MCID: ATS392
MIFTS: 41

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 77 54 60 45 74
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 12 60
Progeroid Syndrome, De Barsy Type 54 60
Corneal Clouding, Cutis Laxa and Mental Retardation 54
Cutis Laxa Growth Deficiency Syndrome 54
Progeroid Syndrome of De Barsy 54
De Barsy Syndrome ) 41

Characteristics:

Orphanet epidemiological data:

60
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 45 C535990
SNOMED-CT 69 59252009
MESH via Orphanet 46 C535990
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C0268354
Orphanet 60 ORPHA2962
UMLS 74 C0268354

Summaries for Autosomal Recessive Cutis Laxa Type Iii

NIH Rare Diseases : 54 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 autosomal recessive cutis laxa type i and cutis laxa, autosomal recessive, type iia, 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 : 77 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 36)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cutis laxa type i 31.9 ELN ATP6V0A2
2 cutis laxa, autosomal recessive, type iia 31.9 GORAB ATP6V0A2
3 cutis laxa, autosomal dominant 1 30.4 PYCR1 FBN1 ELN ATP6V0A2 ALDH18A1
4 cutis laxa 29.7 PYCR1 ELN ATP6V0A2 ALDH18A1
5 cutis laxa, autosomal recessive, type iiia 11.6
6 cutis laxa, autosomal recessive, type iiib 11.6
7 cutis laxa, autosomal recessive, type ia 11.2
8 wrinkles 10.1 ELN ALDH18A1
9 geroderma osteodysplasticum 10.1 PYCR1 GORAB
10 ehlers-danlos syndrome 10.1
11 geroderma osteodysplastica 10.1
12 autosomal recessive cutis laxa type ii classic type 10.0 GORAB ATP6V0A2
13 late-onset focal dermal elastosis 9.9 FBN1 ELN
14 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.9 FBN1 ELN
15 pseudoxanthoma elasticum 9.9 FBN1 ELN
16 familial abdominal aortic aneurysm 9.9 FBN1 ELN
17 aortic aneurysm 9.9 FBN1 ELN
18 chronic actinic dermatitis 9.9 FBN1 ELN
19 mid-dermal elastolysis 9.9 FBN1 ELN
20 phacogenic glaucoma 9.9 FBN1 ELN
21 supravalvular aortic stenosis 9.8 FBN1 ELN
22 aortic valve insufficiency 9.8 FBN1 ELN
23 sorsby fundus dystrophy 9.8 FBN1 ELN
24 fundus dystrophy 9.8 FBN1 ELN
25 aortic aneurysm, familial thoracic 1 9.8 FBN1 ELN
26 pneumothorax 9.8 FBN1 ELN
27 exfoliation syndrome 9.8 FBN1 ELN
28 aortic aneurysm, familial abdominal, 1 9.8 FBN1 ELN
29 heart valve disease 9.8 FBN1 ELN
30 aortic disease 9.8 FBN1 ELN
31 cutis laxa, autosomal recessive, type iib 9.7 PYCR1 GORAB ATP6V0A2
32 orthostatic intolerance 9.7 FBN1 ELN
33 inguinal hernia 9.7 FBN1 ELN
34 marfan syndrome 9.7 FBN1 ELN
35 aortic valve disease 1 9.6 FBN1 ELN
36 connective tissue disease 9.5 FBN1 ELN

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:

