MDLS
MCID: MLL018
MIFTS: 45

Miller-Dieker Lissencephaly Syndrome (MDLS) malady

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

Aliases & Classifications for Miller-Dieker Lissencephaly Syndrome

Aliases & Descriptions for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome 54 12 50 24 25 66 52 14
Miller-Dieker Syndrome 12 50 24 25 56 29
Mds 12 24 25
Mdls 50 66
Lissencephaly Due to 17p13.3 Deletion 56
Classical Lissencephaly Syndrome 25
Classical Lissencephaly 69
Telomeric Deletion 17p 56
Miller Dieker Syndrome 69
Monosomy 17p13.3 56

Characteristics:

Orphanet epidemiological data:

56
miller-dieker syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

32
miller-dieker lissencephaly syndrome:
Inheritance autosomal dominant inheritance contiguous gene syndrome


Classifications:



External Ids:

OMIM 54 247200
Disease Ontology 12 DOID:0060469
ICD10 33 Q04.3
Orphanet 56 ORPHA531
MESH via Orphanet 43 D054221
UMLS via Orphanet 70 C0265219
ICD10 via Orphanet 34 Q04.3
MedGen 40 C0265219
MeSH 42 D054221
UMLS 69 C0265219

Summaries for Miller-Dieker Lissencephaly Syndrome

OMIM : 54 Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the... (247200) more...

MalaCards based summary : Miller-Dieker Lissencephaly Syndrome, also known as miller-dieker syndrome, is related to myelodysplastic syndrome and muscular dystrophy, and has symptoms including ataxia, seizures and eeg abnormality. An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, skin and cortex.

NIH Rare Diseases : 50 miller-dieker syndrome (mds) is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. very few affected children survive beyond childhood. mds is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p). most cases are not inherited and occur randomly. in some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent. treatment is based on the symptoms in each person and aims to prevent complications and control seizures. last updated: 5/18/2016

UniProtKB/Swiss-Prot : 66 Miller-Dieker lissencephaly syndrome: A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition.

Genetics Home Reference : 25 Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain malformations cause severe intellectual disability, developmental delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Seizures usually begin before six months of age, and some occur from birth. Typically, the smoother the surface of the brain is, the more severe the associated symptoms are.

Disease Ontology : 12 A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.

Related Diseases for Miller-Dieker Lissencephaly Syndrome

Diseases related to Miller-Dieker Lissencephaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
id Related Disease Score Top Affiliating Genes
1 myelodysplastic syndrome 11.9
2 muscular dystrophy 11.6
3 walker-warburg syndrome 11.4
4 lissencephaly 1 11.3
5 epidermolysis bullosa simplex with muscular dystrophy 11.0
6 distal 17p13.3 microdeletion syndrome 10.9
7 epidermolysa bullosa simplex with muscular dystrophy 10.8
8 menkes disease 10.8
9 macrocytic anemia, refractory, due to 5q deletion, somatic 10.8
10 muscular dystrophy, congenital 10.7
11 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 10.7
12 muscular dystrophy-dystroglycanopathy , type a, 1 10.7
13 ocular muscular dystrophy 10.7
14 ophthalmoplegic muscular dystrophy 10.7
15 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.7
16 emd-related emery-dreifuss muscular dystrophy, x-linked 10.7
17 lama2-related muscular dystrophy 10.7
18 epidermolysis bullosa simplex with pyloric atresia 10.7
19 metatropic dysplasia 10.7
20 facioscapulohumeral muscular dystrophy 1 10.7
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.7
22 hereditary lymphedema 10.7
23 meniere's disease 10.7
24 myelodysplasia and leukemia syndrome with monosomy 7 10.7
25 myelodysplastic myeloproliferative cancer 10.7
26 adrenomyodystrophy 10.7
27 leukemia, acute myelomonocytic, somatic, somatic 10.7
28 atypical chronic myeloid leukemia 10.7
29 lissencephaly 10.4
30 leukemia 10.3
31 right ventricular hypoplasia, isolated 10.2 CRK PAFAH1B1 YWHAE
32 otomycosis 10.2 FBXW2 LY96
33 persistent vegetative state 10.2 PAFAH1B1 TUBA1A YWHAE
34 typhoidal tularemia 10.2 FBXW2 LY96
35 waterhouse-friderichsen syndrome 10.2 CBARP PNP
36 pyloric stenosis 10.1 LY86 LY96
37 retinitis pigmentosa 10.1
38 polyhydramnios 10.1
39 retinitis 10.1
40 loeys-dietz syndrome 10.1 PAFAH1B1 PAFAH1B3 TUBA1A YWHAE
41 epithelial and subepithelial dystrophy 10.1 PAFAH1B1 YWHAE
42 angiodysplasia 10.1 NDEL1 PAFAH1B1 TUBA1A
43 fibrous dysplasia 10.1 NDEL1 PAFAH1B1 TUBA1A
44 myeloid leukemia 10.1
45 acute leukemia 9.8
46 aplastic anemia 9.8
47 myeloproliferative neoplasm 9.8
48 penile cancer 9.8
49 hematopoietic stem cell transplantation 9.8
50 refractory anemia 9.8

