MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: familial primary hypomagnesemia (MONDO:0018100)
..Starting node ..familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis ()
Child Nodes:
........renal hypomagnesemia 3 ()
........renal hypomagnesemia 5 with ocular involvement ()
Sister Nodes:
..familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis ()
..familial primary hypomagnesemia with hypocalcuria ()
..familial primary hypomagnesemia with normocalcuria ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17624
Name:	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Definition:	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).
Alternative IDs:
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TreeNumbers:
Synonyms:	FHHNC; Michellis-Castrillo syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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