EDSARTH2
MCID: EHL087
MIFTS: 45

Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 (EDSARTH2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

Name: Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 57 72 29 6
Eds Viib 57 72 70
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant 57 72
Edsarth2 57 72
Eds7b 57 72
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant; Eds7b 57
Ehlers-Danlos Syndrome Arthrochalasia Type 2 12
Ehlers-Danlos Syndrome, Type Viib 39
Ehlers-Danlos Syndrome, Type 7b 29
Ehlers-Danlos Syndrome Type 7b 6
Ehlers-Danlos Syndrome 7b 72

Characteristics:

OMIM®:

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

Miscellaneous:
easy or excessive bleeding noted during surgery


HPO:

31
ehlers-danlos syndrome, arthrochalasia type, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, arthrochalasia type, 2: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.

MalaCards based summary : Ehlers-Danlos Syndrome, Arthrochalasia Type, 2, also known as eds viib, is related to ehlers-danlos syndrome, arthrochalasia type, 1 and ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Vesicle-mediated transport and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include bone, and related phenotypes are talipes equinovarus and bladder diverticulum

Disease Ontology : 12 An Ehlers-Danlos syndrome that has material basis in heterozygous mutation in the COL1A2 gene on chromosome 7q21.

OMIM® : 57 Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. (617821) (Updated 20-May-2021)

Related Diseases for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Diseases in the Arthrochalasia Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, arthrochalasia type, 1 31.6 COL1A1 ALB
2 ehlers-danlos syndrome 30.7 COL1A2 COL1A1
3 brittle bone disorder 29.8 COL1A2 COL1A1
4 umbilical hernia 10.3
5 hypermobile ehlers-danlos syndrome 10.3
6 ehlers-danlos/osteogenesis imperfecta syndrome 9.8 COL1A2 COL1A1
7 col1a1/2 osteogenesis imperfecta 9.8 COL1A2 COL1A1
8 high bone mass osteogenesis imperfecta 9.8 COL1A2 COL1A1
9 larsen-like syndrome 9.8 COL1A2 COL1A1
10 fibrogenesis imperfecta ossium 9.8 COL1A2 COL1A1
11 scleroderma, familial progressive 9.8 COL1A2 COL1A1
12 diffuse scleroderma 9.8 COL1A2 COL1A1
13 syndromic x-linked intellectual disability cabezas type 9.8 COL1A2 COL1A1
14 osteogenesis imperfecta, type v 9.8 COL1A2 COL1A1
15 osteogenesis imperfecta, type vii 9.8 COL1A2 COL1A1
16 classic ehlers-danlos syndrome 9.8 COL1A2 COL1A1
17 x-linked alport syndrome 9.8 COL1A2 COL1A1
18 bruck syndrome 9.8 COL1A2 COL1A1
19 caffey disease 9.8 COL1A2 COL1A1
20 osteoporosis, juvenile 9.8 COL1A2 COL1A1
21 spinal stenosis 9.8 COL1A2 COL1A1
22 osteogenesis imperfecta, type i 9.8 COL1A2 COL1A1
23 oral submucous fibrosis 9.8 COL1A2 COL1A1
24 collagen disease 9.8 COL1A2 COL1A1
25 pelvic organ prolapse 9.8 COL1A2 COL1A1
26 osteogenesis imperfecta, type ii 9.8 COL1A2 COL1A1
27 bone structure disease 9.8 COL1A2 COL1A1
28 osteogenesis imperfecta, type iv 9.7 COL1A2 COL1A1
29 ehlers-danlos syndrome, classic type, 1 9.7 COL1A2 COL1A1
30 portal hypertension 9.7 COL1A1 ALB
31 dentinogenesis imperfecta 9.7 COL1A2 COL1A1
32 osteogenesis imperfecta, type iii 9.7 COL1A2 COL1A1
33 bone development disease 9.7 COL1A2 COL1A1
34 endosteal hyperostosis, autosomal dominant 9.7 COL1A2 COL1A1
35 hyperostosis 9.7 COL1A2 COL1A1
36 otosclerosis 9.7 COL1A2 COL1A1
37 stickler syndrome 9.7 COL1A2 COL1A1
38 marfan syndrome 9.6 COL1A2 COL1A1
39 congenital hypothyroidism 9.6 COL1A1 ALB
40 hemorrhagic disease 9.6 COL1A1 ALB
41 arthrochalasia ehlers-danlos syndrome 9.5 COL1A2 COL1A1 ALB
42 ehlers-danlos syndrome, cardiac valvular type 9.5 COL1A2 COL1A1 ALB
43 bone resorption disease 9.5 COL1A2 COL1A1 ALB
44 bone remodeling disease 9.5 COL1A2 COL1A1 ALB
45 phenylketonuria 9.5 COL1A2 COL1A1 ALB
46 alport syndrome 9.5 COL1A2 COL1A1 ALB
47 pulmonary fibrosis, idiopathic 9.5 COL1A2 COL1A1 ALB
48 scoliosis 9.5 COL1A2 COL1A1 ALB
49 connective tissue disease 9.5 COL1A2 COL1A1 ALB
50 osteoporosis 9.5 COL1A2 COL1A1 ALB

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:



Diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 very rare (1%) HP:0001762
2 bladder diverticulum 31 very rare (1%) HP:0000015
3 atrophic scars 31 very rare (1%) HP:0001075
4 scoliosis 31 HP:0002650
5 kyphosis 31 HP:0002808
6 hyperlordosis 31 HP:0003307
7 pes planus 31 HP:0001763
8 hip dislocation 31 HP:0002827
9 hallux valgus 31 HP:0001822
10 bruising susceptibility 31 HP:0000978
11 wormian bones 31 HP:0002645
12 hyperextensible skin 31 HP:0000974
13 delayed gross motor development 31 HP:0002194
14 generalized hypotonia 31 HP:0001290
15 fragile skin 31 HP:0001030
16 joint subluxation 31 HP:0032153
17 soft skin 31 HP:0000977
18 breech presentation 31 HP:0001623
19 hyperextensibility of the finger joints 31 HP:0001187

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis
lordosis

Skeletal Skull:
wormian bones
'salt and pepper' stippling of calvarium (rare)

Neurologic Central Nervous System:
delayed gross motor development
hypotonia

Skeletal Limbs:
recurrent joint subluxation
joint hypermobility, severe
dislocation or subluxation of elbows
dislocation or subluxation of shoulders
dislocation or subluxation of wrists
more
Skeletal:
fractures (in some patients)

Skeletal Feet:
medial subluxation of great toes
bilateral metatarsus varus deformity
hallux valgus, severe
pes planus, severe
clubfeet (rare)

Skeletal Pelvis:
hip dislocation

Skin Nails Hair Skin:
hyperextensible skin
soft skin
easy bruisability
thin, velvety skin
fragile skin, mild
more
Prenatal Manifestations Delivery:
breech presentation

Skeletal Hands:
hyperextensible fingers
subluxation of first carpometacarpal joints

Genitourinary Bladder:
bladder diverticula (rare)

Clinical features from OMIM®:

617821 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ALB COL1A1 COL1A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Genetic tests related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 7b 29
2 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

40
Bone

Publications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Articles related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

(show all 25)
# Title Authors PMID Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. 6 57
18409203 2008
2
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. 6 57
1577745 1992
3
Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain. 57 6
1712342 1991
4
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. 6 57
2777808 1989
5
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. 57 6
2454224 1988
6
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. 57 6
3680255 1987
7
Ehlers-Danlos syndrome: yet another type? 6 57
3621666 1987
8
A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. 57 6
2993307 1985
9
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. 57 6
6773953 1980
10
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. 57 6
4742738 1973
11
A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. 61 6
1556139 1992
12
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
13
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 57
9295084 1997
14
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. 57
8071956 1994
15
Ehlers-Danlos syndrome type VII: phenotype and genotype. 6
7864655 1994
16
Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII. 6
8081389 1994
17
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 6
8347685 1993
18
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 6
1867198 1991
19
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. 6
1990839 1991
20
Point substitutions in albumin genetic variants from Asia. 6
2404284 1990
21
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. 6
2767050 1989
22
Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes. 6
3733683 1986
23
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. 6
3082886 1986
24
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 6
6462220 1984
25
[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects]. 61
8526413 1995

Variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

6 (show top 50) (show all 295)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A1 NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) SNV Pathogenic 17311 rs72667022 GRCh37: 17:48275794-48275794
GRCh38: 17:50198433-50198433
2 COL1A1 NM_000088.3(COL1A1):c.472-1G>A SNV Pathogenic 17339 rs72667020 GRCh37: 17:48275866-48275866
GRCh38: 17:50198505-50198505
3 COL1A1 NM_000088.3(COL1A1):c.472-2A>T SNV Pathogenic 17350 rs72667019 GRCh37: 17:48275867-48275867
GRCh38: 17:50198506-50198506
4 ALB NM_000477.5(ALB):c.71G>A (p.Arg24Gln) SNV Pathogenic 18185 rs74821926 GRCh37: 4:74270115-74270115
GRCh38: 4:73404398-73404398
5 COL1A2 COL1A2, EX6DEL Deletion Pathogenic 17232 GRCh37:
GRCh38:
6 COL1A2 NM_000089.3(COL1A2):c.279+2T>C SNV Pathogenic 17233 rs72656357 GRCh37: 7:94030934-94030934
GRCh38: 7:94401622-94401622
7 COL1A2 NM_000089.4(COL1A2):c.279G>A (p.Met93Ile) SNV Pathogenic 456826 rs72656356 GRCh37: 7:94030932-94030932
GRCh38: 7:94401620-94401620
8 COL1A2 NM_000089.4(COL1A2):c.279+1G>A SNV Pathogenic 17251 rs67398234 GRCh37: 7:94030933-94030933
GRCh38: 7:94401621-94401621
9 COL1A2 NM_000089.3(COL1A2):c.226-1G>C SNV Pathogenic 17256 rs66820119 GRCh37: 7:94030878-94030878
GRCh38: 7:94401566-94401566
10 COL1A2 NM_000089.3(COL1A2):c.226-2A>G SNV Pathogenic 17270 rs72656355 GRCh37: 7:94030877-94030877
GRCh38: 7:94401565-94401565
11 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) SNV Pathogenic 456848 rs66612022 GRCh37: 7:94039080-94039080
GRCh38: 7:94409768-94409768
12 COL1A2 NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val) SNV Pathogenic 579070 rs67543427 GRCh37: 7:94039769-94039769
GRCh38: 7:94410457-94410457
13 COL1A2 NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) SNV Pathogenic 216908 rs72659319 GRCh37: 7:94055771-94055771
GRCh38: 7:94426459-94426459
14 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic 17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
15 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic 447141 rs67879854 GRCh37: 17:48267939-48267939
GRCh38: 17:50190578-50190578
16 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826
17 COL1A1 NM_000088.3(COL1A1):c.1821+1G>A SNV Pathogenic 425580 rs66555264 GRCh37: 17:48270354-48270354
GRCh38: 17:50192993-50192993
18 COL1A1 NM_000088.3(COL1A1):c.1299+1G>A SNV Pathogenic 425599 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
19 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) SNV Pathogenic 425597 rs72648326 GRCh37: 17:48272649-48272649
GRCh38: 17:50195288-50195288
20 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) SNV Pathogenic 17312 rs72645357 GRCh37: 17:48273524-48273524
GRCh38: 17:50196163-50196163
21 COL1A2 NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val) SNV Likely pathogenic 638318 rs1562906013 GRCh37: 7:94052270-94052270
GRCh38: 7:94422958-94422958
22 COL1A2 NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) SNV Likely pathogenic 644457 rs1584320605 GRCh37: 7:94040458-94040458
GRCh38: 7:94411146-94411146
23 COL1A1 NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) SNV Likely pathogenic 425637 rs72667036 GRCh37: 17:48275131-48275131
GRCh38: 17:50197770-50197770
24 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) SNV Likely pathogenic 450546 rs1555574303 GRCh37: 17:48273533-48273533
GRCh38: 17:50196172-50196172
25 COL1A2 NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu) SNV Likely pathogenic 1031384 GRCh37: 7:94050349-94050349
GRCh38: 7:94421037-94421037
26 COL1A2 NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr) SNV Uncertain significance 360967 rs886062518 GRCh37: 7:94056551-94056551
GRCh38: 7:94427239-94427239
27 COL1A2 NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=) SNV Uncertain significance 911981 GRCh37: 7:94056941-94056941
GRCh38: 7:94427629-94427629
28 COL1A2 NM_000089.3(COL1A2):c.3792C>T (p.Ala1264=) SNV Uncertain significance 509413 rs745413783 GRCh37: 7:94058580-94058580
GRCh38: 7:94429268-94429268
29 COL1A2 NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) SNV Uncertain significance 717591 rs151256720 GRCh37: 7:94042446-94042446
GRCh38: 7:94413134-94413134
30 COL1A2 NM_000089.4(COL1A2):c.2187+14A>G SNV Uncertain significance 910700 GRCh37: 7:94049770-94049770
GRCh38: 7:94420458-94420458
31 COL1A2 NM_000089.4(COL1A2):c.3870C>T (p.Val1290=) SNV Uncertain significance 912035 GRCh37: 7:94058658-94058658
GRCh38: 7:94429346-94429346
32 COL1A2 NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe) SNV Uncertain significance 912036 GRCh37: 7:94058686-94058686
GRCh38: 7:94429374-94429374
33 COL1A2 NM_000089.4(COL1A2):c.*561T>C SNV Uncertain significance 912081 GRCh37: 7:94060266-94060266
GRCh38: 7:94430954-94430954
34 COL1A2 NM_000089.4(COL1A2):c.*584A>T SNV Uncertain significance 912082 GRCh37: 7:94060289-94060289
GRCh38: 7:94430977-94430977
35 COL1A2 NM_000089.4(COL1A2):c.*601A>G SNV Uncertain significance 912083 GRCh37: 7:94060306-94060306
GRCh38: 7:94430994-94430994
36 COL1A2 NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) SNV Uncertain significance 909053 GRCh37: 7:94056954-94056954
GRCh38: 7:94427642-94427642
37 COL1A2 NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) SNV Uncertain significance 909054 GRCh37: 7:94057164-94057164
GRCh38: 7:94427852-94427852
38 COL1A2 NM_000089.4(COL1A2):c.384T>A (p.Pro128=) SNV Uncertain significance 908809 GRCh37: 7:94034156-94034156
GRCh38: 7:94404844-94404844
39 COL1A2 NM_000089.4(COL1A2):c.1686T>A (p.Gly562=) SNV Uncertain significance 908924 GRCh37: 7:94043554-94043554
GRCh38: 7:94414242-94414242
40 COL1A2 NM_000089.4(COL1A2):c.*131G>T SNV Uncertain significance 909121 GRCh37: 7:94059836-94059836
GRCh38: 7:94430524-94430524
41 COL1A2 NM_000089.4(COL1A2):c.*193C>T SNV Uncertain significance 909122 GRCh37: 7:94059898-94059898
GRCh38: 7:94430586-94430586
42 COL1A2 NC_000007.14:g.94394880G>A SNV Uncertain significance 909602 GRCh37: 7:94024192-94024192
GRCh38: 7:94394880-94394880
43 COL1A2 NC_000007.14:g.94394882G>C SNV Uncertain significance 909603 GRCh37: 7:94024194-94024194
GRCh38: 7:94394882-94394882
44 COL1A2 NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) SNV Uncertain significance 909660 GRCh37: 7:94038119-94038119
GRCh38: 7:94408807-94408807
45 COL1A2 NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) SNV Uncertain significance 909723 GRCh37: 7:94039607-94039607
GRCh38: 7:94410295-94410295
46 COL1A2 NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg) SNV Uncertain significance 909861 GRCh37: 7:94055120-94055120
GRCh38: 7:94425808-94425808
47 COL1A2 NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=) SNV Uncertain significance 909913 GRCh37: 7:94057777-94057777
GRCh38: 7:94428465-94428465
48 COL1A2 NM_000089.4(COL1A2):c.*329A>G SNV Uncertain significance 909968 GRCh37: 7:94060034-94060034
GRCh38: 7:94430722-94430722
49 COL1A2 NM_000089.4(COL1A2):c.3106-11T>C SNV Uncertain significance 910758 GRCh37: 7:94056309-94056309
GRCh38: 7:94426997-94426997
50 COL1A2 NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=) SNV Uncertain significance 910815 GRCh37: 7:94058529-94058529
GRCh38: 7:94429217-94429217

