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

ADCL3 MCID: CTS041 MIFTS: 27	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, Skin diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cutis Laxa, Autosomal Dominant 3

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 3:

Name: Cutis Laxa, Autosomal Dominant 3 ⁵⁸ ³⁰ ⁶

Adcl3 ⁵⁸ ¹² ⁷⁶

Cutis Laxa, Autosomal Dominant, 3 ⁷⁶

Autosomal Dominant Cutis Laxa 3 ¹²

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

cutis laxa, autosomal dominant 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Eye diseases Neuronal diseases Bone diseases Cardiovascular diseases Muscle diseases Gastrointestinal diseases Mental diseases Blood diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

External Ids:

Disease Ontology ¹² DOID:0070131

OMIM ⁵⁸ 616603

MeSH ⁴⁵ D003483

ICD10 ³⁴ Q82.8

MedGen ⁴³ C4225268 CN233153

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Summaries for Cutis Laxa, Autosomal Dominant 3

UniProtKB/Swiss-Prot : ⁷⁶ Cutis laxa, autosomal dominant, 3: 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, is also known as adcl3. An important gene associated with Cutis Laxa, Autosomal Dominant 3 is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include skin, bone and eye, and related phenotypes are osteopenia and strabismus

Disease Ontology : ¹² 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.

OMIM : ⁵⁸ 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)

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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
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

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Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 3

Human phenotypes related to Cutis Laxa, Autosomal Dominant 3:

³³ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	osteopenia ³³	occasional (7.5%)	HP:0000938
2	strabismus ³³	occasional (7.5%)	HP:0000486
3	wormian bones ³³	occasional (7.5%)	HP:0002645
4	talipes equinovarus ³³	occasional (7.5%)	HP:0001762
5	autistic behavior ³³	occasional (7.5%)	HP:0000729
6	unilateral renal agenesis ³³	occasional (7.5%)	HP:0000122
7	aortic regurgitation ³³	occasional (7.5%)	HP:0001659
8	small foramen magnum ³³	occasional (7.5%)	HP:0002677
9	low-set ears ³³		HP:0000369
10	global developmental delay ³³		HP:0001263
11	corneal opacity ³³		HP:0007957
12	microcephaly ³³		HP:0000252
13	prominent forehead ³³		HP:0011220
14	feeding difficulties ³³		HP:0011968
15	hernia ³³		HP:0100790
16	intrauterine growth retardation ³³		HP:0001511
17	protruding ear ³³		HP:0000411
18	hip dislocation ³³		HP:0002827
19	broad forehead ³³		HP:0000337
20	adducted thumb ³³		HP:0001181
21	triangular face ³³		HP:0000325
22	generalized hypotonia ³³		HP:0001290
23	brisk reflexes ³³		HP:0001348
24	delayed cranial suture closure ³³		HP:0000270
25	cutis laxa ³³		HP:0000973
26	premature skin wrinkling ³³		HP:0100678
27	psychomotor retardation ³³		HP:0025356
28	developmental cataract ³³		HP:0000519

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
low-set ears
prominent ears

Head And Neck Face:
prominent forehead
broad forehead
triangular face

Prenatal Manifestations:
intrauterine growth retardation

Neurologic Central Nervous System:
brisk reflexes
hypotonia
psychomotor retardation
cranial vessel tortuosity
foramen magnum stenosis (in some patients)

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

Abdomen Gastrointestinal:
feeding difficulties

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

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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 ³⁰	ALDH18A1

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Anatomical Context for Cutis Laxa, Autosomal Dominant 3

MalaCards organs/tissues related to Cutis Laxa, Autosomal Dominant 3:

⁴²

Skin, Bone, Eye

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Publications for Cutis Laxa, Autosomal Dominant 3

Articles related to Cutis Laxa, Autosomal Dominant 3:

#	Title	Authors	Year
1	Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. ( 26320891 )	Fischer-Zirnsak B...Kornak U	2015
2	New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. ( 9643297 )	Jukkola A...Pajunen L	1998

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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	PubmedIds
1	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	1329.48	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	26320891 9643297

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Variations for Cutis Laxa, Autosomal Dominant 3

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

⁷⁶

#	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

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

⁶ (show top 50) (show all 66)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ALDH18A1	NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs864321670	GRCh38	Chromosome 10, 95633012: 95633012
2	ALDH18A1	NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs864321670	GRCh37	Chromosome 10, 97392769: 97392769
3	ALDH18A1	NM_002860.3(ALDH18A1): c.412C> T (p.Arg138Trp)	single nucleotide variant	Pathogenic	rs863225044	GRCh38	Chromosome 10, 95637328: 95637328
4	ALDH18A1	NM_002860.3(ALDH18A1): c.412C> T (p.Arg138Trp)	single nucleotide variant	Pathogenic	rs863225044	GRCh37	Chromosome 10, 97397085: 97397085
5	ALDH18A1	NM_002860.3(ALDH18A1): c.413G> A (p.Arg138Gln)	single nucleotide variant	Pathogenic	rs863225045	GRCh38	Chromosome 10, 95637327: 95637327
6	ALDH18A1	NM_002860.3(ALDH18A1): c.413G> A (p.Arg138Gln)	single nucleotide variant	Pathogenic	rs863225045	GRCh37	Chromosome 10, 97397084: 97397084
7	ALDH18A1	NM_002860.3(ALDH18A1): c.413G> T (p.Arg138Leu)	single nucleotide variant	Pathogenic	rs863225045	GRCh38	Chromosome 10, 95637327: 95637327
8	ALDH18A1	NM_002860.3(ALDH18A1): c.413G> T (p.Arg138Leu)	single nucleotide variant	Pathogenic	rs863225045	GRCh37	Chromosome 10, 97397084: 97397084
9	ALDH18A1	NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=)	single nucleotide variant	Benign/Likely benign	rs41291566	GRCh38	Chromosome 10, 95627491: 95627491
10	ALDH18A1	NM_002860.3(ALDH18A1): c.1029T> C (p.Ile343=)	single nucleotide variant	Benign/Likely benign	rs41291566	GRCh37	Chromosome 10, 97387248: 97387248
11	ALDH18A1	NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144816455	GRCh38	Chromosome 10, 95621190: 95621190
12	ALDH18A1	NM_002860.3(ALDH18A1): c.1308G> A (p.Leu436=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144816455	GRCh37	Chromosome 10, 97380947: 97380947
13	ALDH18A1	NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=)	single nucleotide variant	Benign/Likely benign	rs117709404	GRCh38	Chromosome 10, 95621169: 95621169
14	ALDH18A1	NM_002860.3(ALDH18A1): c.1329C> T (p.Ile443=)	single nucleotide variant	Benign/Likely benign	rs117709404	GRCh37	Chromosome 10, 97380926: 97380926
15	ALDH18A1	NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150472102	GRCh38	Chromosome 10, 95637159: 95637159
16	ALDH18A1	NM_002860.3(ALDH18A1): c.492C> T (p.Ala164=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150472102	GRCh37	Chromosome 10, 97396916: 97396916
17	ALDH18A1	NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=)	single nucleotide variant	Benign/Likely benign	rs11541780	GRCh37	Chromosome 10, 97373754: 97373754
18	ALDH18A1	NM_002860.3(ALDH18A1): c.1770C> T (p.Ser590=)	single nucleotide variant	Benign/Likely benign	rs11541780	GRCh38	Chromosome 10, 95613997: 95613997
19	ALDH18A1	NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr)	single nucleotide variant	Benign/Likely benign	rs3765571	GRCh38	Chromosome 10, 95626740: 95626740
20	ALDH18A1	NM_002860.3(ALDH18A1): c.1115C> A (p.Ser372Tyr)	single nucleotide variant	Benign/Likely benign	rs3765571	GRCh37	Chromosome 10, 97386497: 97386497
21	ALDH18A1	NM_002860.3(ALDH18A1): c.2207-3C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149309642	GRCh37	Chromosome 10, 97366703: 97366703
22	ALDH18A1	NM_002860.3(ALDH18A1): c.2207-3C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149309642	GRCh38	Chromosome 10, 95606946: 95606946
23	ALDH18A1	NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=)	single nucleotide variant	Benign/Likely benign	rs1804934	GRCh37	Chromosome 10, 97371146: 97371146
24	ALDH18A1	NM_002860.3(ALDH18A1): c.1977C> T (p.Ser659=)	single nucleotide variant	Benign/Likely benign	rs1804934	GRCh38	Chromosome 10, 95611389: 95611389
25	ALDH18A1	NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=)	single nucleotide variant	Likely benign	rs148601288	GRCh37	Chromosome 10, 97366675: 97366675
26	ALDH18A1	NM_002860.3(ALDH18A1): c.2232G> A (p.Ser744=)	single nucleotide variant	Likely benign	rs148601288	GRCh38	Chromosome 10, 95606918: 95606918
27	ALDH18A1	NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs374052426	GRCh37	Chromosome 10, 97370000: 97370000
28	ALDH18A1	NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs374052426	GRCh38	Chromosome 10, 95610243: 95610243
29	ALDH18A1	NM_002860.3(ALDH18A1): c.1867G> A (p.Asp623Asn)	single nucleotide variant	Uncertain significance	rs770815414	GRCh37	Chromosome 10, 97373555: 97373555
