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 57 75
Tnx Deficiency 57 53 75 55
Ehlers-Danlos Syndrome Due to Tenascin-X Deficiency 57 53 59
Eds Due to Tnx Deficiency 57 53 75
Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency 75 13
Ehlers-Danlos Syndrome, Classic-Like Type 53 59
Ehlers-Danlos Syndrome, Classic-Like, 1 57 6
Eds, Classic-Like Type 53 59
Edscll 57 75
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency 73
Ehlers-Danlos Syndrome Due to Tenascin X Deficiency 75
Classical-Like Ehlers-Danlos Syndrome 53
Tenascin-X Deficiency 75
Classical-Like Eds 53
Cleds 53

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome due to tenascin-x deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
ehlers-danlos syndrome, classic-like:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Classic-Like

NIH Rare Diseases : 53 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 muscular hypotonia and fatigue

OMIM : 57 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 : 75 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 33.8 AEBP1 MIR4649
2 ehlers-danlos syndrome 10.5
3 polyglucosan body myopathy 1 with or without immunodeficiency 10.4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
2 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
3 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
4 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
5 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
6 sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000763
7 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
8 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
9 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
10 joint hypermobility 59 32 Frequent (79-30%) HP:0001382
11 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
12 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
13 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
14 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
15 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
16 proximal muscle weakness 59 32 occasional (7.5%) Frequent (79-30%) HP:0003701
17 hyperextensible skin 59 32 frequent (33%) Frequent (79-30%) HP:0000974
18 adrenal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000835
19 precocious atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004416
20 muscle weakness 59 Frequent (79-30%)
21 peripheral neuropathy 59 Frequent (79-30%)
22 vesicoureteral reflux 32 HP:0000076
23 hiatus hernia 32 HP:0002036
24 increased connective tissue 32 occasional (7.5%) HP:0009025
25 proximal amyotrophy 32 occasional (7.5%) HP:0007126
26 bicornuate uterus 32 HP:0000813
27 muscle fiber splitting 32 occasional (7.5%) HP:0003555
28 ambiguous genitalia, female 32 HP:0000061
29 soft skin 32 HP:0000977
30 quadricuspid aortic valve 32 HP:0031655

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:

41
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:

75
# Symbol AA change Variation ID SNP ID
1 TNXB p.Arg29Trp VAR_046499
2 TNXB p.Val1108Met VAR_046500
3 TNXB p.Arg4074Cys VAR_072582

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

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNXB TNXB, 30-KB DEL deletion Pathogenic
2 TNXB NM_019105.6(TNXB): c.3290_3291delAA (p.Lys1097Argfs) deletion Pathogenic rs764070148 GRCh37 Chromosome 6, 32052344: 32052345
3 TNXB NM_019105.6(TNXB): c.3290_3291delAA (p.Lys1097Argfs) deletion Pathogenic rs764070148 GRCh38 Chromosome 6, 32084567: 32084568
4 TNXB NM_019105.6(TNXB): c.2116_2117dupGT (p.Glu707Terfs) duplication Pathogenic rs786200907 GRCh37 Chromosome 6, 32063513: 32063514
5 TNXB NM_019105.6(TNXB): c.2116_2117dupGT (p.Glu707Terfs) duplication Pathogenic rs786200907 GRCh38 Chromosome 6, 32095736: 32095737
6 TNXB NM_019105.6(TNXB): c.3322G> A (p.Val1108Met) single nucleotide variant Uncertain significance rs121912575 GRCh37 Chromosome 6, 32052313: 32052313
7 TNXB NM_019105.6(TNXB): c.3322G> A (p.Val1108Met) single nucleotide variant Uncertain significance rs121912575 GRCh38 Chromosome 6, 32084536: 32084536
8 TNXB NM_019105.6(TNXB): c.12214C> T (p.Arg4072Cys) single nucleotide variant Pathogenic rs587777682 GRCh37 Chromosome 6, 32010130: 32010130
9 TNXB NM_019105.6(TNXB): c.12214C> T (p.Arg4072Cys) single nucleotide variant Pathogenic rs587777682 GRCh38 Chromosome 6, 32042353: 32042353
10 TNXB NM_019105.6(TNXB): c.12524G> A (p.Ser4175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199953230 GRCh37 Chromosome 6, 32009651: 32009651
11 TNXB NM_019105.6(TNXB): c.12524G> A (p.Ser4175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199953230 GRCh38 Chromosome 6, 32041874: 32041874
12 TNXB NM_019105.6(TNXB): c.12514G> A (p.Asp4172Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200523717 GRCh37 Chromosome 6, 32009661: 32009661
13 TNXB NM_019105.6(TNXB): c.12514G> A (p.Asp4172Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200523717 GRCh38 Chromosome 6, 32041884: 32041884
14 TNXB NM_019105.6(TNXB): c.12218G> A (p.Arg4073His) single nucleotide variant Uncertain significance rs201510617 GRCh37 Chromosome 6, 32010126: 32010126
15 TNXB NM_019105.6(TNXB): c.12218G> A (p.Arg4073His) single nucleotide variant Uncertain significance rs201510617 GRCh38 Chromosome 6, 32042349: 32042349
16 TNXB NM_019105.6(TNXB): c.12174C> G (p.Cys4058Trp) single nucleotide variant Uncertain significance rs56345590 GRCh37 Chromosome 6, 32010262: 32010262
17 TNXB NM_019105.6(TNXB): c.12174C> G (p.Cys4058Trp) single nucleotide variant Uncertain significance rs56345590 GRCh38 Chromosome 6, 32042485: 32042485
18 TNXB NM_019105.6(TNXB): c.4996C> T (p.Arg1666Ter) single nucleotide variant Uncertain significance rs746016355 GRCh38 Chromosome 6, 32070409: 32070409
19 TNXB NM_019105.6(TNXB): c.4996C> T (p.Arg1666Ter) single nucleotide variant Uncertain significance rs746016355 GRCh37 Chromosome 6, 32038186: 32038186
20 TNXB NM_019105.6(TNXB): c.9655G> A (p.Val3219Met) single nucleotide variant Uncertain significance rs367685759 GRCh37 Chromosome 6, 32017143: 32017143
21 TNXB NM_019105.6(TNXB): c.9655G> A (p.Val3219Met) single nucleotide variant Uncertain significance rs367685759 GRCh38 Chromosome 6, 32049366: 32049366
22 TNXB NM_019105.6(TNXB): c.9631A> G (p.Arg3211Gly) single nucleotide variant Uncertain significance rs377386505 GRCh37 Chromosome 6, 32017167: 32017167
23 TNXB NM_019105.6(TNXB): c.9631A> G (p.Arg3211Gly) single nucleotide variant Uncertain significance rs377386505 GRCh38 Chromosome 6, 32049390: 32049390

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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