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, 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 75 53 59 44 72
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

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
MESH via Orphanet 45 C535990
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0268354
Orphanet 59 ORPHA2962
UMLS 72 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 : 75 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
Acquired Cutis Laxa Autosomal Recessive Cutis Laxa Type 2

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iia 32.8 GORAB ATP6V0A2
2 autosomal recessive cutis laxa type i 32.1 ELN ATP6V0A2
3 cutis laxa 31.5 PYCR1 ELN ATP6V0A2 ALDH18A1
4 geroderma osteodysplasticum 30.4 PYCR1 GORAB
5 cutis laxa, autosomal dominant 1 30.2 PYCR1 FBN1 ELN ATP6V0A2 ALDH18A1
6 cutis laxa, autosomal recessive, type iiia 11.7
7 cutis laxa, autosomal recessive, type iiib 11.7
8 cutis laxa, autosomal recessive, type ia 11.4
9 hypotonia 10.3
10 hutchinson-gilford progeria syndrome 10.2
11 cataract 10.2
12 dwarfism 10.2
13 progeroid syndrome 10.2
14 autosomal recessive cutis laxa type ii classic type 10.2 GORAB ATP6V0A2
15 pectus excavatum 10.0
16 dowling-degos disease 1 10.0
17 costello syndrome 10.0
18 brittle bone disorder 10.0
19 alacrima, achalasia, and mental retardation syndrome 10.0
20 cutis laxa, autosomal dominant 3 10.0
21 scoliosis 10.0
22 myopia 10.0
23 hypertrophic pyloric stenosis 10.0
24 pyloric stenosis 10.0
25 ehlers-danlos syndrome 10.0
26 spinal stenosis 10.0
27 atp6v0a2-related cutis laxa 10.0
28 col1a1/2-related osteogenesis imperfecta 10.0
29 efemp2-related cutis laxa 10.0
30 fbln5-related cutis laxa 10.0
31 hypermobile ehlers-danlos syndrome 10.0
32 ltbp4-related cutis laxa 10.0
33 cutis laxa, autosomal recessive, type iib 9.8 PYCR1 GORAB ATP6V0A2
34 late-onset focal dermal elastosis 9.7 FBN1 ELN
35 pseudoxanthoma elasticum 9.7 FBN1 ELN
36 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.7 FBN1 ELN
37 familial abdominal aortic aneurysm 9.7 FBN1 ELN
38 aortic aneurysm 9.7 FBN1 ELN
39 chronic actinic dermatitis 9.7 FBN1 ELN
40 mid-dermal elastolysis 9.7 FBN1 ELN
41 phacogenic glaucoma 9.6 FBN1 ELN
42 supravalvular aortic stenosis 9.6 FBN1 ELN
43 aortic valve insufficiency 9.6 FBN1 ELN
44 sorsby fundus dystrophy 9.6 FBN1 ELN
45 aortic aneurysm, familial thoracic 1 9.6 FBN1 ELN
46 pneumothorax 9.6 FBN1 ELN
47 exfoliation syndrome 9.5 FBN1 ELN
48 aortic aneurysm, familial abdominal, 1 9.5 FBN1 ELN
49 heart valve disease 9.5 FBN1 ELN
50 aortic disease 9.4 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:

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 narrow mouth 59 Very frequent (99-80%)
26 cryptorchidism 59 Occasional (29-5%)
27 intrauterine growth retardation 59 Very frequent (99-80%)
28 postnatal growth retardation 59 Very frequent (99-80%)
29 lipodystrophy 59 Very frequent (99-80%)
30 congenital hip dislocation 59 Very frequent (99-80%)
31 talipes equinovarus 59 Very frequent (99-80%)
32 kyphoscoliosis 59 Very frequent (99-80%)
33 deeply set eye 59 Very frequent (99-80%)
34 downslanted palpebral fissures 59 Very frequent (99-80%)
35 nasal speech 59 Very frequent (99-80%)
36 ventricular septal defect 59 Frequent (79-30%)
37 adducted thumb 59 Very frequent (99-80%)
38 decreased fetal movement 59 Very frequent (99-80%)
39 progressive cerebellar ataxia 59 Frequent (79-30%)
40 coxa vara 59 Very frequent (99-80%)
41 blue sclerae 59 Frequent (79-30%)
42 large earlobe 59 Very frequent (99-80%)
43 sparse hair 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 recurrent sinopulmonary infections 59 Very frequent (99-80%)
48 persistent left superior vena cava 59 Occasional (29-5%)
49 infantile muscular hypotonia 59 Very frequent (99-80%)
50 high myopia 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

Publications for Autosomal Recessive Cutis Laxa Type Iii

Articles related to Autosomal Recessive Cutis Laxa Type Iii:

