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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Thoracolumbosacral spina bifida cystica
Isolated growth hormone deficiency type IA

FUZ GH1
MTHFD1
MTHFR
T
VANGL1
VANGL2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MTHFD1
(0.63)
GH1



Citations in the biomedical literature:


Thoracolumbosacral spina bifida cystica
FUZ MTHFD1 MTHFR T VANGL1 VANGL2

Isolated growth hormone deficiency type IA
GH1



Thoracolumbosacral spina bifida cystica
Isolated growth hormone deficiency type IA

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital IGHD type IA
- Congenital isolated GH deficiency type IA
- Congenital isolated growth hormone deficiency type IA

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.