Limb-Mammary Syndrome malady
Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Bone diseases, Skin diseases, Fetal diseases categories
Aliases & Descriptions for Limb-Mammary Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Reproductive diseases, Bone diseases, Skin diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Wikipedia:68 Limb–mammary syndrome is a cutaneous condition characterized by p63 mutations. more...
MalaCards based summary: Limb-Mammary Syndrome, also known as lms, is related to leiomyosarcoma and lateral meningocele syndrome, and has symptoms including autosomal dominant inheritance, cleft palate and bifid uvula. An important gene associated with Limb-Mammary Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include skin, bone and eye.
UniProtKB/Swiss-Prot:67 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.
Description from OMIM:49 603543
HPO human phenotypes related to Limb-Mammary Syndrome:(show all 14)
MalaCards organs/tissues related to Limb-Mammary Syndrome:33
Skin, Bone, Eye
Articles related to Limb-Mammary Syndrome:
Clinvar genetic disease variations for Limb-Mammary Syndrome:5
Search GEO for disease gene expression data for Limb-Mammary Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet