MDLS
MCID: MLL018
MIFTS: 52

Miller-Dieker Lissencephaly Syndrome (MDLS)

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

Aliases & Classifications for Miller-Dieker Lissencephaly Syndrome

MalaCards integrated aliases for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome 57 12 20 43 73 13 54 15 39
Miller-Dieker Syndrome 12 74 20 43 58
Mds 57 12 43 17
Mdls 57 20 73
Miller Dieker Syndrome 29 71
Lissencephaly Due to 17p13.3 Deletion 58
Classical Lissencephaly Syndrome 43
Classical Lissencephaly 71
Telomeric Deletion 17p 58
Monosomy 17p13.3 58

Characteristics:

Orphanet epidemiological data:

58
miller-dieker syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
contiguous gene syndrome
death often before age 2

Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Miller-Dieker Lissencephaly Syndrome

MedlinePlus Genetics : 43 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.In addition to lissencephaly, people with Miller-Dieker syndrome tend to have distinctive facial features that include a prominent forehead; a sunken appearance in the middle of the face (midface hypoplasia); a small, upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip. Some individuals with this condition also grow more slowly than other children. Rarely, affected individuals will have heart or kidney malformations or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. People with Miller-Dieker syndrome may also have life-threatening breathing problems. Most individuals with this condition do not survive beyond childhood.

MalaCards based summary : Miller-Dieker Lissencephaly Syndrome, also known as miller-dieker syndrome, is related to pachygyria and lissencephaly, 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 Reelin signaling pathway and Lissencephaly gene (LIS1) in neuronal migration and development. The drugs Zidovudine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and heart, and related phenotypes are intellectual disability and motor delay

Disease Ontology : 12 A syndrome characterized by classical lissencephaly and distinct facial features and has material basis in submicroscopic deletions of 17p13.3, including the LIS1 gene.

GARD : 20 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.

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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 : 74 Miller-Dieker syndrome, Miller-Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion... 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 363)
# Related Disease Score Top Affiliating Genes
1 pachygyria 31.1 TUBA1A PAFAH1B1 DCX
2 lissencephaly 30.8 YWHAE VLDLR TUBA1A RELN PAFAH1B1 NDEL1
3 lissencephaly 1 30.8 RELN PAFAH1B1 DCX
4 tubulinopathies 30.6 TUBB2B TUBA1A
5 neuronal migration disorders 30.6 TUBA1A RELN PAFAH1B1 DCX
6 myelodysplastic syndrome 11.8
7 mitochondrial dna depletion syndrome 8a 11.4
8 myelodysplastic syndrome with excess blasts 11.4
9 myelodysplastic/myeloproliferative neoplasm 11.3
10 dystonia 11, myoclonic 11.3
11 chromosome 5q deletion syndrome 11.3
12 mitochondrial dna depletion syndrome 2 11.2
13 distal 17p13.3 microdeletion syndrome 11.1
14 mitochondrial dna depletion syndrome 11.1
15 atypical chronic myeloid leukemia 11.0
16 chronic myelomonocytic leukemia 11.0
17 poikiloderma with neutropenia 11.0
18 myelodysplastic syndrome with single lineage dysplasia 11.0
19 aplastic anemia 11.0
20 mitochondrial dna depletion syndrome 6 11.0
21 juvenile myelomonocytic leukemia 10.9
22 leukemia, acute myeloid 10.9
23 shwachman-diamond syndrome 1 10.9
24 diamond-blackfan anemia 10.9
25 ataxia-pancytopenia syndrome 10.9
26 monosomy 7 myelodysplasia and leukemia syndrome 1 10.9
27 myeloproliferative/lymphoproliferative neoplasms, familial 10.9
28 mitochondrial dna depletion syndrome 4a 10.8
29 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.8
30 monosomy 7 myelodysplasia and leukemia syndrome 2 10.8
31 amed syndrome, digenic 10.8
32 myeloid leukemia 10.8
33 leukemia 10.6
34 refractory anemia 10.6
35 hemosiderosis 10.6
36 rare hereditary hemochromatosis 10.6
37 refractory anemia with excess blasts in transformation 10.5
38 acute leukemia 10.5
39 deficiency anemia 10.5
40 chromosomal triplication 10.5
41 graft-versus-host disease 10.4
42 myeloproliferative neoplasm 10.4
43 movement disease 10.4
44 neutropenia 10.4
45 microcephaly 10.4
46 pafah1b1-associated lissencephaly/subcortical band heterotopia 10.4
47 thrombocytosis 10.4
48 pancytopenia 10.4
49 ring chromosome 17 10.4
50 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.4

