Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus.
Category
Respiratory system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
Certain lower respiratory tract diseases
CA25 Cystic fibrosis
H00218 Cystic fibrosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00218 Cystic fibrosis
De Rose V, Arduino C, Cappello N, Piana R, Salmin P, Bardessono M, Goia M, Padoan R, Bignamini E, Costantini D, Pizzamiglio G, Bennato V, Colombo C, Giunta A, Piazza A
Title
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts in CED.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00434 Camurati-Engelmann disease
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06507 TGFB signaling
H00434 Camurati-Engelmann disease
Cellular process
nt06535 Efferocytosis
H00434 Camurati-Engelmann disease
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K
Title
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Saito T, Kinoshita A, Yoshiura Ki, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N
Title
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
DISEASE: Inflammatory bowel disease, immunodeficiency, and encephalopathy
Entry
H02669 Disease
Name
Inflammatory bowel disease, immunodeficiency, and encephalopathy
Description
Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) is a severe infantile inflammatory bowel disease and central nervous system disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy. It has been reported that loss-of-function mutations in the TGFB1 cause this disease.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Certain disorders involving the immune system
4B2Y Other specified disorders involving the immune system
H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy
