ARCL1A
MCID: CTS030
MIFTS: 45

Cutis Laxa, Autosomal Recessive, Type Ia (ARCL1A)

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 Ia

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

Name: Cutis Laxa, Autosomal Recessive, Type Ia 57 38
Cutis Laxa, Autosomal Recessive 57 28 12
Arcl1a 57 11 73
Cutis Laxa, Autosomal Recessive, Type 1a 28 5
Autosomal Recessive Cutis Laxa Type Ia 11 14
Cutis Laxa, Autosomal Recessive, Type I 71
Cutis Laxa Autosomal Recessive Type Ia 73
Cutis Laxa Autosomal Recessive Type I 73
Cutis Laxa, Autosomal Recessive, 1a 73
Cl Type I 73
Arcl1 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity


Classifications:



Summaries for Cutis Laxa, Autosomal Recessive, Type Ia

OMIM®: 57 Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002). The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by Morava et al., 2009). Classification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by Davidson and Giro, 2002). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see 123700. (219100) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Ia, also known as cutis laxa, autosomal recessive, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal recessive, type iiib. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ia is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. Affiliated tissues include skin, lung and bone, and related phenotypes are recurrent respiratory infections and emphysema

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. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon.

Disease Ontology: 11 An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Ia

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 31.8 LTBP4 ATP6V0A2 ALDH18A1
2 cutis laxa, autosomal recessive, type iiib 31.6 LTBP4 EFEMP2 ATP6V0A2 ALDH18A1
3 cutis laxa, autosomal recessive, type iid 31.0 ATP6V0A2 ALDH18A1
4 cutis laxa, autosomal recessive, type iia 30.2 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
5 cutis laxa, autosomal recessive, type ic 30.2 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
6 cutis laxa, autosomal recessive, type iib 30.2 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
7 cutis laxa, autosomal dominant 1 29.8 LTBP4 FBLN5 ELN EFEMP2 ATP6V0A2 ALDH18A1
8 autosomal recessive cutis laxa type i 29.6 LTBP4 FBLN7 FBLN5 ELN EFEMP2 ATP6V0A2
9 cutis laxa, autosomal recessive, type ib 29.5 LTBP4 FBLN7 FBLN5 ELN EFEMP2 ATP6V0A2
10 wrinkly skin syndrome 28.9 FBLN5 ELN EFEMP2 ATP6V0A2 ALDH18A1
11 cutis laxa 28.5 LTBP4 FBLN5 ELN EFEMP2 EFEMP1 ATP6V0A2
12 atp6v0a2-related cutis laxa 11.3
13 efemp2-related cutis laxa 11.3
14 cutis laxa, autosomal dominant 3 11.0
15 cutis laxa, autosomal recessive, type iic 10.9
16 cutis laxa, autosomal recessive, type iie 10.9
17 cutis laxa, autosomal dominant 2 10.1 FBLN5 EFEMP2
18 basal laminar drusen 10.0 FBLN5 EFEMP1
19 geleophysic dysplasia 10.0 LTBP4 EFEMP2
20 cardiomyopathy, dilated, 1l 10.0 FBLN5 EFEMP1
21 phacogenic glaucoma 10.0 FBLN5 ELN
22 stiff skin syndrome 10.0 LTBP4 ELN
23 aortic valve insufficiency 10.0 ELN EFEMP2
24 pelvic organ prolapse 10.0 FBLN5 ELN
25 contractural arachnodactyly, congenital 10.0 LTBP4 ELN
26 pneumothorax 10.0 FBLN5 ELN
27 orthostatic intolerance 9.9 ELN EFEMP2
28 ureteric orifice cancer 9.9 FBLN5 ELN EFEMP2
29 ehlers-danlos syndrome, vascular type 9.9 FBLN5 ELN EFEMP2
30 ehlers-danlos syndrome 9.9 FBLN5 ELN EFEMP2
31 retinal drusen 9.9 FBLN5 EFEMP2 EFEMP1
32 patent ductus arteriosus 1 9.9 ELN EFEMP2
33 aortic dissection 9.9 FBLN5 ELN EFEMP2
34 diaphragmatic hernia, congenital 9.8 LTBP4 ELN EFEMP2
35 aortic disease 9.8 ELN EFEMP2
36 williams-beuren syndrome 9.8 FBLN5 ELN EFEMP2
37 arterial tortuosity syndrome 9.7 LTBP4 FBLN5 ELN EFEMP2
38 supravalvular aortic stenosis 9.7 LTBP4 FBLN5 ELN EFEMP2
39 loeys-dietz syndrome 9.7 LTBP4 FBLN5 ELN EFEMP2
40 macular degeneration, age-related, 1 9.7 FBLN5 ELN EFEMP1
41 aortic aneurysm 9.7 LTBP4 FBLN5 ELN EFEMP2
42 aortic aneurysm, familial thoracic 1 9.7 LTBP4 FBLN5 ELN EFEMP2
43 doyne honeycomb retinal dystrophy 9.7 FBLN7 FBLN5 EFEMP2 EFEMP1
44 glaucoma, primary open angle 9.6 ELN EFEMP1
45 scoliosis 9.6 LTBP4 FBLN5 ELN EFEMP1
46 bladder diverticulum 9.4 LTBP4 FBLN5 ELN EFEMP2 EFEMP1
47 autosomal recessive cutis laxa type iii 9.2 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
48 geroderma osteodysplasticum 9.2 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
49 inguinal hernia 9.0 LTBP4 FBLN5 ELN EFEMP2 EFEMP1 ATP6V0A2
50 occipital horn syndrome 9.0 LTBP4 FBLN5 ELN EFEMP2 ATP6V0A2 ALDH18A1

