Limb-Mammary Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Bone diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Limb-Mammary Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
Inheritance: autosomal dominant inheritance
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
Wikipedia:70 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 cleft palate, bifid uvula and lacrimal duct atresia. An important gene associated with Limb-Mammary Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include skin, bone and eye.
UniProtKB/Swiss-Prot:69 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.
Description from OMIM:51 603543
Diseases related to Limb-Mammary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Limb-Mammary Syndrome:
Human phenotypes related to Limb-Mammary Syndrome:63 (show all 13)
MalaCards organs/tissues related to Limb-Mammary Syndrome:35
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.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet