MCID: MLL018
MIFTS: 48

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 57 12 53 25 75 55 15 40
Miller-Dieker Syndrome 12 53 25 59
Mdls 57 53 75
Mds 57 12 25
Miller Dieker Syndrome 29 73
Lissencephaly Due to 17p13.3 Deletion 59
Classical Lissencephaly Syndrome 25
Classical Lissencephaly 73
Telomeric Deletion 17p 59
Monosomy 17p13.3 59

Characteristics:

Orphanet epidemiological data:

59
miller-dieker syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene syndrome
death often before age 2


HPO:

32
miller-dieker lissencephaly syndrome:
Inheritance contiguous gene syndrome autosomal dominant inheritance


Classifications:



Summaries for Miller-Dieker Lissencephaly Syndrome

OMIM : 57 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 seizures 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 are IGF1 pathway and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, heart and lung, and related phenotypes are seizures and ataxia

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.

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 : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Miller–Dieker syndrome (abbreviated MDS), Miller–Dieker lissencephaly syndrome (MDLS), and chromosome... more...

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 170)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 31.4 PAFAH1B1 TUBA1A YWHAE
2 myelodysplastic syndrome 12.0
3 muscular dystrophy 11.7
4 epidermolysa bullosa simplex with muscular dystrophy 11.6
5 walker-warburg syndrome 11.5
6 chromosome 5q deletion syndrome 11.2
7 dystonia 11, myoclonic 11.2
8 epidermolysis bullosa simplex with muscular dystrophy 11.2
9 aplastic anemia 11.1
10 juvenile myelomonocytic leukemia 11.1
11 myelodysplastic myeloproliferative cancer 11.1
12 refractory anemia with excess blasts 11.1
13 muscular dystrophy, duchenne and becker type 11.1
14 distal 17p13.3 microdeletion syndrome 11.1
15 madelung deformity 11.0
16 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
17 menkes disease 11.0
18 townes-brocks syndrome 10.9
19 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.8
20 muscular dystrophy, congenital, lmna-related 10.8
21 lama2-related muscular dystrophy 10.8
22 mpv17-related hepatocerebral mitochondrial dna depletion syndrome 10.8
23 ocular muscular dystrophy 10.8
24 ophthalmoplegic muscular dystrophy 10.8
25 chromosomal duplication syndrome 10.8 PAFAH1B1 YWHAE
26 meniere disease 10.7
27 metatropic dysplasia 10.7
28 facioscapulohumeral muscular dystrophy 1 10.7
29 mitochondrial dna depletion syndrome 4a 10.7
30 monosomy 7 of bone marrow 10.7
31 adrenomyodystrophy 10.7
32 epidermolysis bullosa simplex with pyloric atresia 10.7
33 reynolds syndrome 10.7
34 immunodeficiency 21 10.7
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.7
36 myeloproliferative/lymphoproliferative neoplasms, familial 10.7
37 atypical chronic myeloid leukemia 10.7
38 pachygyria 10.7 PAFAH1B1 TUBA1A
39 chromosome 17p13.3, centromeric, duplication syndrome 10.6 CRK PAFAH1B1 YWHAE
40 intestinal botulism 10.6 FBXW2 LY96
41 wound botulism 10.6 FBXW2 LY96
42 parametritis 10.6 LY86 LY96
43 meibomian cyst 10.4 CBARP PNP
44 neurotic disorder 10.4 GPX4 LY96
45 leukemia 10.4
46 interstitial emphysema 10.3 LY86 LY96
47 congenital nervous system abnormality 10.3 NDEL1 PAFAH1B1 TUBA1A
48 retinitis pigmentosa 10.2
49 leber congenital amaurosis 4 10.2
50 retinitis 10.2

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:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
seizures
pachygyria
infantile spasms
progressive spastic paraplegia
midline brain calcifications
more
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

Respiratory Lung:
aspiration pneumonia

Head And Neck Nose:
small nose
upturned nares

Prenatal Manifestations Movement:
decreased fetal activity

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

Skeletal Hands:
clinodactyly
camptodactyly
polydactyly
transverse palmar creases

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
omphalocele
duodenal atresia

Cardiovascular Heart:
congenital heart defect

Skin Nails Hair Skin:
transverse palmar creases

Head And Neck Teeth:
late tooth eruption


Clinical features from OMIM:

247200

Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
4 short nose 59 32 very rare (1%) Very frequent (99-80%) HP:0003196
5 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
7 abnormality of the cardiovascular system 59 32 frequent (33%) Frequent (79-30%) HP:0001626
8 epicanthus 59 32 very rare (1%) Very frequent (99-80%) HP:0000286
9 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
10 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
11 clinodactyly of the 5th finger 59 32 very rare (1%) Occasional (29-5%) HP:0004209
12 polyhydramnios 59 32 very rare (1%) Frequent (79-30%) HP:0001561
13 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
14 sacral dimple 59 32 very rare (1%) Occasional (29-5%) HP:0000960
15 lissencephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0001339
16 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
17 hypoplasia of the corpus callosum 59 32 very rare (1%) Occasional (29-5%) HP:0002079
18 abnormality of upper lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000177
19 low-set ears 32 very rare (1%) HP:0000369
20 frontal bossing 32 hallmark (90%) HP:0002007
21 intellectual disability 32 obligate (100%) HP:0001249
22 failure to thrive 32 HP:0001508
23 inguinal hernia 32 HP:0000023
24 cataract 32 HP:0000518
25 wide nasal bridge 32 very rare (1%) HP:0000431
26 microcephaly 32 very rare (1%) HP:0000252
27 abnormality of metabolism/homeostasis 32 HP:0001939
28 cleft palate 32 HP:0000175
29 micrognathia 32 very rare (1%) HP:0000347
30 delayed eruption of teeth 32 HP:0000684
31 cryptorchidism 32 HP:0000028
32 intrauterine growth retardation 32 very rare (1%) HP:0001511
33 upslanted palpebral fissure 32 HP:0000582
34 thin upper lip vermilion 32 HP:0000219
35 pelvic kidney 32 HP:0000125
36 midface retrusion 32 HP:0011800
37 thick upper lip vermilion 32 very rare (1%) HP:0000215
38 decreased fetal movement 32 HP:0001558
39 pachygyria 32 HP:0001302
40 infantile spasms 32 HP:0012469
41 motor delay 32 obligate (100%) HP:0001270
42 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680
43 progressive spastic paraplegia 32 HP:0007020
44 deep palmar crease 32 very rare (1%) HP:0006191
45 single transverse palmar crease 32 very rare (1%) HP:0000954
46 heterotopia 32 HP:0002282
47 duodenal atresia 32 HP:0002247
48 posteriorly rotated ears 32 hallmark (90%) HP:0000358
49 camptodactyly 32 HP:0012385
50 abnormal heart morphology 32 HP:0001627

UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:


seizures

MGI Mouse Phenotypes related to Miller-Dieker Lissencephaly Syndrome:

46
# 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 29

Anatomical Context for Miller-Dieker Lissencephaly Syndrome

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

41
Brain, Heart, Lung, Skin, Liver, Bone, Cortex

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 10.4 CRK YWHAE
2 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.67 PAFAH1B1 TUBA1A YWHAE
2 neuron migration GO:0001764 9.63 NDEL1 PAFAH1B1 YWHAE
3 microtubule cytoskeleton organization GO:0000226 9.61 NDEL1 PAFAH1B1 TUBA1A
4 ciliary basal body-plasma membrane docking GO:0097711 9.54 PAFAH1B1 TUBA1A YWHAE
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.5 PAFAH1B1 TUBA1A YWHAE
6 establishment of mitotic spindle orientation GO:0000132 9.48 NDEL1 PAFAH1B1
7 vesicle transport along microtubule GO:0047496 9.4 NDEL1 PAFAH1B1
8 retrograde axonal transport GO:0008090 9.26 NDEL1 PAFAH1B1
9 positive regulation of lipopolysaccharide-mediated signaling pathway GO:0031666 9.16 LY86 LY96
10 nuclear envelope disassembly GO:0051081 8.96 NDEL1 PAFAH1B1
11 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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