Osteoporosis-oculocutaneous hypopigmentation syndrome

Summary

Osteoporosis-oculocutaneous hypopigmentation syndrome (MONDO:0011020) is a disease. A subtype of musculoskeletal system disorder — 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): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

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

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000479	Abnormal retinal morphology	Very frequent (80-99%)
HP:0000505	Visual impairment	Very frequent (80-99%)
HP:0000545	Myopia	Very frequent (80-99%)
HP:0000639	Nystagmus	Very frequent (80-99%)
HP:0000926	Platyspondyly	Very frequent (80-99%)
HP:0000939	Osteoporosis	Very frequent (80-99%)
HP:0000980	Pallor	Very frequent (80-99%)
HP:0001010	Hypopigmentation of the skin	Very frequent (80-99%)
HP:0001022	Albinism	Very frequent (80-99%)
HP:0002808	Kyphosis	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0005599	Hypopigmentation of hair	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	osteoporosis-oculocutaneous hypopigmentation syndrome
Mondo ID	MONDO:0011020
MeSH	C536062
OMIM	601220
Orphanet	2786
SNOMED CT	722113001
UMLS	C1832592
MedGen	331321
GARD	0000404
Is cancer (heuristic)	no

Also known as: Hernández-Fragoso syndrome · OOCH · OOCH syndrome · OOCHS · osteoporosis and oculocutaneous hypopigmentation syndrome · osteoporosis oculocutaneous hypopigmentation syndrome

Disease family

This is a subtype of musculoskeletal system disorder. 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 › musculoskeletal system disorder › osteoporosis-oculocutaneous hypopigmentation syndrome

Related subtypes (21): autoimmune disorder of musculoskeletal system, musculoskeletal system benign neoplasm, musculoskeletal system cancer, Klippel-Feil syndrome, enthesopathy, muscle tissue disorder, fasciitis, skeletal system disorder, synovial chondromatosis, auriculoosteodysplasia, hypertrophic osteoarthropathy, primary, autosomal dominant, Upington disease, Ramon syndrome, short stature, Brussels type, wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia, CINCA syndrome, chondrodysplasia with joint dislocations, gPAPP type, ligament disorder, synovium disorder, disease of the tendon, Short stature, Dauber-Argente type

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.