Cutis Laxa, Autosomal Recessive, Type Ib disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ARCL1B MCID: CTS037 MIFTS: 35	Cutis Laxa, Autosomal Recessive, Type Ib (ARCL1B) 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 Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Ib

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

Name: Cutis Laxa, Autosomal Recessive, Type Ib ⁵⁸ ¹³ ⁷⁴

Arcl1b ⁵⁸ ¹² ⁷⁶

Autosomal Recessive Cutis Laxa Type Ib ¹² ¹⁵

Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency ⁶⁰

Cutis Laxa, Autosomal Recessive, Type 1b ⁴¹

Cutis Laxa Autosomal Recessive Type Ib ⁷⁶

Cutis Laxa, Autosomal Recessive, 1b ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

lethal arteriopathy syndrome due to fibulin-4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
relatively mild cutis laxa, associated with severe vascular abnormalities
massive aortic aneurysm can cause airway compression in affected infants

HPO:

³³

cutis laxa, autosomal recessive, type ib:
Inheritance autosomal recessive inheritance

Classifications:

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

Orphanet: ⁶⁰

Rare circulatory system diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070133

OMIM ⁵⁸ 614437

MeSH ⁴⁵ D003483

ICD10 ³⁴ Q82.8

Orphanet ⁶⁰ ORPHA314718

MedGen ⁴³ C3280798 CN120647

UMLS ⁷⁴ C3280798

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Summaries for Cutis Laxa, Autosomal Recessive, Type Ib

UniProtKB/Swiss-Prot : ⁷⁶ Cutis laxa, autosomal recessive, 1B: 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. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Ib, also known as arcl1b, is related to efemp2-related cutis laxa and cutis laxa. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ib is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include skin, eye and brain, and related phenotypes are depressed nasal bridge and microcephaly

Disease Ontology : ¹² An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.

OMIM : ⁵⁸ Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (614437)

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Related Diseases for Cutis Laxa, Autosomal Recessive, Type Ib

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 Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	efemp2-related cutis laxa	11.5
2	cutis laxa	9.9	EFEMP2 ELN
3	arterial tortuosity syndrome	9.9	EFEMP2 ELN
4	aortic aneurysm, familial thoracic 1	9.9	EFEMP2 ELN
5	phacogenic glaucoma	9.8	ELN LOX
6	menkes disease	9.7	ELN LOX
7	exfoliation syndrome	9.7	ELN LOX
8	intracranial aneurysm	9.6	ELN LOX
9	aortic disease	9.6	EFEMP2 ELN
10	autosomal recessive cutis laxa type i	9.4	EFEMP2 ELN LOX
11	aortic aneurysm	9.4	EFEMP2 ELN LOX

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

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

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

³³ (show all 30)

#	Description	HPO Frequency	HPO Source Accession
1	depressed nasal bridge ³³	occasional (7.5%)	HP:0005280
2	microcephaly ³³	occasional (7.5%)	HP:0000252
3	convex nasal ridge ³³	occasional (7.5%)	HP:0000444
4	oligohydramnios ³³	occasional (7.5%)	HP:0001562
5	overgrowth ³³	occasional (7.5%)	HP:0001548
6	bradycardia ³³	occasional (7.5%)	HP:0001662
7	hypertelorism ³³		HP:0000316
8	low-set ears ³³		HP:0000369
9	pectus excavatum ³³		HP:0000767
10	high palate ³³		HP:0000218
11	inguinal hernia ³³		HP:0000023
12	prominent forehead ³³		HP:0011220
13	emphysema ³³		HP:0002097
14	micrognathia ³³		HP:0000347
15	abnormality of the pinna ³³		HP:0000377
16	arachnodactyly ³³		HP:0001166
17	joint hypermobility ³³		HP:0001382
18	downslanted palpebral fissures ³³		HP:0000494
19	bulbous nose ³³		HP:0000414
20	proptosis ³³		HP:0000520
21	congenital diaphragmatic hernia ³³		HP:0000776
22	generalized hypotonia ³³		HP:0001290
23	aortic aneurysm ³³		HP:0004942
24	narrow palpebral fissure ³³		HP:0045025
25	cutis laxa ³³		HP:0000973
26	soft skin ³³		HP:0000977
27	pulmonary insufficiency ³³		HP:0010444
28	pulmonary artery aneurysm ³³		HP:0004937
29	prominence of the premaxilla ³³		HP:0010759
30	generalized arterial tortuosity ³³		HP:0004955

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
low-set ears
dysplastic ears

Genitourinary External Genitalia Male:
inguinal hernia

Respiratory Lung:
emphysema

Skeletal Feet:
arachnodactyly

Skin Nails Hair Skin:
cutis laxa
velvety skin
normal scarring

Head And Neck Eyes:
downslanting palpebral fissures
prominent eyes
small palpebral fissures
hypertelorism, mild

Head And Neck Nose:
bulbous nasal tip (in some patients)
depressed nasal bridge (in some patients)
hooked nose (in some patients)

Chest Diaphragm:
diaphragmatic hernia
hypoplastic diaphragm

Growth Other:
fetal overgrowth (in some patients)

Skin Nails Hair Skin Histology:
vascularization increased in upper dermis
collagen bundles smaller than normal
underdeveloped elastic fibers, severe

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Face:
prominent forehead
micrognathia
prominent premaxilla

Skeletal Hands:
arachnodactyly
contractures of third to fifth fingers

Cardiovascular Vascular:
aortic aneurysm
pulmonary artery aneurysm
arterial aneurysms, multiple
arterial tortuosity, general
venous tortuosity
more

Neurologic Central Nervous System:
hypotonia
brain hemorrhage

Head And Neck Mouth:
high-arched palate

Head And Neck Head:
microcephaly (rare)

Skeletal:
fractures at birth
joint hypermobility, generalized

Cardiovascular Heart:
thickened myocardium (rare)
bradycardia (rare)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios (in some patients)

Clinical features from OMIM:

614437

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

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

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Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Ib

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Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Ib

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

⁴²

Skin, Eye, Brain, Bone

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Publications for Cutis Laxa, Autosomal Recessive, Type Ib

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Genes for Cutis Laxa, Autosomal Recessive, Type Ib

Genes related to Cutis Laxa, Autosomal Recessive, Type Ib (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	1568.26	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ DISEASES inferred ¹⁵
2	LOX	Lysyl Oxidase	Protein Coding	15.5	DISEASES inferred ¹⁵
3	ELN	Elastin	Protein Coding	15.5	DISEASES inferred ¹⁵

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Variations for Cutis Laxa, Autosomal Recessive, Type Ib

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

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	EFEMP2	p.Glu57Lys	VAR_027019	rs119489101
2	EFEMP2	p.Cys267Tyr	VAR_067069	rs193302866
3	EFEMP2	p.Arg279Cys	VAR_067070	rs119489102

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

⁶ (show top 50) (show all 148)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EFEMP2	NM_016938.4(EFEMP2): c.169G> A (p.Glu57Lys)	single nucleotide variant	Pathogenic	rs119489101	GRCh37	Chromosome 11, 65638826: 65638826
2	EFEMP2	NM_016938.4(EFEMP2): c.169G> A (p.Glu57Lys)	single nucleotide variant	Pathogenic	rs119489101	GRCh38	Chromosome 11, 65871355: 65871355
3	EFEMP2	NM_016938.4(EFEMP2): c.835C> T (p.Arg279Cys)	single nucleotide variant	Pathogenic	rs119489102	GRCh37	Chromosome 11, 65635993: 65635993
4	EFEMP2	NM_016938.4(EFEMP2): c.835C> T (p.Arg279Cys)	single nucleotide variant	Pathogenic	rs119489102	GRCh38	Chromosome 11, 65868522: 65868522
5	EFEMP2	NM_016938.4(EFEMP2): c.1070_1073dupCCGC (p.Asp359Argfs)	duplication	Pathogenic	rs193302865	GRCh37	Chromosome 11, 65635429: 65635432
6	EFEMP2	NM_016938.4(EFEMP2): c.1070_1073dupCCGC (p.Asp359Argfs)	duplication	Pathogenic	rs193302865	GRCh38	Chromosome 11, 65867958: 65867961
7	EFEMP2	NM_016938.4(EFEMP2): c.1189G> A (p.Ala397Thr)	single nucleotide variant	Pathogenic	rs193302868	GRCh37	Chromosome 11, 65634532: 65634532
8	EFEMP2	NM_016938.4(EFEMP2): c.1189G> A (p.Ala397Thr)	single nucleotide variant	Pathogenic	rs193302868	GRCh38	Chromosome 11, 65867061: 65867061
9	EFEMP2	NM_016938.4(EFEMP2): c.376G> A (p.Glu126Lys)	single nucleotide variant	Pathogenic	rs193302867	GRCh37	Chromosome 11, 65638121: 65638121
10	EFEMP2	NM_016938.4(EFEMP2): c.376G> A (p.Glu126Lys)	single nucleotide variant	Pathogenic	rs193302867	GRCh38	Chromosome 11, 65870650: 65870650
11	EFEMP2	NM_016938.4(EFEMP2): c.377A> T (p.Glu126Val)	single nucleotide variant	Pathogenic	rs193302869	GRCh37	Chromosome 11, 65638120: 65638120
12	EFEMP2	NM_016938.4(EFEMP2): c.377A> T (p.Glu126Val)	single nucleotide variant	Pathogenic	rs193302869	GRCh38	Chromosome 11, 65870649: 65870649
13	EFEMP2	NM_016938.4(EFEMP2): c.577delC (p.Gln193Serfs)	deletion	Pathogenic	rs193302870	GRCh37	Chromosome 11, 65637622: 65637622
14	EFEMP2	NM_016938.4(EFEMP2): c.577delC (p.Gln193Serfs)	deletion	Pathogenic	rs193302870	GRCh38	Chromosome 11, 65870151: 65870151
15	EFEMP2	NM_016938.4(EFEMP2): c.608A> C (p.Asp203Ala)	single nucleotide variant	Pathogenic	rs193302864	GRCh37	Chromosome 11, 65637447: 65637447
16	EFEMP2	NM_016938.4(EFEMP2): c.608A> C (p.Asp203Ala)	single nucleotide variant	Pathogenic	rs193302864	GRCh38	Chromosome 11, 65869976: 65869976
17	EFEMP2	NM_016938.4(EFEMP2): c.775A> G (p.Ile259Val)	single nucleotide variant	Benign	rs601314	GRCh37	Chromosome 11, 65636053: 65636053
18	EFEMP2	NM_016938.4(EFEMP2): c.775A> G (p.Ile259Val)	single nucleotide variant	Benign	rs601314	GRCh38	Chromosome 11, 65868582: 65868582
19	EFEMP2	NM_016938.4(EFEMP2): c.800G> A (p.Cys267Tyr)	single nucleotide variant	Pathogenic	rs193302866	GRCh37	Chromosome 11, 65636028: 65636028
20	EFEMP2	NM_016938.4(EFEMP2): c.800G> A (p.Cys267Tyr)	single nucleotide variant	Pathogenic	rs193302866	GRCh38	Chromosome 11, 65868557: 65868557
21	EFEMP2	NM_016938.4(EFEMP2): c.679C> T (p.Arg227Cys)	single nucleotide variant	Pathogenic	rs397514683	GRCh37	Chromosome 11, 65637376: 65637376
22	EFEMP2	NM_016938.4(EFEMP2): c.679C> T (p.Arg227Cys)	single nucleotide variant	Pathogenic	rs397514683	GRCh38	Chromosome 11, 65869905: 65869905
23	EFEMP2	NM_016938.4(EFEMP2): c.276C> T (p.His92=)	single nucleotide variant	Benign	rs633800	GRCh37	Chromosome 11, 65638719: 65638719
24	EFEMP2	NM_016938.4(EFEMP2): c.276C> T (p.His92=)	single nucleotide variant	Benign	rs633800	GRCh38	Chromosome 11, 65871248: 65871248
25	EFEMP2	NM_016938.4(EFEMP2): c.368-4G> A	single nucleotide variant	Benign/Likely benign	rs111550973	GRCh38	Chromosome 11, 65870662: 65870662
26	EFEMP2	NM_016938.4(EFEMP2): c.368-4G> A	single nucleotide variant	Benign/Likely benign	rs111550973	GRCh37	Chromosome 11, 65638133: 65638133
27	EFEMP2	NM_016938.4(EFEMP2): c.977G> A (p.Arg326His)	single nucleotide variant	Uncertain significance	rs141868759	GRCh38	Chromosome 11, 65868054: 65868054
28	EFEMP2	NM_016938.4(EFEMP2): c.977G> A (p.Arg326His)	single nucleotide variant	Uncertain significance	rs141868759	GRCh37	Chromosome 11, 65635525: 65635525
29	EFEMP2	NM_016938.4(EFEMP2): c.934A> G (p.Thr312Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148410446	GRCh38	Chromosome 11, 65868335: 65868335
30	EFEMP2	NM_016938.4(EFEMP2): c.934A> G (p.Thr312Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148410446	GRCh37	Chromosome 11, 65635806: 65635806
31	EFEMP2	NM_016938.4(EFEMP2): c.1188C> T (p.Ser396=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2234473	GRCh38	Chromosome 11, 65867062: 65867062
32	EFEMP2	NM_016938.4(EFEMP2): c.1188C> T (p.Ser396=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2234473	GRCh37	Chromosome 11, 65634533: 65634533
33	EFEMP2	NM_016938.4(EFEMP2): c.885C> T (p.Ser295=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142509316	GRCh38	Chromosome 11, 65868384: 65868384
34	EFEMP2	NM_016938.4(EFEMP2): c.885C> T (p.Ser295=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142509316	GRCh37	Chromosome 11, 65635855: 65635855
35	EFEMP2	NM_016938.4(EFEMP2): c.161-10C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2234461	GRCh38	Chromosome 11, 65871373: 65871373
36	EFEMP2	NM_016938.4(EFEMP2): c.161-10C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2234461	GRCh37	Chromosome 11, 65638844: 65638844
37	EFEMP2	NM_016938.4(EFEMP2): c.139C> T (p.Pro47Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144320036	GRCh37	Chromosome 11, 65639462: 65639462
38	EFEMP2	NM_016938.4(EFEMP2): c.139C> T (p.Pro47Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144320036	GRCh38	Chromosome 11, 65871991: 65871991
39	EFEMP2	NM_016938.4(EFEMP2): c.258C> T (p.Ala86=)	single nucleotide variant	Likely benign	rs143873931	GRCh37	Chromosome 11, 65638737: 65638737
40	EFEMP2	NM_016938.4(EFEMP2): c.258C> T (p.Ala86=)	single nucleotide variant	Likely benign	rs143873931	GRCh38	Chromosome 11, 65871266: 65871266
41	EFEMP2	NM_016938.4(EFEMP2): c.277G> A (p.Gly93Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2234462	GRCh37	Chromosome 11, 65638718: 65638718
42	EFEMP2	NM_016938.4(EFEMP2): c.277G> A (p.Gly93Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2234462	GRCh38	Chromosome 11, 65871247: 65871247
43	EFEMP2	NM_016938.4(EFEMP2): c.490+9A> T	single nucleotide variant	Likely benign	rs1465424178	GRCh37	Chromosome 11, 65637998: 65637998
44	EFEMP2	NM_016938.4(EFEMP2): c.490+9A> T	single nucleotide variant	Likely benign	rs1465424178	GRCh38	Chromosome 11, 65870527: 65870527
45	EFEMP2	NM_016938.4(EFEMP2): c.1016A> T (p.Gln339Leu)	single nucleotide variant	Uncertain significance	rs754118526	GRCh38	Chromosome 11, 65868015: 65868015
46	EFEMP2	NM_016938.4(EFEMP2): c.1016A> T (p.Gln339Leu)	single nucleotide variant	Uncertain significance	rs754118526	GRCh37	Chromosome 11, 65635486: 65635486
47	EFEMP2	NM_016938.4(EFEMP2): c.396C> T (p.His132=)	single nucleotide variant	Likely benign	rs545330660	GRCh38	Chromosome 11, 65870630: 65870630
48	EFEMP2	NM_016938.4(EFEMP2): c.396C> T (p.His132=)	single nucleotide variant	Likely benign	rs545330660	GRCh37	Chromosome 11, 65638101: 65638101
49	EFEMP2	NM_016938.4(EFEMP2): c.307G> A (p.Ala103Thr)	single nucleotide variant	Uncertain significance	rs1008465800	GRCh38	Chromosome 11, 65871217: 65871217
50	EFEMP2	NM_016938.4(EFEMP2): c.307G> A (p.Ala103Thr)	single nucleotide variant	Uncertain significance	rs1008465800	GRCh37	Chromosome 11, 65638688: 65638688

