MCID: BMN001
MIFTS: 14

Biemond Syndrome

Categories: Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Biemond Syndrome

MalaCards integrated aliases for Biemond Syndrome:

Name: Biemond Syndrome 54
Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome 54
Brachydactyly, Nystagmus and Cerebellar Ataxia 54
Brachydactyly - Nystagmus - Cerebellar Ataxia 54
Biemond's Syndrome 74

Classifications:



External Ids:

UMLS 74 C0344467

Summaries for Biemond Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1246Disease definitionBrachydactyly-nystagmus-cerebellar ataxiasyndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.EpidemiologyIt has been described in four generations of a family.Visit the Orphanet disease page for more resources.

MalaCards based summary : Biemond Syndrome, also known as brachydactyly-nystagmus-cerebellar ataxia syndrome, is related to biemond syndrome ii and biemond syndrome type 1. Affiliated tissues include kidney.

Wikipedia : 77 The Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Related Diseases for Biemond Syndrome

Diseases in the Biemond Syndrome family:

Biemond Syndrome Ii Biemond Syndrome Type 1

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

# Related Disease Score Top Affiliating Genes
1 biemond syndrome ii 12.4
2 biemond syndrome type 1 12.1
3 brachydactyly-nystagmus-cerebellar ataxia 11.4
4 coloboma of macula 10.0
5 hypogonadism 10.0
6 hypogonadotropism 10.0

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



Diseases related to Biemond Syndrome

Symptoms & Phenotypes for Biemond Syndrome

Drugs & Therapeutics for Biemond Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Biemond Syndrome

Genetic Tests for Biemond Syndrome

Anatomical Context for Biemond Syndrome

MalaCards organs/tissues related to Biemond Syndrome:

42
Kidney

Publications for Biemond Syndrome

Articles related to Biemond Syndrome:

# Title Authors Year
1
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. ( 9098485 )
1997

Variations for Biemond Syndrome

Expression for Biemond Syndrome

Search GEO for disease gene expression data for Biemond Syndrome.

Pathways for Biemond Syndrome

GO Terms for Biemond Syndrome

Sources for Biemond Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....