Coloboma of macula - brachydactyly type B

General Information (adopted from Orphanet):

Synonyms, Signs: APICAL DYSTROPHY
sorsby syndrome
Number of Symptoms 18
OrphanetNr: 1471
OMIM Id: 120400
ICD-10: Q87.1
UMLs: C1852752
MeSH: C535969
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Colobomatous and areolar dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
2
 (HPO:0000104) Renal agenesis 68 / 7739
3
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
4
 (HPO:0000589) Coloboma 47 / 7739
5
 (HPO:0005848) Bifid thumb distal phalanx 1 / 7739
6
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
7
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
8
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
9
 (HPO:0005831) Type B brachydactyly 3 / 7739
10
 (HPO:0009642) Broad distal phalanx of the thumb 4 / 7739
11
 (HPO:0005807) Absent distal phalanges 4 / 7739
12
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
13
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
14
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
15
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
16
 (OMIM) Broad or bifid thumb distal phalanx 1 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Coloboma of macula 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: