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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50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 48Novoseek, 66UMLS, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome 50 11 46 23 24 13 68 48
Miller-Dieker Syndrome 11 46 23 24 52 25
Mds 11 23 24
Mdls 46 68
Lissencephaly Due to 17p13.3 Deletion 52
Classical Lissencephaly Syndrome 24
Classical Lissencephaly 66
Telomeric Deletion 17p 52
Miller Dieker Syndrome 66
Monosomy 17p13.3 52


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:

OMIM50 247200
Disease Ontology11 DOID:0060469
ICD1028 Q04.3
Orphanet52 ORPHA531
ICD10 via Orphanet29 Q04.3
MESH via Orphanet38 D054221
UMLS via Orphanet67 C0265219
MedGen35 C0265219
MeSH37 D054221

Summaries for Miller-Dieker Lissencephaly Syndrome

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OMIM:50 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 epidermolysis bullosa simplex with 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.

Genetics Home Reference:24 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:46 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:68 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.

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 164)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome11.7
2epidermolysis bullosa simplex with muscular dystrophy11.1
3distal 17p13.3 microdeletion syndrome11.1
4menkes disease11.0
5walker-warburg syndrome11.0
6epidermolysa bullosa simplex with muscular dystrophy11.0
7muscular dystrophy10.8
8muscular dystrophy, congenital10.8
9muscular dystrophy-dystroglycanopathy , type a, 110.8
10spondyloepimetaphyseal dysplasia with joint laxity, type 210.8
11lama2-related muscular dystrophy10.8
12mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.8
13ocular muscular dystrophy10.8
14ophthalmoplegic muscular dystrophy10.8
15emd-related emery-dreifuss muscular dystrophy, x-linked10.8
16chromosome 17p13.3 duplication syndrome10.8PAFAH1B1, YWHAE
17subaortic stenosis, membranous10.8PAFAH1B1, YWHAE
18adenoiditis10.6FBXW2, LY96
19epithelial and subepithelial dystrophy10.6CRK, PAFAH1B1, YWHAE
20glandular tularemia10.6FBXW2, LY96
21hypertrophic pyloric stenosis10.6LY86, LY96
23urethritis10.5LY86, LY96
24gerstmann syndrome10.5GPX4, LY96
25hyperlucent lung10.4LY86, LY96
26hyperphosphatemia10.4PAFAH1B1, TUBA1A, YWHAE
27lissencephaly 110.4
29infant botulism10.4FBXW2, LY96
30gastric antral vascular ectasia10.3NDEL1, PAFAH1B1, TUBA1A
31mckusick type metaphyseal dysplasia10.3NDEL1, PAFAH1B1, TUBA1A
32typhoidal tularemia10.3FBXW2, LY96
33retinitis pigmentosa10.3
36myeloid leukemia10.2
37pseudopelade of brocq10.2PAFAH1B1, TUBA1A
38macrocytic anemia, refractory, due to 5q deletion, somatic10.0
39acute leukemia10.0
40aplastic anemia9.9
41penile cancer9.9
42refractory anemia9.9
43chronic myelomonocytic leukemia9.8
44hematopoietic stem cell transplantation9.8
46leukemia, acute myelomonocytic, somatic, somatic9.8
47reynolds syndrome9.8
48pulmonary fibrosis and/or bone marrow failure, telomere-related, 19.8
49epidermolysis bullosa simplex with pyloric atresia9.8
50metatropic dysplasia9.8

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

Diseases related to miller-dieker lissencephaly syndrome

Symptoms for Miller-Dieker Lissencephaly Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 52 (show all 18)
  • nephropathy
  • abnormality of upper lip
  • epicanthus
  • high forehead
  • anteverted nares
  • sacral dimple
  • seizures
  • ataxia
  • lissencephaly
  • growth delay
  • omphalocele
  • polyhydramnios
  • abnormality of the cardiovascular system
  • hypoplasia of the corpus callosum
  • cerebral cortical atrophy
  • eeg abnormality
  • short nose
  • clinodactyly of the 5th finger

