Miller-Dieker Lissencephaly Syndrome (MDLS) malady

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

Aliases & Classifications for Miller-Dieker Lissencephaly Syndrome

About this section
11Disease Ontology, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome 52 11 48 24 25 70 50 13
Miller-Dieker Syndrome 11 48 24 25 54 27
Mds 11 24 25
Mdls 48 70
Lissencephaly Due to 17p13.3 Deletion 54
Classical Lissencephaly Syndrome 25
Classical Lissencephaly 68
Telomeric Deletion 17p 54
Miller Dieker Syndrome 68
Monosomy 17p13.3 54


Orphanet epidemiological data:

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


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


External Ids:

OMIM52 247200
Disease Ontology11 DOID:0060469
ICD1030 Q04.3
Orphanet54 ORPHA531
MESH via Orphanet40 D054221
UMLS via Orphanet69 C0265219
ICD10 via Orphanet31 Q04.3
MedGen37 C0265219
MeSH39 D054221

Summaries for Miller-Dieker Lissencephaly Syndrome

About this section
OMIM:52 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 seizures, seizures and Array. An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, cortex and skin.

NIH Rare Diseases:48 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:70 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:11 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

About this section

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

(show top 50)    (show all 157)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome11.9
2muscular dystrophy11.6
3walker-warburg syndrome11.4
4lissencephaly 111.3
5epidermolysis bullosa simplex with muscular dystrophy11.0
6distal 17p13.3 microdeletion syndrome10.9
7menkes disease10.8
8epidermolysa bullosa simplex with muscular dystrophy10.8
9macrocytic anemia, refractory, due to 5q deletion, somatic10.8
10muscular dystrophy, congenital10.7
11muscular dystrophy-dystroglycanopathy , type a, 110.7
12spondyloepimetaphyseal dysplasia with joint laxity, type 210.7
13lama2-related muscular dystrophy10.7
14mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.7
15ocular muscular dystrophy10.7
16ophthalmoplegic muscular dystrophy10.7
17emd-related emery-dreifuss muscular dystrophy, x-linked10.7
18leukemia, acute myelomonocytic, somatic, somatic10.7
19facioscapulohumeral muscular dystrophy 110.7
20pulmonary fibrosis and/or bone marrow failure, telomere-related, 110.7
21epidermolysis bullosa simplex with pyloric atresia10.7
22metatropic dysplasia10.7
23myelodysplasia and leukemia syndrome with monosomy 710.7
25myelodysplastic myeloproliferative cancer10.7
26hereditary lymphedema10.7
27atypical chronic myeloid leukemia10.7
28meniere's disease10.7
31right ventricular hypoplasia, isolated10.2CRK, PAFAH1B1, YWHAE
32otomycosis10.2FBXW2, LY96
33persistent vegetative state10.2PAFAH1B1, TUBA1A, YWHAE
34typhoidal tularemia10.2FBXW2, LY96
35waterhouse-friderichsen syndrome10.2CBARP, PNP
36pyloric stenosis10.1LY86, LY96
37retinitis pigmentosa10.1
40loeys-dietz syndrome10.1PAFAH1B1, PAFAH1B3, TUBA1A, YWHAE
41epithelial and subepithelial dystrophy10.1PAFAH1B1, YWHAE
42angiodysplasia10.1NDEL1, PAFAH1B1, TUBA1A
43fibrous dysplasia10.1NDEL1, PAFAH1B1, TUBA1A
44myeloid leukemia10.1
45aplastic anemia9.8
46acute leukemia9.8
47myeloproliferative neoplasm9.8
48hematopoietic stem cell transplantation9.8
49penile cancer9.8
50refractory anemia9.8

