adult Krabbe disease

Summary

adult Krabbe disease (MONDO:0016091) is a disease. A subtype of Krabbe disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 44

Clinical features

Signs & symptoms

Clinical features (HPO)

44 HPO clinical features (Orphanet curated; top 44 by frequency):

HPO ID	Term	Frequency
HP:0002493	Upper motor neuron dysfunction	Very frequent (80-99%)
HP:0034322	Reduced galactocerebrosidase activity	Very frequent (80-99%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001257	Spasticity	Frequent (30-79%)
HP:0001273	Abnormal corpus callosum morphology	Frequent (30-79%)
HP:0002418	Abnormality of midbrain morphology	Frequent (30-79%)
HP:0002922	Increased CSF protein concentration	Frequent (30-79%)
HP:0003202	Skeletal muscle atrophy	Frequent (30-79%)
HP:0003487	Babinski sign	Frequent (30-79%)
HP:0006801	Hyperactive deep tendon reflexes	Frequent (30-79%)
HP:0007199	Progressive spastic paraparesis	Frequent (30-79%)
HP:0007305	CNS demyelination	Frequent (30-79%)
HP:0007361	Abnormality of the pons	Frequent (30-79%)
HP:0012379	Abnormal enzyme/coenzyme activity	Frequent (30-79%)
HP:0031993	Hoffmann sign	Frequent (30-79%)
HP:0000572	Visual loss	Occasional (5-29%)
HP:0000726	Dementia	Occasional (5-29%)
HP:0001268	Mental deterioration	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)
HP:0002062	Morphological abnormality of the pyramidal tract	Occasional (5-29%)
HP:0002312	Clumsiness	Occasional (5-29%)
HP:0002344	Progressive neurologic deterioration	Occasional (5-29%)
HP:0002353	EEG abnormality	Occasional (5-29%)
HP:0002359	Frequent falls	Occasional (5-29%)
HP:0002650	Scoliosis	Occasional (5-29%)
HP:0003474	Somatic sensory dysfunction	Occasional (5-29%)
HP:0003484	Upper limb muscle weakness	Occasional (5-29%)
HP:0004302	Functional motor deficit	Occasional (5-29%)
HP:0004466	Prolonged brainstem auditory evoked potentials	Occasional (5-29%)
HP:0007141	Sensorimotor neuropathy	Occasional (5-29%)
HP:0007340	Lower limb muscle weakness	Occasional (5-29%)
HP:0009830	Peripheral neuropathy	Occasional (5-29%)
HP:0010830	Impaired tactile sensation	Occasional (5-29%)
HP:0011096	Peripheral demyelination	Occasional (5-29%)
HP:0011441	Abnormality of the medulla oblongata	Occasional (5-29%)
HP:0031006	Acroparesthesia	Occasional (5-29%)
HP:0000020	Urinary incontinence	Very rare (<1-4%)
HP:0001761	Pes cavus	Very rare (<1-4%)
HP:0002136	Broad-based gait	Very rare (<1-4%)
HP:0002273	Tetraparesis	Very rare (<1-4%)
HP:0002301	Hemiplegia	Very rare (<1-4%)
HP:0002371	Loss of speech	Very rare (<1-4%)
HP:0002492	Morphological abnormality of the corticospinal tract	Very rare (<1-4%)
HP:0100639	Erectile dysfunction	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	adult Krabbe disease
Mondo ID	MONDO:0016091
Orphanet	206448
ICD-11	699668826
UMLS	C0268252
MedGen	120623
GARD	0020345
Is cancer (heuristic)	no

Also known as: Krabbe disease of adults

Disease family

This is a subtype of Krabbe disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › eye degenerative disorder › Krabbe disease › adult Krabbe disease

Related subtypes (2): infantile Krabbe disease, late-infantile/juvenile Krabbe disease

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.