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

ADCL3 MCID: CTS041 MIFTS: 26	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 Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Cutis Laxa, Autosomal Dominant 3

MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 3:

Name: Cutis Laxa, Autosomal Dominant 3 ⁵⁷ ²⁹ ⁶

Adcl3 ⁵⁷ ¹² ⁷⁵

Cutis Laxa, Autosomal Dominant, 3 ⁷⁵

Autosomal Dominant Cutis Laxa 3 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

External Ids:

OMIM ⁵⁷ 616603

Disease Ontology ¹² DOID:0070131

ICD10 ³³ Q82.8

MedGen ⁴² C4225268 CN233153

MeSH ⁴⁴ D003483

Sources

Summaries for Cutis Laxa, Autosomal Dominant 3

UniProtKB/Swiss-Prot : ⁷⁵ 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 low-set ears and osteopenia

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 : 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)

Sources

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

Sources

Symptoms & Phenotypes for Cutis Laxa, Autosomal Dominant 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

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 Limbs:
joint hyperlaxity

Abdomen External Features:
hernias

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

Genitourinary Kidneys:
unilateral renal agenesis (rare)

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 Hands:
adducted thumbs
clenched fingers

Skeletal:
osteopenia (in some patients)

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

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

Growth Other:
prenatal and postnatal growth retardation

Skeletal Spine:
abnormal spine curvature (in some patients)

Clinical features from OMIM:

616603

Human phenotypes related to Cutis Laxa, Autosomal Dominant 3:

³² (show all 27)

#	Description	HPO Frequency	HPO Source Accession
1	low-set ears ³²		HP:0000369
2	osteopenia ³²	occasional (7.5%)	HP:0000938
3	global developmental delay ³²		HP:0001263
4	corneal opacity ³²		HP:0007957
5	microcephaly ³²		HP:0000252
6	prominent forehead ³²		HP:0011220
7	feeding difficulties ³²		HP:0011968
8	hernia ³²		HP:0100790
9	strabismus ³²	occasional (7.5%)	HP:0000486
10	wormian bones ³²	occasional (7.5%)	HP:0002645
11	intrauterine growth retardation ³²		HP:0001511
12	protruding ear ³²		HP:0000411
13	talipes equinovarus ³²	occasional (7.5%)	HP:0001762
14	hip dislocation ³²		HP:0002827
15	broad forehead ³²		HP:0000337
16	adducted thumb ³²		HP:0001181
17	triangular face ³²		HP:0000325
18	generalized hypotonia ³²		HP:0001290
19	brisk reflexes ³²		HP:0001348
20	autistic behavior ³²	occasional (7.5%)	HP:0000729
21	unilateral renal agenesis ³²	occasional (7.5%)	HP:0000122
22	delayed cranial suture closure ³²		HP:0000270
23	aortic regurgitation ³²	occasional (7.5%)	HP:0001659
24	congenital cataract ³²		HP:0000519
25	cutis laxa ³²		HP:0000973
26	premature skin wrinkling ³²		HP:0100678
27	small foramen magnum ³²	occasional (7.5%)	HP:0002677

Sources

Drugs & Therapeutics for Cutis Laxa, Autosomal Dominant 3

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

Sources

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 ²⁹	ALDH18A1

Sources

Anatomical Context for Cutis Laxa, Autosomal Dominant 3

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

⁴¹

Skin, Bone, Eye

Sources

Publications for Cutis Laxa, Autosomal Dominant 3

Sources

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	1329.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26320891 9643297

Sources

Variations for Cutis Laxa, Autosomal Dominant 3

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

⁷⁵

#	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 64)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ALDH18A1	NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln)	single nucleotide variant	Pathogenic	rs864321670	GRCh38	Chromosome 10, 95633012: 95633012
2	ALDH18A1	NM_002860.3(ALDH18A1): c.755G> A (p.Arg252Gln)	single nucleotide variant	Pathogenic	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	Likely benign	rs374052426	GRCh37	Chromosome 10, 97370000: 97370000
28	ALDH18A1	NM_002860.3(ALDH18A1): c.2160C> T (p.Phe720=)	single nucleotide variant	Likely benign	rs374052426	GRCh38	Chromosome 10, 95610243: 95610243
29	ALDH18A1	NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser)	single nucleotide variant	not provided	rs768964431	GRCh37	Chromosome 10, 97371181: 97371181
30	ALDH18A1	NM_002860.3(ALDH18A1): c.1942C> T (p.Pro648Ser)	single nucleotide variant	not provided	rs768964431	GRCh38	Chromosome 10, 95611424: 95611424
31	ALDH18A1	NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val)	single nucleotide variant	Uncertain significance	rs529294368	GRCh37	Chromosome 10, 97376271: 97376271
32	ALDH18A1	NM_002860.3(ALDH18A1): c.1568C> T (p.Ala523Val)	single nucleotide variant	Uncertain significance	rs529294368	GRCh38	Chromosome 10, 95616514: 95616514
33	ALDH18A1	NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val)	single nucleotide variant	Uncertain significance	rs201428777	GRCh37	Chromosome 10, 97396857: 97396857
34	ALDH18A1	NM_002860.3(ALDH18A1): c.551C> T (p.Ala184Val)	single nucleotide variant	Uncertain significance	rs201428777	GRCh38	Chromosome 10, 95637100: 95637100
35	ALDH18A1	NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 10, 97373747: 97373747
36	ALDH18A1	NM_002860.3(ALDH18A1): c.1777A> G (p.Ser593Gly)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 10, 95613990: 95613990
37	ALDH18A1	NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg)	single nucleotide variant	Uncertain significance	rs368147360	GRCh37	Chromosome 10, 97388190: 97388190
38	ALDH18A1	NM_002860.3(ALDH18A1): c.868G> A (p.Gly290Arg)	single nucleotide variant	Uncertain significance	rs368147360	GRCh38	Chromosome 10, 95628433: 95628433
39	ALDH18A1	NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val)	single nucleotide variant	Uncertain significance	rs142712849	GRCh38	Chromosome 10, 95621234: 95621234
40	ALDH18A1	NM_002860.3(ALDH18A1): c.1264C> G (p.Leu422Val)	single nucleotide variant	Uncertain significance	rs142712849	GRCh37	Chromosome 10, 97380991: 97380991
41	ALDH18A1	NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 10, 97387262: 97387262
42	ALDH18A1	NM_002860.3(ALDH18A1): c.1015G> A (p.Val339Ile)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 10, 95627505: 95627505
43	ALDH18A1	NM_002860.3(ALDH18A1): c.678C> T (p.Val226=)	single nucleotide variant	Likely benign	rs772829720	GRCh37	Chromosome 10, 97393287: 97393287
44	ALDH18A1	NM_002860.3(ALDH18A1): c.678C> T (p.Val226=)	single nucleotide variant	Likely benign	rs772829720	GRCh38	Chromosome 10, 95633530: 95633530
45	ALDH18A1	NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln)	single nucleotide variant	Uncertain significance	rs200452017	GRCh37	Chromosome 10, 97376235: 97376235
46	ALDH18A1	NM_002860.3(ALDH18A1): c.1604T> A (p.Leu535Gln)	single nucleotide variant	Uncertain significance	rs200452017	GRCh38	Chromosome 10, 95616478: 95616478
47	ALDH18A1	NM_002860.3(ALDH18A1): c.428C> T (p.Ser143Leu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 10, 97397069: 97397069
48	ALDH18A1	NM_002860.3(ALDH18A1): c.428C> T (p.Ser143Leu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 10, 95637312: 95637312
49	ALDH18A1	NM_002860.3(ALDH18A1): c.1393G> C (p.Glu465Gln)	single nucleotide variant	Uncertain significance	rs757876226	GRCh37	Chromosome 10, 97380862: 97380862
50	ALDH18A1	NM_002860.3(ALDH18A1): c.1393G> C (p.Glu465Gln)	single nucleotide variant	Uncertain significance	rs757876226	GRCh38	Chromosome 10, 95621105: 95621105

Sources

Expression for Cutis Laxa, Autosomal Dominant 3

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

Sources

Pathways for Cutis Laxa, Autosomal Dominant 3

Sources

GO Terms for Cutis Laxa, Autosomal Dominant 3

Sources

Sources for Cutis Laxa, Autosomal Dominant 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Cutis Laxa, Autosomal Dominant 3:

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

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