ARCL1B
MCID: CTS037
MIFTS: 42

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

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 56 13 71
Arcl1b 56 12 73
Autosomal Recessive Cutis Laxa Type Ib 12 15
Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency 58
Cutis Laxa, Autosomal Recessive, Type 1b 39
Cutis Laxa Autosomal Recessive Type Ib 73
Cutis Laxa, Autosomal Recessive, 1b 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
cutis laxa, autosomal recessive, type ib:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cutis Laxa, Autosomal Recessive, Type Ib

UniProtKB/Swiss-Prot : 73 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 cutis laxa and efemp2-related 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 Degradation of the extracellular matrix and Elastic fibre formation. 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 : 56 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)

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 Autosomal Recessive Cutis Laxa Type 2

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

(showing 21, show less)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 27.7 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
2 efemp2-related cutis laxa 11.6
3 aortic aneurysm 9.9 FBLN5 EFEMP2
4 ureteric orifice cancer 9.9 FBLN5 EFEMP2
5 tricuspid valve prolapse 9.8 FBLN5 EFEMP2
6 doyne honeycomb retinal dystrophy 9.8 FBLN5 EFEMP2
7 supravalvular aortic stenosis 9.7 FBLN5 EFEMP2
8 aortic aneurysm, familial thoracic 1 9.6 LTBP4 FBLN5 EFEMP2
9 loeys-dietz syndrome 9.5 LTBP4 FBLN5 EFEMP2
10 cutis laxa, autosomal dominant 1 9.5 FBLN5 EFEMP2 ALDH18A1
11 cutis laxa, autosomal recessive, type iiia 9.3 LTBP4 GORAB ALDH18A1
12 congenital disorder of glycosylation, type in 9.2 GORAB ATP6V0A2
13 cutis laxa, autosomal recessive, type iiib 9.0 LTBP4 GORAB EFEMP2 ALDH18A1
14 arterial tortuosity syndrome 9.0 LTBP4 GORAB FBLN5 EFEMP2
15 autosomal recessive cutis laxa type i 8.2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
16 autosomal recessive cutis laxa type iii 8.2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
17 autosomal recessive cutis laxa type ii classic type 8.2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
18 cutis laxa, autosomal recessive, type ic 8.2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
19 cutis laxa, autosomal recessive, type iib 8.2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
20 cutis laxa, autosomal recessive, type iia 8.2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
21 cutis laxa, autosomal recessive, type ia 8.2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1

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



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:

31 (showing 30, show less)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 occasional (7.5%) HP:0005280
2 microcephaly 31 occasional (7.5%) HP:0000252
3 oligohydramnios 31 occasional (7.5%) HP:0001562
4 convex nasal ridge 31 occasional (7.5%) HP:0000444
5 overgrowth 31 occasional (7.5%) HP:0001548
6 bradycardia 31 occasional (7.5%) HP:0001662
7 hypertelorism 31 HP:0000316
8 low-set ears 31 HP:0000369
9 pectus excavatum 31 HP:0000767
10 high palate 31 HP:0000218
11 inguinal hernia 31 HP:0000023
12 micrognathia 31 HP:0000347
13 downslanted palpebral fissures 31 HP:0000494
14 prominent forehead 31 HP:0011220
15 emphysema 31 HP:0002097
16 generalized hypotonia 31 HP:0001290
17 abnormality of the pinna 31 HP:0000377
18 proptosis 31 HP:0000520
19 arachnodactyly 31 HP:0001166
20 joint hypermobility 31 HP:0001382
21 bulbous nose 31 HP:0000414
22 congenital diaphragmatic hernia 31 HP:0000776
23 aortic aneurysm 31 HP:0004942
24 narrow palpebral fissure 31 HP:0045025
25 cutis laxa 31 HP:0000973
26 soft skin 31 HP:0000977
27 pulmonary insufficiency 31 HP:0010444
28 pulmonary artery aneurysm 31 HP:0004937
29 prominence of the premaxilla 31 HP:0010759
30 generalized arterial tortuosity 31 HP:0004955

Symptoms via clinical synopsis from OMIM:

56
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:
micrognathia
prominent forehead
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

MGI Mouse Phenotypes related to Cutis Laxa, Autosomal Recessive, Type Ib:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 GORAB LTBP4
2 respiratory system MP:0005388 8.92 EFEMP2 FBLN5 GORAB LTBP4

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

Search Clinical Trials , NIH Clinical Center 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:

40
Skin, Eye, Brain

Publications for Cutis Laxa, Autosomal Recessive, Type Ib

Articles related to Cutis Laxa, Autosomal Recessive, Type Ib:

(showing 12, show less)
# Title Authors PMID Year
1
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. 56 6
22943132 2012
2
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 6 56
20389311 2010
3
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 56 6
19664000 2009
4
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 56 6
17937443 2007
5
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 56 6
16685658 2006
6
Long tortuous aorta in a child with Larsen syndrome. 56 6
15776121 2005
7
Clinicopathologic findings in congenital aneurysms of the great vessels. 56 6
8985490 1996
8
EFEMP2-Related Cutis Laxa 6 61
21563328 2011
9
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. 61
31194159 2019
10
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2. 61
30140196 2018
11
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. 61
28508064 2017
12
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. 61
23532871 2013

Variations for Cutis Laxa, Autosomal Recessive, Type Ib

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

6 (showing 83, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EFEMP2 NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)SNV Pathogenic 5423 rs119489101 11:65638826-65638826 11:65871355-65871355
2 EFEMP2 NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)SNV Pathogenic 5424 rs119489102 11:65635993-65635993 11:65868522-65868522
3 EFEMP2 NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)duplication Pathogenic 5425 rs193302865 11:65635429-65635432 11:65867958-65867961
4 EFEMP2 NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)SNV Pathogenic 39014 rs193302864 11:65637447-65637447 11:65869976-65869976
5 EFEMP2 NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)SNV Pathogenic 39009 rs193302868 11:65634532-65634532 11:65867061-65867061
6 EFEMP2 NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)SNV Pathogenic 39011 rs193302867 11:65638121-65638121 11:65870650-65870650
7 EFEMP2 NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)SNV Pathogenic 39012 rs193302869 11:65638120-65638120 11:65870649-65870649
8 EFEMP2 NM_016938.5(EFEMP2):c.577del (p.Gln193fs)deletion Pathogenic 39013 rs193302870 11:65637622-65637622 11:65870151-65870151
9 EFEMP2 NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)SNV Pathogenic 39016 rs193302866 11:65636028-65636028 11:65868557-65868557
10 EFEMP2 NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)SNV Pathogenic 42041 rs397514683 11:65637376-65637376 11:65869905-65869905
11 EFEMP2 NM_016938.5(EFEMP2):c.608-1G>CSNV Likely pathogenic 575876 11:65637448-65637448 11:65869977-65869977
12 EFEMP2 NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs)duplication Likely pathogenic 540023 rs1555042727 11:65635392-65635392 11:65867921-65867921
13 EFEMP2 NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=)SNV Conflicting interpretations of pathogenicity 540026 rs765684268 11:65634514-65634514 11:65867043-65867043
14 EFEMP2 NM_016938.5(EFEMP2):c.728-3C>TSNV Conflicting interpretations of pathogenicity 507578 rs377139656 11:65636103-65636103 11:65868632-65868632
15 EFEMP2 NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)SNV Conflicting interpretations of pathogenicity 305379 rs148410446 11:65635806-65635806 11:65868335-65868335
16 EFEMP2 NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)SNV Conflicting interpretations of pathogenicity 305377 rs2234473 11:65634533-65634533 11:65867062-65867062
17 EFEMP2 NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)SNV Conflicting interpretations of pathogenicity 305380 rs142509316 11:65635855-65635855 11:65868384-65868384
18 EFEMP2 NM_016938.5(EFEMP2):c.161-10C>TSNV Conflicting interpretations of pathogenicity 305384 rs2234461 11:65638844-65638844 11:65871373-65871373
19 EFEMP2 NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)SNV Conflicting interpretations of pathogenicity 390442 rs144320036 11:65639462-65639462 11:65871991-65871991
20 EFEMP2 NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)SNV Conflicting interpretations of pathogenicity 424982 rs2234462 11:65638718-65638718 11:65871247-65871247
21 EFEMP2 NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu)SNV Uncertain significance 472807 rs754118526 11:65635486-65635486 11:65868015-65868015
22 EFEMP2 NM_016938.5(EFEMP2):c.307G>A (p.Ala103Thr)SNV Uncertain significance 472820 rs1008465800 11:65638688-65638688 11:65871217-65871217
23 EFEMP2 NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu)SNV Uncertain significance 472819 rs779247685 11:65638705-65638705 11:65871234-65871234
24 EFEMP2 NM_016938.5(EFEMP2):c.279C>T (p.Gly93=)SNV Uncertain significance 472817 rs769750626 11:65638716-65638716 11:65871245-65871245
25 EFEMP2 NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn)SNV Uncertain significance 472827 rs145037272 11:65637703-65637703 11:65870232-65870232
26 EFEMP2 NM_016938.5(EFEMP2):c.422A>T (p.His141Leu)SNV Uncertain significance 472825 rs148315164 11:65638075-65638075 11:65870604-65870604
27 EFEMP2 NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn)SNV Uncertain significance 472821 rs370759216 11:65638649-65638649 11:65871178-65871178
28 EFEMP2 NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr)SNV Uncertain significance 472816 rs148604051 11:65638742-65638742 11:65871271-65871271
29 EFEMP2 NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=)SNV Uncertain significance 472811 rs148302546 11:65634509-65634509 11:65867038-65867038
30 EFEMP2 NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser)SNV Uncertain significance 472810 rs1294797610 11:65635391-65635391 11:65867920-65867920
31 EFEMP2 NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)SNV Uncertain significance 472828 rs141310608 11:65637693-65637693 11:65870222-65870222
32 EFEMP2 NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)SNV Uncertain significance 305378 rs141868759 11:65635525-65635525 11:65868054-65868054
33 EFEMP2 NM_016938.5(EFEMP2):c.595C>T (p.Arg199Cys)SNV Uncertain significance 540022 rs766531680 11:65637604-65637604 11:65870133-65870133
34 EFEMP2 NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His)SNV Uncertain significance 540025 rs373485109 11:65635397-65635397 11:65867926-65867926
35 EFEMP2 NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr)SNV Uncertain significance 472813 rs1307880504 11:65639450-65639450 11:65871979-65871979
36 EFEMP2 NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)SNV Uncertain significance 472824 rs1306393544 11:65638088-65638088 11:65870617-65870617
37 EFEMP2 NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser)SNV Uncertain significance 583249 11:65638828-65638828 11:65871357-65871357