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

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

 54 64 (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy64 54 Occasional (29-5%) HP:0000112
2 abnormality of upper lip64 54 Very frequent (99-80%) HP:0000177
3 epicanthus64 54 Very frequent (99-80%) HP:0000286
4 high forehead64 54 Very frequent (99-80%) HP:0000348
5 anteverted nares64 54 Very frequent (99-80%) HP:0000463
6 sacral dimple64 54 Occasional (29-5%) HP:0000960
7 seizures64 54 Very frequent (99-80%) HP:0001250
8 ataxia64 54 Occasional (29-5%) HP:0001251
9 lissencephaly64 54 Very frequent (99-80%) HP:0001339
10 growth delay64 54 Very frequent (99-80%) HP:0001510
11 omphalocele64 54 Occasional (29-5%) HP:0001539
12 polyhydramnios64 54 Frequent (79-30%) HP:0001561
13 abnormality of the cardiovascular system64 54 Frequent (79-30%) HP:0001626
14 hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0002079
15 cerebral cortical atrophy64 54 Very frequent (99-80%) HP:0002120
16 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
17 short nose64 54 Very frequent (99-80%) HP:0003196
18 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
19 microcephaly64 HP:0000252
20 abnormal heart morphology64 HP:0001627
21 frontal bossing64 HP:0002007
22 midface retrusion64 HP:0011800
23 inguinal hernia64 HP:0000023
24 cryptorchidism64 HP:0000028
25 pelvic kidney64 HP:0000125
26 cleft palate64 HP:0000175
27 thick upper lip vermilion64 HP:0000215
28 thin upper lip vermilion64 HP:0000219
29 micrognathia64 HP:0000347
30 posteriorly rotated ears64 HP:0000358
31 low-set ears64 HP:0000369
32 wide nasal bridge64 HP:0000431
33 cataract64 HP:0000518
34 upslanted palpebral fissure64 HP:0000582
35 delayed eruption of teeth64 HP:0000684
36 single transverse palmar crease64 HP:0000954
37 intellectual disability64 HP:0001249
38 motor delay64 HP:0001270
39 pachygyria64 HP:0001302
40 failure to thrive64 HP:0001508
41 intrauterine growth retardation64 HP:0001511
42 decreased fetal movement64 HP:0001558
43 abnormality of metabolism/homeostasis64 HP:0001939
44 recurrent aspiration pneumonia64 HP:0002100
45 duodenal atresia64 HP:0002247
46 heterotopia64 HP:0002282
47 cavum septum pellucidum64 HP:0002389
48 deep palmar crease64 HP:0006191
49 progressive spastic paraplegia64 HP:0007020
50 midline brain calcifications64 HP:0007045
51 infantile muscular hypotonia64 HP:0008947
52 joint contracture of the hand64 HP:0009473
53 polydactyly64 HP:0010442
54 camptodactyly64 HP:0012385
55 infantile spasms64 HP:0012469
56 abnormality of cardiovascular system morphology64 HP:0030680

UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:


Drugs & Therapeutics for Miller-Dieker Lissencephaly Syndrome

About this section

Interventional clinical trials:

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

Genetic Tests for Miller-Dieker Lissencephaly Syndrome

About this section

Genetic tests related to Miller-Dieker Lissencephaly Syndrome:

id Genetic test Affiliating Genes
1 Miller Dieker Syndrome27
2 Miller-Dieker Syndrome24 PAFAH1B1, YWHAE

Anatomical Context for Miller-Dieker Lissencephaly Syndrome

About this section

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

Brain, Cortex, Skin, Heart, Kidney

Publications for Miller-Dieker Lissencephaly Syndrome

About this section

Articles related to Miller-Dieker Lissencephaly Syndrome:

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)
Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. (20045764)
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)
A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. (6834190)

Variations for Miller-Dieker Lissencephaly Syndrome

About this section

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

id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
113774113600000Copy numberMiller-Dieker syndrome
210677717122200000Copy numberPAFAH1B1Miller-Dieker syndrome
31068511713600000DeletionLIS1Miller-Dieker syndrome
41068661713600000MicrodeletionMiller-Dieker lissencephaly syndrome

Expression for genes affiliated with Miller-Dieker Lissencephaly Syndrome

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

Pathways for genes affiliated with Miller-Dieker Lissencephaly Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes

GO Terms for genes affiliated with Miller-Dieker Lissencephaly Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1central region of growth coneGO:009072410.6NDEL1, PAFAH1B1, YWHAE
2kinesin complexGO:000587110.4NDEL1, PAFAH1B1, YWHAE
3microtubuleGO:00058749.3HAUS1, NDEL1, PAFAH1B1, TUBA1A
4cytosolGO:00058298.2CRK, DPH1, FBXW2, GPX4, HAUS1, HIC1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lipopolysaccharide-mediated signaling pathwayGO:003166610.4LY86, LY96
2nuclear envelope disassemblyGO:005108110.4NDEL1, PAFAH1B1
3regulation of microtubule motor activityGO:200057410.3NDEL1, PAFAH1B1
4retrograde axonal transportGO:000809010.2NDEL1, PAFAH1B1
5neuron migrationGO:000176410.2NDEL1, PAFAH1B1, YWHAE
6ciliary basal body dockingGO:009771110.1HAUS1, PAFAH1B1, TUBA1A, YWHAE
7G2/M transition of mitotic cell cycleGO:000008610.1HAUS1, PAFAH1B1, TUBA1A, YWHAE
8vesicle transport along microtubuleGO:00474969.9NDEL1, PAFAH1B1

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

idNameGO IDScoreTop Affiliating Genes
1histone deacetylase bindingGO:004282610.7CAMTA2, HIC1, YWHAE
2protein bindingGO:00055156.5BHLHA9, CAMTA2, COL24A1, CRK, DPH1, FBXW2

Sources for Miller-Dieker Lissencephaly Syndrome

About this section
31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet