MCID: ATS392
MIFTS: 47

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, Respiratory diseases, Skin diseases
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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 11 14
De Barsy Syndrome 11 19 58 75 28 5 43 38 71
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 11 19 58
Progeroid Syndrome, De Barsy Type 19 58
Corneal Clouding, Cutis Laxa and Intellectual Disability 19
Cutis Laxa Growth Deficiency Syndrome 19
Progeroid Syndrome of De Barsy 19

Characteristics:


Inheritance:

De Barsy Syndrome: Autosomal recessive 58

Prevelance:

De Barsy Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

De Barsy Syndrome: Infancy,Neonatal 58

Classifications:

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


Summaries for Autosomal Recessive Cutis Laxa Type Iii

GARD: 19 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 genetic changes in either the PYCR1 or ALDH18A1 genes. De Barsy syndrome is inherited in an autosomal recessive manner.

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), and among its related pathways/superpathways are Extracellular matrix organization and superpathway of L-citrulline metabolism. Affiliated tissues include skin and eye, and related phenotypes are hyperreflexia and failure to thrive

Orphanet: 58 De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.

Disease Ontology: 11 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
Cutis Laxa, Autosomal Recessive, Type Iie Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa Eln-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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 31.0 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal recessive, type iiib 30.6 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
3 cutis laxa, autosomal recessive, type ia 30.5 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
4 cutis laxa, autosomal dominant 3 30.2 PYCR1 ALDH18A1
5 cutis laxa, autosomal recessive, type iia 29.7 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
6 scoliosis 29.0 RIN2 LTBP4 FBLN5
7 cutis laxa 28.4 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5
8 geroderma osteodysplasticum 27.9 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
9 cutis laxa, autosomal recessive, type iib 27.5 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5
10 hypotonia 10.3
11 hutchinson-gilford progeria syndrome 10.2
12 vertical talus, congenital 10.2
13 cataract 10.2
14 progeroid syndrome 10.2
15 developmental dysplasia of the hip 1 10.0
16 pectus excavatum 10.0
17 costello syndrome 10.0
18 glaucoma 3, primary congenital, a 10.0
19 brittle bone disorder 10.0
20 myopia 10.0
21 hypertrophic pyloric stenosis 10.0
22 pyloric stenosis 10.0
23 ehlers-danlos syndrome 10.0
24 connective tissue disease 10.0
25 spinal stenosis 10.0
26 atp6v0a2-related cutis laxa 10.0
27 fbln5-related cutis laxa 10.0
28 hypermobile ehlers-danlos syndrome 10.0
29 immunodeficiency 47 9.9 PYCR1 ATP6V0A2 ALDH18A1
30 ureteric orifice cancer 9.9 FBLN5 EFEMP2
31 leukodystrophy, hypomyelinating, 10 9.9 PYCR2 PYCR1 ALDH18A1
32 cutis laxa, autosomal dominant 2 9.9 FBLN5 EFEMP2
33 macs syndrome 9.9 RIN2 FBLN5
34 ehlers-danlos syndrome, vascular type 9.8 FBLN5 EFEMP2
35 retinal drusen 9.8 FBLN5 EFEMP2
36 doyne honeycomb retinal dystrophy 9.8 FBLN5 EFEMP2
37 cutis laxa, autosomal recessive, type iid 9.7 RIN2 GORAB ATP6V0A2 ALDH18A1
38 geleophysic dysplasia 9.6 LTBP4 EFEMP2
39 aortic dissection 9.6 FBLN5 EFEMP2
40 bladder diverticulum 9.5 LTBP4 FBLN5 EFEMP2
41 arterial tortuosity syndrome 9.5 LTBP4 FBLN5 EFEMP2
42 supravalvular aortic stenosis 9.5 LTBP4 FBLN5 EFEMP2
43 loeys-dietz syndrome 9.5 LTBP4 FBLN5 EFEMP2
44 aortic aneurysm 9.4 LTBP4 FBLN5 EFEMP2
45 aortic aneurysm, familial thoracic 1 9.3 LTBP4 FBLN5 EFEMP2
46 wrinkly skin syndrome 9.2 PYCR1 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
47 inguinal hernia 9.1 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2
48 cutis laxa, autosomal dominant 1 8.9 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
49 cutis laxa, autosomal recessive, type ic 8.7 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
50 occipital horn syndrome 8.7 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2

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 30 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001347
2 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
3 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
4 osteopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000938
5 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
6 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
7 corneal opacity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007957
8 inguinal hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000023
9 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
10 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000750
11 umbilical hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001537
12 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
13 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
14 decreased muscle mass 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003199
15 prominent forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011220
16 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
17 postnatal growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008897
18 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
19 epicanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000286
20 pectus excavatum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000767
21 lipodystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009125
22 congenital hip dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001374
23 talipes equinovarus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001762
24 kyphoscoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002751
25 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
26 narrow mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000160
27 delayed eruption of teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000684
28 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
29 nasal speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001611
30 adducted thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001181
31 decreased fetal movement 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001558
32 wormian bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002645
33 coxa vara 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002812
34 large earlobe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009748
35 sparse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008070
36 athetosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002305
37 cutis laxa 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000973
38 recurrent sinopulmonary infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005425
39 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000963
40 high myopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011003
41 generalized joint laxity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002761
42 dermal translucency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010648
43 delayed closure of the anterior fontanelle 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001476
44 talipes calcaneovalgus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001884
45 progeroid facial appearance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005328
46 fragmented elastic fibers in the dermis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025167
47 infantile muscular hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008947
48 prominent veins on trunk 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007457
49 progressive microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000253
50 prominent nasolabial fold 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005272

UMLS symptoms related to Autosomal Recessive Cutis Laxa Type Iii:


athetosis; seizures; 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 9.1 ALDH18A1 ATP6V0A2 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

Genetic tests related to Autosomal Recessive Cutis Laxa Type Iii:

# Genetic test Affiliating Genes
1 De Barsy Syndrome 28

Anatomical Context for Autosomal Recessive Cutis Laxa Type Iii

Organs/tissues related to Autosomal Recessive Cutis Laxa Type Iii:

MalaCards : Skin, Eye

Publications for Autosomal Recessive Cutis Laxa Type Iii

Articles related to Autosomal Recessive Cutis Laxa Type Iii:

(show all 30)
# Title Authors PMID Year
1
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 62 5
24913064 2014
2
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 62 5
21739576 2011
3
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. 5
29915212 2018
4
Genetic diagnosis of Mendelian disorders via RNA sequencing. 5
28604674 2017
5
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. 5
28567303 2016
6
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
7
A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report. 62
33346319 2021
8
Clinical implications of de Barsy syndrome. 62
29148179 2018
9
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. 62
27379772 2016
10
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. 62
26955101 2016
11
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 62
26320891 2015
12
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 62
24035636 2013
13
A case of de Barsy syndrome with a severe eye phenotype. 62
22887749 2012
14
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 62
22411858 2012
15
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 62
22052856 2011
16
Anesthesia considerations for patients with de Barsy syndrome. 62
21056805 2010
17
De Barsy syndrome and ATP6V0A2-CDG. 62
20010974 2010
18
De Barsy syndrome: a review of the phenotype. 62
18388779 2008
19
The De Barsy syndrome. 62
15330994 2004
20
Congenital corneal opacification in De Barsy syndrome. 62
11176995 2001
21
The de Barsy syndrome. 62
11297166 2001
22
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 62
9643297 1998
23
Orthopaedic manifestations in de Barsy syndrome. 62
8113374 1994
24
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. 62
1308362 1992
25
[The De Barsy syndrome]. 62
2741159 1989
26
"New syndromes," Part II: "European" syndromes. 62
3144988 1988
27
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). 62
3491758 1986
28
De Barsy syndrome--an autosomal recessive, progeroid syndrome. 62
4076251 1985
29
De Barsy syndrome. 62
7163260 1982
30
[De Barsy syndrome, a further case (author's transl)]. 62
4475320 1974

Variations for Autosomal Recessive Cutis Laxa Type Iii

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

5 (show top 50) (show all 174)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH18A1 NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) DEL Pathogenic
459841 rs1555262375 GRCh37: 10:97392783-97392783
GRCh38: 10:95633026-95633026
2 ALDH18A1 NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) SNV Pathogenic
217118 rs863224945 GRCh37: 10:97397138-97397138
GRCh38: 10:95637381-95637381
3 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) SNV Pathogenic
217117 rs864321670 GRCh37: 10:97392769-97392769
GRCh38: 10:95633012-95633012
4 ALDH18A1 NM_002860.4(ALDH18A1):c.88+1G>A SNV Likely Pathogenic
659530 rs556267618 GRCh37: 10:97413046-97413046
GRCh38: 10:95653289-95653289
5 ALDH18A1 NM_002860.4(ALDH18A1):c.933+1G>A SNV Likely Pathogenic
1487261 GRCh37: 10:97388124-97388124
GRCh38: 10:95628367-95628367
6 ALDH18A1 NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro) SNV Uncertain Significance
1502817 GRCh37: 10:97381002-97381002
GRCh38: 10:95621245-95621245
7 ALDH18A1 NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) SNV Uncertain Significance
1514097 GRCh37: 10:97385167-97385167
GRCh38: 10:95625410-95625410
8 ALDH18A1 NM_002860.4(ALDH18A1):c.1078+5A>G SNV Uncertain Significance
1523847 GRCh37: 10:97387194-97387194
GRCh38: 10:95627437-95627437
9 ALDH18A1 NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg) SNV Uncertain Significance
1517557 GRCh37: 10:97413113-97413113
GRCh38: 10:95653356-95653356
10 ALDH18A1 NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp) SNV Uncertain Significance
1517687 GRCh37: 10:97371183-97371183
GRCh38: 10:95611426-95611426
11 ALDH18A1 NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=) SNV Uncertain Significance
1515929 GRCh37: 10:97373724-97373724
GRCh38: 10:95613967-95613967
12 ALDH18A1 NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=) SNV Uncertain Significance
1349768 GRCh37: 10:97397068-97397068
GRCh38: 10:95637311-95637311
13 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) SNV Uncertain Significance
573157 rs201841420 GRCh37: 10:97393256-97393256
GRCh38: 10:95633499-95633499
14 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) SNV Uncertain Significance
579657 rs757876226 GRCh37: 10:97380862-97380862
GRCh38: 10:95621105-95621105
15 ALDH18A1 NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) SNV Uncertain Significance
581031 rs1302919102 GRCh37: 10:97397069-97397069
GRCh38: 10:95637312-95637312
16 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) SNV Uncertain Significance
638826 rs201841420 GRCh37: 10:97393256-97393256
GRCh38: 10:95633499-95633499
17 ALDH18A1 NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) SNV Uncertain Significance
956990 rs192770256 GRCh37: 10:97387304-97387304
GRCh38: 10:95627547-95627547
18 ALDH18A1 NM_002860.4(ALDH18A1):c.2110+13A>G SNV Uncertain Significance
301758 rs375782465 GRCh37: 10:97371000-97371000
GRCh38: 10:95611243-95611243
19 ALDH18A1 NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) SNV Uncertain Significance
301766 rs886047511 GRCh37: 10:97380870-97380870
GRCh38: 10:95621113-95621113
20 ALDH18A1 NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) SNV Uncertain Significance
879505 rs764910330 GRCh37: 10:97373736-97373736
GRCh38: 10:95613979-95613979
21 ALDH18A1 NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) SNV Uncertain Significance
879506 rs139035272 GRCh37: 10:97373784-97373784
GRCh38: 10:95614027-95614027
22 ALDH18A1 NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) SNV Uncertain Significance
1048920 GRCh37: 10:97366599-97366599
GRCh38: 10:95606842-95606842
23 ALDH18A1 NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) SNV Uncertain Significance
1179907 GRCh37: 10:97402904-97402904
GRCh38: 10:95643147-95643147
24 ALDH18A1 NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg) SNV Uncertain Significance
1371088 GRCh37: 10:97366650-97366650
GRCh38: 10:95606893-95606893
25 ALDH18A1 NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) SNV Uncertain Significance
985227 rs745614904 GRCh37: 10:97386500-97386500
GRCh38: 10:95626743-95626743
26 ALDH18A1 NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) SNV Uncertain Significance
1304593 GRCh37: 10:97387291-97387291
GRCh38: 10:95627534-95627534
27 ALDH18A1 NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) SNV Uncertain Significance
1342764 GRCh37: 10:97393363-97393363
GRCh38: 10:95633606-95633606
28 ALDH18A1 NM_002860.4(ALDH18A1):c.1467+16G>A SNV Uncertain Significance
1396310 GRCh37: 10:97380772-97380772
GRCh38: 10:95621015-95621015
29 ALDH18A1 NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) SNV Uncertain Significance
1392020 GRCh37: 10:97373834-97373834
GRCh38: 10:95614077-95614077
30 ALDH18A1 NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg) SNV Uncertain Significance
1368457 GRCh37: 10:97366637-97366637
GRCh38: 10:95606880-95606880
31 ALDH18A1 NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn) SNV Uncertain Significance
1412862 GRCh37: 10:97402848-97402848
GRCh38: 10:95643091-95643091
32 ALDH18A1 NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr) SNV Uncertain Significance
1400420 GRCh37: 10:97380874-97380874
GRCh38: 10:95621117-95621117
33 ALDH18A1 NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val) SNV Uncertain Significance
1408087 GRCh37: 10:97413109-97413109
GRCh38: 10:95653352-95653352
34 ALDH18A1 NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr) SNV Uncertain Significance
1417490 GRCh37: 10:97366578-97366578
GRCh38: 10:95606821-95606821
35 ALDH18A1 NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) SNV Uncertain Significance
1366482 GRCh37: 10:97385193-97385193
GRCh38: 10:95625436-95625436
36 ALDH18A1 NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=) SNV Uncertain Significance
1417230 GRCh37: 10:97380875-97380875
GRCh38: 10:95621118-95621118
37 ALDH18A1 NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe) SNV Uncertain Significance
1434093 GRCh37: 10:97366647-97366647
GRCh38: 10:95606890-95606890
38 ALDH18A1 NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu) SNV Uncertain Significance
1438548 GRCh37: 10:97392806-97392806
GRCh38: 10:95633049-95633049
39 ALDH18A1 NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp) SNV Uncertain Significance
1433375 GRCh37: 10:97393250-97393250
GRCh38: 10:95633493-95633493
40 ALDH18A1 NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys) SNV Uncertain Significance
1450626 GRCh37: 10:97402772-97402772
GRCh38: 10:95643015-95643015
41 ALDH18A1 NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) SNV Uncertain Significance
860228 rs768985400 GRCh37: 10:97388171-97388171
GRCh38: 10:95628414-95628414
42 ALDH18A1 NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile) SNV Uncertain Significance
862391 rs756291410 GRCh37: 10:97370020-97370020
GRCh38: 10:95610263-95610263
43 ALDH18A1 NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His) SNV Uncertain Significance
862839 rs1283928441 GRCh37: 10:97385166-97385166
GRCh38: 10:95625409-95625409
44 ALDH18A1 NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu) SNV Uncertain Significance
862860 rs868590536 GRCh37: 10:97387204-97387204
GRCh38: 10:95627447-95627447
45 ALDH18A1 NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His) SNV Uncertain Significance
863417 rs754880517 GRCh37: 10:97402888-97402888
GRCh38: 10:95643131-95643131
46 ALDH18A1 NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe) SNV Uncertain Significance
936015 rs1380580792 GRCh37: 10:97392738-97392738
GRCh38: 10:95632981-95632981
47 ALDH18A1 NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys) SNV Uncertain Significance
1056056 GRCh37: 10:97369984-97369984
GRCh38: 10:95610227-95610227
48 ALDH18A1 NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro) SNV Uncertain Significance
1380323 GRCh37: 10:97371187-97371187
GRCh38: 10:95611430-95611430
49 ALDH18A1 NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr) SNV Uncertain Significance
1363818 GRCh37: 10:97376365-97376365
GRCh38: 10:95616608-95616608
50 ALDH18A1 NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile) SNV Uncertain Significance
1406769 GRCh37: 10:97380844-97380844
GRCh38: 10:95621087-95621087

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 extracellular matrix GO:0031012 9.63 LTBP4 FBLN5 EFEMP2
2 microfibril GO:0001527 9.26 LTBP4 EFEMP2
3 elastic fiber GO:0071953 8.92 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 elastic fiber assembly GO:0048251 9.55 LTBP4 FBLN5 EFEMP2
2 amino acid biosynthetic process GO:0008652 9.43 PYCR2 PYCR1 ALDH18A1
3 L-proline biosynthetic process GO:0055129 9.43 PYCR2 PYCR1 ALDH18A1
4 proline biosynthetic process GO:0006561 9.1 PYCR2 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 pyrroline-5-carboxylate reductase activity GO:0004735 8.92 PYCR2 PYCR1

Sources for Autosomal Recessive Cutis Laxa Type Iii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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