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Tietz syndrome

1 OMIM reference -
1 associated gene
46 connected diseases
7 signs/symptoms

Disease	Type of connection
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Waardenburg syndrome type 2
Translocation renal cell carcinoma
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Alveolar soft-part sarcoma
Berardinelli-Seip congenital lipodystrophy
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal dominant secondary polycythemia
Cerebellar ataxia - hypogonadism
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
X-linked dominant chondrodysplasia punctata
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Distal 22q11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Agnathia - holoprosencephaly - situs inversus
Alveolar rhabdomyosarcoma
Autosomal dominant nonsyndromic intellectual deficit
Combined pituitary hormone deficiencies, genetic forms
Craniofacial-deafness-hand syndrome
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Isolated anophthalmia - microphthalmia
Pilomatrixoma
Septo-optic dysplasia
Syndromic microphthalmia type 5
Waardenburg syndrome type 1
Waardenburg syndrome type 3

Synonym(s): - Hypopigmentation-deafness syndrome

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (ICD10): (no data available)

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		External references: 1 OMIM reference - 1 MeSH reference: C536919

Gene symbol	UniProt reference	OMIM reference
MITF	O75030	156845

Very frequent

- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / decreased / thin eyebrows
- Anterior chamber anomaly
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Hearing loss / hypoacusia / deafness