Leukodystrophy and Acquired Microcephaly with or Without Dystonia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616763

MeSH ⁴³ D020279

MedGen ⁴⁰ C4225213 CN235017

SNOMED-CT via HPO ⁶⁹ 128613002 192781003 224958001 more

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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

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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

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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	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)

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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

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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

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

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

MalaCards : Pons

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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	Saini AG...Vyas S	34326120	2021
2	Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. ⁵⁷ ⁵	Edvardson S...Elpeleg O	26573021	2016

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

Genes related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PLEKHG2	Pleckstrin Homology And RhoGEF Domain Containing G2	Protein Coding	1343.82	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Summaries (show sections)	34326120 26573021
2	DLL3	Delta Like Canonical Notch Ligand 3	Protein Coding	400	Pathogenic ⁵

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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

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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.

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

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

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

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

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¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LDAMD MCID: LKD024 MIFTS: 22	Leukodystrophy and Acquired Microcephaly with or Without Dystonia (LDAMD) Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leukodystrophy and Acquired Microcephaly with or Without Dystonia (LDAMD)

Aliases & Classifications for Leukodystrophy and Acquired Microcephaly with or Without...

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

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

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

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:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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

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

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

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

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

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

Genes related to Leukodystrophy and Acquired Microcephaly with or Without Dystonia (2 elite genes):

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

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

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

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

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...