ADCL3
MCID: CTS041
MIFTS: 42

Cutis Laxa, Autosomal Dominant 3 (ADCL3)

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 Cutis Laxa, Autosomal Dominant 3

Summaries for Cutis Laxa, Autosomal Dominant 3

UniProtKB/Swiss-Prot: 73 A form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation.

MalaCards based summary: Cutis Laxa, Autosomal Dominant 3, also known as adcl3, is related to autosomal recessive cutis laxa type i and autosomal recessive cutis laxa type iii. An important gene associated with Cutis Laxa, Autosomal Dominant 3 is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include skin, and related phenotypes are osteopenia and strabismus

OMIM®: 57 Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700). (616603) (Updated 08-Dec-2022)

Disease Ontology: 11 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Related Diseases for Cutis Laxa, Autosomal Dominant 3

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 Cutis Laxa, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cutis laxa type i 10.1 PYCR1 ALDH18A1
2 autosomal recessive cutis laxa type iii 10.0 PYCR1 ALDH18A1
3 cutis laxa, autosomal recessive, type iiib 10.0 PYCR1 ALDH18A1
4 cutis laxa, autosomal recessive, type iiia 10.0 PYCR1 ALDH18A1
5 cutis laxa, autosomal recessive, type ib 10.0 PYCR1 ALDH18A1
6 leukodystrophy, hypomyelinating, 10 10.0 PYCR1 ALDH18A1
7 wrinkly skin syndrome 9.9 PYCR1 ALDH18A1
8 cutis laxa 9.8 PYCR1 ATP6V1E1 ALDH18A1
9 cutis laxa, autosomal recessive, type iia 9.8 PYCR1 ATP6V1E1 ALDH18A1
10 cutis laxa, autosomal recessive, type iib 9.8 PYCR1 ATP6V1E1 ALDH18A1
11 geroderma osteodysplasticum 9.8 PYCR1 ATP6V1E1 ALDH18A1
12 immunodeficiency 47 9.7 PYCR1 ATP6V1E1 ALDH18A1
13 cutis laxa, autosomal recessive, type iid 9.7 PI4K2A ATP6V1E1 ALDH18A1
14 frank-ter haar syndrome 9.7 MTHFS AMT
15 cutis laxa, autosomal dominant 2 9.5 MTHFS MTHFD2L AMT
16 autosomal recessive cutis laxa type ii classic type 9.5 PYCR1 PI4K2A ATP6V1E1 ALDH18A1
17 glycine encephalopathy 9.5 MTHFD2L AMT
18 cutis laxa, autosomal dominant 1 9.2 PYCR1 MTHFS MTHFD2L AMT ALDH18A1

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Dominant 3:



Diseases related to Cutis Laxa, Autosomal Dominant 3

Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 3

Human phenotypes related to Cutis Laxa, Autosomal Dominant 3:

30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 30 Occasional (7.5%) HP:0000938
2 strabismus 30 Occasional (7.5%) HP:0000486
3 talipes equinovarus 30 Occasional (7.5%) HP:0001762
4 wormian bones 30 Occasional (7.5%) HP:0002645
5 unilateral renal agenesis 30 Occasional (7.5%) HP:0000122
6 autistic behavior 30 Occasional (7.5%) HP:0000729
7 aortic regurgitation 30 Occasional (7.5%) HP:0001659
8 small foramen magnum 30 Occasional (7.5%) HP:0002677
9 global developmental delay 30 HP:0001263
10 corneal opacity 30 HP:0007957
11 microcephaly 30 HP:0000252
12 prominent forehead 30 HP:0011220
13 hernia 30 HP:0100790
14 intrauterine growth retardation 30 HP:0001511
15 postnatal growth retardation 30 HP:0008897
16 low-set ears 30 HP:0000369
17 protruding ear 30 HP:0000411
18 hip dislocation 30 HP:0002827
19 broad forehead 30 HP:0000337
20 adducted thumb 30 HP:0001181
21 triangular face 30 HP:0000325
22 delayed cranial suture closure 30 HP:0000270
23 feeding difficulties 30 HP:0011968
24 cutis laxa 30 HP:0000973
25 generalized hypotonia 30 HP:0001290
26 developmental cataract 30 HP:0000519
27 brisk reflexes 30 HP:0001348
28 premature skin wrinkling 30 HP:0100678

