MCID: BRK005
MIFTS: 9

Berk-Tabatznik Syndrome

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Berk-Tabatznik Syndrome

MalaCards integrated aliases for Berk-Tabatznik Syndrome:

Name: Berk-Tabatznik Syndrome 53 73
Short Stature, Congenital Optic Atrophy, and Hypoplasia of the Cervical Vertebral Bodies and Distal Phalanges 53
Cleft Nare, Brachydactyly, Short Stature Dwarfism 53
Congenital Optic Atrophy and Brachytelephalangy 53
Kyphosis Brachyphalangy Optic Atrophy 53

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 73 C2930899

Summaries for Berk-Tabatznik Syndrome

MalaCards based summary : Berk-Tabatznik Syndrome, also known as short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges, is related to tabatznik syndrome and 3-methylglutaconic aciduria, type iii.

Wikipedia : 76 Berk–Tabatznik syndrome is a medical condition with an unknown cause that shows symptoms of short... more...

Related Diseases for Berk-Tabatznik Syndrome

Diseases related to Berk-Tabatznik Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tabatznik syndrome 10.2
2 3-methylglutaconic aciduria, type iii 10.2

Symptoms & Phenotypes for Berk-Tabatznik Syndrome

Drugs & Therapeutics for Berk-Tabatznik Syndrome

Search Clinical Trials , NIH Clinical Center for Berk-Tabatznik Syndrome

Genetic Tests for Berk-Tabatznik Syndrome

Anatomical Context for Berk-Tabatznik Syndrome

Publications for Berk-Tabatznik Syndrome

Articles related to Berk-Tabatznik Syndrome:

# Title Authors Year
1
Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome. ( 3128111 )
1988

Variations for Berk-Tabatznik Syndrome

Expression for Berk-Tabatznik Syndrome

Search GEO for disease gene expression data for Berk-Tabatznik Syndrome.

Pathways for Berk-Tabatznik Syndrome

GO Terms for Berk-Tabatznik Syndrome

Sources for Berk-Tabatznik 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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