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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49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 65UMLS, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome 49 10 45 22 23 47 12 67
Miller-Dieker Syndrome 10 45 22 23 51 24
Mds 10 22 23
Mdls 45 67
Lissencephaly Due to 17p13.3 Deletion 51
Classical Lissencephaly Syndrome 23
Classical Lissencephaly 65
Miller Dieker Syndrome 65
Telomeric Deletion 17p 51
Monosomy 17p13.3 51


Orphanet epidemiological data:

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


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


External Ids:

OMIM49 247200
Disease Ontology10 DOID:0060469
ICD1027 Q04.3
Orphanet51 531
ICD10 via Orphanet28 Q04.3
MESH via Orphanet37 D054221
UMLS via Orphanet66 C0265219
MedGen34 C0265219
MeSH36 D054221
UMLS65 C0265219, C0431375

Summaries for Miller-Dieker Lissencephaly Syndrome

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OMIM:49 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 lissencephaly 1 and myelodysplastic syndrome, and has symptoms including motor delay, intellectual disability and short nose. 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 COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include brain, cortex and skin, and related mouse phenotype embryo.

Disease Ontology:10 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:23 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:45 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:67 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 130)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 125.2BHLHA9, CAMTA2, CBARP, COL24A1, COL27A1, CRK
2myelodysplastic syndrome11.7
3distal 17p13.3 microdeletion syndrome11.1
4epidermolysis bullosa simplex with muscular dystrophy11.0
5epidermolysa bullosa simplex with muscular dystrophy11.0
6menkes disease11.0
7walker-warburg syndrome11.0
8muscular dystrophy10.9
9muscular dystrophy, congenital10.8
10muscular dystrophy-dystroglycanopathy , type a, 110.8
11lama2-related muscular dystrophy10.8
12mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.8
13ocular muscular dystrophy10.8
14ophthalmoplegic muscular dystrophy10.8
15spondyloepimetaphyseal dysplasia with multiple dislocations10.8
16emd-related emery-dreifuss muscular dystrophy, x-linked10.8
17asymptomatic dengue10.6FBXW2, LY96
18cole-carpenter syndrome10.6CRK, PAFAH1B1, YWHAE
20infant botulism10.5FBXW2, LY96
21eye degenerative disease10.5PAFAH1B1, PRPF8
22congenital hypoplastic anemia10.5LY86, LY96
23compensatory emphysema10.5LY86, LY96
25glandular tularemia10.4FBXW2, LY96
26sensory peripheral neuropathy10.3NDE1, NDEL1, PAFAH1B1
27neurogenic arthropathy10.3LY86, LY96
28periventricular nodular heterotopia10.3NDE1, PAFAH1B1, PAFAH1B3, YWHAE
29dysbaric osteonecrosis10.3NDE1, NDEL1, PAFAH1B1
30retinitis pigmentosa10.3
33myeloid leukemia10.2
34wound botulism10.1FBXW2, LY96
35macrocytic anemia, refractory, due to 5q deletion, somatic10.0
36acute leukemia10.0
37aplastic anemia9.9
38penile cancer9.9
39refractory anemia9.9
41leukemia, acute myelomonocytic, somatic, somatic9.8
42reynolds syndrome9.8
43pulmonary fibrosis and/or bone marrow failure, telomere-related, 19.8
44epidermolysis bullosa simplex with pyloric atresia9.8
45metatropic dysplasia9.8
46myelodysplasia and leukemia syndrome with monosomy 79.8
47myelodysplastic myeloproliferative cancer9.8
49prostate cancer9.8
50wolff-parkinson-white syndrome9.8

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:



 51 (show all 18)
  • high forehead
  • epicanthic folds
  • short/small nose
  • anteverted nares/nostrils
  • anomalies of mouth, lip and philtrum
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • structural anomalies of the cardio-circulatory system
  • polyhydramnios
  • sacral sinus/dimple
  • omphalocele/exomphalos
  • clinodactyly of fifth finger
  • renal disease/nephropathy
  • corpus callosum/septum pellucidum total/partial agenesis
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

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

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 Syndrome22 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, Kidney, Heart, Endothelial, Eye

Animal Models for Miller-Dieker Lissencephaly Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Miller-Dieker Lissencephaly Syndrome:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.9COL27A1, DPH1, HIC1, NDE1, NDEL1, PAFAH1B1

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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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:000587110.1NDE1, NDEL1
2kinetochoreGO:000077610.0NDEL1, PAFAH1B1

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:003166610.6LY86, LY96
2establishment of chromosome localizationGO:005130310.4NDE1, NDEL1
3positive regulation of axon extensionGO:004577310.4NDEL1, PAFAH1B1
4establishment of mitotic spindle orientationGO:000013210.0NDE1, NDEL1, PAFAH1B1
5microtubule nucleationGO:00070209.9NDE1, NDEL1
6G2/M transition of mitotic cell cycleGO:00000869.8HAUS1, PAFAH1B1, YWHAE
7organelle organizationGO:00069969.6NDE1, PAFAH1B1, YWHAE
8mitotic cell cycleGO:00002789.5NDE1, NDEL1, PAFAH1B1, YWHAE

Sources for Miller-Dieker Lissencephaly Syndrome

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet