EDSCLL
MCID: EHL081
MIFTS: 33

Ehlers-Danlos Syndrome, Classic-Like (EDSCLL)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic-Like

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Classic-Like:

Name: Ehlers-Danlos Syndrome, Classic-Like 58 76
Tnx Deficiency 58 54 76 56
Ehlers-Danlos Syndrome Due to Tenascin-X Deficiency 58 54 60
Eds Due to Tnx Deficiency 58 54 76
Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency 76 13
Ehlers-Danlos Syndrome, Classic-Like Type 54 60
Ehlers-Danlos Syndrome, Classic-Like, 1 58 6
Eds, Classic-Like Type 54 60
Edscll 58 76
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency 74
Ehlers-Danlos Syndrome Due to Tenascin X Deficiency 76
Classical-Like Ehlers-Danlos Syndrome 54
Tenascin-X Deficiency 76
Classical-Like Eds 54
Cleds 54

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome due to tenascin-x deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
some patients may present with myopathic features
some patients have a contiguous gene defect involving both the cyp21a2 and the tnxb genes


HPO:

33
ehlers-danlos syndrome, classic-like:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Classic-Like

NIH Rare Diseases : 54 Classical-like Ehlers-Danlos syndrome(EDS due to  tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising.  Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the diaphragm in the chest cavity (hiatal hernia). Classical-like EDS is caused by mutations in both copies of the TNXB gene and is inherited in an autosomal recessive manner; however, some individuals with a mutation in only one copy of the TNXB gene can have symptoms similar to EDS hypermobility type including joint hypermobility and soft skin. These individuals do not typically have easy bruising and stretchy skin. Some individuals with classical-like EDS can have larger deletions of genetic material including other genes. These individuals may have additional symptoms. For example, sometimes deletions include both the TNXB gene and the CYP21A2 gene. Mutations within this gene are associated with one type of congenital adrenal hyperplasia (CAH), a group of genetic conditions that affect the glands that sit on top of the kidneys (adrenal glands). There is no cure for classical-like EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

MalaCards based summary : Ehlers-Danlos Syndrome, Classic-Like, also known as tnx deficiency, is related to ehlers-danlos syndrome, classic-like, 2 and ehlers-danlos syndrome, and has symptoms including arthralgia An important gene associated with Ehlers-Danlos Syndrome, Classic-Like is TNXB (Tenascin XB). Affiliated tissues include skin, kidney and adrenal gland, and related phenotypes are joint hyperflexibility and muscular hypotonia

OMIM : 58 Classic-like Ehlers-Danlos syndrome is a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility (Burch et al., 1996). For a phenotypic description of classic-type EDS, see 130000. (606408)

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, classic-like: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive.

Related Diseases for Ehlers-Danlos Syndrome, Classic-Like

Diseases in the Classic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Classic Type, 1 Ehlers-Danlos Syndrome, Classic Type, 2
Ehlers-Danlos Syndrome, Classic-Like Ehlers-Danlos Syndrome, Classic-Like, 2

Diseases related to Ehlers-Danlos Syndrome, Classic-Like via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic-like, 2 33.6 AEBP1 MIR4649
2 ehlers-danlos syndrome 10.5
3 polyglucosan body myopathy 1 with or without immunodeficiency 10.4
4 fish-eye disease 10.0

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic-Like

Human phenotypes related to Ehlers-Danlos Syndrome, Classic-Like:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
2 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
3 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
4 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
5 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
6 sensory neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0000763
7 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
8 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
9 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
10 proximal muscle weakness 60 33 occasional (7.5%) Frequent (79-30%) HP:0003701
11 hyperextensible skin 60 33 frequent (33%) Frequent (79-30%) HP:0000974
12 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
13 mitral valve prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0001634
14 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
15 stroke 60 33 occasional (7.5%) Occasional (29-5%) HP:0001297
16 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
17 adrenal hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000835
18 precocious atherosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004416
19 increased connective tissue 33 occasional (7.5%) HP:0009025
20 proximal amyotrophy 33 occasional (7.5%) HP:0007126
21 muscle fiber splitting 33 occasional (7.5%) HP:0003555
22 joint hypermobility 60 33 Frequent (79-30%) HP:0001382
23 muscle weakness 60 Frequent (79-30%)
24 peripheral neuropathy 60 Frequent (79-30%)
25 vesicoureteral reflux 33 HP:0000076
26 hiatus hernia 33 HP:0002036
27 bicornuate uterus 33 HP:0000813
28 ambiguous genitalia, female 33 HP:0000061
29 soft skin 33 HP:0000977
30 quadricuspid aortic valve 33 HP:0031655

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
arthralgia
joint hypermobility
joint subluxation

Abdomen Gastrointestinal:
hiatus hernia

Genitourinary External Genitalia Female:
ambiguous genitalia (seen in patients with contiguous gene defect)

Genitourinary Kidneys:
single kidney (seen in patients with contiguous gene defect)

Muscle Soft Tissue:
proximal muscle weakness (in some patients)
proximal muscle atrophy (in some patients)
myopathic pattern seen on emg (in some patients)
internal nuclei seen on biopsy (in some patients)
muscle fiber splitting (in some patients)
more
Laboratory Abnormalities:
tenascin x deficiency (serum and fibroblasts)

Skin Nails Hair Skin:
hyperextensible skin
normal wound healing
easy bruisability
velvety skin
no scarring

Cardiovascular Heart:
quadricuspid aortic valve (seen in patients with contiguous gene defect)
mitral valve prolapse (seen in patients with contiguous gene defect)

Genitourinary Internal Genitalia Female:
bicornuate uterus (seen in patients with contiguous gene defect)

Genitourinary Bladder:
vesicoureteral reflux (seen in patients with contiguous gene defect)
urethral prolapse (seen in patients with contiguous gene defect)

Endocrine Features:
elevated serum 17-hydroxyprogesterone level (seen in patients with contiguous gene defect)

Clinical features from OMIM:

606408

UMLS symptoms related to Ehlers-Danlos Syndrome, Classic-Like:


arthralgia

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic-Like

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Classic-Like

Genetic Tests for Ehlers-Danlos Syndrome, Classic-Like

Anatomical Context for Ehlers-Danlos Syndrome, Classic-Like

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Classic-Like:

42
Skin, Kidney, Adrenal Gland, Uterus, Bone, Skeletal Muscle

Publications for Ehlers-Danlos Syndrome, Classic-Like

Articles related to Ehlers-Danlos Syndrome, Classic-Like:

# Title Authors Year
1
Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency. ( 25772043 )
2015
2
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. ( 17702048 )
2007

Variations for Ehlers-Danlos Syndrome, Classic-Like

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Classic-Like:

76
# Symbol AA change Variation ID SNP ID
1 TNXB p.Arg29Trp VAR_046499 rs368512272
2 TNXB p.Val1108Met VAR_046500 rs121912575
3 TNXB p.Arg4074Cys VAR_072582 rs587777682

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Classic-Like:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNXB NM_019105.6(TNXB): c.12524G> A (p.Ser4175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199953230 GRCh37 Chromosome 6, 32009651: 32009651
2 TNXB NM_019105.6(TNXB): c.12524G> A (p.Ser4175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199953230 GRCh38 Chromosome 6, 32041874: 32041874
3 TNXB NM_019105.6(TNXB): c.12514G> A (p.Asp4172Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200523717 GRCh37 Chromosome 6, 32009661: 32009661
4 TNXB NM_019105.6(TNXB): c.12514G> A (p.Asp4172Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200523717 GRCh38 Chromosome 6, 32041884: 32041884
5 TNXB NM_019105.6(TNXB): c.12218G> A (p.Arg4073His) single nucleotide variant Uncertain significance rs201510617 GRCh37 Chromosome 6, 32010126: 32010126
6 TNXB NM_019105.6(TNXB): c.12218G> A (p.Arg4073His) single nucleotide variant Uncertain significance rs201510617 GRCh38 Chromosome 6, 32042349: 32042349
7 TNXB NM_019105.6(TNXB): c.12174C> G (p.Cys4058Trp) single nucleotide variant Uncertain significance rs56345590 GRCh37 Chromosome 6, 32010262: 32010262
8 TNXB NM_019105.6(TNXB): c.12174C> G (p.Cys4058Trp) single nucleotide variant Uncertain significance rs56345590 GRCh38 Chromosome 6, 32042485: 32042485
9 TNXB NM_019105.6(TNXB): c.4996C> T (p.Arg1666Ter) single nucleotide variant Uncertain significance rs746016355 GRCh38 Chromosome 6, 32070409: 32070409
10 TNXB NM_019105.6(TNXB): c.4996C> T (p.Arg1666Ter) single nucleotide variant Uncertain significance rs746016355 GRCh37 Chromosome 6, 32038186: 32038186
11 TNXB NM_019105.6(TNXB): c.9655G> A (p.Val3219Met) single nucleotide variant Uncertain significance rs367685759 GRCh37 Chromosome 6, 32017143: 32017143
12 TNXB NM_019105.6(TNXB): c.9655G> A (p.Val3219Met) single nucleotide variant Uncertain significance rs367685759 GRCh38 Chromosome 6, 32049366: 32049366
13 TNXB NM_019105.6(TNXB): c.9631A> G (p.Arg3211Gly) single nucleotide variant Uncertain significance rs377386505 GRCh37 Chromosome 6, 32017167: 32017167
14 TNXB NM_019105.6(TNXB): c.9631A> G (p.Arg3211Gly) single nucleotide variant Uncertain significance rs377386505 GRCh38 Chromosome 6, 32049390: 32049390
15 TNXB TNXB, 30-KB DEL deletion Pathogenic
16 TNXB NM_019105.6(TNXB): c.3290_3291delAA (p.Lys1097Argfs) deletion Pathogenic rs764070148 GRCh37 Chromosome 6, 32052344: 32052345
17 TNXB NM_019105.6(TNXB): c.3290_3291delAA (p.Lys1097Argfs) deletion Pathogenic rs764070148 GRCh38 Chromosome 6, 32084567: 32084568
18 TNXB NM_019105.7(TNXB): c.2116_2117dup (p.Glu707Terfs) duplication Pathogenic rs144556766 GRCh37 Chromosome 6, 32063513: 32063514
19 TNXB NM_019105.7(TNXB): c.2116_2117dup (p.Glu707Terfs) duplication Pathogenic rs144556766 GRCh38 Chromosome 6, 32095736: 32095737
20 TNXB NM_019105.6(TNXB): c.3322G> A (p.Val1108Met) single nucleotide variant Uncertain significance rs121912575 GRCh37 Chromosome 6, 32052313: 32052313
21 TNXB NM_019105.6(TNXB): c.3322G> A (p.Val1108Met) single nucleotide variant Uncertain significance rs121912575 GRCh38 Chromosome 6, 32084536: 32084536
22 TNXB NM_032470.3(TNXB): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs587777682 GRCh37 Chromosome 6, 32010130: 32010130
23 TNXB NM_032470.3(TNXB): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs587777682 GRCh38 Chromosome 6, 32042353: 32042353

Expression for Ehlers-Danlos Syndrome, Classic-Like

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Classic-Like.

Pathways for Ehlers-Danlos Syndrome, Classic-Like

GO Terms for Ehlers-Danlos Syndrome, Classic-Like

Cellular components related to Ehlers-Danlos Syndrome, Classic-Like according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.62 AEBP1 TNXB

Molecular functions related to Ehlers-Danlos Syndrome, Classic-Like according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 AEBP1 TNXB

Sources for Ehlers-Danlos Syndrome, Classic-Like

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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