ORPHA:220407
Limited systemic sclerosis
Synonyms: Systemic sclerosis sine scleroderma
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Limited systemic sclerosis | Systemic sclerosis sine scleroderma |
| fr | Sclérose systémique limitée | Sclérodermie systémique sans sclérose cutanée · Sclérose systémique sans sclérodermie |
| de | Systemische Sklerose, limitierte | Systemische Sklerose ohne Sklerodermie |
| es | Esclerosis sistémica limitada | Esclerosis sistémica sin afectación de la piel |
| it | Sclerosi sistemica limitata | Sclerosi sistemica senza sclerodermia |
| nl | Gelimiteerde systemische sclerose | Systemische sclerose zonder sclerodermie |
| pt | Esclerose sistémica limitada | |
| pl | Twardzina układowa ograniczona | Systemic sclerosis sine scleroderma Uogólnione stwardnienie bez twardziny |
| cs | Limitovaná systémová skleróza | Systémová sklerodermie sine sclerodermia |
| uk | Обмежений системний склероз | Системний склероз синусоїдальна склеродермія |
| zh | 局限性系统性硬化病 | 系统性硬化病 |
| tr | Sınırlı sistemik skleroz | Sistemik skleroz sinüs skleroderması |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M34.0 | NTBT | attributed | validated |
| ICD-11 | 4A42.2 | E | specific | validated |
| MONDO | 0016359 | E | validated | |
| UMLS | C0748540 | E | validated | |
| GARD | 9749 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90291Systemic sclerosis
rare cardiac diseases; rare respiratory diseases; rare skin diseases; rare renal diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-DRB1 | Major susceptibility factor in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 23661427[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/220407
- This record as JSON: /data/d/220407.json