MCID: CLB011
MIFTS: 20

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 57 53 73
Sorsby Syndrome 57 53 59
Apical Dystrophy 57 53
Coloboma of Macula-Brachydactyly Type B Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
coloboma of macula-brachydactyly type b syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
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: 59  
Rare eye diseases


External Ids:

OMIM 57 120400
Orphanet 59 ORPHA1471
MESH via Orphanet 45 C535969
UMLS via Orphanet 74 C1852752
ICD10 via Orphanet 34 Q87.1
MedGen 42 C1852752
UMLS 73 C1852752

Summaries for Coloboma of Macula with Type B Brachydactyly

NIH Rare Diseases : 53 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 nail disorder, nonsyndromic congenital, 9 and brachydactyly. Affiliated tissues include eye, and related phenotypes are renal agenesis and chorioretinal coloboma

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 microcephaly 9.7

Symptoms & Phenotypes for Coloboma of Macula with Type B Brachydactyly

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
2 chorioretinal coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000567
3 absent fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0001817
4 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
5 type b brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005831
6 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
7 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
8 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
9 fingernail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100798
10 coloboma 32 HP:0000589
11 absent distal phalanges 32 HP:0005807
12 bifid thumb distal phalanx 32 HP:0005848
13 broad distal phalanx of the thumb 32 HP:0009642

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:

41
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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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