ARCL3B
MCID: CTS032
MIFTS: 39

Cutis Laxa, Autosomal Recessive, Type Iiib (ARCL3B)

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, Respiratory diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Iiib

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Iiib:

Name: Cutis Laxa, Autosomal Recessive, Type Iiib 57 71
Pycr1-Related De Barsy Syndrome 58 28 5
De Barsy Syndrome B 57 11 73
Arcl3b 57 11 73
Autosomal Recessive Cutis Laxa Type Iiib 11 14
Pyrroline-5-Carboxylate Reductase 1 Deficiency 58
Cutis Laxa Autosomal Recessive Type Iiib 73
Cutis Laxa, Autosomal Recessive, Type 3b 38
Cutis Laxa, Autosomal Recessive, 3b 73
Pycr1 Deficiency 58

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:

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


Summaries for Cutis Laxa, Autosomal Recessive, Type Iiib

OMIM®: 57 De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see 219150. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219200. (614438) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iiib, also known as pycr1-related de barsy syndrome, is related to cutis laxa and cutis laxa, autosomal dominant 3. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iiib is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are superpathway of L-citrulline metabolism and Amino acid metabolism. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and osteopenia

UniProtKB/Swiss-Prot: 73 A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa.

Disease Ontology: 11 An autosomal recessive cutis laxa type III that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iiib

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid
Cutis Laxa, Autosomal Recessive, Type Iie Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa Eln-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

Diseases related to Cutis Laxa, Autosomal Recessive, Type Iiib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 28.4 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
2 cutis laxa, autosomal dominant 3 10.0 PYCR1 ALDH18A1
3 leukodystrophy, hypomyelinating, 10 10.0 PYCR1 ALDH18A1
4 immunodeficiency 47 9.8 PYCR1 ATP6V0A2 ALDH18A1
5 bladder diverticulum 9.7 LTBP4 EFEMP2
6 congenital disorder of glycosylation, type in 9.7 GORAB ATP6V0A2
7 arterial tortuosity syndrome 9.7 LTBP4 EFEMP2
8 geleophysic dysplasia 9.6 LTBP4 EFEMP2
9 supravalvular aortic stenosis 9.6 LTBP4 EFEMP2
10 loeys-dietz syndrome 9.6 LTBP4 EFEMP2
11 diaphragmatic hernia, congenital 9.5 LTBP4 EFEMP2
12 cutis laxa, autosomal recessive, type iid 9.5 RIN2 GORAB ATP6V0A2 ALDH18A1
13 inguinal hernia 9.3 PYCR1 LTBP4 EFEMP2 ATP6V0A2
14 cutis laxa, autosomal recessive, type ia 9.2 LTBP4 EFEMP2 ATP6V0A2 ALDH18A1
15 wrinkly skin syndrome 9.2 PYCR1 GORAB EFEMP2 ATP6V0A2 ALDH18A1
16 cutis laxa, autosomal dominant 1 9.1 PYCR1 LTBP4 EFEMP2 ATP6V0A2 ALDH18A1
17 cutis laxa, autosomal recessive, type iiia 9.0 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
18 cutis laxa, autosomal recessive, type ic 8.8 RIN2 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
19 occipital horn syndrome 8.8 RIN2 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
20 autosomal recessive cutis laxa type i 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
21 autosomal recessive cutis laxa type iii 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
22 autosomal recessive cutis laxa type ii classic type 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
23 cutis laxa, autosomal recessive, type ib 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
24 cutis laxa, autosomal recessive, type iib 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
25 geroderma osteodysplasticum 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
26 cutis laxa, autosomal recessive, type iia 8.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2

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



Diseases related to Cutis Laxa, Autosomal Recessive, Type Iiib

Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Iiib

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iiib:

30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 osteopenia 30 Very rare (1%) HP:0000938
3 cataract 30 Very rare (1%) HP:0000518
4 inguinal hernia 30 Very rare (1%) HP:0000023
5 hypertelorism 30 Very rare (1%) HP:0000316
6 delayed speech and language development 30 Very rare (1%) HP:0000750
7 pes planus 30 Very rare (1%) HP:0001763
8 prominent forehead 30 Very rare (1%) HP:0011220
9 cryptorchidism 30 Very rare (1%) HP:0000028
10 osteoporosis 30 Very rare (1%) HP:0000939
11 intrauterine growth retardation 30 Very rare (1%) HP:0001511
12 elbow flexion contracture 30 Very rare (1%) HP:0002987
13 deeply set eye 30 Very rare (1%) HP:0000490
14 fine hair 30 Very rare (1%) HP:0002213
15 hip dislocation 30 Very rare (1%) HP:0002827
16 large fontanelles 30 Very rare (1%) HP:0000239
17 pyloric stenosis 30 Very rare (1%) HP:0002021
18 thin vermilion border 30 Very rare (1%) HP:0000233
19 blue sclerae 30 Very rare (1%) HP:0000592
20 underdeveloped nasal alae 30 Very rare (1%) HP:0000430
21 sparse hair 30 Very rare (1%) HP:0008070
22 posteriorly rotated ears 30 Very rare (1%) HP:0000358
23 athetosis 30 Very rare (1%) HP:0002305
24 cutis laxa 30 Very rare (1%) HP:0000973
25 excessive wrinkled skin 30 Very rare (1%) HP:0007392
26 thin skin 30 Very rare (1%) HP:0000963
27 developmental glaucoma 30 Very rare (1%) HP:0001087
28 narrow palpebral fissure 30 Very rare (1%) HP:0045025
29 dermal translucency 30 Very rare (1%) HP:0010648
30 prominent superficial veins 30 Very rare (1%) HP:0001015
31 narrow nasal ridge 30 Very rare (1%) HP:0000418
32 prominent ear helix 30 Very rare (1%) HP:0009904
33 triangular face 30 HP:0000325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
agenesis of corpus callosum
developmental delay
athetoid movements
impaired intellectual development (variable)

Skeletal:
osteopenia

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
prominent forehead
triangular face
prognathism
malar hypoplasia
progeroid appearance

Growth Other:
intrauterine growth retardation

Skeletal Hands:
joint hypermobility
finger contractures

Head And Neck Ears:
dysplastic ears
large ears

Cardiovascular Vascular:
aortic root dilation

Skin Nails Hair Skin:
lax, wrinkled skin
congenital skin wrinkling (esp. dorsum of hands and feet)
prominent cutaneous venous pattern

Skin Nails Hair Skin Electron Microscopy:
marked reduction elastic fiber size

Skeletal Spine:
scoliosis

Head And Neck Eyes:
cataract
glaucoma
blue sclerae
deep-set eyes

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Pelvis:
congenital hip dislocation

Skeletal Feet:
joint hypermobility

Head And Neck Mouth:
thin lips

Head And Neck Nose:
pinched nose

Skin Nails Hair Skin Histology:
sparse, thinned and fragmented elastic fibers in reticular dermis

Clinical features from OMIM®:

614438 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iiib:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ALDH18A1 ATP6V0A2 EFEMP2 GORAB LTBP4

Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Iiib

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

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iiib

Genetic tests related to Cutis Laxa, Autosomal Recessive, Type Iiib:

# Genetic test Affiliating Genes
1 Pycr1-Related De Barsy Syndrome 28 PYCR1

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iiib

Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iiib:

MalaCards : Skin, Eye

Publications for Cutis Laxa, Autosomal Recessive, Type Iiib

Articles related to Cutis Laxa, Autosomal Recessive, Type Iiib:

# Title Authors PMID Year
1
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 57 5
22052856 2011
2
Mutations in PYCR1 cause cutis laxa with progeroid features. 57 5
19648921 2009
3
De Barsy syndrome--an autosomal recessive, progeroid syndrome. 57 5
4076251 1985
4
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder. 62
30574417 2018
5
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 62
28409271 2017
6
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. 62
21487760 2011

Variations for Cutis Laxa, Autosomal Recessive, Type Iiib

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iiib:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PYCR1 NM_006907.4(PYCR1):c.752G>A (p.Arg251His) SNV Pathogenic
13198 rs121918378 GRCh37: 17:79892247-79892247
GRCh38: 17:81934371-81934371
2 PYCR1 NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) SNV Pathogenic
29863 rs281875318 GRCh37: 17:79892230-79892230
GRCh38: 17:81934354-81934354
3 PYCR1 NM_006907.4(PYCR1):c.345del (p.Arg116fs) DEL Pathogenic
29864 rs758601634 GRCh37: 17:79892997-79892997
GRCh38: 17:81935121-81935121
4 PYCR1 NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) SNV Pathogenic
29865 rs281875319 GRCh37: 17:79892256-79892256
GRCh38: 17:81934380-81934380
5 PYCR1 NM_006907.4(PYCR1):c.356G>A (p.Arg119His) SNV Pathogenic
13197 rs121918377 GRCh37: 17:79892986-79892986
GRCh38: 17:81935110-81935110
6 PYCR1 NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) SNV Uncertain Significance
973232 rs763349891 GRCh37: 17:79892603-79892603
GRCh38: 17:81934727-81934727
7 PYCR1 NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) SNV Uncertain Significance
282265 rs147653673 GRCh37: 17:79893008-79893008
GRCh38: 17:81935132-81935132

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iiib:

73
# Symbol AA change Variation ID SNP ID
1 PYCR1 p.Arg251His VAR_059074 rs121918378
2 PYCR1 p.Ala257Thr VAR_059075 rs281875318
3 PYCR1 p.Gly248Glu VAR_067600 rs281875319

Expression for Cutis Laxa, Autosomal Recessive, Type Iiib

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

Pathways for Cutis Laxa, Autosomal Recessive, Type Iiib

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iiib

Cellular components related to Cutis Laxa, Autosomal Recessive, Type Iiib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfibril GO:0001527 8.92 LTBP4 EFEMP2

Biological processes related to Cutis Laxa, Autosomal Recessive, Type Iiib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 elastic fiber assembly GO:0048251 9.33 LTBP4 EFEMP2
2 amino acid biosynthetic process GO:0008652 9.26 PYCR1 ALDH18A1
3 L-proline biosynthetic process GO:0055129 9.26 PYCR1 ALDH18A1
4 proline biosynthetic process GO:0006561 8.92 PYCR1 ALDH18A1

Sources for Cutis Laxa, Autosomal Recessive, Type Iiib

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
Content
Loading form....