HDLS2
MCID: LKN034
MIFTS: 22

Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 (HDLS2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

MalaCards integrated aliases for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:

Name: Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 57 73 28 5
Leukoencephalopathy, Hereditary Diffuse, with Spheroids, Swedish Type 57 73
Hdls2 57 73
Swedish Type Hereditary Diffuse Leukoencephalopathy with Spheroids 73
Hdls-S 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
insidious onset
progressive disorder
variable manifestations
variable age at onset, usually adult
disease course can be acute and result in early death
disease course can be chronic and protracted
one large swedish family has been reported (last curated december 2021)


Classifications:



External Ids:

OMIM® 57 619661
OMIM Phenotypic Series 57 PS221820
MeSH 43 D056784

Summaries for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

OMIM®: 57 Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by Sundal et al., 2012). For a discussion of genetic heterogeneity of HDLS, see HDLS1 (221820). (619661) (Updated 08-Dec-2022)

MalaCards based summary: Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2, also known as leukoencephalopathy, hereditary diffuse, with spheroids, swedish type, is related to leukoencephalopathy, hereditary diffuse, with spheroids 1. An important gene associated with Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 is AARS1 (Alanyl-TRNA Synthetase 1). Related phenotypes are dystonia and leukoencephalopathy

UniProtKB/Swiss-Prot: 73 An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects.

Related Diseases for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Diseases in the Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 family:

Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukoencephalopathy, hereditary diffuse, with spheroids 1 10.3

Symptoms & Phenotypes for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Human phenotypes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystonia 30 Very rare (1%) HP:0001332
2 leukoencephalopathy 30 Very rare (1%) HP:0002352
3 difficulty walking 30 Very rare (1%) HP:0002355
4 rigidity 30 Very rare (1%) HP:0002063
5 hemianopia 30 Very rare (1%) HP:0012377
6 dementia 30 Very rare (1%) HP:0000726
7 personality changes 30 Very rare (1%) HP:0000751
8 sensory ataxia 30 Very rare (1%) HP:0010871
9 vegetative state 30 Very rare (1%) HP:0031358
10 grasp reflex 30 Very rare (1%) HP:0030903
11 cheyne-stokes respiration 30 Very rare (1%) HP:0012196

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
depression
anxiety
irritability
impulsivity
more
Skeletal:
arthritis

Head And Neck Eyes:
hemianopia
visual loss

Abdomen Gastrointestinal:
gastrointestinal disturbances

Neurologic Central Nervous System:
ataxia
dystonia
leukoencephalopathy
rigidity
dementia
more
Growth Weight:
weight loss
emaciation

Genitourinary Bladder:
urinary incontinence

Clinical features from OMIM®:

619661 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Search Clinical Trials, NIH Clinical Center for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Genetic Tests for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Genetic tests related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:

# Genetic test Affiliating Genes
1 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 28 AARS1

Anatomical Context for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Publications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Articles related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:

# Title Authors PMID Year
1
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. 62 57 5
31775912 2019
2
Hereditary diffuse leucoencephalopathy with spheroids. 57 5
6595937 1984
3
Update of the original HDLS kindred: divergent clinical courses. 57
22098561 2012

Variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

ClinVar genetic disease variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AARS1 NM_001605.3(AARS1):c.455G>T (p.Cys152Phe) SNV Pathogenic
1299470 GRCh37: 16:70310413-70310413
GRCh38: 16:70276510-70276510
2 AARS1 NM_001605.3(AARS1):c.961G>C (p.Gly321Arg) SNV Likely Pathogenic
1704273 GRCh37: 16:70303522-70303522
GRCh38: 16:70269619-70269619

Expression for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Search GEO for disease gene expression data for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2.

Pathways for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

GO Terms for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Sources for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

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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