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 53
Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome 53
Brachydactyly, Nystagmus and Cerebellar Ataxia 53
Brachydactyly - Nystagmus - Cerebellar Ataxia 53
Biemond's Syndrome 72

Classifications:



External Ids:

UMLS 72 C0344467

Summaries for Biemond 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: 1246DefinitionBrachydactyly-nystagmus-cerebellar ataxia syndrome 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 : 75 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:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 biemond syndrome ii 12.5
2 biemond syndrome type 1 12.2
3 brachydactyly-nystagmus-cerebellar ataxia 11.2
4 aniridia 1 10.1
5 coloboma of macula 10.1
6 short-rib thoracic dysplasia 6 with or without polydactyly 10.1
7 coloboma-obesity-hypogenitalism-mental retardation syndrome 10.1
8 polydactyly 10.1
9 chromosome 16p13.3 deletion syndrome, proximal 10.1
10 aniridia 2 10.1
11 microphthalmia 10.1
12 hydrocephalus 10.1
13 hypogonadism 10.1
14 dysostosis 10.1
15 bardet-biedl syndrome 10.1
16 hypogonadotropism 10.1
17 congenital hydrocephalus 10.1
18 colobomatous microphthalmia 10.1

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

Search Clinical Trials , NIH Clinical Center for Biemond Syndrome

Genetic Tests for Biemond Syndrome

Anatomical Context for Biemond Syndrome

MalaCards organs/tissues related to Biemond Syndrome:

41
Kidney

Publications for Biemond Syndrome

Articles related to Biemond Syndrome:

# Title Authors PMID Year
1
The retinal ciliopathies. 38
17896309 2007
2
[Biemond syndrome]. 38
17022573 2006
3
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 38
15690372 2005
4
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. 38
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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