Cutis Laxa, Autosomal Dominant 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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.

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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:

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Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 3

Human phenotypes related to Cutis Laxa, Autosomal Dominant 3:

³⁰ (show all 28)

#	Description	HPO 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

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Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 3

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

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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

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Anatomical Context for Cutis Laxa, Autosomal Dominant 3

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

MalaCards : Skin

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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	Fischer-Zirnsak B...Kornak U	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	Jukkola A...Pajunen L	9643297	1998
3	Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. ⁵	Koh K...Japan Spastic Paraplegia Research Consortium	29915212	2018
4	Genetic diagnosis of Mendelian disorders via RNA sequencing. ⁵	Kremer LS...Prokisch H	28604674	2017
5	Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. ⁵	Stavropoulos DJ...Marshall CR	28567303	2016
6	Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. ⁵	Fischer B...Kornak U	24913064	2014
7	Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). ⁵	Skidmore DL...Robertson SP	21739576	2011
8	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	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	Iancu ME...Albu DN	35770839	2022
10	SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. ⁶²	Koh K...Takiyama Y	33573605	2021
11	Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1. ⁶²	Kalmar T...Sztriha L	32798076	2021
12	Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. ⁶²	Marco-Marin C...Rubio V	32017139	2020

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Genes for Cutis Laxa, Autosomal Dominant 3

Genes related to Cutis Laxa, Autosomal Dominant 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	1340.29	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9643297 21739576 26320891 (more) 16199547 24913064 28567303 28604674 29915212
2	PYCR1	Pyrroline-5-Carboxylate Reductase 1	Protein Coding	5.21	DISEASES inferred ¹⁴
3	MTHFS	Methenyltetrahydrofolate Synthetase	Protein Coding	5.17	DISEASES inferred ¹⁴
4	MTHFD2L	Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2 Like	Protein Coding	4.86	DISEASES inferred ¹⁴
5	PI4K2A	Phosphatidylinositol 4-Kinase Type 2 Alpha	Protein Coding	4.83	DISEASES inferred ¹⁴
6	AMT	Aminomethyltransferase	Protein Coding	4.83	DISEASES inferred ¹⁴
7	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	4.68	DISEASES inferred ¹⁴

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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

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Expression for Cutis Laxa, Autosomal Dominant 3

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

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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	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	12.56	PYCR1 PI4K2A MTHFS MTHFD2L AMT ALDH18A1
2	Regulation of expression of SLITs and ROBOs ⁶⁶ Show member pathways Metabolism of amino acids and derivatives ⁶⁶ Signaling by ROBO receptors ⁶⁶	12.46	PYCR1 AMT ALDH18A1
3	One-carbon metabolism and related pathways ⁷⁴ Show member pathways dTMP de novo biosynthesis (mitochondrial) ⁶¹ Trans-sulfuration, one-carbon metabolism and related pathways ⁷⁴	11.45	MTHFD2L AMT
4	superpathway of L-citrulline metabolism ⁶¹ Show member pathways citrulline-nitric oxide cycle ⁶¹ Effects of nitric oxide ⁷⁴ L-citrulline biosynthesis ⁶¹ nitric oxide biosynthesis II (mammals) ⁶¹ Nitric oxide metabolism in cystic fibrosis ⁷⁴ urea cycle ⁶¹ Urea cycle ⁶⁶ Urea cycle and associated pathways ⁷⁴ Urea cycle and metabolism of amino groups ⁷⁴	11.31	PYCR1 ALDH18A1
5	Amino acid metabolism ⁷⁴ Show member pathways Amino acid metabolism pathway excerpt: histidine catabolism extension ⁷⁴	11.24	PYCR1 ALDH18A1
6	Methotrexate Pathway (Cancer Cell), Pharmacodynamics and Pharmacokinetics ⁶⁰ Show member pathways Antimetabolite Pathway - Folate Cycle, Pharmacodynamics ⁶⁰ One-carbon metabolism ⁷⁴ tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate ⁶¹	10.93	MTHFS AMT
7	Glutamate and glutamine metabolism ⁶⁶ Show member pathways L-glutamate and L-glutamine biosynthesis ⁶¹ L-ornithine biosynthesis II ⁶¹ L-proline biosynthesis I ⁶¹ ornithine de novo biosynthesis ⁶¹ proline biosynthesis ⁶¹	10.42	PYCR1 ALDH18A1

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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

Sources for Cutis Laxa, Autosomal Dominant 3

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Cutis Laxa, Autosomal Dominant 3 (ADCL3)

Aliases & Classifications for Cutis Laxa, Autosomal Dominant 3

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 3:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Cutis Laxa, Autosomal Dominant 3

Related Diseases for Cutis Laxa, Autosomal Dominant 3

Diseases in the Cutis Laxa family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 3

Genetic Tests for Cutis Laxa, Autosomal Dominant 3

Genetic tests related to Cutis Laxa, Autosomal Dominant 3:

Anatomical Context for Cutis Laxa, Autosomal Dominant 3

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Genes for Cutis Laxa, Autosomal Dominant 3

Genes related to Cutis Laxa, Autosomal Dominant 3 (1 elite genes):

Variations for Cutis Laxa, Autosomal Dominant 3

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

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

Expression 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:

GO Terms for Cutis Laxa, Autosomal Dominant 3

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

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

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

Sources for Cutis Laxa, Autosomal Dominant 3