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 IIC
Summary
- 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.
- Super Class
- autosomal recessive cutis laxa type II classic type
External Links
- Disease Ontology
- DOID:0070140
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36543 | V-type proton ATPase subunit E 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005272 | Prominent nasolabial fold |
| HP:0005989 | Redundant neck skin |
| HP:0006891 | Thick cerebral cortex |
| HP:0007392 | Excessive wrinkled skin |
| HP:0007457 | Prominent veins on trunk |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution |
| HP:0008070 | Sparse hair |
| HP:0008897 | Postnatal growth retardation |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009125 | Lipodystrophy |
