Catel-Manzke Syndrome (CATMANS)

Alias:
Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome
Micrognathia Digital Syndrome
Palatodigital Syndrome, Catel-Manzke Type
Catel Manzke Syndrome
Pierre Robin Syndrome with Hyperphalangy and Clinodactyly
Pierre Robin Sequence-Hyperphalangy-Clinodactyly Syndrome
Pierre Robin Syndrome-Hyperphalangy-Clinodactyly Syndrome
Index Finger Anomaly with Pierre Robin Syndrome
Index Finger Anomaly-Pierre Robin Syndrome
Catmans
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Catel-Manzke Syndrome, also known as hyperphalangy-clinodactyly of index finger with pierre robin syndrome, is related to isolated 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 and tongue, and related phenotypes are failure to thrive and cleft palate
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
3
17
17

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top