Adult Krabbe Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ADL071 MIFTS: 18	Adult Krabbe Disease Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Adult Krabbe Disease

MalaCards integrated aliases for Adult Krabbe Disease:

Name: Adult Krabbe Disease ⁵⁸

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other sphingolipidosis

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E75.2

UMLS via Orphanet ⁷² C0268252

Orphanet ⁵⁸ ORPHA206448

SNOMED-CT via HPO ⁶⁸ 165232002 205091006 246586009 more

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Summaries for Adult Krabbe Disease

MalaCards based summary : Adult Krabbe Disease is related to krabbe disease and paraplegia. An important gene associated with Adult Krabbe Disease is GALC (Galactosylceramidase). Affiliated tissues include eye, pons and medulla oblongata, and related phenotypes are ataxia and babinski sign

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Related Diseases for Adult Krabbe Disease

Diseases in the Krabbe Disease family:

Infantile Krabbe Disease	Late-Infantile/juvenile Krabbe Disease
Adult Krabbe Disease

Diseases related to Adult Krabbe Disease via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	krabbe disease	10.0
2	paraplegia	10.0
3	autosomal dominant leukodystrophy with autonomic disease	10.0

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Symptoms & Phenotypes for Adult Krabbe Disease

Human phenotypes related to Adult Krabbe Disease:

⁵⁸ ³¹ (show all 42)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001251
2	babinski sign ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003487
3	hyperactive deep tendon reflexes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006801
4	abnormal enzyme/coenzyme activity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012379
5	abnormal corpus callosum morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001273
6	abnormality of midbrain morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002418
7	progressive spastic paraparesis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007199
8	increased csf protein ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002922
9	cns demyelination ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007305
10	abnormality of the pons ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007361
11	hoffmann sign ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031993
12	eeg abnormality ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002353
13	clumsiness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002312
14	progressive neurologic deterioration ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002344
15	visual loss ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000572
16	frequent falls ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002359
17	upper limb muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003484
18	impaired tactile sensation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010830
19	sensorimotor neuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007141
20	lower limb muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007340
21	peripheral demyelination ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011096
22	acroparesthesia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0031006
23	prolonged brainstem auditory evoked potentials ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004466
24	abnormality of the medulla oblongata ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011441
25	pes cavus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001761
26	broad-based gait ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002136
27	tetraparesis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002273
28	hemiplegia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002301
29	loss of speech ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002371
30	urinary incontinence ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000020
31	morphological abnormality of the corticospinal tract ³¹	very rare (1%)		HP:0002492
32	erectile dysfunction ³¹	very rare (1%)		HP:0100639
33	gait disturbance ⁵⁸		Occasional (29-5%)
34	spasticity ⁵⁸		Frequent (79-30%)
35	peripheral neuropathy ⁵⁸		Occasional (29-5%)
36	erectile abnormalities ⁵⁸		Very rare (<4-1%)
37	mental deterioration ⁵⁸		Occasional (29-5%)
38	upper motor neuron dysfunction ⁵⁸		Very frequent (99-80%)
39	sensory impairment ⁵⁸		Occasional (29-5%)
40	functional motor deficit ⁵⁸		Occasional (29-5%)
41	morphological abnormality of the pyramidal tract ⁵⁸		Occasional (29-5%)
42	abnormality of the corticospinal tract ⁵⁸		Very rare (<4-1%)

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Drugs & Therapeutics for Adult Krabbe Disease

Search Clinical Trials , NIH Clinical Center for Adult Krabbe Disease

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Genetic Tests for Adult Krabbe Disease

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Anatomical Context for Adult Krabbe Disease

MalaCards organs/tissues related to Adult Krabbe Disease:

⁴⁰

Eye, Pons, Medulla Oblongata

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Publications for Adult Krabbe Disease

Articles related to Adult Krabbe Disease:

#	Title	Authors	PMID	Year
1	Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft. ⁶¹	Laule C...Sirrs SM	29479774	2018
2	Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. ⁶¹	Yoshimura A...Yokochi K	27679535	2016
3	Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. ⁶¹	Debs R...Sedel F	23197103	2013
4	MR imaging and proton MR spectroscopy in adult Krabbe disease. ⁶¹	Farina L...Wenger DA	11003282	2000

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Genes for Adult Krabbe Disease

Genes related to Adult Krabbe Disease (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GALC	Galactosylceramidase	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Adult Krabbe Disease

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Expression for Adult Krabbe Disease

Search GEO for disease gene expression data for Adult Krabbe Disease.

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Pathways for Adult Krabbe Disease

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GO Terms for Adult Krabbe Disease

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Sources for Adult Krabbe Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia