Cutis laxa, autosomal recessive, 3a

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Subtype of: Cutis laxa
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Cutis laxa, autosomal recessive, 3A
MONDO_0009053
ALDH18A1 Unknown
22170564 24767728 18478038 11092761 14702039 15489334
Open Targets
Cutis laxa, autosomal recessive, type IIIA
MONDO_0009053
ALDH18A1 Unknown
29903433 26320891 11092761 27604308 22170564 24816252 24767728 24913064 18478038 21739576 26297558 26026163 18388779
Open Targets
Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency)
MONDO_0009053
ALDH18A1 Unknown
24767728 11092761
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Cutis laxa, autosomal recessive, 3a.
5 View disease cluster →
De barsy syndrome 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. P5CS deficiency 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. Developmental disorder-joint hypermobility-skin laxity with or without metabolic abnormalities 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. Cutis laxa, corneal clouding, and mental retardation 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. Cutis laxa, autosomal dominant 3 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1.