Ehlers-Danlos syndrome due to tenascin-X deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: TNX DEFICIENCY
EDS DUE TO TNX DEFICIENCY
Ehlers-Danlos syndrome, classic-like type
EDS, classic-like type
Number of Symptoms 48
OrphanetNr: 230839
OMIM Id: 606408
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ehlers-Danlos syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease
Rare disease with dentinogenesis imperfecta
 -Rare genetic disease
 -Rare odontologic disease
Rare systemic disease
 -Rare systemic or rheumatologic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
Syndromic diaphragmatic or thoracic malformation
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000130) Abnormality of the uterus 86 / 7739
2
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
3
 (HPO:0000813) Bicornuate uterus 22 / 7739
4
 (HPO:0000062) Ambiguous genitalia 74 / 7739
5
 (HPO:0000061) Ambiguous genitalia, female 8 / 7739
6
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
7
 (HPO:0003474) Sensory impairment Frequent [Orphanet] 54 / 7739
8
 (HPO:0008221) Adrenal hyperplasia Occasional [Orphanet] 24 / 7739
9
 (HPO:0003994) Dislocated wrist 24 / 7739
10
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
11
 (HPO:0002999) Patellar dislocation 46 / 7739
12
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
13
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
14
 (HPO:0003042) Elbow dislocation 89 / 7739
15
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
16
 (HPO:0002829) Arthralgia 79 / 7739
17
 (HPO:0003179) Protrusio acetabuli 37 / 7739
18
 (HPO:0002827) Hip dislocation 94 / 7739
19
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
20
 (HPO:0003834) Shoulder dislocation 28 / 7739
21
 (HPO:0012095) Multiple joint dislocation 24 / 7739
22
 (HPO:0002036) Hiatus hernia 24 / 7739
23
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
24
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
25
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
26
 (HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
27
 (HPO:0000977) Soft skin 23 / 7739
28
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
29
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
30
 (HPO:0001634) Mitral valve prolapse 69 / 7739
31
 (HPO:0002621) Atherosclerosis Occasional [Orphanet] 33 / 7739
32
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
33
 (HPO:0003555) Muscle fiber splitting rare [HPO:skoehler] 11 / 7739
34
 (HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
35
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
36
 (HPO:0007126) Proximal amyotrophy rare [HPO:skoehler] 29 / 7739
37
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
38
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
39
 (HPO:0003701) Proximal muscle weakness rare [HPO:skoehler] 105 / 7739
40
 (HPO:0009025) Increased connective tissue rare [HPO:skoehler] 11 / 7739
41
 (OMIM) Tenascin X deficiency (serum and fibroblasts) 1 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (MedDRA:10070939) Wound healing normal 5 / 7739
44
 (MedDRA:10067784) Urethral prolapse 1 / 7739
45
 (OMIM) Quadricuspid aortic valve (seen in patients with contiguous gene defect) 1 / 7739
46
 (OMIM) No scarring 2 / 7739
47
 (OMIM) Single kidney 2 / 7739
48
 (OMIM) Elevated serum 17-hydroxyprogesterone level (seen in patients with contiguous gene defect) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tenascin-X deficiency leads to a clinically distinct, autosomal recessive form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility. For further background information on EDS, see 130000.
Clinical Description OMIM Burch et al. (1996) reported a 25-year-old man with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (201910), associated with an Ehlers-Danlos type II (130010)-like phenotype (consisting of hyperextensible skin and joints, patellar chondromalacia, and easy bruising). In ...
Molecular genetics OMIM In a 25-year-old man with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (201910), associated with an Ehlers-Danlos phenotype, and in his father, Burch et al. (1996) identified a 30-kb deletion resulting in loss of the CYP21 gene ...