autosomal recessive cutis laxa type 2C
Findings
No curated finding names autosomal recessive cutis laxa type 2C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
Definition from the Mondo Disease Ontology (MONDO:0027462), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
43 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- BlepharophimosisHPOHP:0000581
- 2 of 2 reported patients
- Convex nasal ridgeHPOHP:0000444
- 6 of 6 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Dental crowdingHPOHP:0000678
- 2 of 2 reported patients
- EntropionHPOHP:0000621
- 6 of 6 reported patients
- HypotoniaHPOHP:0001252
Show the remaining 31
- Pointed chinHPOHP:0000307
- 4 of 4 reported patients
- Premature sagging cheeksHPOHP:0034273
- 2 of 2 reported patients
- Prominent superficial veinsHPOHP:0001015
- 2 of 2 reported patients
- Small foreheadHPOHP:0000350
- 6 of 6 reported patients
- StrabismusHPOHP:0000486
- 2 of 2 reported patients
- Triangular faceHPOHP:0000325
- 4 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP6V1E1HGNC:857
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024