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Saldino-Mainzer syndrome
2 OMIM references -
2 associated genes
10 connected diseases
No signs/symptoms info
Disease Type of connection
Jeune syndrome
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Pituitary stalk interruption syndrome
Short stature - pituitary and cerebellar defects - small sella turcica
Acute necrotizing encephalopathy of childhood
Cobblestone lissencephaly without muscular or ocular involvement
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Retinitis pigmentosa
Synonym(s):
- Conorenal syndrome
- Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C535463
Gene symbol UniProt reference OMIM reference
IFT140 Q96RY7614620
IFT172 Q9UG01607386
No signs/symptoms info available.