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: inherited renal tubular disease (MONDO:0015962)
Parent Node: rare renal tubular disease (MONDO:0019744)
..Starting node ..Senior-Boichis syndrome ()
Child Nodes:
........nephronophthisis 11 ()
Sister Nodes:
..Alstrom syndrome ()
..cranioectodermal dysplasia ()
..cystinuria (disease) ()
..dominant hypophosphatemia with nephrolithiasis or osteoporosis ()
..EAST syndrome ()
..familial juvenile hyperuricemic nephropathy type 2 ()
..familial primary hypomagnesemia ()
..hereditary renal hypouricemia ()
..hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ()
..hypotonia-cystinuria syndrome type 1 ()
..idiopathic inherited hypercalciuria ()
..IgG4-related kidney disease ()
..Jeune syndrome ()
..mitochondrial DNA depletion syndrome, hepatocerebrorenal form ()
..nephrogenic diabetes insipidus ()
..nephrogenic diabetes insipidus-intracranial calcification syndrome ()
..nephrogenic syndrome of inappropriate antidiuresis ()
..nephronophthisis (disease) ()
..oculocerebrorenal syndrome ()
..primary renal tubular acidosis ()
..pseudohypoparathyroidism ()
..psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ()
..renal tubular transport disease ()
..RHYNS syndrome ()
..Senior-Boichis syndrome ()
..Senior-Loken syndrome ()
..tubulointerstitial nephritis and uveitis syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19394
Name:	Senior-Boichis syndrome
Definition:	Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Boichis disease; nephronophthisis-hepatic fibrosis syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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