ARCL3A
MCID: CTS029
MIFTS: 39

Cutis Laxa, Autosomal Recessive, Type Iiia (ARCL3A)

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 Cutis Laxa, Autosomal Recessive, Type Iiia

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Iiia:

Name: Cutis Laxa, Autosomal Recessive, Type Iiia 58 13 41
De Barsy Syndrome a 58 12 76
Arcl3a 58 12 76
Progeroid Syndrome of De Barsy 58 76
De Barsy Syndrome 76 74
Mental Retardation Joint Hypermobility and Skin Laxity with or Without Metabolic Abnormalities 76
Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin 76
Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency 60
Cutis Laxa, Corneal Clouding, and Mental Retardation 58
Cutis Laxa Corneal Clouding and Mental Retardation 76
Cutis Laxa Corneal Clouding Mental Retardation 77
Autosomal Recessive Cutis Laxa Type Iiia 12
Cutis Laxa Autosomal Recessive Type Iiia 76
Neurocutaneous Syndrome, Bicknell Type 60
Neurocutaneous Syndrome Bicknell Type 76
Cutis Laxa, Autosomal Recessive, 3a 76
Aldh18a1-Related De Barsy Syndrome 60
Progeroid Syndrome De Barsy Type 77
P5cs Deficiency 60
Corneal Opacity 45

Characteristics:

Orphanet epidemiological data:

60
aldh18a1-related de barsy syndrome
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cutis laxa, autosomal recessive, type iiia:
Inheritance autosomal recessive inheritance sporadic


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Iiia

UniProtKB/Swiss-Prot : 76 Cutis laxa, autosomal recessive, 3A: A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iiia, also known as de barsy syndrome a, is related to congenital corneal opacities, cornea guttata, and corectopia and cutis laxa, autosomal recessive, type iiib, and has symptoms including seizures, athetosis and grimacing. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iiia is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include skin, eye and bone, and related phenotypes are intellectual disability and cataract

Disease Ontology : 12 A autosomal recessive cutis laxa type III that has material basis in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.

OMIM : 58 De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100. (219150)

Wikipedia : 77 De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose... more...

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iiia

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 Cutis Laxa, Autosomal Recessive, Type Iiia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 congenital corneal opacities, cornea guttata, and corectopia 12.5
2 cutis laxa, autosomal recessive, type iiib 12.3
3 fabry disease 11.6
4 anterior segment dysgenesis 7 11.6
5 lecithin:cholesterol acyltransferase deficiency 11.6
6 fish-eye disease 11.4
7 corneal dystrophy, reis-bucklers type 11.4
8 anterior segment dysgenesis 1 11.3
9 brachymesomelia-renal syndrome 11.3
10 mental retardation syndrome, mietens-weber type 11.3
11 cutis laxa, autosomal dominant 1 11.3
12 cutis laxa, autosomal recessive, type ia 11.3
13 cutis laxa, autosomal recessive, type iia 11.3
14 autosomal recessive cutis laxa type i 11.3
15 multicentric osteolysis, nodulosis, and arthropathy 11.2
16 winchester syndrome 11.2
17 corneal dystrophy, thiel-behnke type 11.2
18 arcus corneae 11.1
19 corneal hypesthesia, familial 11.1
20 gillespie syndrome 11.1
21 macular dystrophy, corneal 11.1
22 morquio syndrome c 11.1
23 mucolipidosis iv 11.1
24 spinocerebellar degeneration and corneal dystrophy 11.1
25 brachyolmia type 1, hobaek type 11.1
26 otopalatodigital syndrome, type ii 11.1
27 gomez-lopez-hernandez syndrome 11.1
28 ichthyosis, congenital, autosomal recessive 11 11.1
29 branchiootic syndrome 1 11.1
30 hurler syndrome 11.1
31 hurler-scheie syndrome 11.1
32 kanzaki disease 11.1
33 edict syndrome 11.1
34 anterior segment dysgenesis 6 11.1
35 brachyolmia 11.1
36 familial lcat deficiency 11.1
37 pillay syndrome 11.1
38 sclerocornea, autosomal dominant 10.4
39 cataract 10.3
40 peters-plus syndrome 10.3
41 autosomal recessive cutis laxa type iii 10.3
42 microphthalmia 10.2
43 aniridia 1 10.1
44 hydrocephalus 10.1
45 heart disease 10.1
46 microcephaly 10.1
47 cutis laxa, autosomal dominant 3 10.1
48 ehlers-danlos syndrome 10.1
49 geroderma osteodysplastica 10.1
50 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.1

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



Diseases related to Cutis Laxa, Autosomal Recessive, Type Iiia

Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Iiia

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iiia:

60 33 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 60 33 frequent (33%) Very frequent (99-80%) HP:0000518
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
5 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
6 hypertelorism 33 hallmark (90%) HP:0000316
7 low-set ears 33 hallmark (90%) HP:0000369
8 pectus excavatum 33 hallmark (90%) HP:0000767
9 high palate 33 hallmark (90%) HP:0000218
10 osteopenia 33 hallmark (90%) HP:0000938
11 hyperreflexia 33 hallmark (90%) HP:0001347
12 failure to thrive 33 hallmark (90%) HP:0001508
13 inguinal hernia 33 hallmark (90%) HP:0000023
14 delayed skeletal maturation 33 hallmark (90%) HP:0002750
15 corneal opacity 33 hallmark (90%) HP:0007957
16 delayed speech and language development 33 hallmark (90%) HP:0000750
17 umbilical hernia 33 hallmark (90%) HP:0001537
18 short stature 33 hallmark (90%) HP:0004322
19 decreased muscle mass 33 hallmark (90%) HP:0003199
20 brachycephaly 33 hallmark (90%) HP:0000248
21 prominent forehead 33 hallmark (90%) HP:0011220
22 delayed eruption of teeth 33 hallmark (90%) HP:0000684
23 epicanthus 33 hallmark (90%) HP:0000286
24 thin skin 33 hallmark (90%) HP:0000963
25 wormian bones 33 hallmark (90%) HP:0002645
26 intrauterine growth retardation 33 hallmark (90%) HP:0001511
27 postnatal growth retardation 33 hallmark (90%) HP:0008897
28 lipodystrophy 33 hallmark (90%) HP:0009125
29 congenital hip dislocation 33 hallmark (90%) HP:0001374
30 talipes equinovarus 33 hallmark (90%) HP:0001762
31 kyphoscoliosis 33 hallmark (90%) HP:0002751
32 deeply set eye 33 hallmark (90%) HP:0000490
33 downslanted palpebral fissures 33 hallmark (90%) HP:0000494
34 narrow mouth 33 hallmark (90%) HP:0000160
35 nasal speech 33 hallmark (90%) HP:0001611
36 adducted thumb 33 hallmark (90%) HP:0001181
37 decreased fetal movement 33 hallmark (90%) HP:0001558
38 coxa vara 33 hallmark (90%) HP:0002812
39 large earlobe 33 hallmark (90%) HP:0009748
40 sparse hair 33 hallmark (90%) HP:0008070
41 athetosis 33 hallmark (90%) HP:0002305
42 recurrent sinopulmonary infections 33 hallmark (90%) HP:0005425
43 progeroid facial appearance 33 hallmark (90%) HP:0005328
44 generalized joint laxity 33 hallmark (90%) HP:0002761
45 dermal translucency 33 hallmark (90%) HP:0010648
46 cutis laxa 33 hallmark (90%) HP:0000973
47 delayed closure of the anterior fontanelle 33 hallmark (90%) HP:0001476
48 infantile muscular hypotonia 33 hallmark (90%) HP:0008947
49 progressive microcephaly 33 hallmark (90%) HP:0000253
50 premature rupture of membranes 33 hallmark (90%) HP:0001788

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
myopia
hypotelorism
cataracts
more
Chest External Features:
pectus excavatum

Growth Other:
failure to thrive
poor postnatal growth
intrauterine growth retardation (iugr)

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Skull:
wormian bones
wide cranial sutures

Skeletal Feet:
talipes equinovarus
pes calcaneovalgus

Skin Nails Hair Skin:
cutis laxa
thin, translucent skin
prominent superficial blood vessels due to thin skin

Skeletal:
delayed bone age
hyperextensible joints
dislocated joints

Head And Neck Nose:
hypoplastic alae
pinched nose

Genitourinary Internal Genitalia Male:
undescended testes (in some patients)

Muscle Soft Tissue:
abnormal fat pad, buttocks and upper thighs (in some patients)

Head And Neck Ears:
low-set ears
large ears

Neurologic Central Nervous System:
seizures
hyperreflexia
grimacing
developmental delay
hypotonia
more
Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
prominent forehead
large fontanelles

Skeletal Pelvis:
congenital hip dislocation

Skin Nails Hair Hair:
sparse hair

Head And Neck Mouth:
small mouth

Skeletal Hands:
adducted thumbs
clenched fists

Head And Neck Face:
progeroid appearance

Skin Nails Hair Skin Histology:
reduced number of elastic fibers
thin or fragmented elastic fibers
degenerated elastic fibers

Clinical features from OMIM:

219150

UMLS symptoms related to Cutis Laxa, Autosomal Recessive, Type Iiia:


seizures, athetosis, grimacing

Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Iiia

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iiia

Cochrane evidence based reviews: corneal opacity

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iiia

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iiia

MalaCards organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iiia:

42
Skin, Eye, Bone, Heart, Testes, Pituitary, Pancreas

Publications for Cutis Laxa, Autosomal Recessive, Type Iiia

Articles related to Cutis Laxa, Autosomal Recessive, Type Iiia:

# Title Authors Year
1
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. ( 24767728 )
2014
2
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. ( 24913064 )
2014
3
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. ( 22411858 )
2012
4
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). ( 21739576 )
2011
5
De Barsy syndrome: a review of the phenotype. ( 18388779 )
2008
6
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. ( 18478038 )
2008
7
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. ( 11092761 )
2000

Variations for Cutis Laxa, Autosomal Recessive, Type Iiia

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iiia:

76
# Symbol AA change Variation ID SNP ID
1 ALDH18A1 p.Arg84Gln VAR_038482 rs121434582
2 ALDH18A1 p.Thr299Ile VAR_051792 rs2275272
3 ALDH18A1 p.His784Tyr VAR_058006 rs121434583
4 ALDH18A1 p.Gly93Arg VAR_075884
5 ALDH18A1 p.Tyr782Cys VAR_075896 rs774047299

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iiia:

6 (show top 50) (show all 85)
# 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 Conflicting interpretations of pathogenicity rs864321670 GRCh38 Chromosome 10, 95633012: 95633012
14 ALDH18A1 NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Conflicting interpretations of pathogenicity 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 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance
22 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh38 Chromosome 10, 95621190: 95621190
23 ALDH18A1 NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 GRCh37 Chromosome 10, 97380947: 97380947
24 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh38 Chromosome 10, 95621169: 95621169
25 ALDH18A1 NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 GRCh37 Chromosome 10, 97380926: 97380926
26 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh38 Chromosome 10, 95637159: 95637159
27 ALDH18A1 NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 GRCh37 Chromosome 10, 97396916: 97396916
28 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh37 Chromosome 10, 97373754: 97373754
29 ALDH18A1 NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 GRCh38 Chromosome 10, 95613997: 95613997
30 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh38 Chromosome 10, 95626740: 95626740
31 ALDH18A1 NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr) single nucleotide variant Benign/Likely benign rs3765571 GRCh37 Chromosome 10, 97386497: 97386497
32 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh37 Chromosome 10, 97366703: 97366703
33 ALDH18A1 NM_002860.3(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 GRCh38 Chromosome 10, 95606946: 95606946
34 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh37 Chromosome 10, 97371146: 97371146
35 ALDH18A1 NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 GRCh38 Chromosome 10, 95611389: 95611389
36 MCOLN1 NM_020533.2(MCOLN1): c.378C> G (p.Tyr126Ter) single nucleotide variant Likely pathogenic rs1057518782 GRCh37 Chromosome 19, 7591465: 7591465
37 MCOLN1 NM_020533.2(MCOLN1): c.378C> G (p.Tyr126Ter) single nucleotide variant Likely pathogenic rs1057518782 GRCh38 Chromosome 19, 7526579: 7526579
38 MCOLN1 NM_020533.2(MCOLN1): c.777+1G> C single nucleotide variant Likely pathogenic rs1057518781 GRCh38 Chromosome 19, 7527961: 7527961
39 MCOLN1 NM_020533.2(MCOLN1): c.777+1G> C single nucleotide variant Likely pathogenic rs1057518781 GRCh37 Chromosome 19, 7592847: 7592847
40 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh37 Chromosome 10, 97366675: 97366675
41 ALDH18A1 NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 GRCh38 Chromosome 10, 95606918: 95606918
42 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Conflicting interpretations of pathogenicity rs374052426 GRCh37 Chromosome 10, 97370000: 97370000
43 ALDH18A1 NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Conflicting interpretations of pathogenicity rs374052426 GRCh38 Chromosome 10, 95610243: 95610243
44 ALDH18A1 NM_002860.3(ALDH18A1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance rs770815414 GRCh37 Chromosome 10, 97373555: 97373555
45 ALDH18A1 NM_002860.3(ALDH18A1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance rs770815414 GRCh38 Chromosome 10, 95613798: 95613798
46 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh37 Chromosome 10, 97371181: 97371181
47 ALDH18A1 NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser) single nucleotide variant not provided rs768964431 GRCh38 Chromosome 10, 95611424: 95611424
48 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh37 Chromosome 10, 97376271: 97376271
49 ALDH18A1 NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 GRCh38 Chromosome 10, 95616514: 95616514
50 ALDH18A1 NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 GRCh37 Chromosome 10, 97396857: 97396857

Expression for Cutis Laxa, Autosomal Recessive, Type Iiia

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iiia.

Pathways for Cutis Laxa, Autosomal Recessive, Type Iiia

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iiia

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