ORPHA:287
Classical Ehlers-Danlos syndrome
Synonyms: Classical EDS · cEDS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classical Ehlers-Danlos syndrome | Classical EDS · cEDS |
| fr | Syndrome d'Ehlers-Danlos classique | EDS classique · EDSc · SED classique · SEDc |
| de | Ehlers-Danlos-Syndrom, klassischer Typ | EDS, klassisches · cEDS |
| es | Síndrome de Ehlers-Danlos clásico | SED clásico |
| it | Sindrome di Ehlers-Danlos tipo classico | EDS, tipo classico |
| nl | Klassiek syndroom van Ehlers-Danlos | Klassiek EDS · cEDS |
| pt | Síndrome Ehlers-Danlos clássico | |
| pl | Zespół Ehlersa i Danlosa, typ klasyczny | EDS, typ klasyczny |
| cs | Ehlersův-Danlosův syndrom, klasický typ | EDS, klasický typ · Ehlers-Danlosův syndrom, klasický typ |
| uk | Класичний синдром Елерса-Данлоса | cEDS · Класичний EDS |
| zh | 经典型Ehlers-Danlos综合征 | 经典型EDS |
| tr | Klasik Ehlers-Danlos sendromu | cEDS · Klasik EDS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130000 | BTNT | validated | |
| OMIM | 130010 | BTNT | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.10 | NTBT | index | validated |
| MONDO | 0007522 | E | validated | |
| UMLS | C4225429 | E | validated | |
| GARD | 2088 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases - ORPHA:167762Rare disease with dentinogenesis imperfecta
rare genetic diseases; rare odontological diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:75501OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type referred to · inactive
- ORPHA:90309OBSOLETE: Ehlers-Danlos syndrome type 1 referred to · inactive
- ORPHA:90318OBSOLETE: Ehlers-Danlos syndrome type 2 referred to · inactive
- ORPHA:230845Vascular-like classical Ehlers-Danlos syndrome moved to · inactive
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2197 | ENSG00000108821 | 120150 | 17q21.33 | collagen type I alpha 1 chain | 10739762[PMID] |
| COL5A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2209 | ENSG00000130635 | 120215 | 9q34.3 | collagen type V alpha 1 chain | 15580559[PMID]_22696272[PMID] |
| COL5A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2210 | ENSG00000204262 | 120190 | 2q32.2 | collagen type V alpha 2 chain | 15580559[PMID]_22696272[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Worldwide | Value and class | Validated | 20301422[PMID]_20847697[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
68 annotations · validated 2020-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001075 | Atrophic scars | Diagnostic criterion |
| HP:0001073 | Cigarette-paper scars | |
| HP:0001030 | Fragile skin | Diagnostic criterion |
| HP:0002761 | Generalized joint hypermobility | Diagnostic criterion |
| HP:0000974 | Hyperextensible skin | Diagnostic criterion |
| HP:0001027 | Soft, doughy skin | Diagnostic criterion |
| HP:0001065 | Striae distensae | |
| Frequent (79-30%) | ||
| HP:0012450 | Chronic constipation | |
| HP:0012378 | Fatigue | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0100790 | Hernia | Diagnostic criterion |
| HP:0001252 | Hypotonia | |
| HP:0001373 | Joint dislocation | Diagnostic criterion |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| HP:0002018 | Nausea | |
| HP:0000938 | Osteopenia | |
| HP:0001058 | Poor wound healing | |
| HP:0003771 | Pulp calcification | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0031653 | Abnormal heart valve physiology | |
| HP:0010754 | Abnormality of the temporomandibular joint | |
| HP:0001063 | Acrocyanosis | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0005294 | Arterial dissection | |
| HP:0025019 | Arterial rupture | |
| HP:0004947 | Arteriovenous fistula | |
| HP:0002829 | Arthralgia | |
| HP:0000015 | Bladder diverticulum | |
| HP:0010749 | Blepharochalasis | |
| HP:0000978 | Bruising susceptibility | Diagnostic criterion |
| HP:0030009 | Cervical insufficiency | |
| HP:0010750 | Dermatochalasis | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0003083 | Dislocated radial head | Diagnostic criterion |
| HP:0031364 | Ecchymosis | |
| HP:0000286 | Epicanthus | Diagnostic criterion |
| HP:0002036 | Hiatus hernia | Diagnostic criterion |
| HP:0002827 | Hip dislocation | |
| HP:0004872 | Incisional hernia | |
| HP:0000023 | Inguinal hernia | Diagnostic criterion |
| HP:0001386 | Joint swelling | |
| HP:0009763 | Limb pain | |
| HP:0000993 | Molluscoid pseudotumors | Diagnostic criterion |
| HP:0001270 | Motor delay | |
| HP:0002758 | Osteoarthritis | |
| HP:0002999 | Patellar dislocation | Diagnostic criterion |
| HP:0001763 | Pes planus | |
| HP:0006243 | Phalangeal dislocation | |
| HP:0025509 | Piezogenic pedal papules | |
| HP:0001622 | Premature birth | |
| HP:0001788 | Premature rupture of membranes | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0002035 | Rectal prolapse | |
| HP:0002650 | Scoliosis | |
| HP:0003834 | Shoulder dislocation | |
| HP:0025014 | Subcutaneous spheroids | Diagnostic criterion |
| HP:0001762 | Talipes equinovarus | |
| HP:0001537 | Umbilical hernia | Diagnostic criterion |
| HP:0000139 | Uterine prolapse | |
| Very rare (<4-1%) | ||
| HP:0002315 | Headache | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0001704 | Tricuspid valve prolapse | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301422[PMID]_28192633[PMID]_29121166[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/287
- This record as JSON: /data/d/287.json