MCID: MLL018
MIFTS: 47

Miller-Dieker Lissencephaly Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Miller-Dieker Lissencephaly Syndrome

MalaCards integrated aliases for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome 53 12 49 24 71 51 14
Miller-Dieker Syndrome 12 49 24 55
Mdls 53 49 71
Mds 53 12 24
Miller Dieker Syndrome 28 69
Lissencephaly Due to 17p13.3 Deletion 55
Classical Lissencephaly Syndrome 24
Classical Lissencephaly 69
Telomeric Deletion 17p 55
Monosomy 17p13.3 55

Characteristics:

Orphanet epidemiological data:

55
miller-dieker syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene syndrome
death often before age 2


HPO:

31
miller-dieker lissencephaly syndrome:
Inheritance contiguous gene syndrome autosomal dominant inheritance


Classifications:



Summaries for Miller-Dieker Lissencephaly Syndrome

OMIM : 53 Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by Schinzel, 1988). Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri. Deletion of or mutation in the LIS1 gene (PAFAH1B1; 601545) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see 607432). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. Toyo-oka et al. (2003) presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; 605066). (247200)

MalaCards based summary : Miller-Dieker Lissencephaly Syndrome, also known as miller-dieker syndrome, is related to lissencephaly and myelodysplastic syndrome, 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, and related phenotype is nervous system.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

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.

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 121)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 31.2 PAFAH1B1 TUBA1A YWHAE
2 myelodysplastic syndrome 12.0
3 muscular dystrophy 11.7
4 chromosome 5q deletion syndrome 11.2
5 dystonia 11, myoclonic 11.2
6 epidermolysis bullosa simplex with muscular dystrophy 11.2
7 aplastic anemia 11.1
8 juvenile myelomonocytic leukemia 11.1
9 myelodysplastic myeloproliferative cancer 11.1
10 madelung deformity 11.1
11 distal 17p13.3 microdeletion syndrome 11.1
12 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
13 menkes disease 11.0
14 walker-warburg syndrome 11.0
15 epidermolysa bullosa simplex with muscular dystrophy 11.0
16 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.8
17 muscular dystrophy, congenital, lmna-related 10.8
18 lama2-related muscular dystrophy 10.8
19 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 10.8
20 ocular muscular dystrophy 10.8
21 ophthalmoplegic muscular dystrophy 10.8
22 meniere disease 10.8
23 metatropic dysplasia 10.8
24 facioscapulohumeral muscular dystrophy 1 10.8
25 mitochondrial dna depletion syndrome 4a 10.8
26 monosomy 7 of bone marrow 10.8
27 adrenomyodystrophy 10.8
28 epidermolysis bullosa simplex with pyloric atresia 10.8
29 reynolds syndrome 10.8
30 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.8
31 myeloproliferative/lymphoproliferative neoplasms, familial 10.8
32 atypical chronic myeloid leukemia 10.8
33 chromosomal duplication syndrome 10.5 PAFAH1B1 YWHAE
34 chromosome 17p13.3, centromeric, duplication syndrome 10.4 CRK PAFAH1B1 YWHAE
35 intestinal botulism 10.4 FBXW2 LY96
36 wound botulism 10.4 FBXW2 LY96
37 parametritis 10.4 LY86 LY96
38 leukemia 10.4
39 hydrocephalus, nonsyndromic, autosomal recessive 1 10.3
40 hydrocephalus, nonsyndromic, autosomal recessive 2 10.3
41 neurotic disorder 10.3 GPX4 LY96
42 meibomian cyst 10.3 CBARP PNP
43 interstitial emphysema 10.3 LY86 LY96
44 retinitis pigmentosa 10.2
45 retinitis pigmentosa 13 10.2
46 leber congenital amaurosis 4 10.2
47 heart disease 10.2
48 retinitis 10.2
49 polyhydramnios 10.2
50 congenital nervous system abnormality 10.2 NDEL1 PAFAH1B1 TUBA1A

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
pachygyria
infantile spasms
midline brain calcifications
progressive spastic paraplegia
more
Skeletal Hands:
clinodactyly
camptodactyly
polydactyly
transverse palmar creases

Abdomen External Features:
inguinal hernia

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
bitemporal hollowing
furrowing of forehead

Growth Height:
intrauterine growth retardation

Genitourinary Kidneys:
pelvic kidney
cystic kidney

Cardiovascular Heart:
congenital heart defect

Skin Nails Hair Skin:
transverse palmar creases

Prenatal Manifestations Movement:
decreased fetal activity

Laboratory Abnormalities:
cytogenetic deletion of chromosome 17p13.3
fluorescence in situ hybridization specific probe for mds critical region

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive

Head And Neck Eyes:
cataract
upslanting palpebral fissures

Head And Neck Mouth:
cleft palate
thin vermilion border of upper lip
prominent upper lip

Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastroin testinal:
omphalocele
duodenal atresia

Head And Neck Nose:
small nose
upturned nares

Respiratory Lung:
aspiration pneumonia

Head And Neck Teeth:
late tooth eruption


Clinical features from OMIM:

247200

Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

55 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 short nose 55 31 very rare (1%) Very frequent (99-80%) HP:0003196
5 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
7 abnormality of the cardiovascular system 55 31 frequent (33%) Frequent (79-30%) HP:0001626
8 epicanthus 55 31 very rare (1%) Very frequent (99-80%) HP:0000286
9 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
10 cerebral cortical atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002120
11 clinodactyly of the 5th finger 55 31 very rare (1%) Occasional (29-5%) HP:0004209
12 polyhydramnios 55 31 very rare (1%) Frequent (79-30%) HP:0001561
13 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
14 sacral dimple 55 31 very rare (1%) Occasional (29-5%) HP:0000960
15 lissencephaly 55 31 very rare (1%) Very frequent (99-80%) HP:0001339
16 omphalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0001539
17 hypoplasia of the corpus callosum 55 31 very rare (1%) Occasional (29-5%) HP:0002079
18 abnormality of upper lip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000177
19 low-set ears 31 very rare (1%) HP:0000369
20 frontal bossing 31 hallmark (90%) HP:0002007
21 intellectual disability 31 obligate (100%) HP:0001249
22 failure to thrive 31 HP:0001508
23 inguinal hernia 31 HP:0000023
24 cataract 31 HP:0000518
25 wide nasal bridge 31 very rare (1%) HP:0000431
26 microcephaly 31 very rare (1%) HP:0000252
27 abnormality of metabolism/homeostasis 31 HP:0001939
28 cleft palate 31 HP:0000175
29 micrognathia 31 very rare (1%) HP:0000347
30 delayed eruption of teeth 31 HP:0000684
31 cryptorchidism 31 HP:0000028
32 intrauterine growth retardation 31 very rare (1%) HP:0001511
33 upslanted palpebral fissure 31 HP:0000582
34 thin upper lip vermilion 31 HP:0000219
35 pelvic kidney 31 HP:0000125
36 midface retrusion 31 HP:0011800
37 thick upper lip vermilion 31 very rare (1%) HP:0000215
38 decreased fetal movement 31 HP:0001558
39 pachygyria 31 HP:0001302
40 infantile spasms 31 HP:0012469
41 motor delay 31 obligate (100%) HP:0001270
42 abnormality of cardiovascular system morphology 31 very rare (1%) HP:0030680
43 deep palmar crease 31 very rare (1%) HP:0006191
44 single transverse palmar crease 31 very rare (1%) HP:0000954
45 heterotopia 31 HP:0002282
46 duodenal atresia 31 HP:0002247
47 posteriorly rotated ears 31 hallmark (90%) HP:0000358
48 camptodactyly 31 HP:0012385
49 abnormal heart morphology 31 HP:0001627
50 midline brain calcifications 31 very rare (1%) HP:0007045

UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:


seizures

MGI Mouse Phenotypes related to Miller-Dieker Lissencephaly Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 CRK DPH1 GPX4 HIC1 KIF1BP NDEL1

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:

# Genetic test Affiliating Genes
1 Miller Dieker Syndrome 28

Anatomical Context for Miller-Dieker Lissencephaly Syndrome

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

38
Brain, Skin, Cortex, Heart, Kidney, Temporal Lobe

Publications for Miller-Dieker Lissencephaly Syndrome

Articles related to Miller-Dieker Lissencephaly Syndrome:

# 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
# 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:

# Super pathways Score Top Affiliating Genes
1 10.29 NDEL1 PAFAH1B1 YWHAE

GO Terms for Miller-Dieker Lissencephaly Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 kinesin complex GO:0005871 9.13 NDEL1 PAFAH1B1 YWHAE
2 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:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.65 PAFAH1B1 TUBA1A YWHAE
2 neuron migration GO:0001764 9.61 NDEL1 PAFAH1B1 YWHAE
3 ciliary basal body-plasma membrane docking GO:0097711 9.58 PAFAH1B1 TUBA1A YWHAE
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.5 PAFAH1B1 TUBA1A YWHAE
5 establishment of mitotic spindle orientation GO:0000132 9.46 NDEL1 PAFAH1B1
6 vesicle transport along microtubule GO:0047496 9.37 NDEL1 PAFAH1B1
7 retrograde axonal transport GO:0008090 9.26 NDEL1 PAFAH1B1
8 positive regulation of lipopolysaccharide-mediated signaling pathway GO:0031666 9.16 LY86 LY96
9 nuclear envelope disassembly GO:0051081 8.96 NDEL1 PAFAH1B1
10 regulation of microtubule motor activity GO:2000574 8.62 NDEL1 PAFAH1B1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 BHLHA9 CAMTA2 COL24A1 CRK DPH1 FBXW2
2 histone deacetylase binding GO:0042826 9.13 CAMTA2 HIC1 YWHAE

Sources for Miller-Dieker Lissencephaly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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