HPO human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

(show all 66)
id Description Frequency HPO Source Accession
1 intellectual disability obligate (100%) HP:0001249
2 motor delay obligate (100%) HP:0001270
3 epicanthus hallmark (90%) HP:0000286
4 high forehead hallmark (90%) HP:0000348
5 posteriorly rotated ears hallmark (90%) HP:0000358
6 anteverted nares hallmark (90%) HP:0000463
7 seizures hallmark (90%) HP:0001250
8 frontal bossing hallmark (90%) HP:0002007
9 cerebral cortical atrophy hallmark (90%) HP:0002120
10 eeg abnormality hallmark (90%) HP:0002353
11 short nose hallmark (90%) HP:0003196
12 polyhydramnios typical (50%) HP:0001561
13 abnormality of the cardiovascular system typical (50%) HP:0001626
14 lissencephaly 27% HP:0001339
15 micrognathia 26% HP:0000347
16 short nose 26% HP:0003196
17 thick upper lip vermilion 25% HP:0000215
18 wide nasal bridge 24% HP:0000431
19 microcephaly 17% HP:0000252
20 hypoplasia of the corpus callosum 17% HP:0002079
21 cavum septum pellucidum 17% HP:0002389
22 low-set ears 14% HP:0000369
23 sacral dimple 14% HP:0000960
24 deep palmar crease 14% HP:0006191
25 midline brain calcifications 13% HP:0007045
26 clinodactyly of the 5th finger 10% HP:0004209
27 epicanthus 8% HP:0000286
28 intrauterine growth retardation 8% HP:0001511
29 nephropathy occasional (7.5%) HP:0000112
30 sacral dimple occasional (7.5%) HP:0000960
31 omphalocele occasional (7.5%) HP:0001539
32 incoordination occasional (7.5%) HP:0002311
33 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
34 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
35 polyhydramnios 6% HP:0001561
36 joint contracture of the hand 6% HP:0009473
37 abnormality of cardiovascular system morphology 6% HP:0030680
38 single transverse palmar crease rare (5%) HP:0000954
39 microcephaly HP:0000252
40 lissencephaly HP:0001339
41 abnormal heart morphology HP:0001627
42 frontal bossing HP:0002007
43 midface retrusion HP:0011800
44 inguinal hernia HP:0000023
45 cryptorchidism HP:0000028
46 pelvic kidney HP:0000125
47 cleft palate HP:0000175
48 thin upper lip vermilion HP:0000219
49 cataract HP:0000518
50 upslanted palpebral fissure HP:0000582
51 delayed eruption of teeth HP:0000684
52 seizures HP:0001250
53 pachygyria HP:0001302
54 failure to thrive HP:0001508
55 intrauterine growth retardation HP:0001511
56 omphalocele HP:0001539
57 decreased fetal movement HP:0001558
58 abnormality of metabolism/homeostasis HP:0001939
59 recurrent aspiration pneumonia HP:0002100
60 duodenal atresia HP:0002247
61 heterotopia HP:0002282
62 progressive spastic paraplegia HP:0007020
63 infantile muscular hypotonia HP:0008947
64 polydactyly HP:0010442
65 camptodactyly HP:0012385
66 infantile spasms HP:0012469

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 Syndrome25
2 Miller-Dieker Syndrome23 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

Animal Models for Miller-Dieker Lissencephaly Syndrome or affiliated genes

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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
1nuclear envelope disassemblyGO:005108110.5NDEL1, PAFAH1B1
2positive regulation of lipopolysaccharide-mediated signaling pathwayGO:003166610.5LY86, LY96
3retrograde axonal transportGO:000809010.5NDEL1, PAFAH1B1
4regulation of microtubule motor activityGO:200057410.5NDEL1, PAFAH1B1
5establishment of mitotic spindle orientationGO:000013210.3NDEL1, PAFAH1B1
6vesicle transport along microtubuleGO:004749610.3NDEL1, PAFAH1B1
7neuron migrationGO:00017649.8NDEL1, PAFAH1B1, YWHAE
8G2/M transition of mitotic cell cycleGO:00000869.2HAUS1, PAFAH1B1, TUBA1A, YWHAE

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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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet