ORPHA:2698
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Synonyms: Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome · Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome · Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome · Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome · Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome |
| fr | Syndrome de nodosités calleuses-leuconychie-surdité-hyperkératose palmoplantaire | Syndrome de Bart-Pumphrey · Syndrome de nodosités calleuses-leuconychie-surdité-kératodermie palmoplantaire |
| de | Knuckle-Pads-Leukonychie-sensorineurale Schwerhörigkeit-palmoplantare Hyperkeratose-Syndrom | Bart-Pumphrey-Syndrom |
| es | Síndrome de almohadillas de nudillo-leuconiquia-sordera neurosensorial-hiperqueratosis palmoplantar | Síndrome de Bart-Pumphrey · Síndrome de nódulos callosos-leuconiquia-hipoacusia neurosensorial-hiperqueratosis palmoplantar · Síndrome de nódulos callosos-leuconiquia-hipoacusia neurosensorial-queratodermia palmoplantar · Síndrome de nódulos callosos-leuconiquia-sordera neurosensorial-queratodermia palmoplantar |
| it | Sindrome da nocche imbottite, leuconichia, sordità neurosensoriale, ipercheratosi palmoplantare | Sindrome di Bart-Pumphrey · Sindrome nodosità callose-leuconichia-sordità neurosensoriale-cheratoderma palmoplantare |
| nl | Knokkelkussens - leukonychie - sensorineurale doofheid - palmoplantaire hyperkeratose-syndroom | Knokkelkussens - leukonychie - sensorineurale doofheid - keratodermie van handpalm of voetzool-syndroom · Knokkelkussens - leukonychie - sensorineurale doofheid - palmoplantaire keratodermie-syndroom · Syndroom van Bart-Pumphrey |
| pt | Síndrome de "knuckle pads"-leuconiquia-surdez neurossensorial-hiperqueratose palmoplantar | Síndrome Bart-Pumphrey · Síndrome de "knuckle pads"-leuconiquia-perda auditiva neurossensorial-hiperqueratose palmoplantar · Síndrome de "knuckle pads"-leuconiquia-perda auditiva neurossensorial-queratoderma palmoplantar · Síndrome de "knuckle pads"-leuconiquia-surdez neurossensorial-queratoderma palmoplantar |
| pl | Zespół poduszeczki kłykciowe-leukonychia-głuchota czuciowo-nerwowa-rogowiec dłoni i stóp | Zespół Barta i Pumphrey'a · Zespół knuckle pads-leukonychia-głuchota czuciowo-nerwowa-hiperkeratoza dłoni i stóp |
| cs | Syndrom zahrnující kloubní uzlíky, leukonychii, senzorickou hluchotu a palmoplantární hyperkeratózu | Syndrom zahrnující kloubní uzlíky, leukonychii, senzorickou hluchotu a palmoplantární keratoderma · Bartův-Pumphreyův syndrom · Bart-Pumphreyův syndrom |
| uk | Синдром суглобових подушечок - лейконіхії - сенсоневральної глухоти - долонно-підошовного гіперкератозу | Синдром Барта-Памфрі · Синдром суглобових подушечок - лейконіхії - сенсоневральної глухоти - долонно-підошовної кератодермії · Синдром суглобових подушечок - лейконіхії - сенсоневральної приглухуватості - долонно-підошовного гіперкератозу · Синдром суглобових подушечок - лейконіхії -сенсоневральної приглухуватості - долонно-підошовної кератодермії |
| zh | 指节垫-白甲病-感音神经性耳聋-掌跖角化病综合征 | Bart-Pumphrey综合征 |
| tr | Knuckle pads-leukonychia-sensorinöral sağırlık-palmoplantar hiperkeratoz sendromu | Eklem yastıkları-lökoniki-sensorinöral sağırlık-palmoplantar keratoderma sendromu · Eklem yastıkları-lökoniki-sensorinöral işitme kaybı-palmoplantar keratoderma sendromu · Eklem yastıkları-lökoniki-sensorinöral işitme kaybı-palmoplantar hiperkeratoz sendromu · Bart-Pumphrey sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 149200 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007866 | E | validated | |
| MeSH | C537210 | E | validated | |
| UMLS | C0266004 | E | validated | |
| GARD | 3125 | 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 (2):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4284 | ENSG00000165474 | 121011 | 13q12.11 | gap junction protein beta 2 | 22421650[PMID]_15952212[PMID]_15482471[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22421650[PMID] |
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
7 annotations · validated 2021-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0032541 | Knuckle pad | |
| HP:0001820 | Leukonychia | |
| Frequent (79-30%) | ||
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| Occasional (29-5%) | ||
| HP:0045059 | Hyperkeratotic papule | |
| HP:0000410 | Mixed hearing impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22421650[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2698
- This record as JSON: /data/d/2698.json