Meckel syndrome, type 6
MONDO:0012848Mondo
Findings
No curated finding names Meckel syndrome, type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
Definition from the Mondo Disease Ontology (MONDO:0012848), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cystic liver diseaseHPOHP:0006706
- 7 of 7 reported patients · Congenital onset
- Hepatic cystsHPOHP:0001407
- 7 of 7 reported patients
- Hepatic fibrosisHPOHP:0001395
- 7 of 7 reported patients
- Occipital encephaloceleHPOHP:0002085
- 11 of 11 reported patients · Congenital onset
- Postaxial foot polydactylyHPOHP:0001830
- 10 of 10 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 6 of 6 reported patients
- Renal cyst
Show the remaining 5
- Absent gallbladderHPOHP:0011467
- 1 of 11 reported patients
- Aplasia of the bladderHPOHP:0010477
- 1 of 11 reported patients
- Bilobed right lungHPOHP:0033183
- 1 of 11 reported patients
- Horseshoe kidneyHPOHP:0000085
- 1 of 11 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 11 reported patients
Where it sits
Other names
3 names
Resolves to: Meckel syndrome, type 6
- Also called
- CC2D2A Meckel syndromeMeckel syndrome caused by mutation in CC2D2AMKS6