coloboma of macula-brachydactyly type B syndrome

Summary

coloboma of macula-brachydactyly type B syndrome (MONDO:0007353) is a disease. A subtype of hereditary macular dystrophy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		10	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0000567	Chorioretinal coloboma	Very frequent (80-99%)
HP:0005831	Type B brachydactyly	Very frequent (80-99%)
HP:0009882	Short distal phalanx of finger	Very frequent (80-99%)
HP:0001817	Absent fingernail	Frequent (30-79%)
HP:0011304	Broad thumb	Frequent (30-79%)
HP:0100490	Camptodactyly of finger	Frequent (30-79%)
HP:0100798	Fingernail dysplasia	Frequent (30-79%)
HP:0000104	Renal agenesis	Occasional (5-29%)
HP:0004322	Short stature	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	coloboma of macula-brachydactyly type B syndrome
Mondo ID	MONDO:0007353
MeSH	C535969
OMIM	120400
Orphanet	1471
SNOMED CT	717785002
UMLS	C1852752
MedGen	343882
GARD	0001437
Is cancer (heuristic)	no

Also known as: Sorsby syndrome

Disease family

This is a subtype of hereditary macular dystrophy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › hereditary macular dystrophy › coloboma of macula-brachydactyly type B syndrome

Related subtypes (16): vitelliform macular dystrophy, cone dystrophy, coloboma of macula, benign concentric annular macular dystrophy, macular dystrophy, fenestrated sheen type, macular coloboma-cleft palate-hallux valgus syndrome, macular corneal dystrophy, EEM syndrome, renal hypomagnesemia 5 with ocular involvement, macular dystrophy, X-linked, AICA-ribosiduria, occult macular dystrophy, familial flecked retinopathy, patterned dystrophy of the retinal pigment epithelium, macular dystrophy, retinal, macular dystrophy with or without cone dysfunction

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.