Keutel Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Keutel Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. less than 30 cases have been reported in the literature. the majority of affected individuals have been diagnosed during childhood. other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. this condition is inherited in an autosomal recessive fashion and is caused by mutations in the mgp gene. last updated: 4/29/2011
MalaCards based summary: Keutel Syndrome, also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome, is related to relapsing polychondritis and cutis laxa, and has symptoms including calcification of cartilage, short distal phalanx of finger and depressed nasal bridge. An important gene associated with Keutel Syndrome is MGP (Matrix Gla Protein). Affiliated tissues include trachea, skin and bone, and related mouse phenotypes are muscle and renal/urinary system.
UniProtKB/Swiss-Prot:67 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
OMIM:49 Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses,... (245150) more...
Wikipedia:68 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...
Diseases related to Keutel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:245150
Clinical features from OMIM:245150
Symptoms:51 (show all 26)
HPO human phenotypes related to Keutel Syndrome:(show all 52)
UMLS symptoms related to Keutel Syndrome:seizures
MalaCards organs/tissues related to Keutel Syndrome:33
Trachea, Skin, Bone, Cerebellum, Spleen, Liver, Pancreas
Articles related to Keutel Syndrome:(show all 25)
Clinvar genetic disease variations for Keutel Syndrome:5
Search GEO for disease gene expression data for Keutel Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet