Digitorenocerebral Syndrome

A rare hereditary disorder associated with mutations in the TBC1D24 gene and characterized by MICROCEPHALY and facial abnormalities, SENSORINEURAL DEAFNESS, blindness and eye abnormalities, small or absent distal fingers and toes, seizures, and intellectual disability. Heart and kidney defects may also be present. OMIM: 220500

Also Known As:

Networked: 7 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Psychotic Disorders (Schizoaffective Disorder)
2.	Deafness (Deaf Mutism)
3.	Intellectual Disability (Idiocy)
4.	Chronic Disease (Chronic Diseases)

Experts

1.	Culver, Kathy: 1 article (12/2007)
2.	Golabi, Mahin: 1 article (12/2007)
3.	Hall, Bryan D: 1 article (12/2007)
4.	James, Aaron W: 1 article (12/2007)
5.	Miranda, Suzette G: 1 article (12/2007)
6.	Bustillo, Juan R: 1 article (03/2003)
7.	Lauriello, John: 1 article (03/2003)
8.	Lenroot, Rhoshel: 1 article (03/2003)
9.	Baruch, Yehuda: 1 article (01/2003)
10.	Haver, Eitan: 1 article (01/2003)

Drugs and Biologics

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

1.	Biomarkers (Surrogate Marker)IBA 12/15/2002 - "This study demonstrates for the first time that E1(0) deficiency is an important biochemical marker for the autosomal recessive form of DOOR syndrome."
2.	Ketoglutaric Acids (Ketoglutaric Acid)IBA 12/01/2007 - "The majority of patients with DOOR syndrome have elevated levels of 2-oxoglutarate in the urine and plasma. " 12/15/2002 - "Four patients from three families with the clinical features of DOOR syndrome (onycho-osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2-oxoglutarate) are the subjects of this report. " 01/01/1987 - "DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients."
3.	Ketoglutarate Dehydrogenase Complex (Oxoglutarate Dehydrogenase)IBA 12/15/2002 - "DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex."

Therapies and Procedures

1.	Secondary Prevention 03/01/2003 - "Relatively simple sustained family interventions and more comprehensive ACT programs are effective for relapse prevention and reduction of the "revolving door syndrome," whereas patients with psychosis nonresponsive to medication may benefit from new modalities of CBT. "
2.	Patient Readmission 01/01/2003 - "However, alongside the research supporting these reforms, there is some research that demonstrates a number of possible disadvantages: an increase in the number of homeless and in the mortality rate among psychiatric patients, and an increase in rehospitalization rates of chronically ill patients," referred to as the "Revolving Door Syndrome." To avoid the disadvantages that could possibly accompany the reform, particular attention needs to be given to planning and funding, so that development of community services and reduction in psychiatric hospital system correspond. "
3.	Long-Term Care 12/01/1988 - "Case management (not to be confused with the payers' use of the term, referring to a method to contain cost of care) services can assist the frail elderly, providing them with the best possible quality of life by helping them avoid the "revolving door" syndrome of repeated and often unnecessary hospitalization and premature or inappropriate placement in long-term care facilities. "
4.	Institutionalization (Institutionalized Persons) 09/01/1995 - "In the minds of many people, the nightmare of institutionalization has been replaced by the horrors of deinstitutionalization, and the 'revolving door' syndrome has become a 'spinning door' syndrome. "
5.	Deinstitutionalization 09/01/1995 - "In the minds of many people, the nightmare of institutionalization has been replaced by the horrors of deinstitutionalization, and the 'revolving door' syndrome has become a 'spinning door' syndrome. "