Familial median cleft of the upper and lower lips

Summary

Familial median cleft of the upper and lower lips (MONDO:0014388) is a disease. A subtype of orofacial cleft — 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]
• ClinVar variants: 1
• Phenotypes (HPO): 10

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		8	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0000161	Median cleft lip	Very frequent (80-99%)
HP:0000204	Cleft upper lip	Very frequent (80-99%)
HP:0000277	Abnormality of the mandible	Very frequent (80-99%)
HP:0000309	Abnormal midface morphology	Very frequent (80-99%)
HP:0000326	Abnormality of the maxilla	Very frequent (80-99%)
HP:0000699	Diastema	Very frequent (80-99%)
HP:0010281	Cleft lower lip	Very frequent (80-99%)
HP:0012292	Fusion of gums	Very frequent (80-99%)
HP:0040079	Irregular dentition	Very frequent (80-99%)
HP:3000010	Abnormality of orbicularis oris muscle	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	familial median cleft of the upper and lower lips
Mondo ID	MONDO:0014388
OMIM	615892
Orphanet	401942
DOID	DOID:0080407
UMLS	C4014596
MedGen	863033
GARD	0017663
Is cancer (heuristic)	no

Also known as: OFC14 · orofacial cleft 14

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of orofacial cleft. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › orofacial cleft › familial median cleft of the upper and lower lips

Related subtypes (15): cleft lip, orofacial cleft 1, cleft lip/palate-ectodermal dysplasia syndrome, orofacial cleft 2, orofacial cleft 4, orofacial cleft 9, orofacial cleft 12, orofacial cleft 13, cleft lip and alveolus, cleft lip/palate, cleft palate, orofacial cleft 8, GRHL3-related orofacial clefting, orofacial cleft 7, ARHGAP29-related non-syndromic orofacial cleft

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3252103	NC_000001.11:g.74782030_75055193del		Pathogenic	no assertion criteria provided

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.