ORPHA:42665
Tietz syndrome
Synonyms: Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tietz syndrome | Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome |
| fr | Syndrome de Tietz | Syndrome d'hypopigmentation-surdité |
| de | Tietz-Syndrom | |
| es | Síndrome de Tietz | Síndrome de hipopigmentación-hipoacusia · Síndrome de hipopigmentación-sordera |
| it | Sindrome di Tietz | Sindrome ipopigmentazione-sordità |
| nl | Syndroom van Tietz | Hypopigmentatie - doofheid-syndroom · Hypopigmentatie - gehoorverlies-syndroom |
| pt | Síndrome Tietz | Síndrome hipopigmentação-perda auditiva · Síndrome hipopigmentação-surdez |
| pl | Zespół Tietza | Zespół hipopigmentacja-głuchota |
| cs | Tietzův syndrom zahrnující albinismus a hluchotu | Syndrom zahrnující hypopigmentaci a hluchotu · TADS |
| uk | Синдром Тітца | Синдром гіпопігментації-глухоти · Синдром гіпопігментації-туговухості |
| zh | Tietz综合征 | 色素沉着-听力丧失综合征 |
| tr | Tietz sendromu | Hipopigmentasyon-sağırlık sendromu · Hipopigmentasyon-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103500 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.2Y | NTBT | index | validated |
| MONDO | 0007077 | E | validated | |
| MeSH | C536919 | E | validated | |
| UMLS | C0391816 | E | validated | |
| GARD | 7772 | 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 (3):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
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 |
|---|---|---|---|---|---|---|---|---|
| MITF | Disease-causing germline mutation(s) in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 10851256[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 23020089[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23020089[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
6 annotations · validated 2018-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000365 | Hearing impairment | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002226 | White eyebrow | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/42665
- This record as JSON: /data/d/42665.json