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Kahrizi Syndrome

Also Known As:

Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Eye Abnormalities: 95
    - Coloboma: 478
      - Kahrizi Syndrome: 1
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Spinal Diseases: 449
    - Spinal Curvatures: 154
      - Kyphosis: 2530
        Kahrizi Syndrome: 1
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Kahrizi Syndrome: 1
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Kahrizi Syndrome: 1
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Kahrizi Syndrome: 1
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Kahrizi Syndrome: 1
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Kahrizi Syndrome: 1

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Kyphosis
3.	Coloboma (Colobomas)
4.	Cataract (Cataracts)

Experts

1.	Abedini, Seyedeh Sedigheh: 1 article (01/2011)
2.	Chen, Wei: 1 article (01/2011)
3.	Garshasbi, Masoud: 1 article (01/2011)
4.	Ghadami, Shirin: 1 article (01/2011)
5.	Hu, Cougar Hao: 1 article (01/2011)
6.	Kahrizi, Kimia: 1 article (01/2011)
7.	Kariminejad, Roxana: 1 article (01/2011)
8.	Kuss, Andreas W: 1 article (01/2011)
9.	Najmabadi, Hossein: 1 article (01/2011)
10.	Ropers, H-Hilger: 1 article (01/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Kahrizi Syndrome:

1.

01/01/2011 - "As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation, coloboma, cataract and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4. By combining array-based exon enrichment and next generation sequencing, we have now identified a homozygous frameshift mutation (c.203dupC; p.Phe69LeufsX2) in the gene for steroid 5α-reductase type 3 (SRD5A3) as the disease-causing change in this interval. "