(show all 29)
# Title Authors PMID Year
1
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 38 71
24913064 2014
2
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 38 71
22052856 2011
3
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 38 71
21739576 2011
4
De Barsy syndrome--an autosomal recessive, progeroid syndrome. 38 71
4076251 1985
5
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 71
24767728 2014
6
Mutations in PYCR1 cause cutis laxa with progeroid features. 71
19648921 2009
7
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 71
18478038 2008
8
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. 71
11092761 2000
9
Clinical implications of de Barsy syndrome. 38
29148179 2018
10
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. 38
27379772 2016
11
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. 38
26955101 2016
12
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 38
26320891 2015
13
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 38
24035636 2013
14
A case of de Barsy syndrome with a severe eye phenotype. 38
22887749 2012
15
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 38
22411858 2012
16
Anesthesia considerations for patients with de Barsy syndrome. 38
21056805 2010
17
De Barsy syndrome and ATP6V0A2-CDG. 38
20010974 2010
18
De Barsy syndrome: a review of the phenotype. 38
18388779 2008
19
The De Barsy syndrome. 38
15330994 2004
20
Congenital corneal opacification in De Barsy syndrome. 38
11176995 2001
21
The de Barsy syndrome. 38
11297166 2001
22
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 38
9643297 1998
23
Orthopaedic manifestations in de Barsy syndrome. 38
8113374 1994
24
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. 38
1308362 1992
25
[The De Barsy syndrome]. 38
2741159 1989
26
"New syndromes," Part II: "European" syndromes. 38
3144988 1988
27
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). 38
3491758 1986
28
De Barsy syndrome. 38
7163260 1982
29
[De Barsy syndrome, a further case (author's transl)]. 38
4475320 1974

Variations for Autosomal Recessive Cutis Laxa Type Iii

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

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALDH18A1 NM_002860.4(ALDH18A1): c.741del (p.Asp247fs) deletion Pathogenic rs1555262375 10:97392783-97392783 10:95633026-95633026
2 ALDH18A1 NM_002860.4(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 10:97366557-97366557 10:95606800-95606800
3 ALDH18A1 NM_002860.4(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 10:97373498-97373498 10:95613741-95613741
4 ALDH18A1 NM_002860.4(ALDH18A1): c.2131del (p.Leu711fs) deletion Pathogenic rs587777858 10:97370029-97370029 10:95610272-95610272
5 ALDH18A1 NM_002860.4(ALDH18A1): c.1802-2_1924-901del deletion Pathogenic 10:97372101-97373623 10:95612344-95613866
6 ALDH18A1 NM_002860.4(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 10:97366562-97366562 10:95606805-95606805
7 ALDH18A1 NM_002860.4(ALDH18A1): c.1499G> T (p.Gly500Val) single nucleotide variant Pathogenic 10:97376340-97376340 10:95616583-95616583
8 ALDH18A1 NM_002860.4(ALDH18A1): c.1273C> T (p.Arg425Cys) single nucleotide variant Likely pathogenic 10:97380982-97380982 10:95621225-95621225
9 ALDH18A1 NM_002860.4(ALDH18A1): c.88+1G> A single nucleotide variant Likely pathogenic 10:97413046-97413046 10:95653289-95653289
10 ALDH18A1 NM_002860.4(ALDH18A1): c.177del (p.Lys59fs) deletion Likely pathogenic rs1555264243 10:97402875-97402875 10:95643118-95643118
11 ALDH18A1 NM_002860.4(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 10:97366613-97366613 10:95606856-95606856
12 ALDH18A1 NM_002860.4(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs864321670 10:97392769-97392769 10:95633012-95633012
13 ALDH18A1 NM_002860.4(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Conflicting interpretations of pathogenicity rs374052426 10:97370000-97370000 10:95610243-95610243
14 ALDH18A1 NM_002860.4(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 10:97380947-97380947 10:95621190-95621190
15 ALDH18A1 NM_002860.4(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 10:97396916-97396916 10:95637159-95637159
16 ALDH18A1 NM_002860.4(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 10:97366703-97366703 10:95606946-95606946
17 ALDH18A1 NM_002860.4(ALDH18A1): c.2383A> G (p.Asn795Asp) single nucleotide variant Uncertain significance 10:97366524-97366524 10:95606767-95606767
18 ALDH18A1 NM_002860.4(ALDH18A1): c.2276C> T (p.Thr759Ile) single nucleotide variant Uncertain significance 10:97366631-97366631 10:95606874-95606874
19 ALDH18A1 NM_002860.4(ALDH18A1): c.2077A> G (p.Ser693Gly) single nucleotide variant Uncertain significance 10:97371046-97371046 10:95611289-95611289
20 ALDH18A1 NM_002860.4(ALDH18A1): c.1865G> A (p.Arg622Gln) single nucleotide variant Uncertain significance 10:97373557-97373557 10:95613800-95613800
21 ALDH18A1 NM_002860.4(ALDH18A1): c.1237G> A (p.Glu413Lys) single nucleotide variant Uncertain significance 10:97385128-97385128 10:95625371-95625371
22 ALDH18A1 NM_002860.4(ALDH18A1): c.709G> T (p.Gly237Trp) single nucleotide variant Uncertain significance 10:97393256-97393256 10:95633499-95633499
23 ALDH18A1 NM_002860.4(ALDH18A1): c.169C> A (p.His57Asn) single nucleotide variant Uncertain significance 10:97402883-97402883 10:95643126-95643126
24 ALDH18A1 NM_002860.4(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs121434582 10:97402801-97402801 10:95643044-95643044
25 ALDH18A1 NM_002860.4(ALDH18A1): c.428C> T (p.Ser143Leu) single nucleotide variant Uncertain significance 10:97397069-97397069 10:95637312-95637312
26 ALDH18A1 NM_002860.4(ALDH18A1): c.1393G> C (p.Glu465Gln) single nucleotide variant Uncertain significance 10:97380862-97380862 10:95621105-95621105
27 ALDH18A1 NM_002860.4(ALDH18A1): c.2231C> T (p.Ser744Leu) single nucleotide variant Uncertain significance 10:97366676-97366676 10:95606919-95606919
28 ALDH18A1 NM_002860.4(ALDH18A1): c.1233G> T (p.Leu411Phe) single nucleotide variant Uncertain significance 10:97385132-97385132 10:95625375-95625375
29 ALDH18A1 NM_002860.4(ALDH18A1): c.1078+4A> G single nucleotide variant Uncertain significance 10:97387195-97387195 10:95627438-95627438
30 ALDH18A1 NM_002860.4(ALDH18A1): c.709G> C (p.Gly237Arg) single nucleotide variant Uncertain significance 10:97393256-97393256 10:95633499-95633499
31 ALDH18A1 NM_002860.4(ALDH18A1): c.598C> T (p.Arg200Cys) single nucleotide variant Uncertain significance 10:97393367-97393367 10:95633610-95633610
32 ALDH18A1 NM_002860.4(ALDH18A1): c.1370G> A (p.Arg457His) single nucleotide variant Uncertain significance 10:97380885-97380885 10:95621128-95621128
33 ALDH18A1 NM_002860.4(ALDH18A1): c.847C> T (p.Leu283Phe) single nucleotide variant Uncertain significance 10:97388211-97388211 10:95628454-95628454
34 ALDH18A1 NM_002860.4(ALDH18A1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance rs770815414 10:97373555-97373555 10:95613798-95613798
35 ALDH18A1 NM_002860.4(ALDH18A1): c.1604T> A (p.Leu535Gln) single nucleotide variant Uncertain significance rs200452017 10:97376235-97376235 10:95616478-95616478
36 ALDH18A1 NM_002860.4(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 10:97380991-97380991 10:95621234-95621234
37 ALDH18A1 NM_002860.4(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance rs1346763871 10:97387262-97387262 10:95627505-95627505
38 ALDH18A1 NM_002860.4(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 10:97376271-97376271 10:95616514-95616514
39 ALDH18A1 NM_002860.4(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 10:97396857-97396857 10:95637100-95637100
40 ALDH18A1 NM_002860.4(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance rs1231068982 10:97373747-97373747 10:95613990-95613990
41 ALDH18A1 NM_002860.4(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 10:97388190-97388190 10:95628433-95628433
42 ALDH18A1 NM_002860.4(ALDH18A1): c.678C> T (p.Val226=) single nucleotide variant Likely benign rs772829720 10:97393287-97393287 10:95633530-95633530
43 ALDH18A1 NM_002860.4(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 10:97366675-97366675 10:95606918-95606918
44 ALDH18A1 NM_002860.4(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 10:97373754-97373754 10:95613997-95613997
45 ALDH18A1 NM_002860.4(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 10:97386497-97386497 10:95626740-95626740
46 ALDH18A1 NM_002860.4(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 10:97380926-97380926 10:95621169-95621169
47 ALDH18A1 NM_002860.4(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 10:97371146-97371146 10:95611389-95611389
48 ALDH18A1 NM_002860.4(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 10:97387248-97387248 10:95627491-95627491
49 ALDH18A1 NM_002860.4(ALDH18A1): c.2206+15G> A single nucleotide variant Benign rs10882640 10:97369939-97369939 10:95610182-95610182
50 ALDH18A1 NM_002860.4(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 10:97371181-97371181 10:95611424-95611424

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 PYCR1 ALDH18A1
2
Show member pathways
11.12 FBN1 ELN
3
Show member pathways
10.91 PYCR1 ALDH18A1
4
Show member pathways
10.57 PYCR1 ALDH18A1
5
Show member pathways
10 PYCR1 ALDH18A1

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 PYCR1 ALDH18A1
2 proline biosynthetic process GO:0006561 8.96 PYCR1 ALDH18A1
3 L-proline biosynthetic process GO:0055129 8.62 PYCR1 ALDH18A1

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 FBN1 ELN
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 ELN

Sources for Autosomal Recessive Cutis Laxa Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....