Disease Comparison Results (show differences mode) for Pelizaeus-Merzbacher disease and Xeroderma pigmentosum

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Xeroderma pigmentosum

Found: 64 | Differences: 49

Pelizaeus-Merzbacher disease

Found: 163 | Differences: 148

Pelizaeus-Merzbacher disease and Xeroderma pigmentosum sharing 15 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Sun exposed areas/face, arms/involved
Actinic skin lesions present/sign
Dry skin/scaling dry skin
Freckling excess skin/exposed areas
Hyperpigmented patches/sun exposed areas
Increased pigmentation/tanning/hyperpigmented
Mutilating/skin lesions/light exposed areas/face
Patchy pigmentation/face/neck/hands
Photosensitivity/Sunsensitive skin
Pruritis Itching
Scaling/Skin finding
Skin atrophy/Poikiloderma
Hyporeflexia/DTRs decreased
Low intelligence/Low IQ
Bloodshot eyes/Conjunctival injection
Photophobia/Light sensitive
Red Eyes Bilateral
Scleral Injection
Typical Clinical Presentation
Presentation/Normal infant/Severe hereditary disease
Laboratory Tests
Abnormal Lab Findings - Decreased
Uric acid, serum (Lab)
Abnormal Lab Findings - Increased
URINE Hypoxanthine
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Ataxia-telangiectasia
Basal cell carcinoma
Associated Disease & Complications - Causes
Actinic keratosis
Basal cell carcinoma
Carcinoma, squamous, skin
Conjunctivitis
Cutaneous angioma/hemangioma
Ectropion, eyelid
Entropion, eyelids
Hyperpigmentation
Keratitis
Keratoacanthoma
Melanoma, malignant
Photosensitivity dermatitis
Phototoxicity
Poikiloderma congenitale
Xeroderma
Xeroderma pigmentosa
Disease Mechanism & Classification
Class
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Eyelid manifestations/involvement
Pathophysiology
Pathophysiology/DNA transcriptase repair defect
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 10q
Pathophysiology/Oncogene PRCA1/Locus 10q
Process
PROCESS/Autosomal recessive disorder (ex)
Synonyms
Synonym
Early Onset Ataxia/Children
Treatment
Other Treatments
TX/Expectant/supportive treatment.
Clinical Manifestations
Signs & Symptoms
Dizzy on Standing/Giddy Response
Orthostatic drop in blood pressure
Bowel/Stool Incontinence
Bowel/stool incontinence in Children
Muscle spasticity
Scissor legs posture/gait
Ataxia
Ataxia, Cerebellar type
Ataxia/Motor tremor type
Athetosis
Awkward Uncoordinated Child
Basal ganglion signs
Chorea signs
Choreoathetoid movement
Choreoathetosis
CNS symptoms/signs
Coordination/signs
Dysarthria
Gait disturbance/abnormality
Hyperreflexia/DTRs increased
Infant/loss of head control
Intellectual Decline Children
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Mental/motor retardation in children/signs
Movement or gait disorder/signs
Nystagmus
Nystagmus, pendular
Nystagmus, rotary
Paralysis
Pill-rolling tremor/Parkinsonoid
Progressive neurological disorder/signs
Psychomotor regression/infant/child
Regressing neuromotor/skills child/signs
Rotary head movements
Seizures
Slow speech
Spastic paralysis/signs
Spastic paraplegia/signs
Staggering Gait
Tremor
Tremor in Children
Unable to tandem walk/straight line
Psychomotor retardation
Difficulty Talking
Stridor (Inspiratory noise)
Stridor infant Child
Urinary incontinence in Children
Urine Incontinence
True Vertigo Sign Confirmed
Clinical Presentation & Variations
Presentation/Male infant Head nod Nystagmus Roving eyes
Presentation/Mental Retardation Progressive
Presentation/Progressive Dementia
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Life-span decreased
Course/Progressive
Course/Progressive/slowly chronic illness
Course/Prolonged/persistent/Not progressive
Onset childhood/young adult/twenties
Onset/Infancy
Prognosis/Death in early twenties usual
Demographics & Risk Factors
Family History
Family history/Childhood CNS degenerating disease/death
Family history/Gait disorders
Family history/Mental retardation
Family history/Nerve disease
Sex & Age Groups
Population/Boy patient
Population/Male
Population/Male-only/limit
Diagnostic Test Results
Pathology
PATH/Brain Axons intact/absent myelin/diffuse patterns
PATH/Brain Axons preserved/few oligodendrocytes/loss myelin
PATH/Brain Demyelinated diffuse/patchy tigroid appearance
PATH/Brain Myelin in ball like structures Oligodendrocyte processes
PATH/Brain Proteolipid protein/PLP reduced (immunohistochem stains)
PATH/Brain/Sudanophilic myelin dystrophy/leukodystrophy
PATH/CNS involvement/pathology specimen
PATH/Gliosis/Brain/CNS
PATH/Subcortical CNS process/lesion
Electrodiagnosis
EEG/ABR/Auditory evoked response/potential abnormal/AEP
EEG/Auditory evoked potential/ABR/loss of III-V waves
EEG/Evoked Potential Responses Abnormal
EEG/Somatic sensory evoked response/SSEP/SSER abnormal
EEG/Somatosensory evoked potential/Cortical response absent (SSEP)
EEG/Visual evoked response/abnormality
CT Scan
MRI/Head Brain Abnormal
MRI/Head Child delayed myelinization pattern
MRI/Head Demyelination white matter
MRI/Head white matter/diffuse hemispheres and corticospinal lesions
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Cerebral palsy
Associated Disease & Complications - Causes
Anal Incontinence
Cerebral spastic diplegia
Congenital Nystagmus
Dementia
Developmental neurologic degeneration/child
Laryngeal stridor
Leukodystrophy
Mental retardation
Microcephaly/oligophrenia
Paraplegia
Pelizaeus-Merzbacher disease
Tracheomalacia
Ataxia Disorder
Demyelinating Disease
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Basal ganglia lesion/involvement/disorders (ex)
Pathophysiology
Pathophysiology/Dominant and Autosomal recessive variants
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene locus Chromosome Xq
Pathophysiology/Gene locus Xq22
Pathophysiology/Genomic base pair repeats mutation
Pathophysiology/Infants males/adults possible females/dominant
Pathophysiology/PLP gene seven exon/mutation/deletion/repeats
Pathophysiology/X-linked and autosomal dominant types
Pathophysiology/Cerebral demyelination
Pathophysiology/CNS degeneration
Pathophysiology/CNS Proteolipid protein (PLP) gene
Pathophysiology/Demyelination
Pathophysiology/Oligodendrocyte/CNS defective development
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Developmental/delayed expression disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Heterogenous group of disorders (ex)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Subsets/Variable dominance/sex linkage
PROCESS/Two/multiple subsets/disease pattern
PROCESS/Hereditary ataxia disorder (ex)
PROCESS/Hereditary SCA (spinocerebellar ataxias)
PROCESS/Leukodystrophy process (ex)
Synonyms
Synonym
Synonym/Acute Infantile Pelizaeus-Merzbacher subtype
Synonym/Adult late-onset Pelizaeus-Merzbacher subtype
Synonym/Aplasia, Axialis extracorticales congenital
Synonym/Autosomal dominant Pelizaeus-Merzbacher brain sclerosis
Synonym/Brain sclerosis
Synonym/Classical X-linked Brain sclerosis (Pelizaeus-Merzbacher)
Synonym/Extracortical axial aplasia
Synonym/Familial brain sclerosis
Synonym/Pelizaeus-Merzbacher brain sclerosis
Synonym/PMD
Synonym/Sclerosis, diffuse familial brain
Synonym/Sudanophilic leukodystrophy, Pelizaeus-Merzbacher type
Treatment
Other Treatments
TX/Supportive/Symptomatic treatment
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