Expression for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2.

Pathways for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Pathways related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 COL1A2 COL1A1 ALB
2
Show member pathways
12.11 COL1A2 COL1A1
3 11.86 COL1A2 COL1A1
4
Show member pathways
11.8 COL1A2 COL1A1
5
Show member pathways
11.72 COL1A2 COL1A1
6 11.59 COL1A2 COL1A1
7 11.49 COL1A2 COL1A1
8 11.46 COL1A2 COL1A1
9 11.23 COL1A2 COL1A1
10 11.19 COL1A2 COL1A1
11 11.08 COL1A2 COL1A1
12 10.92 COL1A2 COL1A1
13 10.85 COL1A2 COL1A1
14
Show member pathways
10.82 COL1A2 COL1A1 ALB
15 10.67 COL1A2 COL1A1
16 10.32 COL1A2 COL1A1

GO Terms for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Cellular components related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.43 COL1A2 COL1A1 ALB
2 extracellular matrix GO:0031012 9.32 COL1A2 COL1A1
3 collagen trimer GO:0005581 9.16 COL1A2 COL1A1
4 endoplasmic reticulum lumen GO:0005788 9.13 COL1A2 COL1A1 ALB
5 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

Biological processes related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.48 COL1A2 COL1A1
2 regulation of immune response GO:0050776 9.46 COL1A2 COL1A1
3 leukocyte migration GO:0050900 9.43 COL1A2 COL1A1
4 blood coagulation GO:0007596 9.4 COL1A2 COL1A1
5 skeletal system development GO:0001501 9.37 COL1A2 COL1A1
6 platelet activation GO:0030168 9.32 COL1A2 COL1A1
7 blood vessel development GO:0001568 9.26 COL1A2 COL1A1
8 cellular response to amino acid stimulus GO:0071230 9.16 COL1A2 COL1A1
9 collagen fibril organization GO:0030199 8.96 COL1A2 COL1A1
10 skin morphogenesis GO:0043589 8.62 COL1A2 COL1A1

Molecular functions related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 COL1A2 COL1A1 ALB
2 extracellular matrix structural constituent GO:0005201 9.26 COL1A2 COL1A1
3 protease binding GO:0002020 9.16 COL1A2 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
5 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

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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