autosomal recessive cutis laxa type 2D
Findings
No curated finding names autosomal recessive cutis laxa type 2D 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 and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Definition from the Mondo Disease Ontology (MONDO:0027451), 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.
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Cutis laxaHPOHP:0000973
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- GliosisHPOHP:0002171
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
Show the remaining 31
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- EntropionHPOHP:0000621
- 2 of 3 reported patients
- Hip dislocationHPOHP:0002827
- 2 of 3 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- Low-set earsHPOHP:0000369
- 2 of 3 reported patients
- Mask-like faciesHPOHP:0000298
- 2 of 3 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.
- ATP6V1AHGNC:851
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: autosomal recessive cutis laxa type 2D
- Also called
- ARCL2D