38 EFEMP2 NM_016938.5(EFEMP2):c.1174del (p.Ile392fs)deletion Uncertain significance 650648 11:65634547-65634547 11:65867078-65867078
39 EFEMP2 NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)SNV Uncertain significance 664118 11:65635437-65635437 11:65867966-65867966
40 EFEMP2 NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu)SNV Uncertain significance 655732 11:65635794-65635794 11:65868323-65868323
41 EFEMP2 NM_016938.5(EFEMP2):c.554G>A (p.Arg185His)SNV Uncertain significance 646814 11:65637645-65637645 11:65870174-65870174
42 EFEMP2 NM_016938.5(EFEMP2):c.349G>A (p.Asp117Asn)SNV Uncertain significance 639183 11:65638646-65638646 11:65871175-65871175
43 EFEMP2 NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys)SNV Uncertain significance 648809 11:65638715-65638715 11:65871244-65871244
44 EFEMP2 NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile)SNV Uncertain significance 650013 11:65638736-65638736 11:65871265-65871265
45 EFEMP2 NM_016938.5(EFEMP2):c.236T>G (p.Leu79Trp)SNV Uncertain significance 650033 11:65638759-65638759 11:65871288-65871288
46 covers 29 genes, none of which curated to show dosage sensitivity NC_000011.9:g.(?_65633902)_(66115026_?)dupduplication Uncertain significance 644273 11:65633902-66115026 11:65866431-66347555
47 EFEMP2 NM_016938.5(EFEMP2):c.338A>G (p.Tyr113Cys)SNV Uncertain significance 540024 rs1394549414 11:65638657-65638657 11:65871186-65871186
48 EFEMP2 NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met)SNV Uncertain significance 472809 rs921412303 11:65639716-65639716 11:65872245-65872245
49 EFEMP2 NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile)SNV Uncertain significance 540027 rs543567156 11:65634538-65634538 11:65867067-65867067
50 EFEMP2 NM_016938.5(EFEMP2):c.1234G>C (p.Val412Leu)SNV Uncertain significance 581197 11:65634487-65634487 11:65867016-65867016
51 EFEMP2 NM_016938.5(EFEMP2):c.579G>C (p.Gln193His)SNV Uncertain significance 582999 rs1565273832 11:65637620-65637620 11:65870149-65870149
52 EFEMP2 NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu)SNV Uncertain significance 582876 11:65638647-65638647 11:65871176-65871176
53 EFEMP2 NM_016938.5(EFEMP2):c.1283C>T (p.Ala428Val)SNV Uncertain significance 581860 rs1565272014 11:65634438-65634438 11:65866967-65866967
54 EFEMP2 NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu)SNV Uncertain significance 566563 11:65634487-65634487 11:65867016-65867016
55 EFEMP2 NM_016938.5(EFEMP2):c.1211C>T (p.Pro404Leu)SNV Uncertain significance 568624 11:65634510-65634510 11:65867039-65867039
56 EFEMP2 NM_016938.5(EFEMP2):c.862G>C (p.Glu288Gln)SNV Uncertain significance 540028 rs752273286 11:65635878-65635878 11:65868407-65868407
57 EFEMP2 NM_016938.5(EFEMP2):c.498C>T (p.Asp166=)SNV Likely benign 540030 rs757273990 11:65637701-65637701 11:65870230-65870230
58 EFEMP2 NM_016938.5(EFEMP2):c.186T>C (p.Pro62=)SNV Likely benign 540035 rs745699648 11:65638809-65638809 11:65871338-65871338
59 EFEMP2 NM_016938.5(EFEMP2):c.180C>A (p.Thr60=)SNV Likely benign 472815 rs780024554 11:65638815-65638815 11:65871344-65871344
60 EFEMP2 NM_016938.5(EFEMP2):c.810A>G (p.Pro270=)SNV Likely benign 472833 rs150546623 11:65636018-65636018 11:65868547-65868547
61 EFEMP2 NM_016938.5(EFEMP2):c.474C>T (p.Ile158=)SNV Likely benign 472826 rs779614307 11:65638023-65638023 11:65870552-65870552
62 EFEMP2 NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)SNV Likely benign 472818 rs144817331 11:65639799-65639799 11:65872328-65872328
63 EFEMP2 NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)SNV Likely benign 472808 rs369627072 11:65635407-65635407 11:65867936-65867936
64 EFEMP2 NM_016938.5(EFEMP2):c.783G>A (p.Glu261=)SNV Likely benign 472832 rs779131358 11:65636045-65636045 11:65868574-65868574
65 EFEMP2 NM_016938.5(EFEMP2):c.852T>A (p.Ile284=)SNV Likely benign 540034 rs200285623 11:65635888-65635888 11:65868417-65868417
66 EFEMP2 NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=)SNV Likely benign 540033 rs112355691 11:65635401-65635401 11:65867930-65867930
67 EFEMP2 NM_016938.5(EFEMP2):c.34C>T (p.Leu12=)SNV Likely benign 540029 rs990066080 11:65639792-65639792 11:65872321-65872321
68 EFEMP2 NM_016938.5(EFEMP2):c.912T>C (p.His304=)SNV Likely benign 540031 rs1555042846 11:65635828-65635828 11:65868357-65868357
69 EFEMP2 NM_016938.5(EFEMP2):c.741T>C (p.Cys247=)SNV Likely benign 540032 rs1200560839 11:65636087-65636087 11:65868616-65868616
70 EFEMP2 NM_016938.5(EFEMP2):c.258C>T (p.Ala86=)SNV Likely benign 391304 rs143873931 11:65638737-65638737 11:65871266-65871266
71 EFEMP2 NM_016938.5(EFEMP2):c.348C>T (p.Asp116=)SNV Likely benign 472822 rs376350227 11:65638647-65638647 11:65871176-65871176
72 EFEMP2 NM_016938.5(EFEMP2):c.160+8T>CSNV Likely benign 472814 rs1441745834 11:65639433-65639433 11:65871962-65871962
73 EFEMP2 NM_016938.5(EFEMP2):c.759C>G (p.Leu253=)SNV Likely benign 472831 rs1555042933 11:65636069-65636069 11:65868598-65868598
74 EFEMP2 NM_016938.5(EFEMP2):c.570G>A (p.Pro190=)SNV Likely benign 472829 rs145853251 11:65637629-65637629 11:65870158-65870158
75 EFEMP2 NM_016938.5(EFEMP2):c.396C>T (p.His132=)SNV Likely benign 472823 rs545330660 11:65638101-65638101 11:65870630-65870630
76 EFEMP2 NM_016938.5(EFEMP2):c.490+9A>TSNV Likely benign 439640 rs1465424178 11:65637998-65637998 11:65870527-65870527
77 EFEMP2 NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)SNV Benign/Likely benign 472812 rs2234457 11:65639463-65639463 11:65871992-65871992
78 EFEMP2 NM_016938.5(EFEMP2):c.368-4G>ASNV Benign/Likely benign 226628 rs111550973 11:65638133-65638133 11:65870662-65870662
79 EFEMP2 NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)SNV Benign/Likely benign 472830 rs144780990 11:65636090-65636090 11:65868619-65868619
80 EFEMP2 NM_016938.5(EFEMP2):c.490+23G>CSNV Benign 522224 rs630394 11:65637984-65637984 11:65870513-65870513
81 EFEMP2 NM_016938.5(EFEMP2):c.276C>T (p.His92=)SNV Benign 163326 rs633800 11:65638719-65638719 11:65871248-65871248
82 EFEMP2 NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)SNV Benign 39015 rs601314 11:65636053-65636053 11:65868582-65868582
83 EFEMP2 NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)SNV Benign 472834 rs61740381 11:65635512-65635512 11:65868041-65868041

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

73 (showing 3, show less)
# 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

Expression for Cutis Laxa, Autosomal Recessive, Type Ib

Search GEO for disease gene expression data 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:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 LTBP4 FBLN5 EFEMP2
2
Show member pathways
10.66 LTBP4 FBLN5 EFEMP2

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:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.8 LTBP4 FBLN5 EFEMP2

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell growth GO:0001558 8.96 LTBP4 FBLN5
2 elastic fiber assembly GO:0048251 8.62 FBLN5 EFEMP2

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

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.16 LTBP4 FBLN5
2 calcium ion binding GO:0005509 9.13 LTBP4 FBLN5 EFEMP2
3 extracellular matrix structural constituent GO:0005201 8.62 LTBP4 EFEMP2

Sources for Cutis Laxa, Autosomal Recessive, Type Ib

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17 EFO
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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