MCID: BRC098
MIFTS: 21

Brachydactyly-Nystagmus-Cerebellar Ataxia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Brachydactyly-Nystagmus-Cerebellar Ataxia

MalaCards integrated aliases for Brachydactyly-Nystagmus-Cerebellar Ataxia:

Name: Brachydactyly-Nystagmus-Cerebellar Ataxia 56 71
Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome 52 58
Biemond Syndrome 52 58
Brachydactyly, Nystagmus and Cerebellar Ataxia 52
Brachydactyly - Nystagmus - Cerebellar Ataxia 52
Biemond's Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
brachydactyly-nystagmus-cerebellar ataxia syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
brachydactyly-nystagmus-cerebellar ataxia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 113400
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1862099
Orphanet 58 ORPHA1246
MedGen 41 C1862099
UMLS 71 C0344467 C1862099

Summaries for Brachydactyly-Nystagmus-Cerebellar Ataxia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1246 Definition Brachydactyly -nystagmus -cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients. Epidemiology It has been described in four generations of a family. Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachydactyly-Nystagmus-Cerebellar Ataxia, also known as brachydactyly-nystagmus-cerebellar ataxia syndrome, is related to biemond syndrome ii and biemond syndrome type 1, and has symptoms including cerebellar ataxia Affiliated tissues include eye, and related phenotypes are intellectual disability and ataxia

More information from OMIM: 113400

Related Diseases for Brachydactyly-Nystagmus-Cerebellar Ataxia

Diseases related to Brachydactyly-Nystagmus-Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 biemond syndrome ii 12.5
2 biemond syndrome type 1 12.2
3 aniridia 1 10.1
4 coloboma of macula 10.1
5 short-rib thoracic dysplasia 6 with or without polydactyly 10.1
6 otopalatodigital syndrome, type i 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 colobomatous microphthalmia 10.1

Graphical network of the top 20 diseases related to Brachydactyly-Nystagmus-Cerebellar Ataxia:



Diseases related to Brachydactyly-Nystagmus-Cerebellar Ataxia

Symptoms & Phenotypes for Brachydactyly-Nystagmus-Cerebellar Ataxia

Human phenotypes related to Brachydactyly-Nystagmus-Cerebellar Ataxia:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ataxia 31 HP:0001251
3 nystagmus 31 HP:0000639
4 strabismus 31 HP:0000486
5 brachydactyly 31 HP:0001156
6 short metacarpal 31 HP:0010049
7 short metatarsal 31 HP:0010743

Symptoms via clinical synopsis from OMIM:

56
Eyes:
nystagmus
strabismus

Limbs:
brachydactyly (one short metacarpal and metatarsal)

Neuro:
cerebellar ataxia
mental deficiency

Clinical features from OMIM:

113400

UMLS symptoms related to Brachydactyly-Nystagmus-Cerebellar Ataxia:


cerebellar ataxia

Drugs & Therapeutics for Brachydactyly-Nystagmus-Cerebellar Ataxia

Search Clinical Trials , NIH Clinical Center for Brachydactyly-Nystagmus-Cerebellar Ataxia

Genetic Tests for Brachydactyly-Nystagmus-Cerebellar Ataxia

Anatomical Context for Brachydactyly-Nystagmus-Cerebellar Ataxia

MalaCards organs/tissues related to Brachydactyly-Nystagmus-Cerebellar Ataxia:

40
Eye

Publications for Brachydactyly-Nystagmus-Cerebellar Ataxia

Articles related to Brachydactyly-Nystagmus-Cerebellar Ataxia:

# Title Authors PMID Year
1
The retinal ciliopathies. 61
17896309 2007
2
[Biemond syndrome]. 61
17022573 2006
3
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 61
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. 61
9098485 1997

Variations for Brachydactyly-Nystagmus-Cerebellar Ataxia

Expression for Brachydactyly-Nystagmus-Cerebellar Ataxia

Search GEO for disease gene expression data for Brachydactyly-Nystagmus-Cerebellar Ataxia.

Pathways for Brachydactyly-Nystagmus-Cerebellar Ataxia

GO Terms for Brachydactyly-Nystagmus-Cerebellar Ataxia

Sources for Brachydactyly-Nystagmus-Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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