ARCL2
MCID: ATS451
MIFTS: 24

Autosomal Recessive Cutis Laxa Type 2 (ARCL2)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Recessive Cutis Laxa Type 2

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type 2:

Name: Autosomal Recessive Cutis Laxa Type 2 58
Cutis Laxa with Joint Laxity and Developmental Delay 58
Arcl2 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cutis laxa type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

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


Summaries for Autosomal Recessive Cutis Laxa Type 2

MalaCards based summary : Autosomal Recessive Cutis Laxa Type 2, also known as cutis laxa with joint laxity and developmental delay, is related to cutis laxa, autosomal recessive, type iia and cutis laxa, autosomal recessive, type iib. An important gene associated with Autosomal Recessive Cutis Laxa Type 2 is PYCR1 (Pyrroline-5-Carboxylate Reductase 1). Affiliated tissues include skin, bone and eye, and related phenotypes are low-set ears and macrotia

Related Diseases for Autosomal Recessive Cutis Laxa Type 2

Graphical network of the top 20 diseases related to Autosomal Recessive Cutis Laxa Type 2:



Diseases related to Autosomal Recessive Cutis Laxa Type 2

Symptoms & Phenotypes for Autosomal Recessive Cutis Laxa Type 2

Human phenotypes related to Autosomal Recessive Cutis Laxa Type 2:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
3 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
10 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
11 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
12 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
13 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
14 premature skin wrinkling 58 31 hallmark (90%) Very frequent (99-80%) HP:0100678
15 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
16 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
17 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
18 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
19 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
20 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
21 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
22 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
23 congenital hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001374
24 ectropion 58 31 frequent (33%) Frequent (79-30%) HP:0000656
25 entropion 58 31 frequent (33%) Frequent (79-30%) HP:0000621
26 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
27 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
28 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
29 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
30 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
31 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
32 hernia 58 Frequent (79-30%)
33 growth delay 58 Very frequent (99-80%)
34 cutis laxa 58 Very frequent (99-80%)

Drugs & Therapeutics for Autosomal Recessive Cutis Laxa Type 2

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Cutis Laxa Type 2

Genetic Tests for Autosomal Recessive Cutis Laxa Type 2

Anatomical Context for Autosomal Recessive Cutis Laxa Type 2

MalaCards organs/tissues related to Autosomal Recessive Cutis Laxa Type 2:

40
Skin, Bone, Eye

Publications for Autosomal Recessive Cutis Laxa Type 2

Articles related to Autosomal Recessive Cutis Laxa Type 2:

# Title Authors PMID Year
1
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 61
26516448 2015
2
Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. 61
23531708 2013
3
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 61
22773132 2012
4
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. 61
22611120 2012
5
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 61
21204221 2011
6
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 61
19576563 2009
7
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 61
19321599 2009

Variations for Autosomal Recessive Cutis Laxa Type 2

Expression for Autosomal Recessive Cutis Laxa Type 2

Search GEO for disease gene expression data for Autosomal Recessive Cutis Laxa Type 2.

Pathways for Autosomal Recessive Cutis Laxa Type 2

GO Terms for Autosomal Recessive Cutis Laxa Type 2

Sources for Autosomal Recessive Cutis Laxa Type 2

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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