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 ⁵⁷ ⁷³ ²⁸ ⁵ ³⁸

Hld18 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

HPO:

³⁰

leukodystrophy, hypomyelinating, 18:
Onset and clinical course variable expressivity progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

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Summaries for Leukodystrophy, Hypomyelinating, 18

OMIM®: ⁵⁷ 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) (Updated 08-Dec-2022)

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 cerebellum, brain and eye, and related phenotypes are seizure and spasticity

UniProtKB/Swiss-Prot: ⁷³ 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
Leukodystrophy, Hypomyelinating, 20	Leukodystrophy, Hypomyelinating, 21
Leukodystrophy, Hypomyelinating, 22	Leukodystrophy, Hypomyelinating, 24

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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 18

Human phenotypes related to Leukodystrophy, Hypomyelinating, 18:

³⁰ (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	seizure ³⁰	Very rare (1%)	HP:0001250
2	spasticity ³⁰	Very rare (1%)	HP:0001257
3	failure to thrive ³⁰	Very rare (1%)	HP:0001508
4	nystagmus ³⁰	Very rare (1%)	HP:0000639
5	global developmental delay ³⁰	Very rare (1%)	HP:0001263
6	decreased nerve conduction velocity ³⁰	Very rare (1%)	HP:0000762
7	absent speech ³⁰	Very rare (1%)	HP:0001344
8	gastrostomy tube feeding in infancy ³⁰	Very rare (1%)	HP:0011471
9	demyelinating peripheral neuropathy ³⁰	Very rare (1%)	HP:0007108
10	abnormal motor nerve conduction velocity ³⁰	Very rare (1%)	HP:0040131
11	secondary microcephaly ³⁰	Very rare (1%)	HP:0005484
12	scoliosis ³⁰		HP:0002650
13	dysarthria ³⁰		HP:0001260
14	flexion contracture ³⁰		HP:0001371
15	spastic tetraplegia ³⁰		HP:0002510
16	dysmetria ³⁰		HP:0001310
17	dystonia ³⁰		HP:0001332
18	severe global developmental delay ³⁰		HP:0011344
19	progressive spasticity ³⁰		HP:0002191
20	babinski sign ³⁰		HP:0003487
21	cerebellar atrophy ³⁰		HP:0001272
22	atrophy/degeneration affecting the brainstem ³⁰		HP:0007366
23	abnormal periventricular white matter morphology ³⁰		HP:0002518

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth Other:
failure to thrive

Head And Neck Eyes:
nystagmus
abnormal eye movements

Muscle Soft Tissue:
hypertonia
neurogenic atrophy seen on muscle biopsy

Skeletal:
joint contractures

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

Skeletal Spine:
scoliosis

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

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

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 (Updated 08-Dec-2022)

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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 ²⁸	DEGS1

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Anatomical Context for Leukodystrophy, Hypomyelinating, 18

Organs/tissues related to Leukodystrophy, Hypomyelinating, 18:

MalaCards : Cerebellum, Brain, 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. ⁵⁷ ⁵	Dolgin V...Birk OS	31186544	2019
2	Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. ⁵⁷ ⁵	Pant DC...Pujol A	30620337	2019
3	DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. ⁵⁷ ⁵	Karsai G...Kurth I	30620338	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	PubMed IDs
1	DEGS1	Delta 4-Desaturase, Sphingolipid 1	Protein Coding	1332.82	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	30620337 31186544 30620338

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Variations for Leukodystrophy, Hypomyelinating, 18

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 18:

⁵ (show all 13)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DEGS1	NM_003676.4(DEGS1):c.341_342del (p.Leu114fs)	DEL	Pathogenic	626327	rs1558209947	GRCh37: 1:224377537-224377538 GRCh38: 1:224189835-224189836
2	DEGS1	NM_003676.4(DEGS1):c.604del (p.Tyr202fs)	DEL	Pathogenic	626328	rs1558210191	GRCh37: 1:224377799-224377799 GRCh38: 1:224190097-224190097
3	DEGS1	NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)	DEL	Pathogenic	1172541		GRCh37: 1:224380060-224380063 GRCh38: 1:224192358-224192361
4	DEGS1	NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)	SNV	Pathogenic	625852	rs768180196	GRCh37: 1:224377960-224377960 GRCh38: 1:224190258-224190258
5	DEGS1	NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)	SNV	Likely Pathogenic	626329	rs1280845604	GRCh37: 1:224377533-224377533 GRCh38: 1:224189831-224189831
6	DEGS1	NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)	SNV	Likely Pathogenic	626330	rs1382083552	GRCh37: 1:224377516-224377516 GRCh38: 1:224189814-224189814
7	DEGS1	NM_003676.4(DEGS1):c.839C>T (p.Ala280Val)	SNV	Likely Pathogenic	626324	rs1558211070	GRCh37: 1:224380047-224380047 GRCh38: 1:224192345-224192345
8	DEGS1	NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)	SNV	Likely Pathogenic	805858	rs932183417	GRCh37: 1:224377713-224377713 GRCh38: 1:224190011-224190011
9	DEGS1	NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp)	SNV	Likely Pathogenic	805859	rs1367958450	GRCh37: 1:224377593-224377593 GRCh38: 1:224189891-224189891
10	DEGS1	NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp)	SNV	Conflicting Interpretations Of Pathogenicity	805860	rs771864122	GRCh37: 1:224377761-224377761 GRCh38: 1:224190059-224190059
11	DEGS1	NM_003676.4(DEGS1):c.395A>G (p.His132Arg)	SNV	Uncertain Significance	626325	rs1558209997	GRCh37: 1:224377591-224377591 GRCh38: 1:224189889-224189889
12	DEGS1	NM_003676.4(DEGS1):c.110T>C (p.Met37Thr)	SNV	Uncertain Significance	805856	rs1388884067	GRCh37: 1:224377306-224377306 GRCh38: 1:224189604-224189604
13	DEGS1	NM_003676.4(DEGS1):c.878G>A (p.Trp293Ter)	SNV	Uncertain Significance	805857	rs1572045183	GRCh37: 1:224380086-224380086 GRCh38: 1:224192384-224192384

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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⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷⁴ WikiPathways

⁷⁵ Wikipedia

HLD18 MCID: LKD031 MIFTS: 26	Leukodystrophy, Hypomyelinating, 18 (HLD18) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Leukodystrophy, Hypomyelinating, 18 (HLD18)

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 18

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 18:

Characteristics:

Inheritance:

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

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