LDAMD
MCID: LKD024
MIFTS: 22

Leukodystrophy and Acquired Microcephaly with or Without Dystonia (LDAMD)

Categories: Genetic diseases
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Aliases & Classifications for Leukodystrophy and Acquired Microcephaly with or Without...

MalaCards integrated aliases for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:

Name: Leukodystrophy and Acquired Microcephaly with or Without Dystonia 57 73 38
Leukodystrophy and Acquired Microcephaly with or Without Dystonia; 28 5
Ldamd 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016)


Classifications:



Summaries for Leukodystrophy and Acquired Microcephaly with or Without...

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurologic disorder characterized by profound intellectual disability, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy.

MalaCards based summary: Leukodystrophy and Acquired Microcephaly with or Without Dystonia, also known as leukodystrophy and acquired microcephaly with or without dystonia;, is related to spondylocostal dysostosis 1, autosomal recessive. An important gene associated with Leukodystrophy and Acquired Microcephaly with or Without Dystonia is PLEKHG2 (Pleckstrin Homology And RhoGEF Domain Containing G2). Affiliated tissues include pons, and related phenotypes are seizure and nystagmus

More information from OMIM: 616763

Related Diseases for Leukodystrophy and Acquired Microcephaly with or Without...

Diseases related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 1, autosomal recessive 9.5 PLEKHG2 DLL3

Symptoms & Phenotypes for Leukodystrophy and Acquired Microcephaly with or Without...

Human phenotypes related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 nystagmus 30 Very rare (1%) HP:0000639
3 global developmental delay 30 Very rare (1%) HP:0001263
4 microcephaly 30 Very rare (1%) HP:0000252
5 dystonia 30 Very rare (1%) HP:0001332
6 generalized hypotonia 30 Very rare (1%) HP:0001290
7 intellectual disability, severe 30 HP:0010864
8 profound global developmental delay 30 HP:0012736
9 leukodystrophy 30 HP:0002415
10 diffuse white matter abnormalities 30 HP:0007204
11 secondary microcephaly 30 HP:0005484

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, acquired (-3 sd)

Neurologic Central Nervous System:
leukodystrophy
mental retardation, severe
seizures (1 patient)
global developmental delay, profound
dystonic posturing, intermittent (in some patients)
more
Head And Neck Eyes:
nystagmus (2 patients)

Clinical features from OMIM®:

616763 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy and Acquired Microcephaly with or Without...

Search Clinical Trials, NIH Clinical Center for Leukodystrophy and Acquired Microcephaly with or Without Dystonia

Genetic Tests for Leukodystrophy and Acquired Microcephaly with or Without...

Genetic tests related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:

# Genetic test Affiliating Genes
1 Leukodystrophy and Acquired Microcephaly with or Without Dystonia; 28 PLEKHG2

Anatomical Context for Leukodystrophy and Acquired Microcephaly with or Without...

Organs/tissues related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:

MalaCards : Pons

Publications for Leukodystrophy and Acquired Microcephaly with or Without...

Articles related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia:

# Title Authors PMID Year
1
PLEKHG2-associated neurological disorder. 57 5
34326120 2021
2
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. 57 5
26573021 2016

Variations for Leukodystrophy and Acquired Microcephaly with or Without...

ClinVar genetic disease variations for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:

5 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEKHG2, DLL3 NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) MICROSAT Pathogenic
6828 rs786200899 GRCh37: 19:39993644-39993648
GRCh38: 19:39502998-39502999
2 PLEKHG2 NM_022835.3(PLEKHG2):c.995G>T (p.Gly332Val) SNV Pathogenic
1601166 GRCh37: 19:39908657-39908657
GRCh38: 19:39418017-39418017
3 PLEKHG2 NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) SNV Likely Pathogenic
522394 rs201201843 GRCh37: 19:39907506-39907506
GRCh38: 19:39416866-39416866
4 PLEKHG2 NM_022835.3(PLEKHG2):c.3007G>A (p.Ala1003Thr) SNV Uncertain Significance
982660 rs372208970 GRCh37: 19:39914780-39914780
GRCh38: 19:39424140-39424140
5 PLEKHG2 NM_022835.3(PLEKHG2):c.2543G>A (p.Arg848Gln) SNV Uncertain Significance
1029862 rs199844800 GRCh37: 19:39914237-39914237
GRCh38: 19:39423597-39423597
6 PLEKHG2 NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile) SNV Uncertain Significance
1029863 rs144287050 GRCh37: 19:39914819-39914819
GRCh38: 19:39424179-39424179
7 PLEKHG2 NM_022835.3(PLEKHG2):c.4012A>G (p.Thr1338Ala) SNV Uncertain Significance
1029864 rs2078765401 GRCh37: 19:39915785-39915785
GRCh38: 19:39425145-39425145
8 PLEKHG2 NM_022835.3(PLEKHG2):c.4039G>A (p.Gly1347Arg) SNV Uncertain Significance
1029865 rs374916077 GRCh37: 19:39915812-39915812
GRCh38: 19:39425172-39425172
9 PLEKHG2 NM_022835.3(PLEKHG2):c.3569A>T (p.Gln1190Leu) SNV Uncertain Significance
1031349 rs764066772 GRCh37: 19:39915342-39915342
GRCh38: 19:39424702-39424702
10 PLEKHG2 NM_022835.3(PLEKHG2):c.1046G>A (p.Arg349His) SNV Uncertain Significance
1034014 rs956539284 GRCh37: 19:39908708-39908708
GRCh38: 19:39418068-39418068
11 PLEKHG2 NM_022835.3(PLEKHG2):c.112C>T (p.Pro38Ser) SNV Uncertain Significance
1034015 rs767924564 GRCh37: 19:39905634-39905634
GRCh38: 19:39414994-39414994
12 PLEKHG2 NM_022835.3(PLEKHG2):c.1358C>T (p.Pro453Leu) SNV Uncertain Significance
1034016 rs34975345 GRCh37: 19:39911451-39911451
GRCh38: 19:39420811-39420811
13 PLEKHG2 NM_022835.3(PLEKHG2):c.1426C>T (p.Arg476Cys) SNV Uncertain Significance
1034018 rs867114386 GRCh37: 19:39911615-39911615
GRCh38: 19:39420975-39420975
14 PLEKHG2 NM_022835.3(PLEKHG2):c.1677+5G>A SNV Uncertain Significance
1034019 rs370089865 GRCh37: 19:39912933-39912933
GRCh38: 19:39422293-39422293
15 PLEKHG2 NM_022835.3(PLEKHG2):c.2998C>A (p.Pro1000Thr) SNV Uncertain Significance
1034020 rs758892992 GRCh37: 19:39914771-39914771
GRCh38: 19:39424131-39424131
16 PLEKHG2 NM_022835.3(PLEKHG2):c.3202G>A (p.Asp1068Asn) SNV Uncertain Significance
1034021 rs2078749579 GRCh37: 19:39914975-39914975
GRCh38: 19:39424335-39424335
17 PLEKHG2 NM_022835.3(PLEKHG2):c.3272G>A (p.Gly1091Asp) SNV Uncertain Significance
1299695 GRCh37: 19:39915045-39915045
GRCh38: 19:39424405-39424405
18 PLEKHG2 NM_022835.3(PLEKHG2):c.2188G>A (p.Ala730Thr) SNV Uncertain Significance
1299696 rs140550857 GRCh37: 19:39913882-39913882
GRCh38: 19:39423242-39423242
19 PLEKHG2 NM_022835.3(PLEKHG2):c.1042A>G (p.Lys348Glu) SNV Uncertain Significance
638339 rs1600652197 GRCh37: 19:39908704-39908704
GRCh38: 19:39418064-39418064
20 PLEKHG2 NM_022835.3(PLEKHG2):c.2599+15C>T SNV Benign
1165033 GRCh37: 19:39914308-39914308
GRCh38: 19:39423668-39423668
21 PLEKHG2 NM_022835.3(PLEKHG2):c.378+3A>G SNV Benign
1165759 GRCh37: 19:39905903-39905903
GRCh38: 19:39415263-39415263
22 PLEKHG2 NM_022835.3(PLEKHG2):c.480-3T>C SNV Benign
1165760 GRCh37: 19:39906985-39906985
GRCh38: 19:39416345-39416345
23 PLEKHG2 NM_022835.3(PLEKHG2):c.528C>T (p.Ala176=) SNV Benign
1165761 GRCh37: 19:39907036-39907036
GRCh38: 19:39416396-39416396
24 PLEKHG2 NM_022835.3(PLEKHG2):c.912C>T (p.Thr304=) SNV Benign
1165762 GRCh37: 19:39908574-39908574
GRCh38: 19:39417934-39417934
25 PLEKHG2 NM_022835.3(PLEKHG2):c.2975G>A (p.Arg992Lys) SNV Benign
1165763 GRCh37: 19:39914748-39914748
GRCh38: 19:39424108-39424108
26 PLEKHG2 NM_022835.3(PLEKHG2):c.3864G>A (p.Gln1288=) SNV Benign
1165764 GRCh37: 19:39915637-39915637
GRCh38: 19:39424997-39424997
27 PLEKHG2 NM_022835.3(PLEKHG2):c.3985C>G (p.Pro1329Ala) SNV Benign
1165765 GRCh37: 19:39915758-39915758
GRCh38: 19:39425118-39425118
28 PLEKHG2 NM_022835.3(PLEKHG2):c.1940G>A (p.Arg647His) SNV Benign
1166483 GRCh37: 19:39913634-39913634
GRCh38: 19:39422994-39422994
29 PLEKHG2, DLL3 NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) SNV Benign
41378 rs8107127 GRCh37: 19:39993560-39993560
GRCh38: 19:39502920-39502920

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy and Acquired Microcephaly with or Without Dystonia:

73
# Symbol AA change Variation ID SNP ID
1 PLEKHG2 p.Arg204Trp VAR_078577 rs201201843

Expression for Leukodystrophy and Acquired Microcephaly with or Without...

Search GEO for disease gene expression data for Leukodystrophy and Acquired Microcephaly with or Without Dystonia.

Pathways for Leukodystrophy and Acquired Microcephaly with or Without...

GO Terms for Leukodystrophy and Acquired Microcephaly with or Without...

Sources for Leukodystrophy and Acquired Microcephaly with or Without...

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
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35 IUPHAR
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38 LOVD
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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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