Miller-Dieker Lissencephaly Syndrome malady

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

Aliases & Classifications for Miller-Dieker Lissencephaly Syndrome

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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
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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

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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 intellectual disability, motor delay and epicanthus. An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are IGF1 pathway and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, cortex and skin.

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.

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.

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

Related Diseases for Miller-Dieker Lissencephaly Syndrome

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

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome11.9
2muscular dystrophy11.5
3lissencephaly 111.3
4epidermolysis bullosa simplex with muscular dystrophy11.0
5distal 17p13.3 microdeletion syndrome10.9
6muscular dystrophy-dystroglycanopathy , type a, 110.9
7macrocytic anemia, refractory, due to 5q deletion, somatic10.8
8menkes disease10.8
9epidermolysa bullosa simplex with muscular dystrophy10.8
10leukemia, acute myelomonocytic, somatic, somatic10.7
11muscular dystrophy, congenital10.7
12reynolds syndrome10.7
13facioscapulohumeral muscular dystrophy 110.7
14pulmonary fibrosis and/or bone marrow failure, telomere-related, 110.7
15epidermolysis bullosa simplex with pyloric atresia10.7
16metatropic dysplasia10.7
17spondyloepimetaphyseal dysplasia with joint laxity, type 210.7
18myelodysplasia and leukemia syndrome with monosomy 710.7
20atypical chronic myeloid leukemia10.7
21meniere's disease10.7
22lama2-related muscular dystrophy10.7
23mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.7
24ocular muscular dystrophy10.7
25ophthalmoplegic muscular dystrophy10.7
26emd-related emery-dreifuss muscular dystrophy, x-linked10.7
27subaortic stenosis, membranous10.7PAFAH1B1, YWHAE
28adenoiditis10.5FBXW2, LY96
29epithelial and subepithelial dystrophy10.5CRK, PAFAH1B1, YWHAE
30glandular tularemia10.5FBXW2, LY96
31hypertrophic pyloric stenosis10.5LY86, LY96
33urethritis10.4LY86, LY96
34gerstmann syndrome10.4GPX4, LY96
35hyperlucent lung10.4LY86, LY96
36hyperphosphatemia10.4PAFAH1B1, TUBA1A, YWHAE
37infant botulism10.3FBXW2, LY96
39gastric antral vascular ectasia10.2NDEL1, PAFAH1B1, TUBA1A
40typhoidal tularemia10.2FBXW2, LY96
41retinitis pigmentosa10.1
44pseudopelade of brocq10.1PAFAH1B1, TUBA1A
45myeloid leukemia10.1
46aplastic anemia9.8
47acute leukemia9.8
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

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

 64 54 (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability64 obligate (100%) HP:0001249
2 motor delay64 obligate (100%) HP:0001270
3 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
4 high forehead64 54 hallmark (90%) Very frequent (99-80%) HP:0000348
5 posteriorly rotated ears64 hallmark (90%) HP:0000358
6 anteverted nares64 54 hallmark (90%) Very frequent (99-80%) HP:0000463
7 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
8 frontal bossing64 hallmark (90%) HP:0002007
9 cerebral cortical atrophy64 54 hallmark (90%) Very frequent (99-80%) HP:0002120
10 eeg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0002353
11 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
12 polyhydramnios64 54 typical (50%) Frequent (79-30%) HP:0001561
13 abnormality of the cardiovascular system64 54 typical (50%) Frequent (79-30%) HP:0001626
14 lissencephaly64 54 27% Very frequent (99-80%) HP:0001339
15 micrognathia64 26% HP:0000347
16 thick upper lip vermilion64 25% HP:0000215
17 wide nasal bridge64 24% HP:0000431
18 microcephaly64 17% HP:0000252
19 hypoplasia of the corpus callosum64 54 17% Occasional (29-5%) HP:0002079
20 cavum septum pellucidum64 17% HP:0002389
21 low-set ears64 14% HP:0000369
22 sacral dimple64 54 14% Occasional (29-5%) HP:0000960
23 deep palmar crease64 14% HP:0006191
24 midline brain calcifications64 13% HP:0007045
25 clinodactyly of the 5th finger64 54 10% Occasional (29-5%) HP:0004209
26 intrauterine growth retardation64 8% HP:0001511
27 nephropathy64 54 occasional (7.5%) Occasional (29-5%) HP:0000112
28 omphalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0001539
29 incoordination64 occasional (7.5%) HP:0002311
30 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
31 joint contracture of the hand64 6% HP:0009473
32 abnormality of cardiovascular system morphology64 6% HP:0030680
33 single transverse palmar crease64 rare (5%) HP:0000954
34 abnormal heart morphology64 HP:0001627
35 midface retrusion64 HP:0011800
36 inguinal hernia64 HP:0000023
37 cryptorchidism64 HP:0000028
38 pelvic kidney64 HP:0000125
39 cleft palate64 HP:0000175
40 thin upper lip vermilion64 HP:0000219
41 cataract64 HP:0000518
42 upslanted palpebral fissure64 HP:0000582
43 delayed eruption of teeth64 HP:0000684
44 pachygyria64 HP:0001302
45 failure to thrive64 HP:0001508
46 decreased fetal movement64 HP:0001558
47 abnormality of metabolism/homeostasis64 HP:0001939
48 recurrent aspiration pneumonia64 HP:0002100
49 duodenal atresia64 HP:0002247
50 heterotopia64 HP:0002282
51 progressive spastic paraplegia64 HP:0007020
52 infantile muscular hypotonia64 HP:0008947
53 polydactyly64 HP:0010442
54 camptodactyly64 HP:0012385
55 infantile spasms64 HP:0012469
56 abnormality of upper lip54 Very frequent (99-80%)
57 ataxia54 Occasional (29-5%)
58 growth delay54 Very frequent (99-80%)

UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:


Drugs & Therapeutics for Miller-Dieker Lissencephaly Syndrome

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Interventional clinical trials:

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

Genetic Tests for Miller-Dieker Lissencephaly Syndrome

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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

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

Brain, Cortex, Skin, Heart, Kidney

Publications for Miller-Dieker Lissencephaly Syndrome

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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

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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

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

Pathways for genes affiliated with Miller-Dieker Lissencephaly Syndrome

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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

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

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:00058719.8NDEL1, PAFAH1B1, YWHAE

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1establishment of mitotic spindle orientationGO:000013210.6NDEL1, PAFAH1B1
2positive regulation of lipopolysaccharide-mediated signaling pathwayGO:003166610.4LY86, LY96
3nuclear envelope disassemblyGO:005108110.4NDEL1, PAFAH1B1
4regulation of microtubule motor activityGO:200057410.3NDEL1, PAFAH1B1
5retrograde axonal transportGO:000809010.2NDEL1, PAFAH1B1
6neuron migrationGO:000176410.2NDEL1, PAFAH1B1, 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:00428269.9CAMTA2, HIC1, YWHAE

Sources for Miller-Dieker Lissencephaly Syndrome

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