DNA ligase 4 deficiency
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Dysfunctional diseases
Dysfunctional pathway
Articles
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LIG4 syndrome
19 November 2003 -
cone rod dystrophies
6 October 2003inherited retinal dystrophy, cone-rod dystrophy
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desmin cardiomyopathy
28 August 2007Synopsis
diffuse myocyte hypertrophy
nuclear pleomorphism without intramyocardial fibrosis
myofibers distorted by intracytoplasmic, pale, waxy hyaline inclusions
conduction fibers grossly swollen and preferentially involved
trichrome stain pale pink inclusions against a red background
inclusions PAS negative and not congophilic
Immunochemistry
desmin immunohistochemical staining variable dense staining of inclusions in some areas faint to no staining
Electron microscopy (...) -
Kostmann disease
21 September 2007SCN3, severe congenital neutropenia type 3, autosomal recessive severe congenital neutropenia
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Kartagener syndrome
24 November 2004Siewert syndrome
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hereditary hypofibrinogenemia
6 August 2007Definition: Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinogen, caused by mutations within 1 of the 3 fibrinogen genes.
Etiology
As hereditary afibrinogenemia, hereditary hypofibrinogenemia is the result of mutation in one or another of the 3 fibrinogen genes, alpha (FGA) (MIM.134820), beta (FGB) (MIM.134830), or gamma (FGG) (MIM.134850).
Complete absence of detectable fibrinogen, true congenital afibrinogenemia, was first demonstrated (...) -
F12
15 December 2007The coding sequence of F12 consists of multiple domains that are homologous to domains found in fibronectin (MIM.135600) and tissue-type plasminogen activator (tTPA) (MIM.173370).
These regions are found as separate exons in the gene. The 5-prime end of the gene does not contain the typical TATA and CAAT sequences found in other genes. This is consistent with the finding that transcription of the gene is initiated at multiple sites.
Pathology
inactivating germline mutations of F12 (...) -
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 (...) -
X-linked chronic idiopathic intestinal pseudo-obstruction
30 November 2007X-linked chronic intestinal pseudo-obstruction, X-linked CIPO
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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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