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypotonia
psychomotor retardation
brisk reflexes
cranial vessel tortuosity
foramen magnum stenosis (in some patients)

Head And Neck Face:
prominent forehead
broad forehead
triangular face

Head And Neck Ears:
low-set ears
prominent ears

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Hands:
adducted thumbs
clenched fingers

Abdomen External Features:
hernias

Skeletal Feet:
clubfoot (in some patients)
pes calcaneovalgus (rare)

Skeletal Skull:
delayed closure of fontanels
wormian bones (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (rare)

Cardiovascular Heart:
thin, translucent aortic valve (rare)
aortic insufficiency (rare)

Laboratory Abnormalities:
decreased ornithine levels (in some patients)
decreased arginine levels (in some patients)
decreased proline levels (in some patients)

Head And Neck Head:
microcephaly

Prenatal Manifestations:
intrauterine growth retardation

Skeletal Pelvis:
hip dislocation

Head And Neck Eyes:
corneal clouding
strabismus (in some patients)
congenital cataracts

Skeletal Limbs:
joint hyperlaxity

Skeletal:
osteopenia (in some patients)

Skin Nails Hair Skin:
thin, translucent skin
wrinkled skin
lax skin

Genitourinary Kidneys:
unilateral renal agenesis (rare)

Growth Other:
prenatal and postnatal growth retardation

Skeletal Spine:
abnormal spine curvature (in some patients)

Clinical features from OMIM®:

616603 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Cutis Laxa, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 AMT MTHFS PYCR1

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 3

Search Clinical Trials, NIH Clinical Center for Cutis Laxa, Autosomal Dominant 3

Genetic Tests for Cutis Laxa, Autosomal Dominant 3

Genetic tests related to Cutis Laxa, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Cutis Laxa, Autosomal Dominant 3 28 ALDH18A1

Anatomical Context for Cutis Laxa, Autosomal Dominant 3

Organs/tissues related to Cutis Laxa, Autosomal Dominant 3:

MalaCards : Skin

Publications for Cutis Laxa, Autosomal Dominant 3

Articles related to Cutis Laxa, Autosomal Dominant 3:

(show all 12)
# Title Authors PMID Year
1
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 57 5
26320891 2015
2
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. 57 5
9643297 1998
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
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 5
24913064 2014
7
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 5
21739576 2011
8
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
9
The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report. 62
35770839 2022
10
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. 62
33573605 2021
11
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1. 62
32798076 2021
12
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. 62
32017139 2020

Variations for Cutis Laxa, Autosomal Dominant 3

ClinVar genetic disease variations for Cutis Laxa, Autosomal Dominant 3:

5 (show top 50) (show all 194)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH18A1 NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) SNV Pathogenic
217260 rs863225045 GRCh37: 10:97397084-97397084
GRCh38: 10:95637327-95637327
2 ALDH18A1 NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) SNV Pathogenic
217261 rs863225045 GRCh37: 10:97397084-97397084
GRCh38: 10:95637327-95637327
3 ALDH18A1 NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) SNV Pathogenic
217259 rs863225044 GRCh37: 10:97397085-97397085
GRCh38: 10:95637328-95637328
4 ALDH18A1 NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) SNV Pathogenic
217118 rs863224945 GRCh37: 10:97397138-97397138
GRCh38: 10:95637381-95637381
5 ALDH18A1 NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) DEL Pathogenic
459841 rs1555262375 GRCh37: 10:97392783-97392783
GRCh38: 10:95633026-95633026
6 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) SNV Pathogenic
217117 rs864321670 GRCh37: 10:97392769-97392769
GRCh38: 10:95633012-95633012
7 ALDH18A1 NM_002860.4(ALDH18A1):c.88+1G>A SNV Likely Pathogenic
659530 rs556267618 GRCh37: 10:97413046-97413046
GRCh38: 10:95653289-95653289
8 ALDH18A1 NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) SNV Likely Pathogenic
Uncertain Significance
217115 rs752669339 GRCh37: 10:97370017-97370017
GRCh38: 10:95610260-95610260
9 ALDH18A1 NM_002860.4(ALDH18A1):c.933+1G>A SNV Likely Pathogenic
1487261 GRCh37: 10:97388124-97388124
GRCh38: 10:95628367-95628367
10 ALDH18A1 NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro) SNV Uncertain Significance
1502817 GRCh37: 10:97381002-97381002
GRCh38: 10:95621245-95621245
11 ALDH18A1 NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) SNV Uncertain Significance
1514097 GRCh37: 10:97385167-97385167
GRCh38: 10:95625410-95625410
12 ALDH18A1 NM_002860.4(ALDH18A1):c.1078+5A>G SNV Uncertain Significance
1523847 GRCh37: 10:97387194-97387194
GRCh38: 10:95627437-95627437
13 ALDH18A1 NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg) SNV Uncertain Significance
854542 rs143635402 GRCh37: 10:97387318-97387318
GRCh38: 10:95627561-95627561
14 ALDH18A1 NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg) SNV Uncertain Significance
1517557 GRCh37: 10:97413113-97413113
GRCh38: 10:95653356-95653356
15 ALDH18A1 NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp) SNV Uncertain Significance
1517687 GRCh37: 10:97371183-97371183
GRCh38: 10:95611426-95611426
16 ALDH18A1 NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=) SNV Uncertain Significance
1515929 GRCh37: 10:97373724-97373724
GRCh38: 10:95613967-95613967
17 ALDH18A1 NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=) SNV Uncertain Significance
1349768 GRCh37: 10:97397068-97397068
GRCh38: 10:95637311-95637311
18 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) SNV Uncertain Significance
573157 rs201841420 GRCh37: 10:97393256-97393256
GRCh38: 10:95633499-95633499
19 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) SNV Uncertain Significance
579657 rs757876226 GRCh37: 10:97380862-97380862
GRCh38: 10:95621105-95621105
20 ALDH18A1 NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) SNV Uncertain Significance
581031 rs1302919102 GRCh37: 10:97397069-97397069
GRCh38: 10:95637312-95637312
21 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) SNV Uncertain Significance
638826 rs201841420 GRCh37: 10:97393256-97393256
GRCh38: 10:95633499-95633499
22 ALDH18A1 NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe) SNV Uncertain Significance
930682 rs2097834101 GRCh37: 10:97371133-97371133
GRCh38: 10:95611376-95611376
23 ALDH18A1 NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser) SNV Uncertain Significance
931997 rs2097831271 GRCh37: 10:97370001-97370001
GRCh38: 10:95610244-95610244
24 ALDH18A1 NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) SNV Uncertain Significance
956990 rs192770256 GRCh37: 10:97387304-97387304
GRCh38: 10:95627547-95627547
25 ALDH18A1 NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) SNV Uncertain Significance
1029649 rs770442555 GRCh37: 10:97376299-97376299
GRCh38: 10:95616542-95616542
26 ALDH18A1 NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro) SNV Uncertain Significance
1033543 rs771386671 GRCh37: 10:97380879-97380879
GRCh38: 10:95621122-95621122
27 ALDH18A1 NM_002860.4(ALDH18A1):c.2110+13A>G SNV Uncertain Significance
301758 rs375782465 GRCh37: 10:97371000-97371000
GRCh38: 10:95611243-95611243
28 ALDH18A1 NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) SNV Uncertain Significance
301766 rs886047511 GRCh37: 10:97380870-97380870
GRCh38: 10:95621113-95621113
29 ALDH18A1 NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) SNV Uncertain Significance
879505 rs764910330 GRCh37: 10:97373736-97373736
GRCh38: 10:95613979-95613979
30 ALDH18A1 NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) SNV Uncertain Significance
879506 rs139035272 GRCh37: 10:97373784-97373784
GRCh38: 10:95614027-95614027
31 ALDH18A1 NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) SNV Uncertain Significance
1048920 GRCh37: 10:97366599-97366599
GRCh38: 10:95606842-95606842
32 ALDH18A1 NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) SNV Uncertain Significance
1179907 GRCh37: 10:97402904-97402904
GRCh38: 10:95643147-95643147
33 ALDH18A1 NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg) SNV Uncertain Significance
1371088 GRCh37: 10:97366650-97366650
GRCh38: 10:95606893-95606893
34 ALDH18A1 NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) SNV Uncertain Significance
985227 rs745614904 GRCh37: 10:97386500-97386500
GRCh38: 10:95626743-95626743
35 ALDH18A1 NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) SNV Uncertain Significance
1304593 GRCh37: 10:97387291-97387291
GRCh38: 10:95627534-95627534
36 ALDH18A1 NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) SNV Uncertain Significance
1342764 GRCh37: 10:97393363-97393363
GRCh38: 10:95633606-95633606
37 ALDH18A1 NM_002860.4(ALDH18A1):c.1467+16G>A SNV Uncertain Significance
1396310 GRCh37: 10:97380772-97380772
GRCh38: 10:95621015-95621015
38 ALDH18A1 NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) SNV Uncertain Significance
1392020 GRCh37: 10:97373834-97373834
GRCh38: 10:95614077-95614077
39 ALDH18A1 NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg) SNV Uncertain Significance
1368457 GRCh37: 10:97366637-97366637
GRCh38: 10:95606880-95606880
40 ALDH18A1 NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn) SNV Uncertain Significance
1412862 GRCh37: 10:97402848-97402848
GRCh38: 10:95643091-95643091
41 ALDH18A1 NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr) SNV Uncertain Significance
1400420 GRCh37: 10:97380874-97380874
GRCh38: 10:95621117-95621117
42 ALDH18A1 NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val) SNV Uncertain Significance
1408087 GRCh37: 10:97413109-97413109
GRCh38: 10:95653352-95653352
43 ALDH18A1 NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr) SNV Uncertain Significance
1417490 GRCh37: 10:97366578-97366578
GRCh38: 10:95606821-95606821
44 ALDH18A1 NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) SNV Uncertain Significance
1366482 GRCh37: 10:97385193-97385193
GRCh38: 10:95625436-95625436
45 ALDH18A1 NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=) SNV Uncertain Significance
1417230 GRCh37: 10:97380875-97380875
GRCh38: 10:95621118-95621118
46 ALDH18A1 NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe) SNV Uncertain Significance
1434093 GRCh37: 10:97366647-97366647
GRCh38: 10:95606890-95606890
47 ALDH18A1 NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu) SNV Uncertain Significance
1438548 GRCh37: 10:97392806-97392806
GRCh38: 10:95633049-95633049
48 ALDH18A1 NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp) SNV Uncertain Significance
1433375 GRCh37: 10:97393250-97393250
GRCh38: 10:95633493-95633493
49 ALDH18A1 NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys) SNV Uncertain Significance
1450626 GRCh37: 10:97402772-97402772
GRCh38: 10:95643015-95643015
50 ALDH18A1 NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) SNV Uncertain Significance
860228 rs768985400 GRCh37: 10:97388171-97388171
GRCh38: 10:95628414-95628414

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Dominant 3:

73
# Symbol AA change Variation ID SNP ID
1 ALDH18A1 p.Arg138Leu VAR_075887 rs863225045
2 ALDH18A1 p.Arg138Gln VAR_075888 rs863225045
3 ALDH18A1 p.Arg138Trp VAR_075889 rs863225044

Expression for Cutis Laxa, Autosomal Dominant 3

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Dominant 3.

Pathways for Cutis Laxa, Autosomal Dominant 3

Pathways related to Cutis Laxa, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 PYCR1 PI4K2A MTHFS MTHFD2L AMT ALDH18A1
2
Show member pathways
12.46 PYCR1 AMT ALDH18A1
4
Show member pathways
11.31 PYCR1 ALDH18A1
5
Show member pathways
11.24 PYCR1 ALDH18A1
6
Show member pathways
10.93 MTHFS AMT
7
Show member pathways
10.42 PYCR1 ALDH18A1

GO Terms for Cutis Laxa, Autosomal Dominant 3

Cellular components related to Cutis Laxa, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.56 PYCR1 MTHFS MTHFD2L AMT
2 mitochondrion GO:0005739 9.4 PYCR1 PI4K2A MTHFS MTHFD2L AMT ALDH18A1

Biological processes related to Cutis Laxa, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamate metabolic process GO:0006536 9.67 MTHFS ALDH18A1
2 folic acid metabolic process GO:0046655 9.62 MTHFD2L MTHFS
3 tetrahydrofolate interconversion GO:0035999 9.56 MTHFS MTHFD2L
4 L-proline biosynthetic process GO:0055129 9.46 PYCR1 ALDH18A1
5 proline biosynthetic process GO:0006561 9.26 PYCR1 ALDH18A1
6 amino acid biosynthetic process GO:0008652 8.8 PYCR1 MTHFD2L ALDH18A1

Molecular functions related to Cutis Laxa, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.8 PYCR1 MTHFD2L ALDH18A1

Sources for Cutis Laxa, Autosomal Dominant 3

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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