Aliases: MAN1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Buschke-Ollendorff Syndrome | causative germline loss of function |
mechanism: LEMD3 Haploinsufficiency
subtype: Bone-Limited BOS
animal model: Lemd3+/GT heterozygous gene-trap mouse; Man1 Smad-interacting-domain homozygous deletion mouse; XMAN1 gain- and loss-of-function Xenopus embryo
|
| Melorheostosis | disputed germline | |
| Dacryocystitis-Osteopoikilosis Syndrome |
untyped
Causative (inferred)
|
mechanism: LEMD3/MAN1 Loss-of-Function and Dysregulated TGF-beta/BMP Signaling
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.