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Disease Comparison Results (show all mode) for Biber-Haab-Dimmer syndrome and Neuropathy, hypertrophic interstitial

Clinical
Demographics
Lab
Diagnostic
Diseases
Classification
Synonyms
Treatment
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Found: 89 | Differences: 78

Found: 26 | Differences: 15

Biber-Haab-Dimmer syndrome and Neuropathy, hypertrophic interstitial sharing 11 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms: Leg/lower extremity pains; Weak/Weak as a kitten (symptom); Anesthetic hypesthetic limbs/areas; Ankle reflexes decreased; Ataxia; Glove/stocking hypesthesia; Hypesthesia; Hyporeflexia/DTRs decreased; Leg reflexes, bilateral decrease; Loss of pain of temperature sensation; Motor and sensory neuropathy/Polyneuropathy signs; Nerve trunk/enlarged, palpable; Paresthesias; Sensory Ataxia; Staggering Gait; Symmetric Polyneuropathy; Unable to tandem walk/straight line; Weak reflexes; Weakness/Diffuse motor loss; Enervated/extreme acute fatigue; Weakness
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Progressive; Course/Progressive/slowly chronic illness; Onset/Childhood

Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Family History: Family history/Nerve disease
Sex & Age Groups: Population/Child; Population/Children/all; Population/Infant

Laboratory Tests
Abnormal Lab Findings: URINE Casts/Protein casts

Diagnostic Test Results
Pathology: BX/Nerve biopsy onion bulb connective tissue; BX/Nerve biopsy/abnormal; BX/Nerve biopsy/Schwann cell hyperplasia; BX/Nerve biopsy/segmental demyelination; BX/Nerve biopsy/Sural nerve/abnormal; BX/Nerve biopsy/Thin myelination
Electrodiagnosis: EMG/NCS Abnormal NC Time; EMG/NCS Slowing; Nerve Conduction Study Abnormal ENG

Associated Diseases & Rule outs
Associated Disease & Complications: Charcot neuroarthropathic joint; Motor neuropathy; Nephritis tubulointerstitial; Nephritis, interstitial; Neuropathy; Neuropathy, hypertrophic hereditary interstitial; Peripheral neuropathy; Polyneuritis; Sensory neuropathy; Ataxia Disorder; Demyelinating Disease; Polyneuropathy

Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex); CLASS/Neurologic (category)
Pathophysiology: Pathophysiology/Gene locus 10q21.1-q22.1; Pathophysiology/Gene locus 17p11.2; Pathophysiology/Gene locus 19q13.1-q13.2; Pathophysiology/Gene locus 1q22; Pathophysiology/Gene locus Chromosome 1; Pathophysiology/Gene locus Chromosome 10; Pathophysiology/Gene locus Chromosome 17; Pathophysiology/Gene locus chromosome 19; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Sporadic/hereditary/process; Pathophysiology/Delayed nerve conduction velocity; Pathophysiology/Demyelination; Pathophysiology/Hereditary Neuropathy; Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Autosomal recessive disorder (ex); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Hereditofamilial (category); PROCESS/Hypertrophic/Hyperplastic disorder (ex); PROCESS/Hereditory motor/sensory neuropathy (ex)

Synonyms
Synonym: Synonym/Acute tubulointerstitial nephritis syndrome; Synonym/Dejerine-Sottas disease; Synonym/Hereditary motor-sensory neuropathy type III; Synonym/HMSN Type III; Synonym/HSMN type III; Synonym/Hypertrophic interstitial neuritis; Synonym/Onion-bulb neuropathy; Synonym/Progressive hypertrophic neuropathy; Synonym/Radiculoneuropathy, hypertrophic interstitial

Treatment
Drug Therapy: SX/Nerve biopsy

Clinical Manifestations
Signs & Symptoms: Corneal opacity; Crystals in cornea; Eye symptoms/signs; Photophobia/Light sensitive
Disease Progression: Course/Chronic disorder; Course/Chronic only

Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all; Population/Infant

Associated Diseases & Rule outs
Associated Disease & Complications: Blindness

Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex); CLASS/Eye involvement/disorder (ex); CLASS/Eyes/accessory (category)
Pathophysiology: Pathophysiology/Cystine metabolism defect; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Bowman's membrane involvement
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Eponymic (category); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Esoteric disease (example); PROCESS/Metabolic/storage disorder (category); PROCESS/Storage disorder (ex)

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