Isolated hemihyperplasia

Summary

Isolated hemihyperplasia (MONDO:0009331) is a disease. A subtype of overgrowth syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	5	Worldwide	Validated
Prevalence at birth	1-9 / 100 000	5	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0001528	Hemihypertrophy	Very frequent (80-99%)
HP:0001555	Asymmetry of the thorax	Very frequent (80-99%)
HP:0002650	Scoliosis	Very frequent (80-99%)
HP:0000164	Abnormality of the dentition	Frequent (30-79%)
HP:0000324	Facial asymmetry	Frequent (30-79%)
HP:0001256	Intellectual disability, mild	Frequent (30-79%)
HP:0000023	Inguinal hernia	Occasional (5-29%)
HP:0000028	Cryptorchidism	Occasional (5-29%)
HP:0002475	Myelomeningocele	Occasional (5-29%)
HP:0002667	Nephroblastoma	Occasional (5-29%)
HP:0007328	Impaired pain sensation	Occasional (5-29%)
HP:0030680	Abnormal cardiovascular system morphology	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	isolated hemihyperplasia
Mondo ID	MONDO:0009331
MeSH	C565524
OMIM	235000
Orphanet	2128
UMLS	C1856184
MedGen	383853
GARD	0002630
MedDRA	10019463
Is cancer (heuristic)	no

Also known as: hemi 3 syndrome · Hemicorporal hypertrophy · hemihyperplasia, isolated · hemihypertrophy · IH · isolated hemihypertrophy

Disease family

This is a subtype of overgrowth syndrome. 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 developmental or physiological process › disorder of development or morphogenesis › overgrowth syndrome › isolated hemihyperplasia

Related subtypes (30): Beckwith-Wiedemann syndrome, hemifacial hypertrophy, angioosteohypertrophic syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, hypoinsulinemic hypoglycemia and body hemihypertrophy, Perlman syndrome, Weaver syndrome, Simpson-Golabi-Behmel syndrome, tetrasomy 12p, Marshall-Smith syndrome, hemifacial myohyperplasia, CLAPO syndrome, Maffucci syndrome, Malan overgrowth syndrome, segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, trisomy 5p, hemihyperplasia-multiple lipomatosis syndrome, 11p15.4 microduplication syndrome, 15q overgrowth syndrome, global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, megalencephaly-severe kyphoscoliosis-overgrowth syndrome, congenital isolated hyperinsulinism, 4p16.3 microduplication syndrome, overgrowth syndrome with 2q37 translocation, MTOR-related overgrowth spectrum, AKT3-related overgrowth spectrum, PRC-2 complex-related overgrowth spectrum, PIK3CA-related overgrowth spectrum, PIK3R2-related overgrowth spectrum

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.