Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
autosomal recessive cutis laxa type IID
Summary
- Synonym
-
- ARCL2D
- Definition
- An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
- Super Class
- autosomal recessive cutis laxa type II classic type
External Links
- Disease Ontology
- DOID:0070129
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P38606 | V-type proton ATPase catalytic subunit A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000023 | Inguinal hernia |
| HP:0000218 | High palate |
| HP:0000253 | Progressive microcephaly |
| HP:0000272 | Malar flattening |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000369 | Low-set ears |
| HP:0000455 | Broad nasal tip |
| HP:0000463 | Anteverted nares |