Graphical network of the top 20 diseases related to Miller-Dieker Lissencephaly Syndrome:



Diseases related to Miller-Dieker Lissencephaly Syndrome

Symptoms & Phenotypes for Miller-Dieker Lissencephaly Syndrome

Symptoms by clinical synopsis from OMIM:

247200

Clinical features from OMIM:

247200

Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
4 short nose 56 32 Very frequent (99-80%) HP:0003196
5 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
6 nephropathy 56 32 Occasional (29-5%) HP:0000112
7 abnormality of the cardiovascular system 56 32 Frequent (79-30%) HP:0001626
8 epicanthus 56 32 Very frequent (99-80%) HP:0000286
9 growth delay 56 32 Very frequent (99-80%) HP:0001510
10 cerebral cortical atrophy 56 32 Very frequent (99-80%) HP:0002120
11 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
12 polyhydramnios 56 32 Frequent (79-30%) HP:0001561
13 high forehead 56 32 Very frequent (99-80%) HP:0000348
14 sacral dimple 56 32 Occasional (29-5%) HP:0000960
15 lissencephaly 56 32 Very frequent (99-80%) HP:0001339
16 omphalocele 56 32 Occasional (29-5%) HP:0001539
17 hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0002079
18 abnormality of upper lip 56 32 Very frequent (99-80%) HP:0000177
19 low-set ears 32 HP:0000369
20 frontal bossing 32 HP:0002007
21 intellectual disability 32 HP:0001249
22 failure to thrive 32 HP:0001508
23 inguinal hernia 32 HP:0000023
24 cataract 32 HP:0000518
25 wide nasal bridge 32 HP:0000431
26 microcephaly 32 HP:0000252
27 abnormality of metabolism/homeostasis 32 HP:0001939
28 cleft palate 32 HP:0000175
29 micrognathia 32 HP:0000347
30 delayed eruption of teeth 32 HP:0000684
31 cryptorchidism 32 HP:0000028
32 intrauterine growth retardation 32 HP:0001511
33 upslanted palpebral fissure 32 HP:0000582
34 thin upper lip vermilion 32 HP:0000219
35 pelvic kidney 32 HP:0000125
36 midface retrusion 32 HP:0011800
37 decreased fetal movement 32 HP:0001558
38 pachygyria 32 HP:0001302
39 infantile spasms 32 HP:0012469
40 motor delay 32 HP:0001270
41 abnormality of cardiovascular system morphology 32 HP:0030680
42 deep palmar crease 32 HP:0006191
43 single transverse palmar crease 32 HP:0000954
44 heterotopia 32 HP:0002282
45 thick upper lip vermilion 32 HP:0000215
46 duodenal atresia 32 HP:0002247
47 camptodactyly 32 HP:0012385
48 abnormal heart morphology 32 HP:0001627
49 posteriorly rotated ears 32 HP:0000358
50 midline brain calcifications 32 HP:0007045

UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:


seizures

Drugs & Therapeutics for Miller-Dieker Lissencephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Miller-Dieker Lissencephaly Syndrome

Genetic Tests for Miller-Dieker Lissencephaly Syndrome

Genetic tests related to Miller-Dieker Lissencephaly Syndrome:

id Genetic test Affiliating Genes
1 Miller Dieker Syndrome 29
2 Miller-Dieker Syndrome 24 PAFAH1B1 YWHAE

Anatomical Context for Miller-Dieker Lissencephaly Syndrome

MalaCards organs/tissues related to Miller-Dieker Lissencephaly Syndrome:

39
Brain, Skin, Cortex, Heart, Kidney

Publications for Miller-Dieker Lissencephaly Syndrome

Articles related to Miller-Dieker Lissencephaly Syndrome:

id Title Authors Year
1
Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus. ( 20466299 )
2010
2
Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. ( 20045764 )
2009
3
Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus. ( 10828595 )
2000
4
A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. ( 6834190 )
1983

Variations for Miller-Dieker Lissencephaly Syndrome

Copy number variations for Miller-Dieker Lissencephaly Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13774 1 1 3600000 Copy number Miller-Dieker syndrome
2 106777 17 1 22200000 Copy number PAFAH1B1 Miller-Dieker syndrome
3 106851 17 1 3600000 Deletion LIS1 Miller-Dieker syndrome
4 106866 17 1 3600000 Microdeletion Miller-Dieker lissencephaly syndrome

Expression for Miller-Dieker Lissencephaly Syndrome

Search GEO for disease gene expression data for Miller-Dieker Lissencephaly Syndrome.

Pathways for Miller-Dieker Lissencephaly Syndrome

Pathways related to Miller-Dieker Lissencephaly Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.42 NDEL1 PAFAH1B1 PAFAH1B3 YWHAE

GO Terms for Miller-Dieker Lissencephaly Syndrome

Cellular components related to Miller-Dieker Lissencephaly Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.93 CRK DPH1 FBXW2 GPX4 HAUS1 HIC1
2 microtubule GO:0005874 9.56 HAUS1 NDEL1 PAFAH1B1 TUBA1A
3 kinesin complex GO:0005871 9.13 NDEL1 PAFAH1B1 YWHAE
4 central region of growth cone GO:0090724 8.8 NDEL1 PAFAH1B1 YWHAE

Biological processes related to Miller-Dieker Lissencephaly Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.61 NDEL1 PAFAH1B1 YWHAE
2 vesicle transport along microtubule GO:0047496 9.4 NDEL1 PAFAH1B1
3 retrograde axonal transport GO:0008090 9.37 NDEL1 PAFAH1B1
4 positive regulation of lipopolysaccharide-mediated signaling pathway GO:0031666 9.32 LY86 LY96
5 nuclear envelope disassembly GO:0051081 9.26 NDEL1 PAFAH1B1
6 G2/M transition of mitotic cell cycle GO:0000086 9.26 HAUS1 PAFAH1B1 TUBA1A YWHAE
7 regulation of microtubule motor activity GO:2000574 9.16 NDEL1 PAFAH1B1
8 ciliary basal body docking GO:0097711 8.92 HAUS1 PAFAH1B1 TUBA1A YWHAE

Molecular functions related to Miller-Dieker Lissencephaly Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 BHLHA9 CAMTA2 COL24A1 CRK DPH1 FBXW2
2 histone deacetylase binding GO:0042826 8.8 CAMTA2 HIC1 YWHAE

Sources for Miller-Dieker Lissencephaly Syndrome

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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