ARCL2
MCID: ATS451
MIFTS: 22

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, 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 59
Cutis Laxa with Joint Laxity and Developmental Delay 59
Arcl2 59

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0432337
Orphanet 59 ORPHA90350

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 and bone, and related phenotypes are low-set ears and mandibular prognathia

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:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
3 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
4 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
8 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
9 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
10 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
11 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
12 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
13 delayed cranial suture closure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000270
14 premature skin wrinkling 59 32 hallmark (90%) Very frequent (99-80%) HP:0100678
15 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
16 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
17 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
18 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
19 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
20 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
21 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
22 congenital hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001374
23 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
24 ectropion 59 32 frequent (33%) Frequent (79-30%) HP:0000656
25 entropion 59 32 frequent (33%) Frequent (79-30%) HP:0000621
26 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
27 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
28 abnormality of the cardiovascular system 59 32 occasional (7.5%) Occasional (29-5%) HP:0001626
29 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
30 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
31 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
32 hernia 59 Frequent (79-30%)
33 growth delay 59 Very frequent (99-80%)
34 cutis laxa 59 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:

41
Skin, Bone

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. 38
26516448 2015
2
Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. 38
23531708 2013
3
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 38
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. 38
22611120 2012
5
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 38
21204221 2011
6
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 38
19576563 2009
7
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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