CORLK
MCID: LKD038
MIFTS: 15

Leukodystrophy, Childhood-Onset, Remitting (CORLK)

Categories: Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Leukodystrophy, Childhood-Onset, Remitting

MalaCards integrated aliases for Leukodystrophy, Childhood-Onset, Remitting:

Name: Leukodystrophy, Childhood-Onset, Remitting 57 73
Corlk 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
acute onset in the first year of life (some patients)
acute decompensation with loss of developmental skills is triggered by fever or infection
patients regain developmental skills over the following months and years
clinical improvement correlates with resolution of white matter abnormalities
one family has been reported (last curated may 2022)


Classifications:



External Ids:

OMIM® 57 619864
MeSH 43 D020279
MedGen 40 CN312034
SNOMED-CT via HPO 69 192781003 22325002 29753000

Summaries for Leukodystrophy, Childhood-Onset, Remitting

OMIM®: 57 Childhood-onset remitting leukodystrophy (CORLK) is a very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Affected children recover over the following several months, regaining normal development accompanied by remyelination. Not all patients have documented acute episodes of metabolic demyelination in infancy, but individuals with the FBP2 mutation show persistent white matter abnormalities on brain imaging that resemble the abnormalities observed in infants with the acute crisis. Other neurologic disturbances that may or may not be related to the FBP2 mutation have been observed, including psychiatric manifestations, seizures, and mild learning difficulties (Gizak et al., 2021). (619864) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Childhood-Onset, Remitting, is also known as corlk. An important gene associated with Leukodystrophy, Childhood-Onset, Remitting is FBP2 (Fructose-Bisphosphatase 2). Affiliated tissues include brain, and related phenotypes are gait disturbance and irritability

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by loss of developmental abilities, demyelination and leukodystrophy on brain imaging, triggered by fever or infection in the first year of life. Abnormalities almost completely resolve over a period of 1 to 2 years, and affected children regain normal development accompanied by remyelination.

Related Diseases for Leukodystrophy, Childhood-Onset, Remitting

Symptoms & Phenotypes for Leukodystrophy, Childhood-Onset, Remitting

Human phenotypes related to Leukodystrophy, Childhood-Onset, Remitting:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 30 Very rare (1%) HP:0001288
2 irritability 30 Very rare (1%) HP:0000737
3 leukodystrophy 30 Very rare (1%) HP:0002415
4 abnormal cerebral white matter morphology 30 Very rare (1%) HP:0002500
5 focal-onset seizure 30 Very rare (1%) HP:0007359
6 tube feeding 30 Very rare (1%) HP:0033454

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Behavioral Psychiatric Manifestations:
schizophrenia
psychosis
psychiatric manifestations (in some patients)
anorexia nervosa
drug addiction

Abdomen Gastrointestinal:
tube feeding (during the acute episode)

Neurologic Central Nervous System:
seizures (in some patients)
speech delay
demyelination
normal early development
acute loss of developmental milestones (in late infancy)
more
Laboratory Abnormalities:
mitochondrial abnormalities in fibroblasts

Clinical features from OMIM®:

619864 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy, Childhood-Onset, Remitting

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Childhood-Onset, Remitting

Genetic Tests for Leukodystrophy, Childhood-Onset, Remitting

Anatomical Context for Leukodystrophy, Childhood-Onset, Remitting

Organs/tissues related to Leukodystrophy, Childhood-Onset, Remitting:

MalaCards : Brain

Publications for Leukodystrophy, Childhood-Onset, Remitting

Articles related to Leukodystrophy, Childhood-Onset, Remitting:

# Title Authors PMID Year
1
A novel remitting leukodystrophy associated with a variant in FBP2. 57
33977262 2021

Variations for Leukodystrophy, Childhood-Onset, Remitting

Expression for Leukodystrophy, Childhood-Onset, Remitting

Search GEO for disease gene expression data for Leukodystrophy, Childhood-Onset, Remitting.

Pathways for Leukodystrophy, Childhood-Onset, Remitting

GO Terms for Leukodystrophy, Childhood-Onset, Remitting

Sources for Leukodystrophy, Childhood-Onset, Remitting

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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