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

Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

31 58 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 31 obligate (100%) HP:0001249
2 motor delay 31 obligate (100%) HP:0001270
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 short nose 58 31 very rare (1%) Very frequent (99-80%) HP:0003196
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
7 epicanthus 58 31 very rare (1%) Very frequent (99-80%) HP:0000286
8 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
9 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
10 lissencephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0001339
11 abnormality of upper lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000177
12 frontal bossing 31 hallmark (90%) HP:0002007
13 posteriorly rotated ears 31 hallmark (90%) HP:0000358
14 seizure 31 hallmark (90%) HP:0001250
15 abnormality of the cardiovascular system 58 31 frequent (33%) Frequent (79-30%) HP:0001626
16 polyhydramnios 58 31 very rare (1%) Frequent (79-30%) HP:0001561
17 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
18 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
19 clinodactyly of the 5th finger 58 31 very rare (1%) Occasional (29-5%) HP:0004209
20 sacral dimple 58 31 very rare (1%) Occasional (29-5%) HP:0000960
21 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
22 hypoplasia of the corpus callosum 58 31 very rare (1%) Occasional (29-5%) HP:0002079
23 wide nasal bridge 31 very rare (1%) HP:0000431
24 microcephaly 31 very rare (1%) HP:0000252
25 intrauterine growth retardation 31 very rare (1%) HP:0001511
26 micrognathia 31 very rare (1%) HP:0000347
27 low-set ears 31 very rare (1%) HP:0000369
28 deep palmar crease 31 very rare (1%) HP:0006191
29 single transverse palmar crease 31 very rare (1%) HP:0000954
30 abnormality of cardiovascular system morphology 31 very rare (1%) HP:0030680
31 thick upper lip vermilion 31 very rare (1%) HP:0000215
32 joint contracture of the hand 31 very rare (1%) HP:0009473
33 midline brain calcifications 31 very rare (1%) HP:0007045
34 cavum septum pellucidum 31 very rare (1%) HP:0002389
35 seizures 58 Very frequent (99-80%)
36 failure to thrive 31 HP:0001508
37 cataract 31 HP:0000518
38 inguinal hernia 31 HP:0000023
39 cleft palate 31 HP:0000175
40 cryptorchidism 31 HP:0000028
41 delayed eruption of teeth 31 HP:0000684
42 upslanted palpebral fissure 31 HP:0000582
43 thin upper lip vermilion 31 HP:0000219
44 pelvic kidney 31 HP:0000125
45 decreased fetal movement 31 HP:0001558
46 midface retrusion 31 HP:0011800
47 abnormality of metabolism/homeostasis 31 HP:0001939
48 pachygyria 31 HP:0001302
49 infantile spasms 31 HP:0012469
50 abnormal heart morphology 31 HP:0001627

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
pachygyria
infantile spasms
progressive spastic paraplegia
midline brain calcifications
more
Head And Neck Eyes:
cataract
upslanting palpebral fissures

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
bitemporal hollowing
furrowing of forehead

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
omphalocele
duodenal atresia

Skeletal Hands:
camptodactyly
clinodactyly
polydactyly
transverse palmar creases

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

Growth Other:
failure to thrive

Abdomen External Features:
inguinal hernia

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

Growth Height:
intrauterine growth retardation

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

Genitourinary Kidneys:
pelvic kidney
cystic kidney

Respiratory Lung:
aspiration pneumonia

Cardiovascular Heart:
congenital heart defect

Skin Nails Hair Skin:
transverse palmar creases

Head And Neck Teeth:
late tooth eruption

Clinical features from OMIM®:

247200 (Updated 05-Mar-2021)

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 cellular MP:0005384 9.9 BHLHA9 DEGS1 DPH1 NDE1 NDEL1 PAFAH1B1
2 growth/size/body region MP:0005378 9.8 CRK DCX DEGS1 DPH1 HIC1 MAT1A
3 nervous system MP:0003631 9.44 BHLHA9 CRK DCX DPH1 HIC1 NDE1

Drugs & Therapeutics for Miller-Dieker Lissencephaly Syndrome

Drugs for Miller-Dieker Lissencephaly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zidovudine Approved Phase 2 30516-87-1 35370
2 Pharmaceutical Solutions Phase 1
3 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind Active-Controlled, Dose-Ranging Study of the Safety and Efficacy of Chronically Administered MDL 28,574A in the Treatment of HIV-Infected Patients Completed NCT00002151 Phase 2 Celgosivir hydrochloride
2 A Study of the Safety and Efficacy of Chronically Administered MDL 28,574A in the Treatment of HIV-Infected Patients Completed NCT00002150 Phase 2 Celgosivir hydrochloride
3 A Randomized, Placebo-Controlled, Double-Blind, Single and Multiple Oral Dose-Tolerance Study of Oral MDL 28,574A Solution in HIV-Positive Patients Completed NCT00002329 Phase 1 Celgosivir hydrochloride
4 Arthroscopic Electrothermal Capsulorrhaphy, ETAC, Versus Open Inferior Capsular Shift, ICS in Patients With Shoulder Instability: A Multicentre Randomized Clinical Trial Completed NCT00251160
5 Effects of a Multidisciplinary Team-led School-based Human Papillomavirus Vaccination Health-promotion Programme (MDL-SHPVP) on Improving Vaccine Acceptance and Uptake Among Female Adolescents: A Cluster Randomised Controlled Trial Not yet recruiting NCT04438291

Search 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:

40
Brain, Cortex, Heart, Kidney, Bone

Publications for Miller-Dieker Lissencephaly Syndrome

Articles related to Miller-Dieker Lissencephaly Syndrome:

(show top 50) (show all 236)
# Title Authors PMID Year
1
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. 57 61
20452996 2010
2
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. 61 57
19635726 2010
3
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. 57 61
19584063 2009
4
Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome. 57 61
15028671 2004
5
Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. 57 61
12905154 2003
6
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. 57 61
12796778 2003
7
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. 57 61
12621583 2003
8
Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. 61 57
10398263 1999
9
Classical lissencephaly syndromes: does the face reflect the brain? 57 61
9832039 1998
10
Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. 61 57
8825053 1996
11
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3) 57 61
8585563 1995
12
Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome. 57 61
7634541 1995
13
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. 57 61
7907669 1993
14
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. 61 57
8355785 1993
15
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. 61 57
1346078 1992
16
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. 61 57
1897521 1991
17
DNA analysis in patients with lissencephaly type I and other cortical dysplasias. 61 57
1951447 1991
18
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13. 61 57
1879837 1991
19
Miller-Dieker syndrome with ring chromosome 17. 61 57
1711306 1991
20
Clinical and molecular diagnosis of Miller-Dieker syndrome. 61 57
1671808 1991
21
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. 61 57
2227942 1990
22
Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. 61 57
2740347 1989
23
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. 61 57
3189330 1988
24
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. 57 61
2903661 1988
25
Miller-Dieker syndrome and monosomy 17p13: a new case. 61 57
3417298 1988
26
Microdeletion syndromes, balanced translocations, and gene mapping. 61 57
3050093 1988
27
Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. 61 57
3391613 1988
28
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. 61 57
3963054 1986
29
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. 61 57
6476009 1984
30
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. 61 57
6745939 1984
31
Miller-Dieker syndrome: lissencephaly and monosomy 17p. 57 61
6834189 1983
32
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. 57
8028668 1994
33
Purification and characterization of bovine brain platelet-activating factor acetylhydrolase. 57
8360169 1993
34
LIS is more. 57
8220419 1993
35
Inverted neurons in agyria. A Golgi study of a case with abnormal chromosome 17. 57
3744365 1986
36
Platelet activating factor: a biologically active phosphoglyceride. 57
3017194 1986
37
Inverted pyramidal neurons and their axons in the neocortex of reeler mutant mice. 57
6167365 1981
38
Lissencephaly. 57
175907 1976
39
[FAMILIAL FORM OF HYPERTELORISM ASSOCIATED WITH LISSENCEPHALIA WITH THE CLINICAL PICTURE OF A FORM OF MENTAL RETARDATION ASSOCIATED WITH EPILEPSY AND SPASTIC PARAPLEGIA]. 57
14174045 1964
40
LISSENCEPHALY IN 2 SIBLINGS. 57
14066999 1963
41
Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. 61 54
17850624 2007
42
Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. 61
33026665 2021
43
[Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome]. 61
33423263 2021
44
[Prenatal diagnosis of a fetus with Miller-Dieker syndrome]. 61
33179240 2020
45
Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China. 61
32767744 2020
46
In vitro modeling for inherited neurological diseases using induced pluripotent stem cells: from 2D to organoid. 61
32761309 2020
47
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization. 61
32323081 2020
48
The transcription factor Hypermethylated in Cancer 1 (Hic1) regulates neural crest migration via interaction with Wnt signaling. 61
32502469 2020
49
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype. 61
32028920 2020
50
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. 61
30568308 2019