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



Diseases related to Cutis Laxa, Autosomal Recessive, Type Ia

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

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

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 30 Very rare (1%) HP:0002205
2 emphysema 30 Very rare (1%) HP:0002097
3 bladder diverticulum 30 Very rare (1%) HP:0000015
4 redundant skin 30 Very rare (1%) HP:0001582
5 supravalvular aortic stenosis 30 Very rare (1%) HP:0004381
6 abnormal cutaneous elastic fiber morphology 30 Very rare (1%) HP:0025082
7 inguinal hernia 30 HP:0000023
8 umbilical hernia 30 HP:0001537
9 microcephaly 30 HP:0000252
10 pectus excavatum 30 HP:0000767
11 joint laxity 30 HP:0001388
12 arachnodactyly 30 HP:0001166
13 abnormality of the face 30 HP:0000271
14 congenital diaphragmatic hernia 30 HP:0000776
15 oligohydramnios 30 HP:0001562
16 overgrowth 30 HP:0001548
17 ascending tubular aorta aneurysm 30 HP:0004970
18 vascular tortuosity 30 HP:0004948

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary External Genitalia Male:
inguinal hernia

Respiratory:
recurrent respiratory infections

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Respiratory Lung:
emphysema

Cardiovascular Heart:
supravalvular aortic stenosis

Skin Nails Hair Skin:
cutis laxa
loose redundant skin
excessive skin folds
no skin hyperelasticity
normal wound healing

Genitourinary Bladder:
bladder diverticula

Chest Diaphragm:
diaphragmatic hernia

Head And Neck Face:
sagging cheeks

Genitourinary External Genitalia Female:
inguinal hernia

Head And Neck Head:
microcephaly

Skeletal:
joint laxity
congenital fractures

Skeletal Hands:
arachnodactyly

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Cardiovascular Vascular:
vascular tortuosity
ascending aortic aneurysm

Abdomen External Features:
umbilical hernias

Growth Height:
fetal overgrowth

Skin Nails Hair Skin Histology:
increased vascularization, reduced collagen bundle size
underdeveloped elastic fibers in dermis

Clinical features from OMIM®:

219100 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.65 EFEMP1 EFEMP2 ELN FBLN5 LTBP4
2 cardiovascular system MP:0005385 9.63 EFEMP1 EFEMP2 ELN FBLN5 FBLN7 LTBP4
3 respiratory system MP:0005388 9.35 EFEMP2 ELN FBLN5 FBLN7 LTBP4
4 integument MP:0010771 9.17 ALDH18A1 ATP6V0A2 EFEMP1 EFEMP2 FBLN5 FBLN7

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

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

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Ia

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

# Genetic test Affiliating Genes
1 Cutis Laxa, Autosomal Recessive, Type 1a 28 FBLN5
2 Cutis Laxa, Autosomal Recessive 28

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Ia

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

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

Publications for Cutis Laxa, Autosomal Recessive, Type Ia

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

(show all 33)
# Title Authors PMID Year
1
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 57 5
22829427 2013
2
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 57 5
17035250 2006
3
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 57 5
12189163 2002
4
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. 57 5
3232707 1988
5
Autosomal recessive cutis laxa syndrome revisited. 57
19401719 2009
6
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 5
18185537 2008
7
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 57
16652333 2006
8
A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa. 57
12707960 2003
9
Congenital cutis laxa and lysyl oxidase deficiency. 57
9111998 1997
10
Cutis laxa with ultrastructural abnormalities of elastic fiber. 57
2754071 1989
11
Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide. 57
3360789 1988
12
Variable clinical presentation of cutis laxa. 57
4064367 1985
13
Characterization and partial purification of a neutral protease from the serum of a patient with autosomal recessive pulmonary emphysema and cutis laxa. 57
3886813 1985
14
Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings. 57
6747755 1984
15
Two forms of cutis laxa presenting in the newborn period. 57
102106 1978
16
A syndrome of generalized elastic fiber deficiency with leprechaunoid features: a distinct genetic disease with an autosomal recessive mode of inheritance. 57
949858 1976
17
The dominant and recessive forms of cutis laxa. 57
5046633 1972
18
Plastic surgery in cutis laxa. 57
5469601 1970
19
Cutis laxa. 57
5773419 1969
20
Congenital cutis laxa with advanced cardiopulmonary disease. 57
5658618 1968
21
Cutis laxa associated with pulmonary artery stenosis. 57
5647293 1968
22
Cutis laxa. A manifestation of generalized elastolysis. 57
5835325 1965
23
Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area. 57
13910947 1962
24
Cutis laxa. 57
13748595 1961
25
Congenital emphysema and cutis laxa. 57
13237122 1954
26
Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature. 62
35445908 2022
27
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA. 62
32143220 2020
28
Synthesis and crystal structures of (2E)-1,4-bis-(4-chloro-phen-yl)but-2-ene-1,4-dione and (2E)-1,4-bis-(4-bromo-phen-yl)but-2-ene-1,4-dione. 62
29765722 2018
29
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? 62
27730053 2016
30
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. 62
24962763 2014
31
Conformational polymorphs of 1,1,2,2-tetrachloroethane: pressure vs. temperature. 62
21617804 2011
32
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 62
21204221 2011
33
Genetic and phenotypic relationships among endocrine and traditional fertility traits and production traits in Holstein-Friesian dairy cows. 62
12018442 2002

