Disease Comparison Results (show all mode) for Fanconi's pancytopenia-dysmelia synd and Spinopontine Atrophy /MJD disease

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Spinopontine Atrophy /MJD disease

Found: 34 | Differences: 24

Fanconi's pancytopenia-dysmelia synd

Found: 137 | Differences: 127

Fanconi's pancytopenia-dysmelia synd and Spinopontine Atrophy /MJD disease sharing 10 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Ataxia
Ataxia, Cerebellar type
Ataxia/Motor tremor type
Movement or gait disorder/signs
Neurologic manifestations/signs
Neurological symptoms/signs
Staggering Gait
Unable to tandem walk/straight line
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
CT Scan
CT Scan/Head pontine lesion
Associated Diseases & Rule outs
Associated Disease & Complications
Myelopathy manifestations/involvement
Spinopontine atrophy/MJD disease
Ataxia Disorder
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/CNS degeneration
Pathophysiology/Neurologic degenerative disorder (ex)
Process
PROCESS/Atrophic disorders (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Movement disorder (ex)
PROCESS/Developmental degenerative neurological disorder (ex)
PROCESS/Hereditary SCA (spinocerebellar ataxias)
Synonyms
Synonym
Synonym/Machado-Joseph disease
Synonym/MJD/Machado-Joseph disease
Clinical Manifestations
Signs & Symptoms
Brown skin discoloration
Bruising/Ecchymosis
Cafe au lait pigmentation
Hyperpigmented patches/sun exposed areas
Increased pigmentation/tanning/hyperpigmented
Patchy pigmentation/face/neck/hands
Petechiae/Petechial rash
Pigmentation Lesions on Healing
Pigmented patches/skin
Small testes
Small/soft testes
Excessive/easy bruising tendency
Hypertonia
Active reflexes
Hyperreflexia/DTRs increased
Hypoplastic thumb deformity
Shortened upper extremities
Epistaxis Children
Growth/development delay
Short stature
Short stature Child
Narrow Palpebral Fissures
Clinical Presentation & Variations
Anemia in Children
Presentation/Kidney malformations Congenital syndrome Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive/slowly chronic illness
Pancytopenia with Normal Marrow
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Jewish population
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Skeletal malformations
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Male
Laboratory Tests
Microbiology & Serology Findings
Reticulocytosis
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
DEB (Diepoxybutane) chromosome stability test abnormal (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Normocytic anemia
Normocytic/Normochromic Anemia (Lab)
Abnormal Lab Findings - Decreased
WBC
Hematocrit (Lab)
Hemoglobin (Lab)
Neutrophiles (Lab)
Nucleated red blood cells/Normoblasts (Lab)
Platelet count (Lab)
RBC/Red Blood Count (Lab)
Reticulocytes (Lab)
WBC/White Blood Cell Count/Leukocytes (Lab)
Abnormal Lab Findings - Increased
Fetal hemoglobin (Lab)
Diagnostic Test Results
Other Tests & Procedures
Bone Marrow/Absent Erythroblasts
X-RAY
Xray/Delayed bone age/slow epiphysis closures
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Myelodysplasia
Purpura, idiopathic thrombocytopenic
Associated Disease & Complications - Causes
Acute Myelocytic/Monocytic Leukemia
Acute Myelogenous/Myeloblastic Leukemia AML
Anemia
Anemia in a Baby/Young child
Anemia, aplastic
Anorchia/Hypoplasia testes
Aplastic crisis/hematologic
Autosplenectomy
Bone marrow failure/exhaustion
Congenital heart disease
Congenital/Neonatal Anemia
Epistaxis/nosebleed
Fanconi pancytopenia-dysmelia syndrome
Granulocytopenia/Neutropenia
Horseshoe kidney/deformity
Hyperpigmentation
Hypogenitalism/male
Leukemia
Limb deformities/anomalies
Microcephaly/oligophrenia
Microphthalmos
Myelosuppression
Pancytopenia
Peliosis hepaticus
Renal anomalies
Renal anomaly/aplasia/hypoplasia
Skeletal dysplasia
Skeletal/bone malformations
Spleen anomaly/aplasia/hypoplasia
Strabismus
Thrombocytopenia
Thrombocytopenia in Children
Anemic Year Old Child/Baby
Hand anomalies
Disease Synergy
Synergy/Parvovirus B19 marrow/effect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Marrow involvement/disorder (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Chromosome 16 tip/gene locus
Pathophysiology/Chromosomes fragile
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Multiple gene mutations/same locus
Pathophysiology/Oncogene FA-A/Locus 16q
Pathophysiology/Oncogene FA-B/Locus 9q
Pathophysiology/Oncogene FA-C/Locus 3p
Pathophysiology/Single gene locus indentified
Pathophysiology/Constitutional pancytopenia
Pathophysiology/Ineffective erythropoesis
Pathophysiology/Myelodysplasia process
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Chromosome breakage syndrome (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Two/multiple subsets/disease pattern
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
Synonyms
Synonym
Synonym/Anemia, Fanconi's
Synonym/Aplastic anemia with congenital anomalies
Synonym/Congenital pancytopenia
Synonym/Constitutional aplastic anemia
Synonym/Estren-Dameshek variant, Fanconi's anemia
Synonym/Fanconi Anemia/Complementation groups A-H
Synonym/Fanconi's anemia
Synonym/Fanconi's anemia, type 1 (FA1)
Synonym/Fanconi's pancytopenia
Synonym/Fanconi's panmyelopathy
Treatment
Drug Therapy
RX/Oxymetholone (Adroyd)
SX/Bone marrow transplant
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
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