MCID: ATS392
MIFTS: 42

Autosomal Recessive Cutis Laxa Type Iii

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 Autosomal Recessive Cutis Laxa Type Iii

MalaCards integrated aliases for Autosomal Recessive Cutis Laxa Type Iii:

Name: Autosomal Recessive Cutis Laxa Type Iii 12 15
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:



External Ids:

Disease Ontology 12 DOID:0070143
MeSH 44 C535990
SNOMED-CT 68 59252009
Orphanet 59 ORPHA2962
MESH via Orphanet 45 C535990
UMLS via Orphanet 74 C0268354
ICD10 via Orphanet 34 Q87.8
UMLS 73 C0268354

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 iia and autosomal recessive cutis laxa type i, and has symptoms including seizures, athetosis and grimacing. An important gene associated with Autosomal Recessive Cutis Laxa Type Iii is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are Amino Acid metabolism and Elastic fibre formation. Affiliated tissues include skin, eye and bone, and related phenotypes are hypertelorism and low-set ears

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

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

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iia 32.0 ATP6V0A2 GORAB
2 autosomal recessive cutis laxa type i 31.9 ATP6V0A2 ELN
3 cutis laxa, autosomal dominant 1 31.1 ALDH18A1 ATP6V0A2 ELN FBN1 PYCR1
4 cutis laxa 30.1 ALDH18A1 ATP6V0A2 ELN PYCR1
5 cutis laxa, autosomal recessive, type iiia 11.5
6 cutis laxa, autosomal recessive, type iiib 11.5
7 cutis laxa, autosomal recessive, type ia 11.2
8 autosomal recessive cutis laxa type ii classic type 10.1 ATP6V0A2 GORAB
9 wrinkles 10.1 ALDH18A1 ELN
10 geroderma osteodysplasticum 10.1 GORAB PYCR1
11 ehlers-danlos syndrome 10.1
12 geroderma osteodysplastica 10.1
13 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.0 ELN FBN1
14 pseudoxanthoma elasticum 10.0 ELN FBN1
15 late-onset focal dermal elastosis 10.0 ELN FBN1
16 familial abdominal aortic aneurysm 10.0 ELN FBN1
17 aortic aneurysm 10.0 ELN FBN1
18 chronic actinic dermatitis 10.0 ELN FBN1
19 mid-dermal elastolysis 10.0 ELN FBN1
20 supravalvular aortic stenosis 10.0 ELN FBN1
21 aortic valve insufficiency 10.0 ELN FBN1
22 sorsby fundus dystrophy 10.0 ELN FBN1
23 aortic aneurysm, familial thoracic 1 10.0 ELN FBN1
24 pneumothorax 10.0 ELN FBN1
25 exfoliation syndrome 10.0 ELN FBN1
26 heart valve disease 9.9 ELN FBN1
27 aortic disease 9.9 ELN FBN1
28 inguinal hernia 9.9 ELN FBN1
29 cutis laxa, autosomal recessive, type iib 9.9 ATP6V0A2 GORAB PYCR1
30 marfan syndrome 9.9 ELN FBN1
31 juvenile glaucoma 9.9 ELN OPTN
32 orthostatic intolerance 9.9 ELN FBN1
33 aortic aneurysm, familial abdominal, 1 9.9 ELN FBN1
34 lens disease 9.9 FBN1 OPTN
35 glaucoma, primary open angle 9.8 ELN OPTN
36 aortic valve disease 1 9.8 ELN FBN1
37 phacogenic glaucoma 9.7 ELN FBN1 OPTN
38 open-angle glaucoma 9.7 ELN OPTN

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



Diseases related to 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 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 Very frequent (99-80%)
2 low-set ears 59 Very frequent (99-80%)
3 pectus excavatum 59 Very frequent (99-80%)
4 high palate 59 Very frequent (99-80%)
5 osteopenia 59 Very frequent (99-80%)
6 hyperreflexia 59 Very frequent (99-80%)
7 failure to thrive 59 Very frequent (99-80%)
8 inguinal hernia 59 Very frequent (99-80%)
9 cataract 59 Frequent (79-30%)
10 global developmental delay 59 Very frequent (99-80%)
11 delayed skeletal maturation 59 Very frequent (99-80%)
12 corneal opacity 59 Very frequent (99-80%)
13 delayed speech and language development 59 Very frequent (99-80%)
14 umbilical hernia 59 Very frequent (99-80%)
15 short stature 59 Very frequent (99-80%)
16 decreased muscle mass 59 Very frequent (99-80%)
17 brachycephaly 59 Very frequent (99-80%)
18 prominent forehead 59 Very frequent (99-80%)
19 emphysema 59 Excluded (0%)
20 delayed eruption of teeth 59 Very frequent (99-80%)
21 patent ductus arteriosus 59 Occasional (29-5%)
22 epicanthus 59 Very frequent (99-80%)
23 thin skin 59 Very frequent (99-80%)
24 wormian bones 59 Very frequent (99-80%)
25 cryptorchidism 59 Occasional (29-5%)
26 intrauterine growth retardation 59 Very frequent (99-80%)
27 postnatal growth retardation 59 Very frequent (99-80%)
28 lipodystrophy 59 Very frequent (99-80%)
29 congenital hip dislocation 59 Very frequent (99-80%)
30 talipes equinovarus 59 Very frequent (99-80%)
31 deeply set eye 59 Very frequent (99-80%)
32 downslanted palpebral fissures 59 Very frequent (99-80%)
33 narrow mouth 59 Very frequent (99-80%)
34 nasal speech 59 Very frequent (99-80%)
35 ventricular septal defect 59 Frequent (79-30%)
36 adducted thumb 59 Very frequent (99-80%)
37 progressive cerebellar ataxia 59 Frequent (79-30%)
38 decreased fetal movement 59 Very frequent (99-80%)
39 coxa vara 59 Very frequent (99-80%)
40 blue sclerae 59 Frequent (79-30%)
41 large earlobe 59 Very frequent (99-80%)
42 sparse hair 59 Very frequent (99-80%)
43 kyphoscoliosis 59 Very frequent (99-80%)
44 hypoplastic aortic arch 59 Occasional (29-5%)
45 cerebellar vermis hypoplasia 59 Frequent (79-30%)
46 athetosis 59 Very frequent (99-80%)
47 severe myopia 59 Very frequent (99-80%)
48 excessive wrinkled skin 59 Frequent (79-30%)
49 progeroid facial appearance 59 Very frequent (99-80%)
50 generalized joint laxity 59 Very frequent (99-80%)

UMLS symptoms related to Autosomal Recessive Cutis Laxa Type Iii:


seizures, athetosis, 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, Heart

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 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH18A1 NM_002860.3(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs121434582 GRCh37 Chromosome 10, 97402801: 97402801
2 ALDH18A1 NM_002860.3(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs121434582 GRCh38 Chromosome 10, 95643044: 95643044
3 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh37 Chromosome 10, 97366557: 97366557
4 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh38 Chromosome 10, 95606800: 95606800
5 ALDH18A1 NM_002860.3(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 GRCh38 Chromosome 10, 95613741: 95613741
6 ALDH18A1 NM_002860.3(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 GRCh37 Chromosome 10, 97373498: 97373498
7 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh38 Chromosome 10, 95610272: 95610272
8 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh37 Chromosome 10, 97370029: 97370029
9 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh38 Chromosome 10, 95612344: 95613866
10 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh37 Chromosome 10, 97372101: 97373623
11 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh38 Chromosome 10, 95606856: 95606856
12 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh37 Chromosome 10, 97366613: 97366613
13 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Pathogenic rs864321670 GRCh38 Chromosome 10, 95633012: 95633012
14 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Pathogenic rs864321670 GRCh37 Chromosome 10, 97392769: 97392769
15 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh38 Chromosome 10, 95606805: 95606805
16 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh37 Chromosome 10, 97366562: 97366562
17 ALDH18A1 NM_002860.3(ALDH18A1): c.2206+15G> A single nucleotide variant Benign rs10882640 GRCh38 Chromosome 10, 95610182: 95610182
18 ALDH18A1 NM_002860.3(ALDH18A1): c.2206+15G> A single nucleotide variant Benign rs10882640 GRCh37 Chromosome 10, 97369939: 97369939
19 ALDH18A1 NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 GRCh38 Chromosome 10, 95627491: 95627491
20 ALDH18A1 NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 GRCh37 Chromosome 10, 97387248: 97387248
21 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh38 Chromosome 10, 95621190: 95621190
22 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh37 Chromosome 10, 97380947: 97380947
23 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh38 Chromosome 10, 95621169: 95621169
24 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh37 Chromosome 10, 97380926: 97380926
25 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh38 Chromosome 10, 95637159: 95637159
26 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh37 Chromosome 10, 97396916: 97396916
27 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh37 Chromosome 10, 97373754: 97373754
28 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh38 Chromosome 10, 95613997: 95613997
29 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh38 Chromosome 10, 95626740: 95626740
30 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh37 Chromosome 10, 97386497: 97386497
31 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh37 Chromosome 10, 97366703: 97366703
32 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh38 Chromosome 10, 95606946: 95606946
33 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh37 Chromosome 10, 97371146: 97371146
34 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh38 Chromosome 10, 95611389: 95611389
35 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh37 Chromosome 10, 97366675: 97366675
36 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh38 Chromosome 10, 95606918: 95606918
37 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Likely benign rs374052426 GRCh37 Chromosome 10, 97370000: 97370000
38 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Likely benign rs374052426 GRCh38 Chromosome 10, 95610243: 95610243
39 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh37 Chromosome 10, 97371181: 97371181
40 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh38 Chromosome 10, 95611424: 95611424
41 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh37 Chromosome 10, 97376271: 97376271
42 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh38 Chromosome 10, 95616514: 95616514
43 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh37 Chromosome 10, 97396857: 97396857
44 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh38 Chromosome 10, 95637100: 95637100
45 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97373747: 97373747
46 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95613990: 95613990
47 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh37 Chromosome 10, 97388190: 97388190
48 ALDH18A1 NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 GRCh38 Chromosome 10, 95628433: 95628433
49 ALDH18A1 NM_002860.3(ALDH18A1): c.741delT (p.Asp247Glufs) deletion Pathogenic GRCh37 Chromosome 10, 97392783: 97392783
50 ALDH18A1 NM_002860.3(ALDH18A1): c.741delT (p.Asp247Glufs) deletion Pathogenic GRCh38 Chromosome 10, 95633026: 95633026

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

Pathways related to Autosomal Recessive Cutis Laxa Type Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.28 ALDH18A1 PYCR1
2
Show member pathways
11.12 ELN FBN1
3
Show member pathways
10.91 ALDH18A1 PYCR1
4
Show member pathways
10.57 ALDH18A1 PYCR1
5
Show member pathways
10 ALDH18A1 PYCR1

GO Terms for Autosomal Recessive Cutis Laxa Type Iii

Biological processes related to Autosomal Recessive Cutis Laxa Type Iii 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 L-proline biosynthetic process GO:0055129 8.96 ALDH18A1 PYCR1
3 proline biosynthetic process GO:0006561 8.62 ALDH18A1 PYCR1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.26 ALDH18A1 FBN1 OPTN PYCR1
2 extracellular matrix structural constituent GO:0005201 9.16 ELN FBN1
3 extracellular matrix constituent conferring elasticity GO:0030023 8.62 ELN FBN1

Sources for Autosomal Recessive Cutis Laxa Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....