30	ALDH18A1	NM_002860.3(ALDH18A1): c.1867G> A (p.Asp623Asn)	single nucleotide variant	Uncertain significance	rs770815414	GRCh38	Chromosome 10, 95613798: 95613798
31	ALDH18A1	NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser)	single nucleotide variant	not provided	rs768964431	GRCh37	Chromosome 10, 97371181: 97371181
32	ALDH18A1	NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser)	single nucleotide variant	not provided	rs768964431	GRCh38	Chromosome 10, 95611424: 95611424
33	ALDH18A1	NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val)	single nucleotide variant	Uncertain significance	rs529294368	GRCh37	Chromosome 10, 97376271: 97376271
34	ALDH18A1	NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val)	single nucleotide variant	Uncertain significance	rs529294368	GRCh38	Chromosome 10, 95616514: 95616514
35	ALDH18A1	NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val)	single nucleotide variant	Uncertain significance	rs201428777	GRCh37	Chromosome 10, 97396857: 97396857
36	ALDH18A1	NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val)	single nucleotide variant	Uncertain significance	rs201428777	GRCh38	Chromosome 10, 95637100: 95637100
37	ALDH18A1	NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly)	single nucleotide variant	Uncertain significance	rs1231068982	GRCh37	Chromosome 10, 97373747: 97373747
38	ALDH18A1	NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly)	single nucleotide variant	Uncertain significance	rs1231068982	GRCh38	Chromosome 10, 95613990: 95613990
39	ALDH18A1	NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg)	single nucleotide variant	Uncertain significance	rs368147360	GRCh37	Chromosome 10, 97388190: 97388190
40	ALDH18A1	NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg)	single nucleotide variant	Uncertain significance	rs368147360	GRCh38	Chromosome 10, 95628433: 95628433
41	ALDH18A1	NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val)	single nucleotide variant	Uncertain significance	rs142712849	GRCh37	Chromosome 10, 97380991: 97380991
42	ALDH18A1	NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val)	single nucleotide variant	Uncertain significance	rs142712849	GRCh38	Chromosome 10, 95621234: 95621234
43	ALDH18A1	NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile)	single nucleotide variant	Uncertain significance	rs1346763871	GRCh37	Chromosome 10, 97387262: 97387262
44	ALDH18A1	NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile)	single nucleotide variant	Uncertain significance	rs1346763871	GRCh38	Chromosome 10, 95627505: 95627505
45	ALDH18A1	NM_002860.3(ALDH18A1): c.678C> T (p.Val226=)	single nucleotide variant	Likely benign	rs772829720	GRCh37	Chromosome 10, 97393287: 97393287
46	ALDH18A1	NM_002860.3(ALDH18A1): c.678C> T (p.Val226=)	single nucleotide variant	Likely benign	rs772829720	GRCh38	Chromosome 10, 95633530: 95633530
47	ALDH18A1	NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln)	single nucleotide variant	Uncertain significance	rs200452017	GRCh37	Chromosome 10, 97376235: 97376235
48	ALDH18A1	NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln)	single nucleotide variant	Uncertain significance	rs200452017	GRCh38	Chromosome 10, 95616478: 95616478
49	ALDH18A1	NM_002860.3(ALDH18A1): c.428C> T (p.Ser143Leu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 10, 97397069: 97397069
50	ALDH18A1	NM_002860.3(ALDH18A1): c.428C> T (p.Ser143Leu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 10, 95637312: 95637312

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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

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GO Terms for Cutis Laxa, Autosomal Dominant 3

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Cutis Laxa, Autosomal Dominant 3 (ADCL3)

Aliases & Classifications for Cutis Laxa, Autosomal Dominant 3

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cutis Laxa, Autosomal Dominant 3

Related Diseases for Cutis Laxa, Autosomal Dominant 3

Diseases in the Cutis Laxa family:

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:

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

MalaCards organs/tissues related to Cutis Laxa, Autosomal Dominant 3:

Publications for Cutis Laxa, Autosomal Dominant 3

Articles related to Cutis Laxa, Autosomal Dominant 3:

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

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

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

Expression for Cutis Laxa, Autosomal Dominant 3

Pathways for Cutis Laxa, Autosomal Dominant 3

GO Terms for Cutis Laxa, Autosomal Dominant 3

Sources for Cutis Laxa, Autosomal Dominant 3