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Expression for Cutis Laxa, Autosomal Recessive, Type Ib

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

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Pathways for Cutis Laxa, Autosomal Recessive, Type Ib

Pathways related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Collagen chain trimerization ⁶⁷ Show member pathways Anchoring fibril formation ⁶⁷ Assembly of collagen fibrils and other multimeric structures ⁶⁷ Blood Coagulation Cascade ⁶⁵ Collagen biosynthesis and modifying enzymes ⁶⁷ Collagen formation ⁶⁷ Crosslinking of collagen fibrils ⁶⁷ Intrinsic Prothrombin Activation Pathway ⁶⁵ Protein digestion and absorption ³⁸	11.88	ELN LOX
2	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	11.79	EFEMP2 ELN LOX
3	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	11.43	EFEMP2 ELN
4	Elastic fibre formation ⁶⁷ Show member pathways Molecules associated with elastic fibres ⁶⁷	10.66	EFEMP2 ELN LOX
5	G-protein signaling_Rap2B regulation pathway ²³	10.16	EFEMP2 ELN

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GO Terms for Cutis Laxa, Autosomal Recessive, Type Ib

Cellular components related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.13	EFEMP2 ELN LOX
2	extracellular matrix	GO:0031012	8.62	ELN LOX

Biological processes related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	elastic fiber assembly	GO:0048251	8.62	EFEMP2 LOX

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	8.62	EFEMP2 ELN

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Sources for Cutis Laxa, Autosomal Recessive, Type Ib

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cutis Laxa, Autosomal Recessive, Type Ib (ARCL1B)

Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Ib

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cutis Laxa, Autosomal Recessive, Type Ib

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Ib

Diseases in the Cutis Laxa family:

Diseases related to Cutis Laxa, Autosomal Recessive, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

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

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Ib

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Ib

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

Publications for Cutis Laxa, Autosomal Recessive, Type Ib

Genes for Cutis Laxa, Autosomal Recessive, Type Ib

Genes related to Cutis Laxa, Autosomal Recessive, Type Ib (1 elite genes):

Variations for Cutis Laxa, Autosomal Recessive, Type Ib

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

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

Expression for Cutis Laxa, Autosomal Recessive, Type Ib

Pathways for Cutis Laxa, Autosomal Recessive, Type Ib

Pathways related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

GO Terms for Cutis Laxa, Autosomal Recessive, Type Ib

Cellular components related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

Biological processes related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:

Sources for Cutis Laxa, Autosomal Recessive, Type Ib