LDAMD
MCID: LKD024
MIFTS: 16

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 57 74 6
Ldamd 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 616763
MeSH 44 D020279

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

UniProtKB/Swiss-Prot : 74 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

More information 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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
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
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization. 8 71
26573021 2016

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLEKHG2 NM_022835.3(PLEKHG2): c.610C> T (p.Arg204Trp) single nucleotide variant Pathogenic rs201201843 19:39907506-39907506 19:39416866-39416866
2 PLEKHG2 NM_022835.3(PLEKHG2): c.1042A> G (p.Lys348Glu) single nucleotide variant Uncertain significance 19:39908704-39908704 19:39418064-39418064

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

74
# 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....