Lethal hydranencephaly-diaphragmatic hernia syndrome

Summary

Lethal hydranencephaly-diaphragmatic hernia syndrome (MONDO:0018810) is a disease. A subtype of hereditary lethal multiple congenital anomalies/dysmorphic syndrome — 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]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	lethal hydranencephaly-diaphragmatic hernia syndrome
Mondo ID	MONDO:0018810
Orphanet	480528
UMLS	C5567527
MedGen	1798950
GARD	0021978
Is cancer (heuristic)	no

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › hereditary lethal multiple congenital anomalies/dysmorphic syndrome › lethal hydranencephaly-diaphragmatic hernia syndrome

Related subtypes (9): Edinburgh malformation syndrome, Thakker-Donnai syndrome, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Stromme syndrome, Bartsocas-Papas syndrome 1, endocrine-cerebro-osteodysplasia syndrome, lethal polymalformative syndrome, Boissel type, Meckel syndrome, microphthalmia microtia fetal akinesia

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.