MCID: ATS391
MIFTS: 35

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

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

Name: Autosomal Recessive Cutis Laxa Type Ii Classic Type 12 15
Arcl2, Classic Type 12 58
Arcl2, Debre Type 12 58
Autosomal Recessive Cutis Laxa Type 2, Classic Type 58
Autosomal Recessive Cutis Laxa Type 2, Debre Type 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 : 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 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 Degradation of the extracellular matrix and Insulin receptor recycling. Affiliated tissues include 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 top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iid 31.7 RIN2 LTBP4 GORAB ATP6V1E1 ATP6V1A ATP6V0A2
2 cutis laxa, autosomal recessive, type iia 31.0 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
3 cutis laxa, autosomal recessive, type iic 11.5
4 wrinkly skin syndrome 10.3 PYCR1 ATP6V0A2
5 spastic paraplegia 9b, autosomal recessive 10.2 PYCR1 ALDH18A1
6 spastic paraplegia 9a, autosomal dominant 10.2 PYCR1 ALDH18A1
7 acquired cutis laxa 10.1 FBLN5 ELN
8 macs syndrome 10.1 RIN2 FBLN5
9 proximal spinal muscular atrophy 10.1 RAB6A FBLN5
10 congenital disorder of glycosylation, type iip 10.1 CCDC115 ATP6V0A2
11 congenital disorder of glycosylation, type iio 10.1 CCDC115 ATP6V0A2
12 leukodystrophy, hypomyelinating, 10 10.0 PYCR2 PYCR1 ALDH18A1
13 progeroid syndrome 10.0 PYCR1 FBN1
14 hyperprolinemia 10.0 PYCR2 PYCR1 ALDH18A1
15 tricuspid valve prolapse 10.0 FBN1 FBLN5 EFEMP2
16 fbln5-related cutis laxa 10.0 FBLN5 ELN EFEMP2
17 late-onset focal dermal elastosis 10.0 FBN1 ELN
18 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.0 FBN1 ELN
19 loeys-dietz syndrome 3 10.0 FBN1 EFEMP2
20 familial abdominal aortic aneurysm 10.0 FBN1 ELN
21 chronic actinic dermatitis 10.0 FBN1 ELN
22 hemopericardium 10.0 FBN1 ELN
23 cutis laxa, autosomal recessive, type iiia 9.9 RIN2 PYCR1 GORAB ATP6V0A2 ALDH18A1
24 diaphragmatic eventration 9.9 LTBP4 FBN1
25 ehlers-danlos syndrome, vascular type 9.9 FBN1 ELN
26 mid-dermal elastolysis 9.9 FBN1 FBLN5 ELN
27 aortic valve insufficiency 9.9 FBN1 ELN EFEMP2
28 phacogenic glaucoma 9.9 FBN1 FBLN5 ELN
29 neu-laxova syndrome 2 9.9 ELN ALDH18A1
30 pelvic organ prolapse 9.8 FBN1 FBLN5 ELN
31 pneumothorax 9.8 FBN1 FBLN5 ELN
32 costello syndrome 9.8 FBN1 FBLN5 ELN
33 diaphragmatic hernia, congenital 9.8 FBN1 ELN EFEMP2
34 immunodeficiency 47 9.8 COG7 CCDC115 ATP6V1A ATP6V0A2
35 congenital disorder of glycosylation, type in 9.8 GORAB COG7 CCDC115 ATP6V0A2
36 aortic aneurysm, familial abdominal, 1 9.8 FBN1 ELN EFEMP2
37 inguinal hernia 9.8 FBN1 FBLN5 ELN
38 cutis laxa, autosomal dominant 2 9.8 FBLN5 ELN
39 cutis laxa, autosomal recessive, type iiib 9.7 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
40 ureteric orifice cancer 9.7 FBN1 FBLN5 ELN EFEMP2
41 supravalvular aortic stenosis 9.7 FBN1 FBLN5 ELN EFEMP2
42 aortic aneurysm, familial thoracic 1 9.7 FBN1 FBLN5 ELN EFEMP2
43 aortic aneurysm 9.7 FBN1 FBLN5 ELN EFEMP2
44 aneurysm 9.7 FBN1 FBLN5 ELN EFEMP2
45 aortic dissection 9.7 FBN1 FBLN5 ELN EFEMP2
46 arterial tortuosity syndrome 9.6 LTBP4 FBN1 FBLN5 ELN EFEMP2
47 loeys-dietz syndrome 9.6 LTBP4 FBN1 FBLN5 ELN EFEMP2
48 cutis laxa, autosomal dominant 1 9.6 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
49 scoliosis 9.5 RIN2 LTBP4 FBN1 FBLN5 ELN
50 bladder diverticulum 9.5 LTBP4 FBLN5 ELN EFEMP2 ATP7A ATP6V0A2

