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

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 13 39
Autosomal Recessive Cutis Laxa Type Ia 12 29 6 15
Arcl1a 57 12 72
Cutis Laxa, Autosomal Recessive 57 29
Cutis Laxa, Autosomal Recessive, Type I 70
Cutis Laxa Autosomal Recessive Type Ia 72
Cutis Laxa Autosomal Recessive Type I 72
Cutis Laxa, Autosomal Recessive, 1a 72
Cl Type I 72
Arcl1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
cutis laxa, autosomal recessive, type ia:
Inheritance autosomal recessive inheritance heterogeneous


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 20-May-2021)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Ia, also known as autosomal recessive cutis laxa type ia, is related to efemp2-related cutis laxa and cutis laxa, autosomal recessive, type iiia. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ia is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include eye and skin, and related phenotypes are inguinal hernia and recurrent respiratory infections

Disease Ontology : 12 An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

UniProtKB/Swiss-Prot : 72 Cutis laxa, autosomal recessive, 1A: 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.

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 efemp2-related cutis laxa 32.5 MUS81 EFEMP2
2 cutis laxa, autosomal recessive, type iiia 32.4 RIN2 PYCR1 GORAB ATP6V0A2 ALDH18A1
3 cutis laxa, autosomal recessive, type iiib 32.2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2 ALDH18A1
4 cutis laxa, autosomal recessive, type iid 30.5 RIN2 LTBP4 GORAB ATP6V1E1 ATP6V0A2 ALDH18A1
5 wrinkly skin syndrome 30.5 PYCR1 ATP6V0A2
6 cutis laxa, autosomal recessive, type ic 30.4 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
7 cutis laxa, autosomal recessive, type iib 30.4 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
8 cutis laxa, autosomal dominant 1 30.2 SLC2A10 FBN1 FBLN5 ELN EFEMP2 ALDH18A1
9 autosomal recessive cutis laxa type i 29.5 SLC2A10 RIN2 PYCR1 MUS81 LTBP4 GORAB
10 cutis laxa, autosomal recessive, type iia 29.4 RIN2 RAB6A PYCR1 LTBP4 GORAB FBLN5
11 cutis laxa, autosomal recessive, type ib 28.5 RIN2 PYCR1 MUS81 LTBP4 GORAB FBN1
12 cutis laxa 27.2 RIN2 PYCR1 MUS81 LTBP4 LOXL1 GORAB
13 atp6v0a2-related cutis laxa 11.3
14 cutis laxa, autosomal dominant 3 10.9
15 cutis laxa, autosomal recessive, type iic 10.9
16 meester-loeys syndrome 10.2 SLC2A10 EFEMP2
17 macs syndrome 10.2 RIN2 FBLN5
18 spastic paraplegia 9b, autosomal recessive 10.2 PYCR1 ALDH18A1
19 spastic paraplegia 9a, autosomal dominant 10.2 PYCR1 ALDH18A1
20 leukodystrophy, hypomyelinating, 10 10.1 PYCR1 ALDH18A1
21 alacrima, achalasia, and mental retardation syndrome 10.1
22 proximal spinal muscular atrophy 10.1 RAB6A FBLN5
23 subclavian artery aneurysm 10.1 SLC2A10 FBN1
24 aortic aneurysm, familial thoracic 2 10.1 SLC2A10 FBN1
25 diaphragmatic eventration 10.0 LTBP4 FBN1
26 acquired cutis laxa 10.0 FBLN5 ELN
27 aortic aneurysm, familial thoracic 6 10.0 SLC2A10 FBN1
28 progeroid syndrome 10.0 PYCR1 FBN1
29 loeys-dietz syndrome 3 10.0 SLC2A10 FBN1 EFEMP2
30 loeys-dietz syndrome 4 9.9 SLC2A10 FBN1
31 cutis laxa, autosomal dominant 2 9.9 FBLN5 ELN
32 late-onset focal dermal elastosis 9.9 FBN1 ELN
33 lens subluxation 9.9 LOXL1 FBN1
34 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.9 FBN1 ELN
35 familial abdominal aortic aneurysm 9.9 FBN1 ELN
36 chronic actinic dermatitis 9.9 FBN1 ELN
37 tricuspid valve prolapse 9.9 SLC2A10 FBN1 FBLN5 EFEMP2
38 neu-laxova syndrome 2 9.8 ELN ALDH18A1
39 hemopericardium 9.8 FBN1 ELN
40 ehlers-danlos syndrome, vascular type 9.8 FBN1 ELN
41 fbln5-related cutis laxa 9.8 MUS81 FBLN5 ELN EFEMP2
42 mid-dermal elastolysis 9.8 FBN1 FBLN5 ELN
43 aortic valve insufficiency 9.7 FBN1 ELN EFEMP2
44 pneumothorax 9.7 FBN1 FBLN5 ELN
45 costello syndrome 9.7 FBN1 FBLN5 ELN
46 diaphragmatic hernia, congenital 9.7 FBN1 ELN EFEMP2
47 loeys-dietz syndrome 1 9.7 SLC2A10 FBN1
48 aortic aneurysm, familial abdominal, 1 9.7 FBN1 ELN EFEMP2
49 mitral valve insufficiency 9.6 FBN1 ELN
50 ureteric orifice cancer 9.6 FBN1 FBLN5 ELN EFEMP2

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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 recurrent respiratory infections 31 HP:0002205
3 umbilical hernia 31 HP:0001537
4 microcephaly 31 HP:0000252
5 pectus excavatum 31 HP:0000767
6 joint laxity 31 HP:0001388
7 emphysema 31 HP:0002097
8 abnormality of the face 31 HP:0000271
9 arachnodactyly 31 HP:0001166
10 bladder diverticulum 31 HP:0000015
11 redundant skin 31 HP:0001582
12 supravalvular aortic stenosis 31 HP:0004381
13 congenital diaphragmatic hernia 31 HP:0000776
14 oligohydramnios 31 HP:0001562
15 overgrowth 31 HP:0001548
16 ascending tubular aorta aneurysm 31 HP:0004970
17 vascular tortuosity 31 HP:0004948

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.56 ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 FBN1 GORAB
2 respiratory system MP:0005388 9.23 EFEMP2 FBLN5 FBN1 GORAB LOXL1 LTBP4

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 Autosomal Recessive Cutis Laxa Type Ia 29 FBLN5
2 Cutis Laxa, Autosomal Recessive 29

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Ia

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

40
Eye, Skin

Publications for Cutis Laxa, Autosomal Recessive, Type Ia

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

(show all 26)
# Title Authors PMID Year
1
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 6 57
22829427 2013
2
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 57 6
17035250 2006
3
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 6 57
12189163 2002
4
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. 57 6
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. 6
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
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation. 61
24962763 2014

Variations for Cutis Laxa, Autosomal Recessive, Type Ia

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

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

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

72
# 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
12.09 LTBP4 LOXL1 FBN1 FBLN5 ELN EFEMP2
2
Show member pathways
10.96 LTBP4 LOXL1 FBN1 FBLN5 ELN EFEMP2
3
Show member pathways
10.54 PYCR1 ALDH18A1

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 collagen-containing extracellular matrix GO:0062023 9.63 LTBP4 LOXL1 FBN1 FBLN5 ELN EFEMP2
2 basement membrane GO:0005604 9.5 LOXL1 FBN1 EFEMP2
3 microfibril GO:0001527 9.43 LTBP4 FBN1 EFEMP2
4 extracellular matrix GO:0031012 9.43 LTBP4 LOXL1 FBN1 FBLN5 ELN EFEMP2
5 elastic fiber GO:0071953 8.8 FBLN5 ELN EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.56 LOXL1 FBN1 FBLN5 ELN
2 proton transmembrane transport GO:1902600 9.5 SLC2A10 ATP6V1E1 ATP6V0A2
3 transferrin transport GO:0033572 9.43 ATP6V1E1 ATP6V0A2
4 phagosome acidification GO:0090383 9.4 ATP6V1E1 ATP6V0A2
5 aorta development GO:0035904 9.37 LOXL1 EFEMP2
6 L-proline biosynthetic process GO:0055129 9.16 PYCR1 ALDH18A1
7 proline biosynthetic process GO:0006561 8.96 PYCR1 ALDH18A1
8 elastic fiber assembly GO:0048251 8.8 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 integrin binding GO:0005178 9.43 LTBP4 FBN1 FBLN5
2 extracellular matrix structural constituent GO:0005201 9.26 LTBP4 FBN1 ELN EFEMP2
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.16 ATP6V1E1 ATP6V0A2
4 extracellular matrix constituent conferring elasticity GO:0030023 8.8 FBN1 FBLN5 ELN

Sources for Cutis Laxa, Autosomal Recessive, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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