MCID: DBR002
MIFTS: 38

De Barsy Syndrome

Categories: Rare diseases, Mental diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for De Barsy Syndrome

MalaCards integrated aliases for De Barsy Syndrome:

Name: De Barsy Syndrome 49 55 69
Progeroid Syndrome, De Barsy Type 49 55
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 55
Corneal Clouding, Cutis Laxa and Mental Retardation 49
Cutis Laxa Growth Deficiency Syndrome 49
Progeroid Syndrome of De Barsy 49

Characteristics:

Orphanet epidemiological data:

55
de barsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



Summaries for De Barsy Syndrome

NIH Rare Diseases : 49 De Barsy syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity. The specific symptoms and the severity of De Barsy syndrome can vary greatly. Features that may be seen include eye abnormalities, growth abnormalities, and a prematurely-aged appearance. Distinctive facial features, skeletal malformations, and neurological abnormalities may also occur. Some cases of De Barsy syndrome have been linked to mutations in either the PYCR1 or ALDH18A1 genes. De Barsy syndrome is inherited in an autosomal recessive manner. There are no standardized treatment protocols; treatment generally focuses on the signs and symptoms present in each individual. Last updated: 10/20/2016

MalaCards based summary : De Barsy Syndrome, also known as progeroid syndrome, de barsy type, is related to cutis laxa and cutis laxa, autosomal recessive, type iiia, and has symptoms including nasal speech, talipes equinovarus and premature rupture of membranes. An important gene associated with De Barsy Syndrome is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are Carbon metabolism and Amino Acid metabolism. Affiliated tissues include skin, eye and bone.

Related Diseases for De Barsy Syndrome

Diseases related to De Barsy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cutis laxa 29.3 ALDH18A1 PYCR1
2 cutis laxa, autosomal recessive, type iiia 12.2
3 cutis laxa, autosomal recessive, type iiib 11.9
4 cutis laxa, autosomal recessive, type ia 11.1
5 cutis laxa, autosomal recessive, type iia 11.1
6 ehlers-danlos syndrome 9.9
7 geroderma osteodysplastica 9.9

Graphical network of the top 20 diseases related to De Barsy Syndrome:



Diseases related to De Barsy Syndrome

Symptoms & Phenotypes for De Barsy Syndrome

Human phenotypes related to De Barsy Syndrome:

55 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nasal speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001611
2 talipes equinovarus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001762
3 premature rupture of membranes 55 31 hallmark (90%) Very frequent (99-80%) HP:0001788
4 talipes calcaneovalgus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001884
5 athetosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002305
6 wormian bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0002645
7 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
8 kyphoscoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002751
9 generalized joint laxity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002761
10 coxa vara 55 31 hallmark (90%) Very frequent (99-80%) HP:0002812
11 decreased muscle mass 55 31 hallmark (90%) Very frequent (99-80%) HP:0003199
12 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
13 prominent nasolabial fold 55 31 hallmark (90%) Very frequent (99-80%) HP:0005272
14 progeroid facial appearance 55 31 hallmark (90%) Very frequent (99-80%) HP:0005328
15 recurrent sinopulmonary infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0005425
16 prominent veins on trunk 55 31 hallmark (90%) Very frequent (99-80%) HP:0007457
17 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
18 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
19 postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008897
20 infantile muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008947
21 lipodystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009125
22 large earlobe 55 31 hallmark (90%) Very frequent (99-80%) HP:0009748
23 dermal translucency 55 31 hallmark (90%) Very frequent (99-80%) HP:0010648
24 prominent forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0011220
25 fragmented elastic fibers in the dermis 55 31 hallmark (90%) Very frequent (99-80%) HP:0025167
26 small, conical teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0200141
27 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
28 blue sclerae 55 31 frequent (33%) Frequent (79-30%) HP:0000592
29 abnormality of the corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001273
30 cerebellar vermis hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001320
31 ventricular septal defect 55 31 frequent (33%) Frequent (79-30%) HP:0001629
32 progressive cerebellar ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0002073
33 excessive wrinkled skin 55 31 frequent (33%) Frequent (79-30%) HP:0007392
34 abnormal fundus fluorescein angiography 55 31 frequent (33%) Frequent (79-30%) HP:0030604
35 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
36 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
37 persistent left superior vena cava 55 31 occasional (7.5%) Occasional (29-5%) HP:0005301
38 bilateral sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0008619
39 hypoplastic aortic arch 55 31 occasional (7.5%) Occasional (29-5%) HP:0012304
40 inguinal hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000023
41 narrow mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000160
42 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
43 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
44 progressive microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000253
45 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
46 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
47 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
48 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
49 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
50 delayed eruption of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000684

UMLS symptoms related to De Barsy Syndrome:


grimacing, seizures, athetosis

Drugs & Therapeutics for De Barsy Syndrome

Search Clinical Trials , NIH Clinical Center for De Barsy Syndrome

Genetic Tests for De Barsy Syndrome

Anatomical Context for De Barsy Syndrome

MalaCards organs/tissues related to De Barsy Syndrome:

38
Skin, Eye, Bone

Publications for De Barsy Syndrome

Articles related to De Barsy Syndrome:

(show all 18)
# Title Authors Year
1
Clinical implications of de Barsy syndrome. ( 29148179 )
2018
2
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. ( 27379772 )
2016
3
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. ( 26955101 )
2016
4
A case of de Barsy syndrome with a severe eye phenotype. ( 22887749 )
2012
5
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. ( 22411858 )
2012
6
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. ( 22052856 )
2011
7
Anesthesia considerations for patients with de Barsy syndrome. ( 21056805 )
2010
8
De Barsy syndrome and ATP6V0A2-CDG. ( 20010974 )
2010
9
De Barsy syndrome: a review of the phenotype. ( 18388779 )
2008
10
The De Barsy syndrome. ( 15330994 )
2004
11
The de Barsy syndrome. ( 11297166 )
2001
12
Congenital corneal opacification in De Barsy syndrome. ( 11176995 )
2001
13
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. ( 9643297 )
1998
14
Orthopaedic manifestations in de Barsy syndrome. ( 8113374 )
1994
15
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. ( 1308362 )
1992
16
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). ( 3491758 )
1986
17
De Barsy syndrome--an autosomal recessive, progeroid syndrome. ( 4076251 )
1985
18
De Barsy syndrome. ( 7163260 )
1982

Variations for De Barsy Syndrome

ClinVar genetic disease variations for De Barsy Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH18A1 NM_002860.3(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Pathogenic rs121434582 GRCh37 Chromosome 10, 97402801: 97402801
2 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh37 Chromosome 10, 97366557: 97366557
3 ALDH18A1 NM_002860.3(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 GRCh38 Chromosome 10, 95613741: 95613741
4 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh38 Chromosome 10, 95610272: 95610272
5 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh38 Chromosome 10, 95612344: 95613866
6 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh38 Chromosome 10, 95606856: 95606856
7 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh38 Chromosome 10, 95606805: 95606805
8 ALDH18A1 NM_002860.3(ALDH18A1): c.741delT (p.Asp247Glufs) deletion Pathogenic GRCh37 Chromosome 10, 97392783: 97392783

Expression for De Barsy Syndrome

Search GEO for disease gene expression data for De Barsy Syndrome.

Pathways for De Barsy Syndrome

GO Terms for De Barsy Syndrome

Biological processes related to De Barsy Syndrome according to GeneCards Suite gene sharing:

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

Molecular functions related to De Barsy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.96 ALDH18A1 PYCR1
2 identical protein binding GO:0042802 8.8 ALDH18A1 FBN1 PYCR1

Sources for De Barsy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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