MCID: LBN003
MIFTS: 18

Lubinsky Syndrome

Categories: Rare diseases, Reproductive diseases, Nephrological diseases

Aliases & Classifications for Lubinsky Syndrome

MalaCards integrated aliases for Lubinsky Syndrome:

Name: Lubinsky Syndrome 53
Amelogenesis Imperfecta Nephrocalcinosis 73
Cataracts and Testicular Failure 53
Hypogonadism-Cataract Syndrome 73
Hypogonadism Cataract Syndrome 53

Classifications:



External Ids:

Summaries for Lubinsky Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2410Disease definitionThis syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.Genetic counselingAn autosomal recessive mode of transmission appears likely.Visit the Orphanet disease page for more resources.

MalaCards based summary : Lubinsky Syndrome, also known as amelogenesis imperfecta nephrocalcinosis, is related to keppen-lubinsky syndrome and brachycephaly, deafness, cataract, microstomia, and mental retardation, and has symptoms including polyuria An important gene associated with Lubinsky Syndrome is KCNJ6 (Potassium Voltage-Gated Channel Subfamily J Member 6).

Related Diseases for Lubinsky Syndrome

Diseases related to Lubinsky Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 keppen-lubinsky syndrome 31.1 KCNJ6 KCNJ6-AS1 LOC107985507
2 brachycephaly, deafness, cataract, microstomia, and mental retardation 11.9
3 ayme-gripp syndrome 11.4
4 hypogonadism-cataract syndrome 10.9
5 cataract 10.1
6 craniosynostosis 9.8
7 synostosis 9.8
8 polyhydramnios 9.8

Graphical network of the top 20 diseases related to Lubinsky Syndrome:



Diseases related to Lubinsky Syndrome

Symptoms & Phenotypes for Lubinsky Syndrome

UMLS symptoms related to Lubinsky Syndrome:


polyuria

Drugs & Therapeutics for Lubinsky Syndrome

Search Clinical Trials , NIH Clinical Center for Lubinsky Syndrome

Genetic Tests for Lubinsky Syndrome

Anatomical Context for Lubinsky Syndrome

Publications for Lubinsky Syndrome

Articles related to Lubinsky Syndrome:

# Title Authors Year
1
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. ( 25620207 )
2015
2
Fine-Lubinsky syndrome: managing the rare syndromic synostosis. ( 19251507 )
2010
3
Further clinical delineation of Fine-Lubinsky syndrome. ( 19396831 )
2009
4
Keppen-Lubinsky syndrome: Expanding the phenotype. ( 19610118 )
2009
5
Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. ( 18417983 )
2008
6
Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. ( 17394214 )
2007
7
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. ( 12072800 )
2002
8
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. ( 9870488 )
1998
9
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. ( 8867660 )
1996
10
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. ( 3872071 )
1985

Variations for Lubinsky Syndrome

Expression for Lubinsky Syndrome

Search GEO for disease gene expression data for Lubinsky Syndrome.

Pathways for Lubinsky Syndrome

GO Terms for Lubinsky Syndrome

Sources for Lubinsky Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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