Myhre Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases
Aliases & Descriptions for Myhre Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Mental diseases
UniProtKB/Swiss-Prot:67 Myhre syndrome: A syndrome characterized by pre- and postnatal growth deficiency, mental retardation, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur.
MalaCards based summary: Myhre Syndrome, also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, is related to van allen myhre syndrome and ruvalcaba churesigaew myhre syndrome, and has symptoms including cognitive impairment, craniofacial hyperostosis and short stature. An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4). Affiliated tissues include heart, bone and skin.
NIH Rare Diseases:45 Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. myhre syndrome is caused by mutations in the smad4 gene. this condition is inherited in an autosomal dominant pattern. most cases are due to a new mutation. last updated: 3/17/2014
Genetics Home Reference:23 Myhre syndrome is a condition with features affecting many systems and functions of the body.
OMIM:49 Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including... (139210) more...
Wikipedia:68 Myhre syndrome is a rare genetic disorder. more...
Diseases related to Myhre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Myhre Syndrome:
Symptoms by clinical synopsis from OMIM:139210
Clinical features from OMIM:139210
Symptoms:51 (show all 35)
HPO human phenotypes related to Myhre Syndrome:(show all 93)
UMLS symptoms related to Myhre Syndrome:observation of narrowing of palpebral fissure, thick skin
MalaCards organs/tissues related to Myhre Syndrome:33
Heart, Bone, Skin, Testes, Eye, Skeletal muscle, Endothelial
Articles related to Myhre Syndrome:(show all 29)
UniProtKB/Swiss-Prot genetic disease variations for Myhre Syndrome:67
Clinvar genetic disease variations for Myhre Syndrome:5
Search GEO for disease gene expression data for Myhre Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet