MCID: ATS392
MIFTS: 43

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 74 52 58 43 71
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 12 52 58
Progeroid Syndrome, De Barsy Type 52 58
Corneal Clouding, Cutis Laxa and Intellectual Disability 52
Cutis Laxa Growth Deficiency Syndrome 52
Progeroid Syndrome of De Barsy 52

Characteristics:

Orphanet epidemiological data:

58
de barsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070143
MeSH 43 C535990
SNOMED-CT 67 59252009
MESH via Orphanet 44 C535990
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0268354
Orphanet 58 ORPHA2962
UMLS 71 C0268354

Summaries for Autosomal Recessive Cutis Laxa Type Iii

NIH Rare Diseases : 52 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 dominant 1 and cutis laxa, autosomal recessive, type iiia, 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 Degradation of the extracellular matrix and Amino Acid metabolism. 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 : 74 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 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 all 44)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal dominant 1 31.9 FBLN5 EFEMP2 ALDH18A1
2 cutis laxa, autosomal recessive, type iiia 31.4 PYCR1 LTBP4 GORAB ALDH18A1
3 cutis laxa, autosomal recessive, type iiib 30.8 PYCR1 LTBP4 GORAB EFEMP2 ALDH18A1
4 geroderma osteodysplasticum 30.2 PYCR1 GORAB
5 cutis laxa 29.1 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
6 autosomal recessive cutis laxa type i 29.0 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
7 cutis laxa, autosomal recessive, type iia 29.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8 cutis laxa, autosomal recessive, type ia 28.5 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
9 scoliosis 28.5 RIN2 LTBP4 FBLN5
10 hypotonia 10.3
11 hutchinson-gilford progeria syndrome 10.2
12 cataract 10.2
13 dwarfism 10.2
14 progeroid syndrome 10.2
15 pectus excavatum 10.0
16 dowling-degos disease 1 10.0
17 vertical talus, congenital 10.0
18 costello syndrome 10.0
19 brittle bone disorder 10.0
20 alacrima, achalasia, and mental retardation syndrome 10.0
21 cutis laxa, autosomal dominant 3 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 efemp2-related cutis laxa 10.0
29 fbln5-related cutis laxa 10.0
30 hypermobile ehlers-danlos syndrome 10.0
31 ltbp4-related cutis laxa 10.0
32 ureteric orifice cancer 9.8 FBLN5 EFEMP2
33 tricuspid valve prolapse 9.8 FBLN5 EFEMP2
34 doyne honeycomb retinal dystrophy 9.7 FBLN5 EFEMP2
35 macs syndrome 9.7 RIN2 FBLN5
36 supravalvular aortic stenosis 9.7 FBLN5 EFEMP2
37 congenital disorder of glycosylation, type in 9.6 GORAB ATP6V0A2
38 aortic aneurysm, familial thoracic 1 9.3 LTBP4 FBLN5 EFEMP2
39 loeys-dietz syndrome 9.2 LTBP4 FBLN5 EFEMP2
40 arterial tortuosity syndrome 9.0 LTBP4 GORAB FBLN5 EFEMP2
41 cutis laxa, autosomal recessive, type ib 8.4 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
42 cutis laxa, autosomal recessive, type ic 8.0 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
43 autosomal recessive cutis laxa type ii classic type 7.6 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
44 cutis laxa, autosomal recessive, type iib 7.6 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2

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:

58 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 Very frequent (99-80%)
2 low-set ears 58 Very frequent (99-80%)
3 pectus excavatum 58 Very frequent (99-80%)
4 hyperreflexia 58 Very frequent (99-80%)
5 failure to thrive 58 Very frequent (99-80%)
6 high palate 58 Very frequent (99-80%)
7 osteopenia 58 Very frequent (99-80%)
8 cataract 58 Frequent (79-30%)
9 global developmental delay 58 Very frequent (99-80%)
10 delayed skeletal maturation 58 Very frequent (99-80%)
11 corneal opacity 58 Very frequent (99-80%)
12 inguinal hernia 58 Very frequent (99-80%)
13 delayed speech and language development 58 Very frequent (99-80%)
14 umbilical hernia 58 Very frequent (99-80%)
15 short stature 58 Very frequent (99-80%)
16 cryptorchidism 58 Occasional (29-5%)
17 downslanted palpebral fissures 58 Very frequent (99-80%)
18 intrauterine growth retardation 58 Very frequent (99-80%)
19 ventricular septal defect 58 Frequent (79-30%)
20 decreased muscle mass 58 Very frequent (99-80%)
21 brachycephaly 58 Very frequent (99-80%)
22 prominent forehead 58 Very frequent (99-80%)
23 emphysema 58 Excluded (0%)
24 delayed eruption of teeth 58 Very frequent (99-80%)
25 patent ductus arteriosus 58 Occasional (29-5%)
26 epicanthus 58 Very frequent (99-80%)
27 thin skin 58 Very frequent (99-80%)
28 wormian bones 58 Very frequent (99-80%)
29 narrow mouth 58 Very frequent (99-80%)
30 postnatal growth retardation 58 Very frequent (99-80%)
31 lipodystrophy 58 Very frequent (99-80%)
32 congenital hip dislocation 58 Very frequent (99-80%)
33 talipes equinovarus 58 Very frequent (99-80%)
34 kyphoscoliosis 58 Very frequent (99-80%)
35 deeply set eye 58 Very frequent (99-80%)
36 cerebellar vermis hypoplasia 58 Frequent (79-30%)
37 infantile muscular hypotonia 58 Very frequent (99-80%)
38 nasal speech 58 Very frequent (99-80%)
39 decreased fetal movement 58 Very frequent (99-80%)
40 adducted thumb 58 Very frequent (99-80%)
41 progressive cerebellar ataxia 58 Frequent (79-30%)
42 coxa vara 58 Very frequent (99-80%)
43 blue sclerae 58 Frequent (79-30%)
44 large earlobe 58 Very frequent (99-80%)
45 sparse hair 58 Very frequent (99-80%)
46 hypoplastic aortic arch 58 Occasional (29-5%)
47 athetosis 58 Very frequent (99-80%)
48 recurrent sinopulmonary infections 58 Very frequent (99-80%)
49 persistent left superior vena cava 58 Occasional (29-5%)
50 high myopia 58 Very frequent (99-80%)

UMLS symptoms related to Autosomal Recessive Cutis Laxa Type Iii:


seizures, athetosis, grimacing

MGI Mouse Phenotypes related to Autosomal Recessive Cutis Laxa Type Iii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 GORAB LTBP4
2 respiratory system MP:0005388 8.92 EFEMP2 FBLN5 GORAB LTBP4

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:

40
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. 61 6
24913064 2014
2
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 61 6
22052856 2011
3
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 61 6
21739576 2011
4
De Barsy syndrome--an autosomal recessive, progeroid syndrome. 61 6
4076251 1985
5
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 6
24767728 2014
6
Mutations in PYCR1 cause cutis laxa with progeroid features. 6
19648921 2009
7
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 6
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. 6
11092761 2000
9
Clinical implications of de Barsy syndrome. 61
29148179 2018
10
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. 61
27379772 2016
11
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. 61
26955101 2016
12
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 61
26320891 2015
13
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 61
24035636 2013
14
A case of de Barsy syndrome with a severe eye phenotype. 61
22887749 2012
15
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 61
22411858 2012
16
Anesthesia considerations for patients with de Barsy syndrome. 61
21056805 2010
17
De Barsy syndrome and ATP6V0A2-CDG. 61
20010974 2010
18
De Barsy syndrome: a review of the phenotype. 61
18388779 2008
19
The De Barsy syndrome. 61
15330994 2004
20
Congenital corneal opacification in De Barsy syndrome. 61
11176995 2001
21
The de Barsy syndrome. 61
11297166 2001
22
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 61
9643297 1998
23
Orthopaedic manifestations in de Barsy syndrome. 61
8113374 1994
24
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. 61
1308362 1992
25
[The De Barsy syndrome]. 61
2741159 1989
26
"New syndromes," Part II: "European" syndromes. 61
3144988 1988
27
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). 61
3491758 1986
28
De Barsy syndrome. 61
7163260 1982
29
[De Barsy syndrome, a further case (author's transl)]. 61
4475320 1974

Variations for Autosomal Recessive Cutis Laxa Type Iii

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

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDH18A1 NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)deletion Pathogenic 156546 rs587777858 10:97370029-97370029 10:95610272-95610272
2 ALDH18A1 NM_002860.4(ALDH18A1):c.1802-2_1924-901deldeletion Pathogenic 156547 10:97372100-97373622 10:95612343-95613865
3 ALDH18A1 NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)SNV Pathogenic 217261 rs863225045 10:97397084-97397084 10:95637327-95637327
4 ALDH18A1 NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)SNV Pathogenic 217273 rs774047299 10:97366562-97366562 10:95606805-95606805
5 ALDH18A1 NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)SNV Pathogenic 16086 rs121434583 10:97366557-97366557 10:95606800-95606800
6 ALDH18A1 NM_002860.4(ALDH18A1):c.1923+1G>ASNV Pathogenic 29727 rs863223315 10:97373498-97373498 10:95613741-95613741
7 ALDH18A1 NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val)SNV Pathogenic 638645 10:97376340-97376340 10:95616583-95616583
8 ALDH18A1 NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)deletion Pathogenic 459841 rs1555262375 10:97392783-97392783 10:95633026-95633026
9 ALDH18A1 NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)SNV Pathogenic 807367 10:97366661-97366661 10:95606904-95606904
10 ALDH18A1 NM_002860.4(ALDH18A1):c.88+1G>ASNV Likely pathogenic 659530 10:97413046-97413046 10:95653289-95653289
11 ALDH18A1 NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)SNV Likely pathogenic 633462 rs762742204 10:97380982-97380982 10:95621225-95621225
12 ALDH18A1 NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)deletion Likely pathogenic 559864 rs1555264243 10:97402875-97402875 10:95643118-95643118
13 ALDH18A1 NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)SNV Likely pathogenic 216888 rs537043237 10:97366613-97366613 10:95606856-95606856
14 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)SNV Conflicting interpretations of pathogenicity 217117 rs864321670 10:97392769-97392769 10:95633012-95633012
15 ALDH18A1 NM_002860.4(ALDH18A1):c.2207-3C>TSNV Conflicting interpretations of pathogenicity 301756 rs149309642 10:97366703-97366703 10:95606946-95606946
16 ALDH18A1 NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)SNV Conflicting interpretations of pathogenicity 382498 rs774047299 10:97366562-97366562 10:95606805-95606805
17 ALDH18A1 NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)SNV Uncertain significance 424961 rs770815414 10:97373555-97373555 10:95613798-95613798
18 ALDH18A1 NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)SNV Uncertain significance 464042 rs201428777 10:97396857-97396857 10:95637100-95637100
19 ALDH18A1 NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)SNV Uncertain significance 464040 rs1231068982 10:97373747-97373747 10:95613990-95613990
20 ALDH18A1 NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)SNV Uncertain significance 464043 rs368147360 10:97388190-97388190 10:95628433-95628433
21 ALDH18A1 NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)SNV Uncertain significance 16085 rs121434582 10:97402801-97402801 10:95643044-95643044
22 ALDH18A1 NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)SNV Uncertain significance 581031 rs1302919102 10:97397069-97397069 10:95637312-95637312
23 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)SNV Uncertain significance 579657 rs757876226 10:97380862-97380862 10:95621105-95621105
24 ALDH18A1 NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)SNV Uncertain significance 581547 rs762271422 10:97366676-97366676 10:95606919-95606919
25 ALDH18A1 NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)SNV Uncertain significance 578899 rs758828421 10:97385132-97385132 10:95625375-95625375
26 ALDH18A1 NM_002860.4(ALDH18A1):c.1078+4A>GSNV Uncertain significance 578302 rs1566018543 10:97387195-97387195 10:95627438-95627438
27 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)SNV Uncertain significance 573157 rs201841420 10:97393256-97393256 10:95633499-95633499
28 ALDH18A1 NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)SNV Uncertain significance 570966 rs201801058 10:97393367-97393367 10:95633610-95633610
29 ALDH18A1 NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)SNV Uncertain significance 575749 rs570730665 10:97380885-97380885 10:95621128-95621128
30 ALDH18A1 NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)SNV Uncertain significance 566189 rs747291828 10:97388211-97388211 10:95628454-95628454
31 ALDH18A1 NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)SNV Uncertain significance 665168 10:97366524-97366524 10:95606767-95606767
32 ALDH18A1 NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)SNV Uncertain significance 664573 10:97366631-97366631 10:95606874-95606874
33 ALDH18A1 NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)SNV Uncertain significance 658085 10:97371046-97371046 10:95611289-95611289
34 ALDH18A1 NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)SNV Uncertain significance 658959 10:97373557-97373557 10:95613800-95613800
35 ALDH18A1 NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)SNV Uncertain significance 647291 10:97385128-97385128 10:95625371-95625371
36 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)SNV Uncertain significance 638826 10:97393256-97393256 10:95633499-95633499
37 ALDH18A1 NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)SNV Uncertain significance 660899 10:97402883-97402883 10:95643126-95643126
38 ALDH18A1 NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)SNV Uncertain significance 532701 rs200452017 10:97376235-97376235 10:95616478-95616478
39 ALDH18A1 NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)SNV Uncertain significance 464038 rs142712849 10:97380991-97380991 10:95621234-95621234
40 ALDH18A1 NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)SNV Uncertain significance 464037 rs1346763871 10:97387262-97387262 10:95627505-95627505
41 ALDH18A1 NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)SNV Likely benign 464041 rs772829720 10:97393287-97393287 10:95633530-95633530
42 ALDH18A1 NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)SNV Benign/Likely benign 301761 rs1804934 10:97371146-97371146 10:95611389-95611389
43 ALDH18A1 NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)SNV Benign/Likely benign 258823 rs41291566 10:97387248-97387248 10:95627491-95627491
44 ALDH18A1 NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)SNV Benign/Likely benign 301762 rs11541780 10:97373754-97373754 10:95613997-95613997
45 ALDH18A1 NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)SNV Benign/Likely benign 301770 rs3765571 10:97386497-97386497 10:95626740-95626740
46 ALDH18A1 NM_002860.4(ALDH18A1):c.2206+15G>ASNV Benign 258825 rs10882640 10:97369939-97369939 10:95610182-95610182
47 ALDH18A1 NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)SNV not provided 441102 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

GO Terms for Autosomal Recessive Cutis Laxa Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.8 LTBP4 FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cell growth GO:0001558 9.32 LTBP4 FBLN5
2 cellular amino acid biosynthetic process GO:0008652 9.26 PYCR1 ALDH18A1
3 elastic fiber assembly GO:0048251 9.16 FBLN5 EFEMP2
4 L-proline biosynthetic process GO:0055129 8.96 PYCR1 ALDH18A1
5 proline biosynthetic process GO:0006561 8.62 PYCR1 ALDH18A1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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