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

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 skin, bone and cortex, and related phenotypes are delayed closure of the anterior fontanelle and global developmental delay

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 53)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iid 31.2 RIN2 LTBP4 GORAB ATP6V1G3 ATP6V1E1 ATP6V1A
2 cutis laxa, autosomal recessive, type iia 30.6 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
3 cutis laxa, autosomal recessive, type iic 11.6
4 spastic paraplegia 9b, autosomal recessive 10.2 PYCR1 ALDH18A1
5 spastic paraplegia 9a, autosomal dominant 10.2 PYCR1 ALDH18A1
6 congenital disorder of glycosylation, type iio 10.1 CCDC115 ATP6V1E1
7 macs syndrome 10.1 RIN2 FBLN5
8 leukodystrophy, hypomyelinating, 10 10.1 PYCR2 PYCR1
9 proximal spinal muscular atrophy 10.1 RAB6A FBLN5
10 congenital disorder of glycosylation, type iip 10.1 CCDC115 ATP6V1E1
11 borderline glaucoma 10.1 PYCR2 PYCR1 GORAB
12 acquired cutis laxa 10.1 FBLN5 ELN
13 fbln5-related cutis laxa 10.1 FBLN5 ELN
14 loeys-dietz syndrome 3 10.0 FBN1 EFEMP2
15 tricuspid valve prolapse 10.0 FBN1 FBLN5 EFEMP2
16 late-onset focal dermal elastosis 9.9 FBN1 ELN
17 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.9 FBN1 ELN
18 diaphragmatic eventration 9.9 LTBP4 FBN1
19 chronic actinic dermatitis 9.9 FBN1 ELN
20 familial abdominal aortic aneurysm 9.8 FBN1 ELN
21 doyne honeycomb retinal dystrophy 9.8 FBLN5 EFEMP2
22 neu-laxova syndrome 2 9.8 PYCR1 ELN ALDH18A1
23 immunodeficiency 47 9.8 COG7 CCDC115 ATP6V0A2
24 congenital disorder of glycosylation, type in 9.7 GORAB COG7 CCDC115 ATP6V0A2
25 mid-dermal elastolysis 9.7 FBN1 FBLN5 ELN
26 aortic valve insufficiency 9.7 FBN1 ELN EFEMP2
27 phacogenic glaucoma 9.7 FBN1 FBLN5 ELN
28 pelvic organ prolapse 9.6 FBN1 FBLN5 ELN
29 costello syndrome 9.6 FBN1 FBLN5 ELN
30 cutis laxa, autosomal recessive, type iiib 9.6 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
31 pneumothorax 9.6 FBN1 FBLN5 ELN
32 inguinal hernia 9.6 FBN1 FBLN5 ELN
33 patent foramen ovale 9.5 LTBP4 FBN1 ELN
34 ureteric orifice cancer 9.5 FBN1 FBLN5 ELN EFEMP2
35 supravalvular aortic stenosis 9.5 FBN1 FBLN5 ELN EFEMP2
36 aortic aneurysm, familial thoracic 1 9.5 FBN1 FBLN5 ELN EFEMP2
37 aortic aneurysm 9.5 FBN1 FBLN5 ELN EFEMP2
38 loeys-dietz syndrome 9.5 FBN1 FBLN5 ELN EFEMP2
39 cutis laxa, autosomal recessive, type iiia 9.5 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
40 bladder diverticulum 9.4 LTBP4 ELN EFEMP2 ATP7A ATP6V0A2
41 arterial tortuosity syndrome 9.3 LTBP4 FBN1 FBLN5 ELN EFEMP2
42 cutis laxa, autosomal dominant 1 9.3 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
43 scoliosis 9.2 RIN2 LTBP4 FBN1 FBLN5 ELN
44 cutis laxa, autosomal recessive, type ib 9.2 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
45 cutis laxa, autosomal recessive, type ic 9.2 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
46 connective tissue disease 9.0 FBN1 FBLN5 ELN ATP7A
47 autosomal recessive cutis laxa type iii 8.9 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5
48 cutis laxa, autosomal recessive, type ia 8.7 RIN2 PYCR1 LTBP4 GORAB FBN1 FBLN5
49 cutis laxa, autosomal recessive, type iib 8.7 RIN2 RAB6A PYCR2 PYCR1 LTBP4 GORAB
50 occipital horn syndrome 8.6 RIN2 LTBP4 GORAB FBLN5 ELN EFEMP2

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 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed closure of the anterior fontanelle 58 31 obligate (100%) Obligate (100%) HP:0001476
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
8 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
9 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
11 decreased muscle mass 58 31 hallmark (90%) Very frequent (99-80%) HP:0003199
12 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
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 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
16 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
17 lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009125
18 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
19 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
20 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
21 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
22 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
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 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
42 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
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 abnormal apolipoprotein level 58 31 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 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:

45
# 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
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
12.48 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 11.8 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
11.17 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 cell GO:0005623 9.88 CCDC115 ATP7A ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
2 extracellular matrix GO:0031012 9.67 LTBP4 FBN1 FBLN5 ELN
3 collagen-containing extracellular matrix GO:0062023 9.55 LTBP4 FBN1 FBLN5 ELN EFEMP2
4 microvillus GO:0005902 9.5 ATP7A ATP6V1E1 ATP6V1A
5 proton-transporting two-sector ATPase complex GO:0016469 9.26 ATP6V1E1 ATP6V1A
6 elastic fiber GO:0071953 8.96 FBLN5 ELN
7 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.8 CCDC115 ATP6V1G3 ATP6V0A2

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 extracellular matrix organization GO:0030198 9.83 FBN1 FBLN5 ELN ATP7A
3 ion transmembrane transport GO:0034220 9.83 ATP7A ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
4 proton transmembrane transport GO:1902600 9.76 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 protein localization to Golgi apparatus GO:0034067 9.55 RAB6A COG7
11 elastic fiber assembly GO:0048251 9.54 FBLN5 EFEMP2 ATP7A
12 L-proline biosynthetic process GO:0055129 9.5 PYCR2 PYCR1 ALDH18A1
13 transferrin transport GO:0033572 9.46 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2
14 cellular response to increased oxygen levels GO:0036295 9.43 CCDC115 ATP6V1A ATP6V0A2
15 proline biosynthetic process GO:0006561 9.13 PYCR2 PYCR1 ALDH18A1
16 phagosome acidification GO:0090383 8.92 ATP6V1G3 ATP6V1E1 ATP6V1A ATP6V0A2

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 9.58 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 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.37 ATP6V1G3 ATP6V1E1
5 pyrroline-5-carboxylate reductase activity GO:0004735 9.26 PYCR2 PYCR1
6 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.13 ATP6V1E1 ATP6V1A ATP6V0A2
7 extracellular matrix constituent conferring elasticity GO:0030023 8.8 FBN1 FBLN5 ELN

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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