ADLD
MCID: LKD007
MIFTS: 38

Leukodystrophy, Adult-Onset, Autosomal Dominant (ADLD) malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Leukodystrophy, Adult-Onset, Autosomal Dominant

Aliases & Descriptions for Leukodystrophy, Adult-Onset, Autosomal Dominant:

Name: Leukodystrophy, Adult-Onset, Autosomal Dominant 54 24 13
Adld 12 24 56 66
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy 12 56 14
Adult-Onset Autosomal Dominant Leukodystrophy 12 56 29
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 54 69
Multiple Sclerosis-Like Disorder 24 66
Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type 24
Autosomal-Dominant or Late-Onset Type Pelizaeus-Merzbacher Disease 12
Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset 66
Pelizaeus-Merzbacher Disease Autosomal Dominant 66
Adult Onset Autosomal Dominant Leukodystrophy 69
Pelizaeus-Merzbacher Disease Late-Onset Type 66

Characteristics:

Orphanet epidemiological data:

56
adult-onset autosomal dominant leukodystrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

32
leukodystrophy, adult-onset, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



External Ids:

OMIM 54 169500
Disease Ontology 12 DOID:0060785
ICD10 33 E75.2
Orphanet 56 ORPHA99027
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 70 C3164344
MedGen 40 C1868512
MeSH 42 D020279
UMLS 69 C3164344

Summaries for Leukodystrophy, Adult-Onset, Autosomal Dominant

OMIM : 54 Autosomal dominant adult-onset demyelinating leukodystrophy is a slowly progressive and fatal disorder that presents in... (169500) more...

MalaCards based summary : Leukodystrophy, Adult-Onset, Autosomal Dominant, also known as adld, is related to autosomal dominant leukodystrophy with autonomic disease and leukodystrophy, and has symptoms including ataxia, constipation and tremor. An important gene associated with Leukodystrophy, Adult-Onset, Autosomal Dominant is LMNB1 (Lamin B1), and among its related pathways/superpathways are Apoptotic cleavage of cellular proteins and Apoptosis and Autophagy. Affiliated tissues include eye and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

Disease Ontology : 12 A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has material basis in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q.

UniProtKB/Swiss-Prot : 66 Leukodystrophy, demyelinating, autosomal dominant, adult-onset: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.

Related Diseases for Leukodystrophy, Adult-Onset, Autosomal Dominant

Diseases in the Leukodystrophy family:

Leukodystrophy, Adult-Onset, Autosomal Dominant Tubb4a-Related Leukodystrophy

Diseases related to Leukodystrophy, Adult-Onset, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autosomal dominant leukodystrophy with autonomic disease 11.4
2 leukodystrophy 10.0
3 heart-hand syndrome, slovenian type 9.9 LMNA LMNB1
4 ventricular tachycardia, catecholaminergic polymorphic, 1 9.9 LMNA LMNB1
5 parametrium malignant neoplasm 9.9 LMNA LMNB1
6 greenberg skeletal dysplasia 9.8 LMNA LMNB1
7 diffuse lipomatosis 9.8 LMNA LMNB1
8 mitochondrial complex iii deficiency, nuclear type 8 9.1 APOPT1 CTC1 HTRA1 LMNA LMNB1 YY1

Graphical network of the top 20 diseases related to Leukodystrophy, Adult-Onset, Autosomal Dominant:



Diseases related to Leukodystrophy, Adult-Onset, Autosomal Dominant

Symptoms & Phenotypes for Leukodystrophy, Adult-Onset, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

169500

Clinical features from OMIM:

169500

Human phenotypes related to Leukodystrophy, Adult-Onset, Autosomal Dominant:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 constipation 56 32 Frequent (79-30%) HP:0002019
3 tremor 56 32 Frequent (79-30%) HP:0001337
4 abnormal pyramidal signs 56 32 Frequent (79-30%) HP:0007256
5 nystagmus 56 32 Frequent (79-30%) HP:0000639
6 spasticity 56 32 Frequent (79-30%) HP:0001257
7 dysarthria 56 32 Occasional (29-5%) HP:0001260
8 gait disturbance 56 32 Frequent (79-30%) HP:0001288
9 hyperreflexia 56 32 Frequent (79-30%) HP:0001347
10 dysphagia 56 32 Occasional (29-5%) HP:0002015
11 hypotension 56 32 Frequent (79-30%) HP:0002615
12 hearing impairment 56 32 Occasional (29-5%) HP:0000365
13 global developmental delay 56 32 Occasional (29-5%) HP:0001263
14 intellectual disability, mild 56 32 Occasional (29-5%) HP:0001256
15 hypohidrosis 56 32 Occasional (29-5%) HP:0000966
16 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
17 visual loss 56 32 Occasional (29-5%) HP:0000572
18 impotence 56 32 Frequent (79-30%) HP:0000802
19 tetraparesis 56 32 Frequent (79-30%) HP:0002273
20 urinary urgency 56 32 Frequent (79-30%) HP:0000012
21 atrophy of the spinal cord 56 32 Occasional (29-5%) HP:0006827
22 corpus callosum atrophy 56 32 Occasional (29-5%) HP:0007371
23 dilatation of the bladder 56 32 Frequent (79-30%) HP:0010955
24 personality changes 32 HP:0000751
25 depression 32 HP:0000716
26 dysautonomia 32 HP:0002459
27 babinski sign 32 HP:0003487
28 abnormality of the urinary system 32 HP:0000079
29 leukodystrophy 32 HP:0002415
30 orthostatic hypotension due to autonomic dysfunction 32 HP:0004926
31 gliosis 32 HP:0002171
32 progressive neurologic deterioration 32 HP:0002344
33 autonomic bladder dysfunction 32 HP:0005341
34 peripheral demyelination 32 HP:0011096
35 pseudobulbar paralysis 32 HP:0007024
36 diffuse leukoencephalopathy 32 HP:0006994
37 symmetric peripheral demyelination 32 HP:0007262
38 decreased sweating due to autonomic dysfunction 32 HP:0007480
39 autonomic erectile dysfunction 32 HP:0008652

UMLS symptoms related to Leukodystrophy, Adult-Onset, Autosomal Dominant:


cerebellar ataxia, muscle spasticity, abnormal pyramidal signs, personality changes

GenomeRNAi Phenotypes related to Leukodystrophy, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.23 LMNA LMNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.23 LMNA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.23 LMNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.23 LMNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.23 LMNB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.23 LMNB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.23 LMNA

MGI Mouse Phenotypes related to Leukodystrophy, Adult-Onset, Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 YY1 CTC1 HTRA1 LMNA LMNB1
2 integument MP:0010771 8.92 CTC1 LMNA LMNB1 YY1

Drugs & Therapeutics for Leukodystrophy, Adult-Onset, Autosomal Dominant

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Leukodystrophy, Adult-Onset, Autosomal Dominant

Genetic Tests for Leukodystrophy, Adult-Onset, Autosomal Dominant

Genetic tests related to Leukodystrophy, Adult-Onset, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Leukodystrophy, Adult-Onset, Autosomal Dominant 29 24 LMNB1

Anatomical Context for Leukodystrophy, Adult-Onset, Autosomal Dominant

MalaCards organs/tissues related to Leukodystrophy, Adult-Onset, Autosomal Dominant:

39
Eye, Spinal Cord

Publications for Leukodystrophy, Adult-Onset, Autosomal Dominant

Variations for Leukodystrophy, Adult-Onset, Autosomal Dominant

ClinVar genetic disease variations for Leukodystrophy, Adult-Onset, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNB1 LMNB1, DUP, CHR5: 126,102,443-126,199,753 SRO, GRCh37 duplication Pathogenic

Expression for Leukodystrophy, Adult-Onset, Autosomal Dominant

Search GEO for disease gene expression data for Leukodystrophy, Adult-Onset, Autosomal Dominant.

Pathways for Leukodystrophy, Adult-Onset, Autosomal Dominant

GO Terms for Leukodystrophy, Adult-Onset, Autosomal Dominant

Cellular components related to Leukodystrophy, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 9.16 LMNA LMNB1
2 nuclear matrix GO:0016363 8.96 LMNB1 YY1
3 lamin filament GO:0005638 8.62 LMNA LMNB1

Sources for Leukodystrophy, Adult-Onset, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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