MCID: ATS392
MIFTS: 33

Autosomal Recessive Cutis Laxa Type Iii

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

Aliases & Classifications for Autosomal Recessive Cutis Laxa Type Iii

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type Iii:

Name: Autosomal Recessive Cutis Laxa Type Iii 12
De Barsy Syndrome 12 76 53 59 44 73
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 12 59
Progeroid Syndrome, De Barsy Type 53 59
Corneal Clouding, Cutis Laxa and Mental Retardation 53
Cutis Laxa Growth Deficiency Syndrome 53
Progeroid Syndrome of De Barsy 53
De Barsy Syndrome ) 40

Characteristics:

Orphanet epidemiological data:

59
de barsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



Summaries for Autosomal Recessive Cutis Laxa Type Iii

NIH Rare Diseases : 53 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.

MalaCards based summary : Autosomal Recessive Cutis Laxa Type Iii, also known as de barsy syndrome, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal recessive, type iiib, and has symptoms including athetosis, seizures and grimacing. An important gene associated with Autosomal Recessive Cutis Laxa Type Iii is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include skin, eye and bone, and related phenotypes are nasal speech and talipes equinovarus

Disease Ontology : 12 A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.

Wikipedia : 76 De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose... more...

Related Diseases for Autosomal Recessive Cutis Laxa Type Iii

Symptoms & Phenotypes for Autosomal Recessive Cutis Laxa Type Iii

Human phenotypes related to Autosomal Recessive Cutis Laxa Type Iii:

59 32 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nasal speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001611
2 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
3 premature rupture of membranes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001788
4 talipes calcaneovalgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001884
5 athetosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002305
6 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
7 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
8 kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002751
9 generalized joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002761
10 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
11 decreased muscle mass 59 32 hallmark (90%) Very frequent (99-80%) HP:0003199
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 prominent nasolabial fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0005272
14 progeroid facial appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005328
15 recurrent sinopulmonary infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005425
16 prominent veins on trunk 59 32 hallmark (90%) Very frequent (99-80%) HP:0007457
17 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
18 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
19 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
20 infantile muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008947
21 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
22 large earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009748
23 dermal translucency 59 32 hallmark (90%) Very frequent (99-80%) HP:0010648
24 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
25 fragmented elastic fibers in the dermis 59 32 hallmark (90%) Very frequent (99-80%) HP:0025167
26 small, conical teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0200141
27 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
28 blue sclerae 59 32 frequent (33%) Frequent (79-30%) HP:0000592
29 abnormality of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001273
30 cerebellar vermis hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001320
31 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
32 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
33 excessive wrinkled skin 59 32 frequent (33%) Frequent (79-30%) HP:0007392
34 abnormal fundus fluorescein angiography 59 32 frequent (33%) Frequent (79-30%) HP:0030604
35 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
36 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
37 persistent left superior vena cava 59 32 occasional (7.5%) Occasional (29-5%) HP:0005301
38 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
39 hypoplastic aortic arch 59 32 occasional (7.5%) Occasional (29-5%) HP:0012304
40 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
41 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
42 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
43 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
44 progressive microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000253
45 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
46 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
47 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
48 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
49 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
50 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684

UMLS symptoms related to Autosomal Recessive Cutis Laxa Type Iii:


athetosis, seizures, grimacing

Drugs & Therapeutics for Autosomal Recessive Cutis Laxa Type Iii

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

Cochrane evidence based reviews: de barsy syndrome

Genetic Tests for Autosomal Recessive Cutis Laxa Type Iii

Anatomical Context for Autosomal Recessive Cutis Laxa Type Iii

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

41
Skin, Eye, Bone

Publications for Autosomal Recessive Cutis Laxa Type Iii

Articles related to Autosomal Recessive Cutis Laxa Type Iii:

(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
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. ( 22411858 )
2012
5
A case of de Barsy syndrome with a severe eye phenotype. ( 22887749 )
2012
6
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. ( 22052856 )
2011
7
De Barsy syndrome and ATP6V0A2-CDG. ( 20010974 )
2010
8
Anesthesia considerations for patients with de Barsy syndrome. ( 21056805 )
2010
9
De Barsy syndrome: a review of the phenotype. ( 18388779 )
2008
10
The De Barsy syndrome. ( 15330994 )
2004
11
Congenital corneal opacification in De Barsy syndrome. ( 11176995 )
2001
12
The de Barsy syndrome. ( 11297166 )
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 Autosomal Recessive Cutis Laxa Type Iii

ClinVar genetic disease variations for Autosomal Recessive Cutis Laxa Type Iii:

6
(show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh37 Chromosome 10, 97366557: 97366557
2 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh38 Chromosome 10, 95606800: 95606800
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.1923+1G> A single nucleotide variant Pathogenic rs863223315 GRCh37 Chromosome 10, 97373498: 97373498
5 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh38 Chromosome 10, 95610272: 95610272
6 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh37 Chromosome 10, 97370029: 97370029
7 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh38 Chromosome 10, 95612344: 95613866
8 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh37 Chromosome 10, 97372101: 97373623
9 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh38 Chromosome 10, 95606856: 95606856
10 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh37 Chromosome 10, 97366613: 97366613
11 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh38 Chromosome 10, 95606805: 95606805
12 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh37 Chromosome 10, 97366562: 97366562
13 ALDH18A1 NM_002860.3(ALDH18A1): c.2206+15G> A single nucleotide variant Benign rs10882640 GRCh38 Chromosome 10, 95610182: 95610182
14 ALDH18A1 NM_002860.3(ALDH18A1): c.2206+15G> A single nucleotide variant Benign rs10882640 GRCh37 Chromosome 10, 97369939: 97369939
15 ALDH18A1 NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 GRCh38 Chromosome 10, 95627491: 95627491
16 ALDH18A1 NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 GRCh37 Chromosome 10, 97387248: 97387248
17 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh38 Chromosome 10, 95621190: 95621190
18 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh37 Chromosome 10, 97380947: 97380947
19 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh38 Chromosome 10, 95621169: 95621169
20 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh37 Chromosome 10, 97380926: 97380926
21 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh38 Chromosome 10, 95637159: 95637159
22 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh37 Chromosome 10, 97396916: 97396916
23 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh37 Chromosome 10, 97373754: 97373754
24 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh38 Chromosome 10, 95613997: 95613997
25 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh38 Chromosome 10, 95626740: 95626740
26 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh37 Chromosome 10, 97386497: 97386497
27 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh38 Chromosome 10, 95606946: 95606946
28 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh37 Chromosome 10, 97366703: 97366703
29 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh37 Chromosome 10, 97371146: 97371146
30 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh38 Chromosome 10, 95611389: 95611389
31 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh37 Chromosome 10, 97366675: 97366675
32 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh38 Chromosome 10, 95606918: 95606918
33 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Likely benign rs374052426 GRCh37 Chromosome 10, 97370000: 97370000
34 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Likely benign rs374052426 GRCh38 Chromosome 10, 95610243: 95610243
35 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh37 Chromosome 10, 97371181: 97371181
36 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh38 Chromosome 10, 95611424: 95611424
37 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh37 Chromosome 10, 97376271: 97376271
38 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh38 Chromosome 10, 95616514: 95616514
39 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh37 Chromosome 10, 97396857: 97396857
40 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh38 Chromosome 10, 95637100: 95637100
41 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97373747: 97373747
42 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95613990: 95613990
43 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh37 Chromosome 10, 97388190: 97388190
44 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh38 Chromosome 10, 95628433: 95628433
45 ALDH18A1 NM_002860.3(ALDH18A1): c.741delT (p.Asp247Glufs) deletion Pathogenic GRCh37 Chromosome 10, 97392783: 97392783
46 ALDH18A1 NM_002860.3(ALDH18A1): c.741delT (p.Asp247Glufs) deletion Pathogenic GRCh38 Chromosome 10, 95633026: 95633026
47 ALDH18A1 NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 GRCh37 Chromosome 10, 97380991: 97380991
48 ALDH18A1 NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 GRCh38 Chromosome 10, 95621234: 95621234
49 ALDH18A1 NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97387262: 97387262
50 ALDH18A1 NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95627505: 95627505

Expression for Autosomal Recessive Cutis Laxa Type Iii

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

Pathways for Autosomal Recessive Cutis Laxa Type Iii

GO Terms for Autosomal Recessive Cutis Laxa Type Iii

Sources for Autosomal Recessive Cutis Laxa Type Iii

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