60 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 Very frequent (99-80%)
2 low-set ears 60 Very frequent (99-80%)
3 pectus excavatum 60 Very frequent (99-80%)
4 high palate 60 Very frequent (99-80%)
5 osteopenia 60 Very frequent (99-80%)
6 hyperreflexia 60 Very frequent (99-80%)
7 failure to thrive 60 Very frequent (99-80%)
8 inguinal hernia 60 Very frequent (99-80%)
9 cataract 60 Frequent (79-30%)
10 global developmental delay 60 Very frequent (99-80%)
11 delayed skeletal maturation 60 Very frequent (99-80%)
12 corneal opacity 60 Very frequent (99-80%)
13 delayed speech and language development 60 Very frequent (99-80%)
14 umbilical hernia 60 Very frequent (99-80%)
15 short stature 60 Very frequent (99-80%)
16 decreased muscle mass 60 Very frequent (99-80%)
17 brachycephaly 60 Very frequent (99-80%)
18 prominent forehead 60 Very frequent (99-80%)
19 emphysema 60 Excluded (0%)
20 delayed eruption of teeth 60 Very frequent (99-80%)
21 patent ductus arteriosus 60 Occasional (29-5%)
22 epicanthus 60 Very frequent (99-80%)
23 thin skin 60 Very frequent (99-80%)
24 wormian bones 60 Very frequent (99-80%)
25 cryptorchidism 60 Occasional (29-5%)
26 intrauterine growth retardation 60 Very frequent (99-80%)
27 postnatal growth retardation 60 Very frequent (99-80%)
28 lipodystrophy 60 Very frequent (99-80%)
29 congenital hip dislocation 60 Very frequent (99-80%)
30 talipes equinovarus 60 Very frequent (99-80%)
31 kyphoscoliosis 60 Very frequent (99-80%)
32 deeply set eye 60 Very frequent (99-80%)
33 downslanted palpebral fissures 60 Very frequent (99-80%)
34 narrow mouth 60 Very frequent (99-80%)
35 nasal speech 60 Very frequent (99-80%)
36 ventricular septal defect 60 Frequent (79-30%)
37 adducted thumb 60 Very frequent (99-80%)
38 progressive cerebellar ataxia 60 Frequent (79-30%)
39 decreased fetal movement 60 Very frequent (99-80%)
40 coxa vara 60 Very frequent (99-80%)
41 blue sclerae 60 Frequent (79-30%)
42 large earlobe 60 Very frequent (99-80%)
43 sparse hair 60 Very frequent (99-80%)
44 hypoplastic aortic arch 60 Occasional (29-5%)
45 cerebellar vermis hypoplasia 60 Frequent (79-30%)
46 athetosis 60 Very frequent (99-80%)
47 severe myopia 60 Very frequent (99-80%)
48 excessive wrinkled skin 60 Frequent (79-30%)
49 progeroid facial appearance 60 Very frequent (99-80%)
50 generalized joint laxity 60 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:

42
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 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh38 Chromosome 10, 95606856: 95606856
2 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh37 Chromosome 10, 97366613: 97366613
3 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Pathogenic rs864321670 GRCh38 Chromosome 10, 95633012: 95633012
4 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Pathogenic rs864321670 GRCh37 Chromosome 10, 97392769: 97392769
5 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh38 Chromosome 10, 95606805: 95606805
6 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh37 Chromosome 10, 97366562: 97366562
7 ALDH18A1 NM_002860.3(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs121434582 GRCh37 Chromosome 10, 97402801: 97402801
8 ALDH18A1 NM_002860.3(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs121434582 GRCh38 Chromosome 10, 95643044: 95643044
9 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh37 Chromosome 10, 97366557: 97366557
10 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh38 Chromosome 10, 95606800: 95606800
11 ALDH18A1 NM_002860.3(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 GRCh38 Chromosome 10, 95613741: 95613741
12 ALDH18A1 NM_002860.3(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 GRCh37 Chromosome 10, 97373498: 97373498
13 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh38 Chromosome 10, 95610272: 95610272
14 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh37 Chromosome 10, 97370029: 97370029
15 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh38 Chromosome 10, 95612344: 95613866
16 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh37 Chromosome 10, 97372101: 97373623
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 rs1231068982 GRCh37 Chromosome 10, 97373747: 97373747
46 ALDH18A1 NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance rs1231068982 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 rs1555262375 GRCh37 Chromosome 10, 97392783: 97392783
50 ALDH18A1 NM_002860.3(ALDH18A1): c.741delT (p.Asp247Glufs) deletion Pathogenic rs1555262375 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 extracellular matrix structural constituent GO:0005201 8.96 ELN FBN1
2 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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