MCID: LKD024
MIFTS: 15

Leukodystrophy and Acquired Microcephaly with or Without Dystonia

Categories: Genetic 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 57 75 6
Ldamd 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
leukodystrophy and acquired microcephaly with or without dystonia:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 microcephaly and nystagmus

Description from OMIM: 616763

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, acquired (-3 sd)

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
nystagmus (2 patients)

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

Clinical features from OMIM:

616763

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 nystagmus 32 very rare (1%) HP:0000639
3 seizures 32 very rare (1%) HP:0001250
4 global developmental delay 32 very rare (1%) HP:0001263
5 generalized hypotonia 32 very rare (1%) HP:0001290
6 dystonia 32 very rare (1%) HP:0001332
7 leukodystrophy 32 HP:0002415
8 postnatal microcephaly 32 HP:0005484
9 diffuse white matter abnormalities 32 HP:0007204
10 intellectual disability, severe 32 HP:0010864

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:

41
Pons

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

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

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

75
# 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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