MCID: CLB011
MIFTS: 18

Coloboma of Macula with Type B Brachydactyly

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Coloboma of Macula with Type B Brachydactyly

MalaCards integrated aliases for Coloboma of Macula with Type B Brachydactyly:

Name: Coloboma of Macula with Type B Brachydactyly 54 50 69
Sorsby Syndrome 50 56
Coloboma of Macula-Brachydactyly Type B Syndrome 56
Apical Dystrophy 50

Characteristics:

Orphanet epidemiological data:

56
coloboma of macula-brachydactyly type b syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
coloboma of macula with type b brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 120400
Orphanet 56 ORPHA1471
MESH via Orphanet 43 C535969
UMLS via Orphanet 70 C1852752
ICD10 via Orphanet 34 Q87.1

Summaries for Coloboma of Macula with Type B Brachydactyly

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1471disease definitioncoloboma of macula - brachydactyly type b or sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type b (see these terms). the hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. coloboma of macula - brachydactyly type b is inherited in a dominant manner.visit the orphanet disease page for more resources. last updated: 11/12/2014

MalaCards based summary : Coloboma of Macula with Type B Brachydactyly, also known as sorsby syndrome, is related to pseudoinflammatory fundus dystrophy and brachydactyly, and has symptoms including short stature, renal agenesis and chorioretinal coloboma. Affiliated tissues include eye.

Description from OMIM: 120400

Related Diseases for Coloboma of Macula with Type B Brachydactyly

Diseases related to Coloboma of Macula with Type B Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pseudoinflammatory fundus dystrophy 10.8
2 brachydactyly 9.7
3 brachymorphism-onychodysplasia-dysphalangism syndrome 9.6
4 microcephaly 9.6
5 coloboma 9.6

Graphical network of the top 20 diseases related to Coloboma of Macula with Type B Brachydactyly:



Diseases related to Coloboma of Macula with Type B Brachydactyly

Symptoms & Phenotypes for Coloboma of Macula with Type B Brachydactyly

Symptoms via clinical synopsis from OMIM:

54

GU:
renal agenesis

Limbs:
type b brachydactyly
absent distal phalanx
broad or bifid thumb distal phalanx

Eyes:
coloboma of macula


Clinical features from OMIM:

120400

Human phenotypes related to Coloboma of Macula with Type B Brachydactyly:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 renal agenesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000104
3 chorioretinal coloboma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000567
4 broad thumb 56 32 frequent (33%) Frequent (79-30%) HP:0011304
5 type b brachydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0005831
6 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
7 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
8 fingernail dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0100798
9 absent fingernail 56 32 frequent (33%) Frequent (79-30%) HP:0001817
10 coloboma 32 HP:0000589
11 absent distal phalanges 32 HP:0005807
12 broad distal phalanx of the thumb 32 HP:0009642
13 bifid thumb distal phalanx 32 HP:0005848

Drugs & Therapeutics for Coloboma of Macula with Type B Brachydactyly

Search Clinical Trials , NIH Clinical Center for Coloboma of Macula with Type B Brachydactyly

Genetic Tests for Coloboma of Macula with Type B Brachydactyly

Anatomical Context for Coloboma of Macula with Type B Brachydactyly

MalaCards organs/tissues related to Coloboma of Macula with Type B Brachydactyly:

39
Eye

Publications for Coloboma of Macula with Type B Brachydactyly

Variations for Coloboma of Macula with Type B Brachydactyly

Expression for Coloboma of Macula with Type B Brachydactyly

Search GEO for disease gene expression data for Coloboma of Macula with Type B Brachydactyly.

Pathways for Coloboma of Macula with Type B Brachydactyly

GO Terms for Coloboma of Macula with Type B Brachydactyly

Sources for Coloboma of Macula with Type B Brachydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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