MCID: CLB011
MIFTS: 20

Coloboma of Macula with Type B Brachydactyly

Categories: Eye diseases, Fetal diseases, Rare 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 58 54 74
Sorsby Syndrome 58 54 60
Apical Dystrophy 58 54
Coloboma of Macula-Brachydactyly Type B Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
coloboma of macula-brachydactyly type b syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
coloboma of macula with type b brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 120400
MESH via Orphanet 46 C535969
ICD10 via Orphanet 35 Q87.1
UMLS via Orphanet 75 C1852752
Orphanet 60 ORPHA1471
MedGen 43 C1852752
UMLS 74 C1852752

Summaries for Coloboma of Macula with Type B Brachydactyly

NIH Rare Diseases : 54 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.

MalaCards based summary : Coloboma of Macula with Type B Brachydactyly, also known as sorsby syndrome, is related to brachydactyly, type b1 and nail disorder, nonsyndromic congenital, 9. Affiliated tissues include eye, and related phenotypes are chorioretinal coloboma and short distal phalanx of finger

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 brachydactyly, type b1 10.0
2 nail disorder, nonsyndromic congenital, 9 10.0
3 brachydactyly 10.0
4 brachymorphism-onychodysplasia-dysphalangism syndrome 9.8
5 coloboma of macula 9.8
6 microcephaly 9.8

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

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

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorioretinal coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000567
2 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
3 type b brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0005831
4 broad thumb 60 33 frequent (33%) Frequent (79-30%) HP:0011304
5 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
6 fingernail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100798
7 absent fingernail 60 33 frequent (33%) Frequent (79-30%) HP:0001817
8 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
9 renal agenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000104
10 coloboma 33 HP:0000589
11 absent distal phalanges 33 HP:0005807
12 broad distal phalanx of the thumb 33 HP:0009642
13 bifid thumb distal phalanx 33 HP:0005848

Symptoms via clinical synopsis from OMIM:

58
G U:
renal agenesis

Eyes:
coloboma of macula

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

Clinical features from OMIM:

120400

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:

42
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
2
Sorsby syndrome: a report on further generations of the original family. ( 3385739 )
1988

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
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
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