ORPHA:2908
Kindler epidermolysis bullosa
Synonyms: Congenital bullous poikiloderma · Kindler syndrome · Poikiloderma of Kindler
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kindler epidermolysis bullosa | Congenital bullous poikiloderma · Kindler syndrome · Poikiloderma of Kindler |
| fr | Epidermolyse bulleuse de Kindler | Poïkilodermie bulleuse congénitale · Poïkilodermie de Kindler · Syndrome de Kindler |
| de | Kindler Epidermolysis bullosa | Kindler EB · Kindler-Syndrom · Kongenitale bullöse Poikilodermie · Poikilodermie Typ Kindler |
| es | Epidermolisis ampollosa de Kindler | Epidermolisis bullosa de Kindler · Poiquilodermia ampollosa congénita · Poiquilodermia de Kindler · Síndrome de Kindler |
| it | Epidermolisi bollosa di Kindler | KS · Poichilodermia bollosa congenita · Poichilodermia di Kindler · Sindrome di Kindler |
| nl | Epidermolysis bullosa van Kindler | Congenitale bulleuze poikilodermie · Poikilodermie van Kindler · Syndroom van Kindler |
| pt | Epidermólise bolhosa Kindler | Poiquilodermia bolhosa congénita |
| pl | Pęcherzowe oddzielanie się naskórka, zespół Kindlera | Poikilodermia Kindlera |
| cs | Kindlerové syndrom | KS · Kindlerové poikilodermie |
| uk | Бульозний епідермоліз Кіндлер | Вроджена бульозний пухирчастий лишай · Синдром Кіндлера · Пойкилодермія Кіндлера |
| zh | 金德勒综合征 | 先天性大疱皮肤异色病 |
| tr | Kindler sendromu | Kindler'in Poikiloderması · Doğumsal büllöz poikiloderma |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173650 | E | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0008260 | E | validated | |
| MeSH | C536321 | E | validated | |
| UMLS | C0406557 | E | validated | |
| GARD | 4391 | 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 (4):
- ORPHA:183490Genetic photodermatosis
rare genetic diseases - ORPHA:79361Inherited epidermolysis bullosa
rare genetic diseases; rare skin diseases - ORPHA:79390Rare photodermatosis
rare skin diseases - ORPHA:717868Rare skin disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FERMT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15889 | ENSG00000101311 | 607900 | 20p12.3 | FERM domain containing kindlin 1 | 22466645[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | 26937547[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | 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
41 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0100825 | Cheilitis | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0010783 | Erythema | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001029 | Poikiloderma | |
| Frequent (79-30%) | ||
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000670 | Carious teeth | |
| HP:0002583 | Colitis | |
| HP:0002015 | Dysphagia | |
| HP:0002043 | Esophageal stricture | |
| HP:0100633 | Esophagitis | |
| HP:0006101 | Finger syndactyly | |
| HP:0000230 | Gingivitis | |
| HP:0000704 | Periodontitis | |
| HP:0001741 | Phimosis | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0001581 | Recurrent skin infections | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0004378 | Abnormality of the anus | |
| HP:0001903 | Anemia | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000509 | Conjunctivitis | |
| HP:0007957 | Corneal opacity | |
| HP:0000656 | Ectropion | |
| HP:0001371 | Flexion contracture | |
| HP:0000962 | Hyperkeratosis | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0001056 | Milia | |
| HP:0100517 | Neoplasm of the urethra | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0000262 | Turricephaly | |
| HP:0012227 | Urethral stricture | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2908
- This record as JSON: /data/d/2908.json