CATMANS
MCID: CTL005
MIFTS: 38
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Catel-Manzke Syndrome (CATMANS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Catel-Manzke Syndrome:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
majority of cases are sporadic majority of cases are male Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases Oral diseases
ICD10:
32
Orphanet: 58
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Disease Ontology: 11 A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has material basis in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. MalaCards based summary: Catel-Manzke Syndrome, also known as hyperphalangy-clinodactyly of index finger with pierre robin syndrome, is related to pierre robin syndrome and hyperphalangy, and has symptoms including seizures An important gene associated with Catel-Manzke Syndrome is TGDS (TDP-Glucose 4,6-Dehydratase). Affiliated tissues include bone, tongue and heart, and related phenotypes are failure to thrive and cleft palate OMIM®: 57 Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008). (616145) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). GARD: 19 Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis. Orphanet: 58 Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis. Wikipedia: 75 Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index... more... |
Diseases related to Catel-Manzke Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 19)
Graphical network of the top 20 diseases related to Catel-Manzke Syndrome:![]() |
Human phenotypes related to Catel-Manzke Syndrome:58 30 (show all 49)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:616145 (Updated 08-Dec-2022)UMLS symptoms related to Catel-Manzke Syndrome:seizures |
Cochrane evidence based reviews: catel manzke syndrome |
Organs/tissues related to Catel-Manzke Syndrome:
MalaCards :
Bone,
Tongue,
Heart
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Articles related to Catel-Manzke Syndrome:(show all 32)
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ClinVar genetic disease variations for Catel-Manzke Syndrome:5
UniProtKB/Swiss-Prot genetic disease variations for Catel-Manzke Syndrome:73
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Search
GEO
for disease gene expression data for Catel-Manzke Syndrome.
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