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Pendred syndrome
1 OMIM reference -
3 associated genes
11 connected diseases
14 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Athyreosis
EAST syndrome
Thyroid hypoplasia
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
Synonym(s):
- Goiter - deafness
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536648
Gene symbol UniProt reference OMIM reference
FOXI1 Q12951601093
KCNJ10 P78508602208
SLC26A4 O43511605646
Very frequent
- Autosomal recessive inheritance
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals

Frequent
- Goiter
- Hypothyroidy

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Dizziness
- Hyperparathyroidy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Renal disease / nephropathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thyroid neoplasm / tumor / carcinoma / cancer
- Tracheal atresia / stenosis