LDAMD
MCID: LKD024
MIFTS: 15

Leukodystrophy and Acquired Microcephaly with or Without Dystonia (LDAMD)

Categories: Genetic diseases, Neuronal diseases

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 58 76 6
Ldamd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016)


HPO:

33
leukodystrophy and acquired microcephaly with or without dystonia:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 Leukodystrophy and acquired microcephaly with or without dystonia: An autosomal recessive neurologic disorder characterized by profound mental retardation, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy.

MalaCards based summary : Leukodystrophy and Acquired Microcephaly with or Without Dystonia, is also known as ldamd. 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 nystagmus and seizures

Description from OMIM: 616763

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

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 very rare (1%) HP:0000639
2 seizures 33 very rare (1%) HP:0001250
3 global developmental delay 33 very rare (1%) HP:0001263
4 microcephaly 33 very rare (1%) HP:0000252
5 dystonia 33 very rare (1%) HP:0001332
6 generalized hypotonia 33 very rare (1%) HP:0001290
7 intellectual disability, severe 33 HP:0010864
8 diffuse white matter abnormalities 33 HP:0007204
9 leukodystrophy 33 HP:0002415
10 postnatal microcephaly 33 HP:0005484

Symptoms via clinical synopsis from OMIM:

58
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 Head:
microcephaly, acquired (-3 sd)

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
nystagmus (2 patients)

Clinical features from OMIM:

616763

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...

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

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

42
Pons

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

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

# Title Authors Year
1
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. ( 26573021 )
2016

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

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

76
# Symbol AA change Variation ID SNP ID
1 PLEKHG2 p.Arg204Trp VAR_078577 rs201201843

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEKHG2 NM_022835.2(PLEKHG2): c.610C> T (p.Arg204Trp) single nucleotide variant Pathogenic rs201201843 GRCh37 Chromosome 19, 39907506: 39907506
2 PLEKHG2 NM_022835.2(PLEKHG2): c.610C> T (p.Arg204Trp) single nucleotide variant Pathogenic rs201201843 GRCh38 Chromosome 19, 39416866: 39416866

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...

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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35 ICD10 via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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