopathy, dilated, 1l 9.8 FBLN5 FBLN1
24 immunodeficiency 47 9.8 PYCR1 ATP6V1E1 ATP6V1A ATP6V0A2 ATP6AP1 ALDH18A1
25 leukodystrophy, hypomyelinating, 10 9.8 PYCR2 PYCR1 ALDH18A1
26 doyne honeycomb retinal dystrophy 9.7 FBLN7 FBLN5 FBLN1 EFEMP2
27 cutis laxa, autosomal recessive, type iiib 9.7 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
28 inguinal hernia 9.7 PYCR1 LTBP4 FBLN5 ELN EFEMP2 ATP6V0A2
29 cutis laxa, autosomal recessive, type ic 9.7 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
30 bladder diverticulum 9.7 LTBP4 FBLN5 ELN EFEMP2 ATP7A
31 wrinkly skin syndrome 9.6 PYCR1 GORAB FBLN5 ELN EFEMP2 ATP6V0A2
32 cutis laxa, autosomal dominant 1 9.6 PYCR1 LTBP4 FBLN5 ELN EFEMP2 ATP6V0A2
33 cutis laxa, autosomal recessive, type ia 9.5 LTBP4 FBLN7 FBLN5 ELN EFEMP2 ATP6V0A2
34 aortic aneurysm, familial thoracic 1 9.3 LTBP4 FBLN5 FBLN2 FBLN1 ELN EFEMP2
35 cutis laxa, autosomal recessive, type ib 9.2 RIN2 PYCR1 LTBP4 GORAB FBLN7 FBLN5
36 autosomal recessive cutis laxa type iii 9.2 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5
37 occipital horn syndrome 9.1 RIN2 MIA2 LTBP4 GORAB FBLN5 ELN
38 geroderma osteodysplasticum 9.1 RIN2 RAB6A PYCR1 MIA2 LTBP4 GORAB
39 cutis laxa, autosomal recessive, type iib 9.1 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5
40 autosomal recessive cutis laxa type i 8.4 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN7
41 cutis laxa 8.1 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5

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:

58 30 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed closure of the anterior fontanelle 58 30 Obligate (100%) Obligate (100%)
HP:0001476
2 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
3 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
4 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
5 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
6 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
7 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000750
8 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003196
9 smooth philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000319
10 coarse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002208
11 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
12 decreased muscle mass 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003199
13 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
14 postnatal growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008897
15 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
16 lipodystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009125
17 motor delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001270
18 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
19 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
20 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
21 sparse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008070
22 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011968
23 thick hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100874
24 intellectual disability, profound 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002187
25 abnormal subcutaneous fat tissue distribution 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007552
26 dementia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000726
27 broad nasal tip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000455
28 excessive wrinkled skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007392
29 high myopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011003
30 redundant neck skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005989
31 poor speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002465
32 generalized joint laxity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002761
33 fragmented elastic fibers in the dermis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025167
34 infantile muscular hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008947
35 psychomotor deterioration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002361
36 prominent veins on trunk 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007457
37 progressive microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000253
38 prominent nasolabial fold 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005272
39 abnormal isoelectric focusing of serum transferrin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003160
40 thick cerebral cortex 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006891
41 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
42 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
43 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000023
44 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
45 congenital hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001374
46 dandy-walker malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001305
47 subretinal pigment epithelium hemorrhage 58 30 Frequent (33%) Frequent (79-30%)
HP:0025244
48 polymicrogyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002126
49 pachygyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001302
50 abnormal circulating apolipoprotein concentration 30 Frequent (33%) HP:0025201

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ALDH18A1 ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A
2 no effect GR00402-S-2 10.13 ATP6AP1 ATP6V1E1 ATP7A FBLN2 FBLN7 GORAB

MGI Mouse Phenotypes related to Autosomal Recessive Cutis Laxa Type Ii Classic Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.8 ALDH18A1 ATP6AP1 ATP6V1A ATP6V1E1 ATP7A EFEMP2
2 respiratory system MP:0005388 9.76 ATP7A EFEMP2 ELN FBLN1 FBLN5 FBLN7
3 integument MP:0010771 9.28 ALDH18A1 ATP6V0A2 ATP7A EFEMP2 FBLN1 FBLN5

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

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

MalaCards : 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
12.36 ATP6V1E1 ATP6V1A ATP6V0A2 ATP6AP1
2
Show member pathways
12.12 ATP7A ATP6V1E1 ATP6V1A ATP6V0A2 ATP6AP1
3
Show member pathways
12.08 LTBP4 FBLN5 FBLN2 FBLN1 ELN EFEMP2
4
Show member pathways
11.9 ATP6V1E1 ATP6V1A ATP6V0A2 ATP6AP1
5 11.5 FBLN5 FBLN2 ELN
6 11.09 FBLN2 FBLN1 ELN
7
Show member pathways
11.01 LTBP4 FBLN5 FBLN2 FBLN1 ELN EFEMP2
8
Show member pathways
10.79 PYCR2 PYCR1 ALDH18A1

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 10.1 EFEMP2 ELN FBLN1 FBLN2 FBLN5 LTBP4
2 lysosomal membrane GO:0005765 10.09 PI4K2A ATP6V1E1 ATP6V1A ATP6V0A2 ATP6AP1
3 microvillus GO:0005902 9.95 ATP7A ATP6V1E1 ATP6V1A
4 clathrin-coated vesicle membrane GO:0030665 9.85 ATP6V1E1 ATP6V1A ATP6AP1
5 microfibril GO:0001527 9.8 LTBP4 EFEMP2
6 extracellular matrix GO:0031012 9.8 LTBP4 FBLN7 FBLN5 FBLN2 FBLN1 ELN
7 vacuolar proton-transporting V-type ATPase, V1 domain GO:0000221 9.76 ATP6V1E1 ATP6V1A
8 proton-transporting V-type ATPase complex GO:0033176 9.73 ATP6V1A ATP6V0A2 ATP6AP1
9 proton-transporting two-sector ATPase complex GO:0016469 9.63 ATP6V1E1 ATP6V1A ATP6AP1
10 ATPase complex GO:1904949 9.51 ATP6V1A ATP6V0A2
11 transmembrane transporter complex GO:1902495 9.4 ATP6V1A ATP6V0A2
12 elastic fiber GO:0071953 9.23 FBLN5 FBLN1 ELN EFEMP2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 10.06 ATP6V1E1 ATP6V1A ATP6V0A2 ATP6AP1
2 extracellular matrix organization GO:0030198 10.05 FBLN2 FBLN1 ELN ATP7A
3 cellular iron ion homeostasis GO:0006879 9.97 ATP6AP1 ATP6V0A2 ATP6V1A
4 regulation of macroautophagy GO:0016241 9.95 ATP6V1E1 ATP6V1A ATP6V0A2
5 monoatomic ion transport GO:0006811 9.92 ATP7A ATP6V1E1 ATP6V1A ATP6V0A2 ATP6AP1
6 vacuolar acidification GO:0007035 9.91 ATP6AP1 ATP6V0A2 ATP6V1A
7 intracellular pH reduction GO:0051452 9.85 ATP6V1A ATP6AP1
8 Golgi lumen acidification GO:0061795 9.85 ATP6V1A ATP6V0A2 ATP6AP1
9 endosomal lumen acidification GO:0048388 9.84 ATP6V1A ATP6AP1
10 cellular response to increased oxygen levels GO:0036295 9.73 ATP6V1A ATP6V0A2 ATP6AP1
11 L-proline biosynthetic process GO:0055129 9.63 PYCR2 PYCR1 ALDH18A1
12 amino acid biosynthetic process GO:0008652 9.58 PYCR2 PYCR1 ALDH18A1
13 synaptic vesicle lumen acidification GO:0097401 9.5 ATP6V1E1 ATP6V1A ATP6AP1
14 proline biosynthetic process GO:0006561 9.43 PYCR2 PYCR1 ALDH18A1
15 elastic fiber assembly GO:0048251 9.17 LTBP4 FBLN5 EFEMP2 ATP7A

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 extracellular matrix structural constituent GO:0005201 9.65 LTBP4 FBLN2 FBLN1 ELN EFEMP2
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.63 ATP6V1E1 ATP6V1A ATP6V0A2
3 pyrroline-5-carboxylate reductase activity GO:0004735 9.56 PYCR2 PYCR1
4 extracellular matrix constituent conferring elasticity GO:0030023 9.1 FBLN5 FBLN2 ELN

Sources for Autosomal Recessive Cutis Laxa Type Ii Classic Type

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