Variations for Miller-Dieker Lissencephaly Syndrome

Copy number variations for Miller-Dieker Lissencephaly Syndrome from CNVD:

7
# CNVD ID Chromosome 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 PAFAH1B1 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 10.59 VLDLR RELN PAFAH1B1
2 10.59 YWHAE VLDLR RELN PAFAH1B1 NDEL1 DCX

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 microtubule GO:0005874 9.63 TUBB2B TUBA1A PAFAH1B1 NDEL1 NDE1 DCX
2 kinetochore GO:0000776 9.5 PAFAH1B1 NDEL1 NDE1
3 microtubule associated complex GO:0005875 9.43 PAFAH1B1 NDEL1 DCX
4 kinesin complex GO:0005871 9.26 YWHAE PAFAH1B1 NDEL1 NDE1
5 central region of growth cone GO:0090724 8.8 YWHAE PAFAH1B1 NDEL1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.12 RELN PAFAH1B1 NDEL1 NDE1 HIC1 DCX
2 lipid metabolic process GO:0006629 10.02 VLDLR PAFAH1B1 DEGS2 DEGS1 CRK
3 nervous system development GO:0007399 9.99 VLDLR TUBB2B PAFAH1B1 NDEL1 NDE1 DCX
4 cell migration GO:0016477 9.91 RELN PAFAH1B1 NDEL1 NDE1
5 microtubule cytoskeleton organization GO:0000226 9.85 TUBB2B TUBA1A PAFAH1B1 NDEL1
6 G2/M transition of mitotic cell cycle GO:0000086 9.83 YWHAE TUBA1A PAFAH1B1 NDE1
7 ciliary basal body-plasma membrane docking GO:0097711 9.76 YWHAE TUBA1A PAFAH1B1 NDE1
8 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.73 YWHAE TUBA1A PAFAH1B1 NDE1
9 microtubule-based process GO:0007017 9.71 TUBB2B TUBA1A PAFAH1B1
10 cerebral cortex development GO:0021987 9.71 RELN PAFAH1B1 NDE1 CRK
11 establishment of mitotic spindle orientation GO:0000132 9.67 PAFAH1B1 NDEL1 NDE1
12 positive regulation of dendritic spine morphogenesis GO:0061003 9.63 RELN PAFAH1B1
13 microtubule nucleation GO:0007020 9.63 NDEL1 NDE1
14 centrosome localization GO:0051642 9.62 NDEL1 NDE1
15 hippocampus development GO:0021766 9.62 RELN PAFAH1B1 DCX CRK
16 neuroblast proliferation GO:0007405 9.61 PAFAH1B1 NDE1
17 microtubule organizing center organization GO:0031023 9.6 PAFAH1B1 NDE1
18 retrograde axonal transport GO:0008090 9.59 PAFAH1B1 NDEL1
19 ventral spinal cord development GO:0021517 9.58 VLDLR RELN
20 mitotic centrosome separation GO:0007100 9.57 NDEL1 NDE1
21 nuclear envelope disassembly GO:0051081 9.56 PAFAH1B1 NDEL1
22 vesicle transport along microtubule GO:0047496 9.54 PAFAH1B1 NDEL1 NDE1
23 establishment of chromosome localization GO:0051303 9.48 NDEL1 NDE1
24 layer formation in cerebral cortex GO:0021819 9.43 RELN PAFAH1B1 DCX
25 regulation of microtubule motor activity GO:2000574 9.33 PAFAH1B1 NDEL1 NDE1
26 reelin-mediated signaling pathway GO:0038026 9.26 VLDLR RELN PAFAH1B1 CRK
27 neuron migration GO:0001764 9.17 TUBB2B RELN PAFAH1B1 NDEL1 NDE1 DCX

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

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.46 YWHAE TUBB2B PAFAH1B1 BHLHA9
2 microtubule binding GO:0008017 9.26 PAFAH1B1 NDEL1 NDE1 DCX
3 sphingolipid delta-4 desaturase activity GO:0042284 8.62 DEGS2 DEGS1

Sources for Miller-Dieker Lissencephaly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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