Leukodystrophy, Hypomyelinating, 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 18

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 18:

Name: Leukodystrophy, Hypomyelinating, 18 ⁵⁶ ⁷³ ²⁹ ⁶

Hld18 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
early death may occur
onset in first months or years of life

HPO:

³¹

leukodystrophy, hypomyelinating, 18:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618404

OMIM Phenotypic Series ⁵⁶ PS312080

MeSH ⁴³ D020279

MedGen ⁴¹ C5193078 CN258344

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Summaries for Leukodystrophy, Hypomyelinating, 18

OMIM : ⁵⁶ Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (618404)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 18, is also known as hld18. An important gene associated with Leukodystrophy, Hypomyelinating, 18 is DEGS1 (Delta 4-Desaturase, Sphingolipid 1). Affiliated tissues include brain, cerebellum and eye, and related phenotypes are global developmental delay and failure to thrive

UniProtKB/Swiss-Prot : ⁷³ Leukodystrophy, hypomyelinating, 18: An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive.

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Related Diseases for Leukodystrophy, Hypomyelinating, 18

Diseases in the Hypomyelinating Leukodystrophy family:

Leukodystrophy, Hypomyelinating, 3	Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 5	Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 6	Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Hypomyelinating, 10	Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Hypomyelinating, 12	Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Hypomyelinating, 14	Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, Hypomyelinating, 16	Leukodystrophy, Hypomyelinating, 17
Leukodystrophy, Hypomyelinating, 18	Leukodystrophy, Hypomyelinating, 19, Transient Infantile

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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 18

Human phenotypes related to Leukodystrophy, Hypomyelinating, 18:

³¹ (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³¹	very rare (1%)	HP:0001263
2	failure to thrive ³¹	very rare (1%)	HP:0001508
3	spasticity ³¹	very rare (1%)	HP:0001257
4	nystagmus ³¹	very rare (1%)	HP:0000639
5	decreased nerve conduction velocity ³¹	very rare (1%)	HP:0000762
6	absent speech ³¹	very rare (1%)	HP:0001344
7	postnatal microcephaly ³¹	very rare (1%)	HP:0005484
8	gastrostomy tube feeding in infancy ³¹	very rare (1%)	HP:0011471
9	demyelinating peripheral neuropathy ³¹	very rare (1%)	HP:0007108
10	abnormal motor nerve conduction velocity ³¹	very rare (1%)	HP:0040131
11	seizure ³¹	very rare (1%)	HP:0001250
12	scoliosis ³¹		HP:0002650
13	flexion contracture ³¹		HP:0001371
14	spastic tetraplegia ³¹		HP:0002510
15	dysarthria ³¹		HP:0001260
16	dysmetria ³¹		HP:0001310
17	dystonia ³¹		HP:0001332
18	severe global developmental delay ³¹		HP:0011344
19	progressive spasticity ³¹		HP:0002191
20	babinski sign ³¹		HP:0003487
21	cerebellar atrophy ³¹		HP:0001272
22	abnormality of the periventricular white matter ³¹		HP:0002518
23	atrophy/degeneration affecting the brainstem ³¹		HP:0007366

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Spine:
scoliosis

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Skeletal:
joint contractures

Head And Neck Head:
acquired microcephaly (in some patients)

Muscle Soft Tissue:
hypertonia
neurogenic atrophy seen on muscle biopsy

Neurologic Central Nervous System:
spastic tetraplegia
dysarthria
dysmetria
dystonia
cerebellar atrophy
more

Head And Neck Eyes:
nystagmus
abnormal eye movements

Neurologic Peripheral Nervous System:
decreased nerve conduction velocities (in some patients)
demyelinating peripheral neuropathy (in some patients)
sural nerve biopsy shows thin myelin sheaths

Laboratory Abnormalities:
increased plasma dihydroceramide (dhcer)

Clinical features from OMIM:

618404

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Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 18

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 18

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Genetic Tests for Leukodystrophy, Hypomyelinating, 18

Genetic tests related to Leukodystrophy, Hypomyelinating, 18:

#	Genetic test	Affiliating Genes
1	Leukodystrophy, Hypomyelinating, 18 ²⁹

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Anatomical Context for Leukodystrophy, Hypomyelinating, 18

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 18:

⁴⁰

Brain, Cerebellum, Eye

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Publications for Leukodystrophy, Hypomyelinating, 18

Articles related to Leukodystrophy, Hypomyelinating, 18:

#	Title	Authors	PMID	Year
1	DEGS1 variant causes neurological disorder. ⁵⁶ ⁶	Dolgin V...Birk OS	31186544	2019
2	DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. ⁶ ⁵⁶	Karsai G...Kurth I	30620338	2019
3	Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. ⁵⁶ ⁶	Pant DC...Pujol A	30620337	2019

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Genes for Leukodystrophy, Hypomyelinating, 18

Genes related to Leukodystrophy, Hypomyelinating, 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DEGS1	Delta 4-Desaturase, Sphingolipid 1	Protein Coding	1218.35	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	30620338 30620337 31186544

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Variations for Leukodystrophy, Hypomyelinating, 18

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 18:

⁶ (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DEGS1	NM_003676.4(DEGS1):c.341_342del (p.Leu114fs)	deletion	Pathogenic	626327	rs1558209947	1:224377537-224377538	1:224189835-224189836
2	DEGS1	NM_003676.4(DEGS1):c.604del (p.Tyr202fs)	deletion	Pathogenic	626328	rs1558210191	1:224377799-224377799	1:224190097-224190097
3	DEGS1	NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)	SNV	Pathogenic	625852	rs768180196	1:224377960-224377960	1:224190258-224190258
4	DEGS1	NM_001321541.2(DEGS1):c.*37C>T	SNV	Likely pathogenic	626324	rs1558211070	1:224380047-224380047	1:224192345-224192345
5	DEGS1	NM_001321541.2(DEGS1):c.337A>G (p.Asn113Asp)	SNV	Likely pathogenic	626329	rs1280845604	1:224377533-224377533	1:224189831-224189831
6	DEGS1	NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)	SNV	Likely pathogenic	626330	rs1382083552	1:224377516-224377516	1:224189814-224189814
7	DEGS1	NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp)	SNV	Likely pathogenic	805859		1:224377593-224377593	1:224189891-224189891
8	DEGS1	NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)	SNV	Likely pathogenic	805858		1:224377713-224377713	1:224190011-224190011
9	DEGS1	NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp)	SNV	Uncertain significance	805860		1:224377761-224377761	1:224190059-224190059
10	DEGS1	NM_003676.4(DEGS1):c.878G>A (p.Trp293Ter)	SNV	Uncertain significance	805857		1:224380086-224380086	1:224192384-224192384
11	DEGS1	NM_003676.4(DEGS1):c.110T>C (p.Met37Thr)	SNV	Uncertain significance	805856		1:224377306-224377306	1:224189604-224189604
12	DEGS1	NM_003676.4(DEGS1):c.395A>G (p.His132Arg)	SNV	Uncertain significance	626325	rs1558209997	1:224377591-224377591	1:224189889-224189889

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 18:

⁷³

#	Symbol	AA change	Variation ID
1	DEGS1	p.Asn113Asp	VAR_082596
2	DEGS1	p.Arg133Trp	VAR_082598
3	DEGS1	p.Asn255Ser	VAR_082601
4	DEGS1	p.Ala280Val	VAR_082602

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Expression for Leukodystrophy, Hypomyelinating, 18

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 18.

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Pathways for Leukodystrophy, Hypomyelinating, 18

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GO Terms for Leukodystrophy, Hypomyelinating, 18

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Sources for Leukodystrophy, Hypomyelinating, 18

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Leukodystrophy, Hypomyelinating, 18 (HLD18)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 18

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 18:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leukodystrophy, Hypomyelinating, 18

Related Diseases for Leukodystrophy, Hypomyelinating, 18

Diseases in the Hypomyelinating Leukodystrophy family:

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 18

Human phenotypes related to Leukodystrophy, Hypomyelinating, 18:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 18

Genetic Tests for Leukodystrophy, Hypomyelinating, 18

Genetic tests related to Leukodystrophy, Hypomyelinating, 18:

Anatomical Context for Leukodystrophy, Hypomyelinating, 18

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 18:

Publications for Leukodystrophy, Hypomyelinating, 18

Articles related to Leukodystrophy, Hypomyelinating, 18:

Genes for Leukodystrophy, Hypomyelinating, 18

Genes related to Leukodystrophy, Hypomyelinating, 18 (1 elite genes):

Variations for Leukodystrophy, Hypomyelinating, 18

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 18:

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 18:

Expression for Leukodystrophy, Hypomyelinating, 18

Pathways for Leukodystrophy, Hypomyelinating, 18

GO Terms for Leukodystrophy, Hypomyelinating, 18

Sources for Leukodystrophy, Hypomyelinating, 18