inherited retinal dystrophy, cone-rod dystrophy
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Dysfunctional diseases
Dysfunctional pathway
Articles
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cone rod dystrophies
6 October 2003 -
X-linked chronic idiopathic intestinal pseudo-obstruction
30 November 2007X-linked chronic intestinal pseudo-obstruction, X-linked CIPO
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central core disease
28 July 2007Ent. 1956
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies.
CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle; orthopaedic complications are common and malignant (...) -
Kostmann disease
21 September 2007SCN3, severe congenital neutropenia type 3, autosomal recessive severe congenital neutropenia
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Opitz-Kaveggia syndrome
5 October 2007OKS, FG syndrome
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polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
29 November 2007PLOSL
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FTDP-17
18 January 2008frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP17)
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LIG4 syndrome
19 November 2003DNA ligase 4 deficiency
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neonatal diabetes mellitus
29 July 2007Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000-400,000 live births. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults.
The pancreatic dysfunction in this condition may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy.
In PNDM, (...) -
IL12B
31 August 2004The IL12B gene on chromosome 5q31-33 encodes the p40 subunit of interleukin 12, an immunomodulatory cytokine.
Interleukin-12 has 2 chains, a 35-kD chain encoded by IL12A (MIM.161560) and a 40-kD chain encoded by IL12B.
Pathology
germline mutations in
disseminated infection with BCG and Salmonella enteritidis (MIM.209950) (#9603732#, #9854038#)
IL12B polymorphisms association with in
asthma susceptibility (#15322986#)
psoriasis susceptibility (#17236132#)
References
Cargill M, (...)
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