HOME PRODUCTS COMPANY CONTACT FAQ

Research Dictionary Pharma

Sign Up FREE or Login

CATSHL syndrome

Also Known As:

Camptodactyly, tall stature, and hearing loss syndrome

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Congenital Upper Extremity Deformities
        Congenital Hand Deformities: 2
        CATSHL syndrome: 2
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - CATSHL syndrome: 2
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        CATSHL syndrome: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        CATSHL syndrome: 2

Related Diseases

1.	Hearing Loss (Hearing Impairment)

Experts

1.	Chen, Di: 1 article (01/2020)
2.	Chen, Hangang: 1 article (01/2020)
3.	Chen, Lin: 1 article (01/2020)
4.	Chen, Shuai: 1 article (01/2020)
5.	Du, Xiaolan: 1 article (01/2020)
6.	Huang, Junlan: 1 article (01/2020)
7.	Jin, Min: 1 article (01/2020)
8.	Liang, Sen: 1 article (01/2020)
9.	Liu, Mi: 1 article (01/2020)
10.	Luo, Fengtao: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to CATSHL syndrome:

1.	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 01/01/2016 - "Here we describe the second reported family with the CATSHL syndrome, a condition resulting from a unique mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. " 01/01/2020 - "CATSHL syndrome, characterized by camptodactyly, tall stature and hearing loss, is caused by loss-of-function mutations of fibroblast growth factor receptors 3 (FGFR3) gene. "
2.	CateninsIBA 01/01/2020 - "Fgfr3 mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/β-catenin signaling." 01/01/2020 - "Our findings provide evidence that modulation of Wnt/β-catenin activity could be a potential therapy for CATSHL syndrome and related skeleton diseases."

Therapies and Procedures

1.	Therapeutics 01/01/2020 - "Our findings provide evidence that modulation of Wnt/β-catenin activity could be a potential therapy for CATSHL syndrome and related skeleton diseases."