ARCL1B
MCID: CTS037
MIFTS: 47

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, Respiratory diseases, Skin diseases
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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 57 71
Cutis Laxa, Autosomal Recessive, Type 1b 28 5 38
Arcl1b 57 11 73
Autosomal Recessive Cutis Laxa Type Ib 11 14
Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency 58
Cutis Laxa Autosomal Recessive Type Ib 73
Cutis Laxa, Autosomal Recessive, 1b 73

Characteristics:


Inheritance:

Cutis Laxa, Autosomal Recessive, Type Ib: Autosomal recessive 57
Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency: Autosomal recessive 58

Prevelance:

Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
relatively mild cutis laxa, associated with severe vascular abnormalities
massive aortic aneurysm can cause airway compression in affected infants


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 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 cutis laxa, autosomal recessive, type 1b, 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 Extracellular matrix organization and Elastic fibre formation. Affiliated tissues include skin, brain and lung, and related phenotypes are depressed nasal bridge and microcephaly

Orphanet: 58 Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.

OMIM®: 57 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) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 cutis laxa 27.6 SLC2A10 RIN2 PYCR1 LTBP4 GORAB FBLN5
2 efemp2-related cutis laxa 11.5
3 cutis laxa, autosomal dominant 2 10.2 FBLN5 EFEMP2
4 retinal drusen 10.1 FBLN5 EFEMP2
5 macs syndrome 10.1 RIN2 FBLN5
6 tricuspid valve prolapse 10.1 SLC2A10 EFEMP2
7 loeys-dietz syndrome 3 10.1 SLC2A10 EFEMP2
8 geleophysic dysplasia 10.1 LTBP4 EFEMP2
9 stiff skin syndrome 10.0 LTBP4 ELN
10 aortic valve insufficiency 10.0 ELN EFEMP2
11 phacogenic glaucoma 10.0 FBLN5 ELN
12 ureteric orifice cancer 10.0 FBLN5 ELN EFEMP2
13 ehlers-danlos syndrome, vascular type 10.0 FBLN5 ELN EFEMP2
14 aortic dissection 9.9 FBLN5 ELN EFEMP2
15 cutis laxa, autosomal dominant 3 9.9 PYCR1 ALDH18A1
16 leukodystrophy, hypomyelinating, 10 9.9 PYCR1 ALDH18A1
17 loeys-dietz syndrome 4 9.9 SLC2A10 ELN
18 pelvic organ prolapse 9.8 FBLN5 ELN
19 orthostatic intolerance 9.8 SLC2A10 ELN EFEMP2
20 patent ductus arteriosus 1 9.8 SLC2A10 ELN EFEMP2
21 contractural arachnodactyly, congenital 9.8 SLC2A10 LTBP4 ELN
22 supravalvular aortic stenosis 9.8 LTBP4 FBLN5 ELN EFEMP2
23 doyne honeycomb retinal dystrophy 9.8 FBLN7 FBLN5 EFEMP2
24 collagen disease 9.8 SLC2A10 ELN
25 cutis laxa, autosomal recessive, type iid 9.7 RIN2 GORAB ATP6V0A2 ALDH18A1
26 ehlers-danlos syndrome 9.7 SLC2A10 FBLN5 ELN EFEMP2
27 scoliosis 9.7 RIN2 LTBP4 FBLN5 ELN
28 williams-beuren syndrome 9.7 SLC2A10 FBLN5 ELN EFEMP2
29 diaphragmatic hernia, congenital 9.7 SLC2A10 LTBP4 ELN EFEMP2
30 immunodeficiency 47 9.7 PYCR1 ATP6V0A2 ALDH18A1
31 bladder diverticulum 9.5 SLC2A10 LTBP4 FBLN5 ELN EFEMP2
32 arterial tortuosity syndrome 9.5 SLC2A10 LTBP4 FBLN5 ELN EFEMP2
33 loeys-dietz syndrome 9.5 SLC2A10 LTBP4 FBLN5 ELN EFEMP2
34 aortic aneurysm 9.5 SLC2A10 LTBP4 FBLN5 ELN EFEMP2
35 aortic aneurysm, familial thoracic 1 9.5 SLC2A10 LTBP4 FBLN5 ELN EFEMP2
36 aortic valve disease 1 9.5 SLC2A10 ELN EFEMP2
37 cutis laxa, autosomal recessive, type ic 9.3 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
38 cutis laxa, autosomal recessive, type iiia 9.3 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
39 cutis laxa, autosomal recessive, type iiib 9.1 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
40 wrinkly skin syndrome 9.1 PYCR1 GORAB FBLN5 ELN EFEMP2 ATP6V0A2
41 inguinal hernia 9.0 SLC2A10 PYCR1 LTBP4 FBLN5 ELN EFEMP2
42 occipital horn syndrome 9.0 RIN2 LTBP4 GORAB FBLN5 ELN EFEMP2
43 autosomal recessive cutis laxa type iii 9.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
44 cutis laxa, autosomal recessive, type ia 9.0 LTBP4 FBLN7 FBLN5 ELN EFEMP2 ATP6V0A2
45 geroderma osteodysplasticum 9.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
46 cutis laxa, autosomal recessive, type iia 9.0 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
47 cutis laxa, autosomal dominant 1 8.8 SLC2A10 PYCR1 LTBP4 FBLN5 ELN EFEMP2
48 cutis laxa, autosomal recessive, type iib 8.7 SLC2A10 RIN2 PYCR1 LTBP4 GORAB FBLN5
49 autosomal recessive cutis laxa type ii classic type 8.3 RIN2 PYCR1 LTBP4 GORAB FBLN7 FBLN5
50 autosomal recessive cutis laxa type i 8.0 SLC2A10 RIN2 PYCR1 LTBP4 GORAB FBLN7

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypotonia
brain hemorrhage

Head And Neck Face:
prominent forehead
micrognathia
prominent premaxilla

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

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
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

Prenatal Manifestations Amniotic Fluid:
oligohydramnios (in some patients)

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

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Ears:
low-set ears
dysplastic ears

Respiratory Lung:
emphysema

Skeletal Feet:
arachnodactyly

Skin Nails Hair Skin:
cutis laxa
velvety skin
normal scarring

Head And Neck Mouth:
high-arched palate

Head And Neck Head:
microcephaly (rare)

Skeletal:
fractures at birth
joint hypermobility, generalized

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

Clinical features from OMIM®:

614437 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 EFEMP2 ELN FBLN5 FBLN7 GBE1 LTBP4
2 respiratory system MP:0005388 9.61 EFEMP2 ELN FBLN5 FBLN7 GBE1 GORAB
3 integument MP:0010771 9.17 ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 FBLN7 GORAB

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

Genetic tests related to Cutis Laxa, Autosomal Recessive, Type Ib:

# Genetic test Affiliating Genes
1 Cutis Laxa, Autosomal Recessive, Type 1b 28 EFEMP2

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Ib

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

MalaCards : Skin, Brain, Lung
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Cutis Laxa, Autosomal Recessive, Type Ib

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

(show all 19)
# 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. 57 5
22943132 2012
2
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. 57 5
20389311 2010
3
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 57 5
19664000 2009
4
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 57 5
17937443 2007
5
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 57 5
16685658 2006
6
Long tortuous aorta in a child with Larsen syndrome. 57 5
15776121 2005
7
Clinicopathologic findings in congenital aneurysms of the great vessels. 57 5
8985490 1996
8
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4. 62 5
23532871 2013
9
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management. 5
34901216 2021
10
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. 5
31589614 2019
11
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 5
27339457 2016
12
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 5
25907466 2015
13
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. 5
22440127 2012
14
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
15
Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa. 62
34845761 2021
16
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. 62
31194159 2019
17
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2. 62
30140196 2018
18
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. 62
28508064 2017
19
EFEMP2-Related Cutis Laxa 62
21563328 2011

Variations for Cutis Laxa, Autosomal Recessive, Type Ib

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

5 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFEMP2 NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) SNV Pathogenic
937224 rs1044449024 GRCh37: 11:65635879-65635879
GRCh38: 11:65868408-65868408
2 EFEMP2 NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) SNV Pathogenic
915377 rs761656636 GRCh37: 11:65638016-65638016
GRCh38: 11:65870545-65870545
3 EFEMP2 NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) SNV Pathogenic
42041 rs397514683 GRCh37: 11:65637376-65637376
GRCh38: 11:65869905-65869905
4 EFEMP2 NC_000011.10:g.(?_65871960)_(65872944_?)del DEL Pathogenic
832127 GRCh37: 11:65639431-65640415
GRCh38:
5 EFEMP2 NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs) DUP Pathogenic
1070589 GRCh37: 11:65635787-65635788
GRCh38: 11:65868316-65868317
6 EFEMP2 NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) SNV Pathogenic
5423 rs119489101 GRCh37: 11:65638826-65638826
GRCh38: 11:65871355-65871355
7 EFEMP2 NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) DUP Pathogenic
5425 rs193302865 GRCh37: 11:65635428-65635429
GRCh38: 11:65867957-65867958
8 EFEMP2 NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) SNV Pathogenic
39016 rs193302866 GRCh37: 11:65636028-65636028
GRCh38: 11:65868557-65868557
9 EFEMP2 NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) SNV Pathogenic
39012 rs193302869 GRCh37: 11:65638120-65638120
GRCh38: 11:65870649-65870649
10 EFEMP2 NM_016938.5(EFEMP2):c.577del (p.Gln193fs) DEL Pathogenic
39013 rs193302870 GRCh37: 11:65637622-65637622
GRCh38: 11:65870151-65870151
11 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) SNV Pathogenic
39009 rs193302868 GRCh37: 11:65634532-65634532
GRCh38: 11:65867061-65867061
12 EFEMP2 NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) SNV Pathogenic
39011 rs193302867 GRCh37: 11:65638121-65638121
GRCh38: 11:65870650-65870650
13 EFEMP2 NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) SNV Pathogenic
948115 rs763944898 GRCh37: 11:65637700-65637700
GRCh38: 11:65870229-65870229
14 EFEMP2 NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) SNV Pathogenic/Likely Pathogenic
39014 rs193302864 GRCh37: 11:65637447-65637447
GRCh38: 11:65869976-65869976
15 EFEMP2 NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) SNV Likely Pathogenic
982404 rs1859949436 GRCh37: 11:65638118-65638118
GRCh38: 11:65870647-65870647
16 EFEMP2 NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) DUP Likely Pathogenic
540023 rs1555042727 GRCh37: 11:65635391-65635392
GRCh38: 11:65867920-65867921
17 EFEMP2 NM_016938.5(EFEMP2):c.109_111+3del DEL Likely Pathogenic
942885 rs1859976995 GRCh37: 11:65639712-65639717
GRCh38: 11:65872241-65872246
18 EFEMP2 NM_016938.5(EFEMP2):c.608-1G>C SNV Likely Pathogenic
575876 rs888015688 GRCh37: 11:65637448-65637448
GRCh38: 11:65869977-65869977
19 GBE1 NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr) SNV Likely Pathogenic
1332750 GRCh37: 3:81627235-81627235
GRCh38: 3:81578084-81578084
20 EFEMP2 NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) SNV Conflicting Interpretations Of Pathogenicity
5424 rs119489102 GRCh37: 11:65635993-65635993
GRCh38: 11:65868522-65868522
21 EFEMP2 NM_016938.5(EFEMP2):c.-113C>T SNV Conflicting Interpretations Of Pathogenicity
439639 rs188624478 GRCh37: 11:65640259-65640259
GRCh38: 11:65872788-65872788
22 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) SNV Conflicting Interpretations Of Pathogenicity
305377 rs2234473 GRCh37: 11:65634533-65634533
GRCh38: 11:65867062-65867062
23 EFEMP2 NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) SNV Conflicting Interpretations Of Pathogenicity
703835 rs746343857 GRCh37: 11:65638632-65638632
GRCh38: 11:65871161-65871161
24 EFEMP2 NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) SNV Conflicting Interpretations Of Pathogenicity
305386 rs140946753 GRCh37: 11:65639727-65639727
GRCh38: 11:65872256-65872256
25 EFEMP2 NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) SNV Conflicting Interpretations Of Pathogenicity
390442 rs144320036 GRCh37: 11:65639462-65639462
GRCh38: 11:65871991-65871991
26 EFEMP2 NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) SNV Conflicting Interpretations Of Pathogenicity
305379 rs148410446 GRCh37: 11:65635806-65635806
GRCh38: 11:65868335-65868335
27 EFEMP2 NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) SNV Conflicting Interpretations Of Pathogenicity
880526 rs762409753 GRCh37: 11:65638674-65638674
GRCh38: 11:65871203-65871203
28 EFEMP2 NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) SNV Conflicting Interpretations Of Pathogenicity
305378 rs141868759 GRCh37: 11:65635525-65635525
GRCh38: 11:65868054-65868054
29 EFEMP2 NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) SNV Conflicting Interpretations Of Pathogenicity
305380 rs142509316 GRCh37: 11:65635855-65635855
GRCh38: 11:65868384-65868384
30 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=) SNV Uncertain Significance
472811 rs148302546 GRCh37: 11:65634509-65634509
GRCh38: 11:65867038-65867038
31 EFEMP2 NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) SNV Uncertain Significance
879338 rs199606204 GRCh37: 11:65637416-65637416
GRCh38: 11:65869945-65869945
32 EFEMP2 NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) SNV Uncertain Significance
1330731 GRCh37: 11:65639444-65639444
GRCh38: 11:65871973-65871973
33 EFEMP2 NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) SNV Uncertain Significance
1381687 GRCh37: 11:65635776-65635776
GRCh38: 11:65868305-65868305
34 EFEMP2 NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) SNV Uncertain Significance
1472847 GRCh37: 11:65635492-65635492
GRCh38: 11:65868021-65868021
35 EFEMP2 NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) SNV Uncertain Significance
1326054 GRCh37: 11:65637634-65637634
GRCh38: 11:65870163-65870163
36 EFEMP2 NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) SNV Uncertain Significance
838688 rs546162289 GRCh37: 11:65637427-65637427
GRCh38: 11:65869956-65869956
37 EFEMP2 NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) SNV Uncertain Significance
841987 rs762712612 GRCh37: 11:65637694-65637694
GRCh38: 11:65870223-65870223
38 EFEMP2 NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) SNV Uncertain Significance
845850 rs756905509 GRCh37: 11:65635992-65635992
GRCh38: 11:65868521-65868521
39 EFEMP2 NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) SNV Uncertain Significance
853111 rs141721562 GRCh37: 11:65638709-65638709
GRCh38: 11:65871238-65871238
40 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) SNV Uncertain Significance
540027 rs543567156 GRCh37: 11:65634538-65634538
GRCh38: 11:65867067-65867067
41 EFEMP2 NM_016938.5(EFEMP2):c.728-3C>T SNV Uncertain Significance
507578 rs377139656 GRCh37: 11:65636103-65636103
GRCh38: 11:65868632-65868632
42 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu) SNV Uncertain Significance
566563 rs146879673 GRCh37: 11:65634487-65634487
GRCh38: 11:65867016-65867016
43 EFEMP2 NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) SNV Uncertain Significance
582876 rs376350227 GRCh37: 11:65638647-65638647
GRCh38: 11:65871176-65871176
44 EFEMP2 NM_016938.5(EFEMP2):c.579G>C (p.Gln193His) SNV Uncertain Significance
582999 rs1565273832 GRCh37: 11:65637620-65637620
GRCh38: 11:65870149-65870149
45 EFEMP2 NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) SNV Uncertain Significance
648809 rs370848091 GRCh37: 11:65638715-65638715
GRCh38: 11:65871244-65871244
46 EFEMP2 NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) SNV Uncertain Significance
650013 rs149525720 GRCh37: 11:65638736-65638736
GRCh38: 11:65871265-65871265
47 EFEMP2 NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) SNV Uncertain Significance
655732 rs113167523 GRCh37: 11:65635794-65635794
GRCh38: 11:65868323-65868323
48 EFEMP2 NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) SNV Uncertain Significance
664118 rs377646143 GRCh37: 11:65635437-65635437
GRCh38: 11:65867966-65867966
49 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp) SNV Uncertain Significance
949746 rs1056545955 GRCh37: 11:65634442-65634442
GRCh38: 11:65866971-65866971
50 EFEMP2 NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) SNV Uncertain Significance
968840 rs369601362 GRCh37: 11:65638064-65638064
GRCh38: 11:65870593-65870593

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

73
# 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
4 EFEMP2 p.Glu126Lys VAR_084029
5 EFEMP2 p.Glu126Val VAR_084030
6 EFEMP2 p.Asp203Ala VAR_084031
7 EFEMP2 p.Arg227Cys VAR_084032
8 EFEMP2 p.Ala397Thr VAR_084033

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 LTBP4 FBLN5 ELN EFEMP2
2
Show member pathways
10.83 LTBP4 FBLN5 ELN EFEMP2
3
Show member pathways
10.62 PYCR1 ALDH18A1

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 collagen-containing extracellular matrix GO:0062023 9.86 LTBP4 FBLN5 ELN EFEMP2
2 extracellular matrix GO:0031012 9.65 LTBP4 FBLN7 FBLN5 ELN EFEMP2
3 microfibril GO:0001527 9.46 LTBP4 EFEMP2
4 elastic fiber GO:0071953 9.1 FBLN5 ELN EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 L-proline biosynthetic process GO:0055129 9.46 PYCR1 ALDH18A1
2 amino acid biosynthetic process GO:0008652 9.26 PYCR1 ALDH18A1
3 proline biosynthetic process GO:0006561 9.26 PYCR1 ALDH18A1
4 elastic fiber assembly GO:0048251 9.02 LTBP4 FBLN5 EFEMP2

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 9.43 LTBP4 ELN EFEMP2
2 extracellular matrix constituent conferring elasticity GO:0030023 8.92 FBLN5 ELN

Sources for Cutis Laxa, Autosomal Recessive, Type Ib

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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