Variations for Cutis Laxa, Autosomal Recessive, Type Ia

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

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBLN5 NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) SNV Pathogenic
995864 rs746506432 GRCh37: 14:92343882-92343882
GRCh38: 14:91877538-91877538
2 FBLN5 NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) SNV Pathogenic
5475 rs28939370 GRCh37: 14:92353597-92353597
GRCh38: 14:91887253-91887253
3 FBLN5 NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) DEL Pathogenic
689758 rs1595286986 GRCh37: 14:92336713-92336714
GRCh38: 14:91870369-91870370
4 FBLN5 NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) SNV Pathogenic
21454 rs80338766 GRCh37: 14:92353627-92353627
GRCh38: 14:91887283-91887283
5 FBLN5 NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) SNV Pathogenic
21451 rs80338767 GRCh37: 14:92343845-92343845
GRCh38: 14:91877501-91877501
6 FBLN5 NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) SNV Uncertain Significance
417872 rs372650987 GRCh37: 14:92343833-92343833
GRCh38: 14:91877489-91877489
7 FBLN5 NM_006329.4(FBLN5):c.945T>C (p.Ile315=) SNV Benign
163450 rs2430347 GRCh37: 14:92347680-92347680
GRCh38: 14:91881336-91881336
8 FBLN5 NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) SNV Not Provided
21453 rs80338765 GRCh37: 14:92357580-92357580
GRCh38: 14:91891236-91891236
9 EFEMP2 NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) SNV Not Provided
39011 rs193302867 GRCh37: 11:65638121-65638121
GRCh38: 11:65870650-65870650
10 EFEMP2 NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) SNV Not Provided
39015 rs601314 GRCh37: 11:65636053-65636053
GRCh38: 11:65868582-65868582
11 FBLN5 NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) SNV Not Provided
218359 rs144288844 GRCh37: 14:92403402-92403402
GRCh38: 14:91937058-91937058
12 FBLN5 NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) SNV Not Provided
21450 rs1802492 GRCh37: 14:92343926-92343926
GRCh38: 14:91877582-91877582
13 EFEMP2 NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) DUP Not Provided
5425 rs193302865 GRCh37: 11:65635428-65635429
GRCh38: 11:65867957-65867958
14 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) SNV Not Provided
39009 rs193302868 GRCh37: 11:65634532-65634532
GRCh38: 11:65867061-65867061
15 EFEMP2, MUS81 NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) SNV Not Provided
39010 rs61893867 GRCh37: 11:65634495-65634495
GRCh38: 11:65867024-65867024
16 EFEMP2 NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) SNV Not Provided
5423 rs119489101 GRCh37: 11:65638826-65638826
GRCh38: 11:65871355-65871355
17 EFEMP2 NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) SNV Not Provided
39012 rs193302869 GRCh37: 11:65638120-65638120
GRCh38: 11:65870649-65870649
18 EFEMP2 NM_016938.5(EFEMP2):c.577del (p.Gln193fs) DEL Not Provided
39013 rs193302870 GRCh37: 11:65637622-65637622
GRCh38: 11:65870151-65870151
19 EFEMP2 NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) SNV Not Provided
39014 rs193302864 GRCh37: 11:65637447-65637447
GRCh38: 11:65869976-65869976
20 EFEMP2 NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) SNV Not Provided
39016 rs193302866 GRCh37: 11:65636028-65636028
GRCh38: 11:65868557-65868557
21 EFEMP2 NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) SNV Not Provided
5424 rs119489102 GRCh37: 11:65635993-65635993
GRCh38: 11:65868522-65868522

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

73
# Symbol AA change Variation ID SNP ID
1 FBLN5 p.Ser227Pro VAR_017153 rs28939370
2 FBLN5 p.Cys217Arg VAR_072392 rs80338766
3 FBLN5 p.Gly267Ser VAR_072393 rs149396611

Expression for Cutis Laxa, Autosomal Recessive, Type Ia

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

Pathways for Cutis Laxa, Autosomal Recessive, Type Ia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 LTBP4 ELN EFEMP2 EFEMP1
2
Show member pathways
12 LTBP4 FBLN5 ELN EFEMP2 EFEMP1
3 11.25 FBLN5 ELN
4
Show member pathways
10.93 LTBP4 FBLN5 ELN EFEMP2 EFEMP1
5 10.36 LTBP4 ELN EFEMP2 EFEMP1

GO Terms for Cutis Laxa, Autosomal Recessive, Type Ia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.06 LTBP4 FBLN7 FBLN5 ELN EFEMP2 EFEMP1
2 collagen-containing extracellular matrix GO:0062023 9.85 EFEMP1 EFEMP2 ELN FBLN5 LTBP4
3 microfibril GO:0001527 9.56 LTBP4 EFEMP2
4 elastic fiber GO:0071953 9.43 FBLN5 ELN EFEMP2
5 extracellular matrix GO:0031012 9.4 LTBP4 FBLN7 FBLN5 ELN EFEMP2 EFEMP1

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

# Name GO ID Score Top Affiliating Genes
1 elastic fiber assembly GO:0048251 9.02 LTBP4 FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 LTBP4 FBLN7 FBLN5 EFEMP2 EFEMP1
2 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBLN5 ELN
3 extracellular matrix structural constituent GO:0005201 9.23 LTBP4 ELN EFEMP2 EFEMP1

Sources for Cutis Laxa, Autosomal Recessive, Type Ia

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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