MCID: CLB011
MIFTS: 21

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 53 49 69
Sorsby Syndrome 53 49 55
Apical Dystrophy 53 49
Coloboma of Macula-Brachydactyly Type B Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
coloboma of macula-brachydactyly type b syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
coloboma of macula with type b brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 120400
Orphanet 55 ORPHA1471
MESH via Orphanet 42 C535969
UMLS via Orphanet 70 C1852752
ICD10 via Orphanet 33 Q87.1
MedGen 39 C1852752
UMLS 69 C1852752

Summaries for Coloboma of Macula with Type B Brachydactyly

NIH Rare Diseases : 49 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 nail disorder, nonsyndromic congenital, 9 and brachydactyly, and has symptoms including short stature, broad thumb 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:

# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 9 9.8
2 brachydactyly 9.8
3 brachymorphism-onychodysplasia-dysphalangism syndrome 9.7
4 coloboma of macula 9.7
5 ayme-gripp syndrome 9.7
6 microcephaly 9.7

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:

53
GU:
renal agenesis

Eyes:
coloboma of macula

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


Clinical features from OMIM:

120400

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

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
2 broad thumb 55 31 frequent (33%) Frequent (79-30%) HP:0011304
3 chorioretinal coloboma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000567
4 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
5 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
6 fingernail dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0100798
7 renal agenesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000104
8 absent fingernail 55 31 frequent (33%) Frequent (79-30%) HP:0001817
9 type b brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0005831
10 coloboma 31 HP:0000589
11 absent distal phalanges 31 HP:0005807
12 broad distal phalanx of the thumb 31 HP:0009642
13 bifid thumb distal phalanx 31 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:

38
Eye

Publications for Coloboma of Macula with Type B Brachydactyly

Articles related to Coloboma of Macula with Type B Brachydactyly:

# Title Authors Year
1
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. ( 12919145 )
2003

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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