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 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed closure of the anterior fontanelle 58 31 obligate (100%) Obligate (100%) HP:0001476
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
6 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
7 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
8 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
9 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
10 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
11 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
12 decreased muscle mass 58 31 hallmark (90%) Very frequent (99-80%) HP:0003199
13 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
14 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
15 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
16 lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009125
17 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
18 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
19 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
20 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
21 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
22 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
23 thick hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0100874
24 intellectual disability, profound 58 31 hallmark (90%) Very frequent (99-80%) HP:0002187
25 abnormal subcutaneous fat tissue distribution 58 31 hallmark (90%) Very frequent (99-80%) HP:0007552
26 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
27 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
28 psychomotor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002361
29 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
30 high myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011003
31 redundant neck skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0005989
32 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
33 generalized joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002761
34 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
35 prominent veins on trunk 58 31 hallmark (90%) Very frequent (99-80%) HP:0007457
36 progressive microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000253
37 fragmented elastic fibers in the dermis 58 31 hallmark (90%) Very frequent (99-80%) HP:0025167
38 prominent nasolabial fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0005272
39 abnormal isoelectric focusing of serum transferrin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003160
40 thick cerebral cortex 58 31 hallmark (90%) Very frequent (99-80%) HP:0006891
41 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
42 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
43 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
44 congenital hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001374
45 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
46 subretinal pigment epithelium hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0025244
47 polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0002126
48 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
49 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
50 seizure 31 frequent (33%) HP:0001250

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 viability GR00240-S-1 9.62 COG7
2 Decreased viability GR00249-S 9.62 ATP7A EFEMP2 GORAB PYCR2
3 Decreased viability GR00381-A-1 9.62 PYCR2
4 Decreased viability GR00386-A-1 9.62 ATP6V1A ATP7A COG7 EFEMP2 ELN GORAB
5 Decreased viability GR00402-S-2 9.62 ALDH18A1 ATP6V0A2 ATP6V1A EFEMP2 ELN FBLN5

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 ALDH18A1 ATP6V0A2 ATP7A EFEMP2 FBLN5 FBN1

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:

40
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
12.48 LTBP4 FBN1 FBLN5 ELN EFEMP2
2
Show member pathways
12.21 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
3
Show member pathways
12.15 ATP7A ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
4 11.85 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
5
Show member pathways
11.57 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
6
Show member pathways
11.34 PYCR2 PYCR1 ALDH18A1
7 11.23 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
8
Show member pathways
11.11 PYCR2 PYCR1 ALDH18A1
9
Show member pathways
10.88 LTBP4 FBN1 FBLN5 ELN EFEMP2
10
Show member pathways
10.86 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:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.72 LTBP4 FBN1 FBLN5 ELN EFEMP2
2 extracellular matrix GO:0031012 9.65 LTBP4 FBN1 FBLN5 ELN EFEMP2
3 microvillus GO:0005902 9.58 ATP7A ATP6V1E1 ATP6V1A
4 proton-transporting two-sector ATPase complex GO:0016469 9.37 ATP6V1E1 ATP6V1A
5 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.33 CCDC115 ATP6V1G3 ATP6V0A2
6 microfibril GO:0001527 9.13 LTBP4 FBN1 EFEMP2
7 elastic fiber GO:0071953 8.8 FBLN5 ELN EFEMP2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 ATP7A ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
2 ion transmembrane transport GO:0034220 9.85 ATP7A ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
3 extracellular matrix organization GO:0030198 9.83 FBN1 FBLN5 ELN ATP7A
4 proton transmembrane transport GO:1902600 9.73 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
5 insulin receptor signaling pathway GO:0008286 9.71 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
6 regulation of macroautophagy GO:0016241 9.69 ATP6V1E1 ATP6V1A ATP6V0A2
7 cellular iron ion homeostasis GO:0006879 9.67 CCDC115 ATP6V1A ATP6V0A2
8 cellular amino acid biosynthetic process GO:0008652 9.65 PYCR2 PYCR1 ALDH18A1
9 hair follicle morphogenesis GO:0031069 9.56 GORAB ATP7A
10 transferrin transport GO:0033572 9.56 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
11 protein localization to Golgi apparatus GO:0034067 9.55 RAB6A COG7
12 L-proline biosynthetic process GO:0055129 9.54 PYCR2 PYCR1 ALDH18A1
13 cellular response to increased oxygen levels GO:0036295 9.5 CCDC115 ATP6V1A ATP6V0A2
14 proline biosynthetic process GO:0006561 9.33 PYCR2 PYCR1 ALDH18A1
15 phagosome acidification GO:0090383 9.26 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
16 elastic fiber assembly GO:0048251 8.92 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 integrin binding GO:0005178 9.54 LTBP4 FBN1 FBLN5
2 ATPase binding GO:0051117 9.5 ATP6V1G3 ATP6V1E1 ATP6V0A2
3 extracellular matrix structural constituent GO:0005201 9.46 LTBP4 FBN1 ELN EFEMP2
4 pyrroline-5-carboxylate reductase activity GO:0004735 9.26 PYCR2 PYCR1
5 extracellular matrix constituent conferring elasticity GO:0030023 9.13 FBN1 FBLN5 ELN
6 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.92 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2

Sources for Autosomal Recessive Cutis Laxa Type Ii Classic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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