ARCL3B
MCID: CTS032
MIFTS: 37

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, Skin diseases

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 56 13 71
De Barsy Syndrome B 56 12 73
Arcl3b 56 12 73
Autosomal Recessive Cutis Laxa Type Iiib 12 15
Autosomal Recessive Cutis Laxa Type 3b 29 6
Pyrroline-5-Carboxylate Reductase 1 Deficiency 58
Cutis Laxa Autosomal Recessive Type Iiib 73
Cutis Laxa, Autosomal Recessive, Type 3b 39
Cutis Laxa, Autosomal Recessive, 3b 73
Pycr1-Related De Barsy Syndrome 58
Pycr1 Deficiency 58

Characteristics:

HPO:

31
cutis laxa, autosomal recessive, type iiib:
Inheritance autosomal recessive inheritance


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 : 56 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)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iiib, also known as de barsy syndrome b, is related to cutis laxa and geroderma osteodysplasticum. 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 Carbon metabolism and Amino Acid metabolism. Affiliated tissues include skin, eye and bone, and related phenotypes are hypertelorism and intellectual disability

Disease Ontology : 12 An autosomal recessive cutis laxa type III that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.

UniProtKB/Swiss-Prot : 73 Cutis laxa, autosomal recessive, 3B: A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa.

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
Autosomal Recessive Cutis Laxa Type Iii Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa Autosomal Recessive Cutis Laxa Type 2

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 27.9 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1
2 geroderma osteodysplasticum 9.8 PYCR1 GORAB
3 cutis laxa, autosomal dominant 1 9.5 EFEMP2 ALDH18A1
4 aortic aneurysm, familial thoracic 1 9.5 LTBP4 EFEMP2
5 loeys-dietz syndrome 9.2 LTBP4 EFEMP2
6 arterial tortuosity syndrome 9.2 LTBP4 GORAB EFEMP2
7 autosomal recessive cutis laxa type i 8.8 LTBP4 GORAB EFEMP2 ALDH18A1
8 cutis laxa, autosomal recessive, type iiia 8.8 PYCR1 LTBP4 GORAB ALDH18A1
9 cutis laxa, autosomal recessive, type ib 8.8 LTBP4 GORAB EFEMP2 ALDH18A1
10 cutis laxa, autosomal recessive, type ic 8.7 LTBP4 GORAB EFEMP2 ALDH18A1
11 autosomal recessive cutis laxa type iii 8.5 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1
12 cutis laxa, autosomal recessive, type iia 8.5 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1
13 cutis laxa, autosomal recessive, type ia 8.4 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1
14 cutis laxa, autosomal recessive, type iib 8.4 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1
15 autosomal recessive cutis laxa type ii classic type 8.4 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 intellectual disability 31 HP:0001249
3 inguinal hernia 31 HP:0000023
4 delayed speech and language development 31 HP:0000750
5 cryptorchidism 31 HP:0000028
6 prominent forehead 31 HP:0011220
7 thin skin 31 HP:0000963
8 elbow flexion contracture 31 HP:0002987
9 posteriorly rotated ears 31 HP:0000358
10 thin vermilion border 31 HP:0000233
11 fine hair 31 HP:0002213
12 blepharophimosis 31 HP:0000581
13 large fontanelles 31 HP:0000239
14 blue sclerae 31 HP:0000592
15 sparse hair 31 HP:0008070
16 excessive wrinkled skin 31 HP:0007392
17 dermal translucency 31 HP:0010648
18 cutis laxa 31 HP:0000973
19 narrow nasal ridge 31 HP:0000418
20 developmental glaucoma 31 HP:0001087

Clinical features from OMIM:

614438

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ALDH18A1 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 Autosomal Recessive Cutis Laxa Type 3b 29 PYCR1

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iiib

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

40
Skin, Eye, Bone

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. 56 6
22052856 2011
2
Mutations in PYCR1 cause cutis laxa with progeroid features. 56 6
19648921 2009
3
De Barsy syndrome--an autosomal recessive, progeroid syndrome. 56 6
4076251 1985
4
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 61
28409271 2017
5
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. 61
21487760 2011

Variations for Cutis Laxa, Autosomal Recessive, Type Iiib

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

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

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

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.16 PYCR1 ALDH18A1
2 L-proline biosynthetic process GO:0055129 8.96 PYCR1 ALDH18A1
3 proline biosynthetic process GO:0006561 8.62 PYCR1 ALDH18A1

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Iiib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 LTBP4 EFEMP2

Sources for Cutis Laxa, Autosomal Recessive, Type Iiib

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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