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Waardenburg syndrome type 2
5 OMIM references -
3 associated genes
77 connected diseases
13 signs/symptoms
Disease Type of connection
Clear cell renal carcinoma
Kallmann syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Neurologic Waardenburg-Shah syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Waardenburg-Shah syndrome
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
Translocation renal cell carcinoma
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Autosomal dominant secondary polycythemia
Cerebellar ataxia - hypogonadism
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Agnathia - holoprosencephaly - situs inversus
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
Alveolar soft-part sarcoma
Berardinelli-Seip congenital lipodystrophy
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive primary microcephaly
Split hand - split foot - deafness
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Dedifferentiated liposarcoma
Essential thrombocythemia
Familial pancreatic carcinoma
Frontonasal dysplasia with alopecia and genital anomaly
Giant cell glioblastoma
Isolated Klippel-Feil syndrome
Isolated scaphocephaly
Li-Fraumeni syndrome
Papilloma of choroid plexus
Parietal foramina
Potocki-Shaffer syndrome
Precursor B-cell acute lymphoblastic leukemia
Well-differentiated liposarcoma
X-linked dominant chondrodysplasia punctata
Distal 22q11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Autosomal dominant nonsyndromic intellectual deficit
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Combined pituitary hormone deficiencies, genetic forms
Dejerine-Sottas syndrome
Desmoid tumor
Extraskeletal myxoid chondrosarcoma
Hepatocellular carcinoma, childhood-onset
Inherited acute myeloid leukemia
Isolated anophthalmia - microphthalmia
Isolated brachycephaly
Isolated plagiocephaly
Septo-optic dysplasia
Syndromic microphthalmia type 5
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
1 MeSH reference: C536463

Gene symbol UniProt reference OMIM reference
MITF O75030156845
SNAI2 O43623602150
SOX10 P56693602229
Very frequent
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Premature greying of hair
- Sensorineural deafness / hearing loss

- Irregular / patchy skin hypopigmentation
- White forelock / piebaldism

- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Renal / kidney anomalies
- Telecanthus / canthal dystopy