Late-Infantile/juvenile Krabbe Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Late-Infantile/juvenile Krabbe Disease, is also known as krabbe disease, late-onset. An important gene associated with Late-Infantile/juvenile Krabbe Disease is GALC (Galactosylceramidase). Affiliated tissues include eye, and related phenotypes are abnormal enzyme/coenzyme activity and increased csf protein

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Related Diseases for Late-Infantile/juvenile Krabbe Disease

Diseases in the Krabbe Disease family:

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

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Symptoms & Phenotypes for Late-Infantile/juvenile Krabbe Disease

Human phenotypes related to Late-Infantile/juvenile Krabbe Disease:

⁵⁸ ³⁰ (show all 48)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal enzyme/coenzyme activity ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012379
2	increased csf protein ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002922
3	developmental regression ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002376
4	abnormality of visual evoked potentials ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000649
5	decreased nerve conduction velocity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000762
6	motor delay ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001270
7	mental deterioration ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001268
8	peripheral neuropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0009830
9	difficulty walking ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002355
10	spastic paraparesis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002313
11	spastic diplegia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001264
12	visual loss ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000572
13	abnormal cns myelination ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011400
14	clumsiness ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002312
15	frequent falls ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002359
16	loss of speech ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002371
17	esotropia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000565
18	eeg with persistent abnormal rhythmic activity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010846
19	prolonged brainstem auditory evoked potentials ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004466
20	loss of ambulation ³⁰	Frequent (33%)		HP:0002505
21	ataxia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001251
22	dysarthria ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001260
23	tremor ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001337
24	tetraplegia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002445
25	blindness ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000618
26	slurred speech ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001350
27	attention deficit hyperactivity disorder ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007018
28	pes cavus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001761
29	feeding difficulties ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011968
30	hemiplegia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002301
31	upper limb muscle weakness ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003484
32	impaired tactile sensation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010830
33	neuromuscular dysphagia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002068
34	acroparesthesia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0031006
35	emotional lability ³⁰	Occasional (7.5%)		HP:0000712
36	febrile seizure (within the age range of 3 months to 6 years) ³⁰	Occasional (7.5%)		HP:0002373
37	axial hypotonia ³⁰	Occasional (7.5%)		HP:0008936
38	irritability ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0000737
39	seizure ⁵⁸		Occasional (29-5%)
40	gait disturbance ⁵⁸		Frequent (79-30%)
41	visual impairment ⁵⁸		Occasional (29-5%)
42	upper motor neuron dysfunction ⁵⁸		Frequent (79-30%)
43	progressive inability to walk ⁵⁸		Frequent (79-30%)
44	lower limb spasticity ⁵⁸		Frequent (79-30%)
45	functional motor deficit ⁵⁸		Frequent (79-30%)
46	muscular hypotonia of the trunk ⁵⁸		Occasional (29-5%)
47	febrile seizures ⁵⁸		Occasional (29-5%)
48	mood changes ⁵⁸		Occasional (29-5%)

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Drugs & Therapeutics for Late-Infantile/juvenile Krabbe Disease

Search Clinical Trials, NIH Clinical Center for Late-Infantile/juvenile Krabbe Disease

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Genetic Tests for Late-Infantile/juvenile Krabbe Disease

Genetic tests related to Late-Infantile/juvenile Krabbe Disease:

#	Genetic test	Affiliating Genes
1	Late-Infantile/juvenile Krabbe Disease ²⁸

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Anatomical Context for Late-Infantile/juvenile Krabbe Disease

Organs/tissues related to Late-Infantile/juvenile Krabbe Disease:

MalaCards : Eye

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Publications for Late-Infantile/juvenile Krabbe Disease

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Genes for Late-Infantile/juvenile Krabbe Disease

Genes related to Late-Infantile/juvenile Krabbe Disease (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GALC	Galactosylceramidase	Protein Coding	350	Causative germline mutation ⁵⁸	20301416 23319190

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Variations for Late-Infantile/juvenile Krabbe Disease

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Expression for Late-Infantile/juvenile Krabbe Disease

Search GEO for disease gene expression data for Late-Infantile/juvenile Krabbe Disease.

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Pathways for Late-Infantile/juvenile Krabbe Disease

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GO Terms for Late-Infantile/juvenile Krabbe Disease

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Sources for Late-Infantile/juvenile Krabbe Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LTN017 MIFTS: 16	Late-Infantile/juvenile Krabbe Disease Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Symptoms & Phenotypes Expand all tables

Late-Infantile/juvenile Krabbe Disease

Aliases & Classifications for Late-Infantile/juvenile Krabbe Disease

MalaCards integrated aliases for Late-Infantile/juvenile Krabbe Disease:

Classifications:

External Ids:

Summaries for Late-Infantile/juvenile Krabbe Disease

Related Diseases for Late-Infantile/juvenile Krabbe Disease

Diseases in the Krabbe Disease family:

Symptoms & Phenotypes for Late-Infantile/juvenile Krabbe Disease

Human phenotypes related to Late-Infantile/juvenile Krabbe Disease:

Drugs & Therapeutics for Late-Infantile/juvenile Krabbe Disease

Genetic Tests for Late-Infantile/juvenile Krabbe Disease

Genetic tests related to Late-Infantile/juvenile Krabbe Disease:

Anatomical Context for Late-Infantile/juvenile Krabbe Disease

Organs/tissues related to Late-Infantile/juvenile Krabbe Disease:

Publications for Late-Infantile/juvenile Krabbe Disease

Genes for Late-Infantile/juvenile Krabbe Disease

Genes related to Late-Infantile/juvenile Krabbe Disease (1 elite genes):

Variations for Late-Infantile/juvenile Krabbe Disease

Expression for Late-Infantile/juvenile Krabbe Disease

Pathways for Late-Infantile/juvenile Krabbe Disease

GO Terms for Late-Infantile/juvenile Krabbe Disease

Sources for Late-Infantile/juvenile Krabbe Disease