LDAMD
MCID: LKD024
MIFTS: 21

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 56 73 29 6
Ldamd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
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 : 73 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, also known as ldamd, is related to leukodystrophy and 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 seizures 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 leukodystrophy 9.4 PLEKHG2 DLL3
2 spondylocostal dysostosis 1, autosomal recessive 9.2 PLEKHG2 DLL3

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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 nystagmus 31 very rare (1%) HP:0000639
3 global developmental delay 31 very rare (1%) HP:0001263
4 microcephaly 31 very rare (1%) HP:0000252
5 generalized hypotonia 31 very rare (1%) HP:0001290
6 dystonia 31 very rare (1%) HP:0001332
7 intellectual disability, severe 31 HP:0010864
8 profound global developmental delay 31 HP:0012736
9 diffuse white matter abnormalities 31 HP:0007204
10 leukodystrophy 31 HP:0002415
11 postnatal microcephaly 31 HP:0005484

Symptoms via clinical synopsis from OMIM:

56
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...

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 29 PLEKHG2

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

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

40
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. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DLL3 , PLEKHG2 NM_203486.3(DLL3):c.594_598GCGGT[3] (p.Pro202fs)short repeat Pathogenic 6828 rs786200899 19:39993644-39993648 19:39502998-39502999
2 PLEKHG2 NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)SNV Pathogenic 522394 rs201201843 19:39907506-39907506 19:39416866-39416866
3 PLEKHG2 NM_022835.3(PLEKHG2):c.1042A>G (p.Lys348Glu)SNV Uncertain significance 638339 19:39908704-39908704 19:39418064-39418064
4 DLL3 , PLEKHG2 NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)SNV Benign 41378 rs8107127 19:39993560-39993560 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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