Statements (222)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:disease
gptkb:Genetics gptkb:blood |
| gptkbp:advocacy |
exist
advocated for |
| gptkbp:affects |
bone marrow
hemoglobin production |
| gptkbp:associated_with |
gptkb:Oncology
chromosomal instability heart problems solid tumors aplastic anemia bone deformities growth delays |
| gptkbp:carrier_testing |
available
|
| gptkbp:cause |
aplastic anemia
|
| gptkbp:caused_by |
gptkb:Francisella_tularensis
genetic mutations mutations in genes |
| gptkbp:clinical_trial |
ongoing
available for patients focused on gene therapy focused on new therapies focused on stem cell treatments |
| gptkbp:collaboration |
encouraged
|
| gptkbp:community_health |
in certain regions
|
| gptkbp:community_impact |
gptkb:significant
affects millions |
| gptkbp:community_involvement |
increasing
|
| gptkbp:community_support |
beneficial
|
| gptkbp:complication |
gptkb:pneumonia
meningitis sepsis |
| gptkbp:complications |
infection risk
iron overload bone issues |
| gptkbp:condition |
Fanconi syndrome
|
| gptkbp:cultural_representation |
important
|
| gptkbp:death |
<1% to 30% depending on form
|
| gptkbp:develops_policies_for |
needed
|
| gptkbp:diagnosis |
PCR
blood tests genetic testing varies by type serology depends on treatment chromosomal breakage test depends on age at diagnosis depends on severity of symptoms |
| gptkbp:educational_resources |
available online
|
| gptkbp:family_planning |
considerations exist
|
| gptkbp:financial_support |
important
|
| gptkbp:first_described_by |
gptkb:1927
1911 Fanconi in 1927 |
| gptkbp:form |
glandular
oculoglandular oropharyngeal pneumonic septicemic typhoidal ulceroglandular |
| gptkbp:funding |
important
|
| gptkbp:genetic_diversity |
considered in research
|
| gptkbp:genetic_studies |
ongoing
recommended recommended for families available for family members recommended for at-risk individuals |
| gptkbp:geographic_distribution |
gptkb:Europe
gptkb:Asia gptkb:North_America |
| gptkbp:healthcare |
can be high
need training |
| https://www.w3.org/2000/01/rdf-schema#label |
anemia
|
| gptkbp:increased_risk_of |
gptkb:Oncology
|
| gptkbp:incubation_period |
3 to 5 days
|
| gptkbp:inherits_from |
autosomal recessive
X-linked recessive |
| gptkbp:is_involved_in |
available
available for patients families of affected individuals |
| gptkbp:is_often_seen_in |
gptkb:Middle_East
gptkb:Southeast_Asia Mediterranean region |
| gptkbp:is_vulnerable_to |
no
|
| gptkbp:lifespan |
varies by severity
|
| gptkbp:named_after |
gptkb:G._Fanconi
gptkb:Tulare_County,_California |
| gptkbp:originated_in |
gptkb:FANCA
gptkb:FANCB gptkb:FANCC gptkb:FANCD2 gptkb:FANCF gptkb:FANCL gptkb:FANCM gptkb:FANCR gptkb:FANCD1 gptkb:FANCD3 FANCG FANCI FANCS FANCT FANDE FANDF FANDG FANDH FANDI FANDJ FANDK FANDL FANDM FANDN FANDO FANDP FANDQ FANDR FANDS FANDT FANDU FANDV FANDW FANDX FANDY FANDZ FANEA FANEB FANEC FANED FANEE FANEF FANEG FANEH FANEI FANEJ FANEK FANEL FANEM FANEN FANEO FANEP FANEQ FANER FANES FANET FANEU FANEV FANEW FANEX FANEY FANEZ FANJN |
| gptkbp:patient_education |
essential
|
| gptkbp:prevalence |
rare disorder
1 in 130,000 births |
| gptkbp:prevention |
avoidance of contact with infected animals
use of insect repellent |
| gptkbp:provides_guidance_on |
varies by location
developed |
| gptkbp:public_awareness |
ongoing
important for management important for research funding important for early diagnosis |
| gptkbp:research |
ongoing studies
new treatment options gene therapy trials |
| gptkbp:research_focus |
gptkb:gene_therapy
new treatment options |
| gptkbp:research_institutes |
conduct studies
|
| gptkbp:risk_factor |
hunting
radiation exposure family history tick bites occupational exposure exposure to certain chemicals contact with contaminated water certain congenital conditions |
| gptkbp:screenings |
newborn screening
|
| gptkbp:support |
necessary
|
| gptkbp:symptoms |
gptkb:anemia
fatigue headache fever critical increased cancer risk chills swollen lymph nodes pale skin enlarged spleen muscle aches short stature skeletal abnormalities skin ulcers bone marrow failure skin pigmentation changes |
| gptkbp:transmission |
vector-borne
|
| gptkbp:treatment |
antibiotics
supportive care androgens bone marrow transplant blood transfusions iron chelation therapy |
| gptkbp:type_of |
gptkb:Alpha_thalassemia
gptkb:Beta_thalassemia FA-A FA-B FA-C FA-D1 FA-D2 FA-E FA-F FA-G FA-H |
| gptkbp:bfsParent |
gptkb:disease
gptkb:virus gptkb:Vitaminwater gptkb:Oncology gptkb:Interpol gptkb:Sangamo_Therapeutics gptkb:Vertex_Pharmaceuticals gptkb:castle |
| gptkbp:bfsLayer |
4
|