ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Autosomal dominant primary hypomagnesemia with hypocalciuria

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

FXYD2	(UniProt - OMIM)		CREBBP	(UniProt - OMIM)
HNF1B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HNF1B	(0.55)	CREBBP

Citations in the biomedical literature:

Autosomal dominant primary hypomagnesemia with hypocalciuria		Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
	Synonym(s): - HOMG2 - Isolated autosomal dominant hypomagnesemia - Isolated renal magnesium wasting - Renal hypomagnesemia type 2		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

No signs/symptoms info available.