MDLS
MCID: MLL018
MIFTS: 55

Miller-Dieker Lissencephaly Syndrome (MDLS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Miller-Dieker Lissencephaly Syndrome

MalaCards integrated aliases for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome 57 11 19 42 73 53 14 38
Miller-Dieker Syndrome 11 19 42 58 75
Mds 57 11 42 16
Miller Dieker Syndrome 28 5 71
Mdls 57 19 73
Lissencephaly Due to 17p13.3 Deletion 58
Classical Lissencephaly Syndrome 42
Classical Lissencephaly 71
Telomeric Deletion 17p 58
Monosomy 17p13.3 58

Characteristics:


Inheritance:

Miller-Dieker Lissencephaly Syndrome: Autosomal dominant 57
Miller-Dieker Syndrome: Autosomal dominant 58

Prevelance:

Miller-Dieker Syndrome: 1-9/100000 (Europe) 58

Age Of Onset:

Miller-Dieker Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
contiguous gene syndrome
death often before age 2


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Miller-Dieker Lissencephaly Syndrome

MedlinePlus Genetics: 42 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 corpus callosum, agenesis of and neuronal migration disorders, 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 Cell Cycle, Mitotic and Vesicle-mediated transport. Affiliated tissues include brain, kidney and cortex, and related phenotypes are intellectual disability and motor delay

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 08-Dec-2022)

GARD: 19 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.

Orphanet: 58 Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A syndrome characterized by classical lissencephaly and distinct facial features and has material basis in submicroscopic deletions of 17p13.3, including the LIS1 gene.

Wikipedia: 75 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 510)
# Related Disease Score Top Affiliating Genes
1 corpus callosum, agenesis of 30.8 TUBA1A CDK5RAP2
2 neuronal migration disorders 30.6 TUBA1A RELN
3 lissencephaly 30.6 YWHAE VLDLR TUBB2B TUBA1A RELN PAFAH1B3
4 tubulinopathy 30.5 TUBB2B TUBA1A RELN PAFAH1B1
5 lissencephaly 1 30.5 YWHAE TUBA1A RELN PAFAH1B1 NDEL1 NDE1
6 myelodysplastic syndrome 11.7
7 mitochondrial dna depletion syndrome 8a 11.4
8 mitochondrial dna depletion syndrome 2 11.2
9 distal 17p13.3 microdeletion syndrome 11.2
10 aml with myelodysplasia-related features 11.2
11 chromosome 5q deletion syndrome 11.2
12 refractory anemia with excess blasts 11.1
13 refractory anemia 11.1
14 dystonia 11, myoclonic 11.0
15 poikiloderma with neutropenia 11.0
16 unclassified myelodysplastic syndrome 11.0
17 mitochondrial dna depletion syndrome 6 11.0
18 leukemia, acute myeloid 11.0
19 juvenile myelomonocytic leukemia 11.0
20 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.0
21 myelodysplastic/myeloproliferative neoplasm 10.9
22 acute myeloid leukemia with recurrent genetic anomaly 10.9
23 atypical chronic myeloid leukemia, bcr-abl1 negative 10.9
24 refractory cytopenia with multilineage dysplasia 10.9
25 monosomy 7 myelodysplasia and leukemia syndrome 1 10.9
26 shwachman-diamond syndrome 1 10.9
27 myeloproliferative/lymphoproliferative neoplasms, familial 10.9
28 diamond-blackfan anemia 10.9
29 dyskeratosis congenita 10.9
30 ataxia-pancytopenia syndrome 10.9
31 alpha-thalassemia myelodysplasia syndrome 10.9
32 mitochondrial dna depletion syndrome 10.9
33 mitochondrial dna depletion syndrome 4a 10.9
34 diamond-blackfan anemia 2 10.9
35 diamond-blackfan anemia 3 10.9
36 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.9
37 monosomy 7 myelodysplasia and leukemia syndrome 2 10.9
38 amed syndrome, digenic 10.9
39 dyskeratosis congenita autosomal recessive 10.9
40 myeloid leukemia 10.7
41 leukemia 10.7
42 chronic myelomonocytic leukemia 10.7
43 movement disease 10.6
44 myeloproliferative neoplasm 10.6
45 deficiency anemia 10.6
46 graft-versus-host disease 10.6
47 aplastic anemia 10.6
48 acute leukemia 10.5
49 parkinson disease, late-onset 10.5
50 refractory anemia with excess blasts in transformation 10.5

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:

30 58 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Obligate (100%) HP:0001249
2 motor delay 30 Obligate (100%) HP:0001270
3 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
4 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
5 short nose 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003196
6 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
7 growth delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001510
8 epicanthus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000286
9 cerebral cortical atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002120
10 high forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000348
11 lissencephaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001339
12 abnormality of upper lip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000177
13 frontal bossing 30 Hallmark (90%) HP:0002007
14 posteriorly rotated ears 30 Hallmark (90%) HP:0000358
15 abnormality of the cardiovascular system 58 30 Frequent (33%) Frequent (79-30%)
HP:0001626
16 polyhydramnios 58 30 Very rare (1%) Frequent (79-30%)
HP:0001561
17 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
18 nephropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000112
19 clinodactyly of the 5th finger 58 30 Very rare (1%) Occasional (29-5%)
HP:0004209
20 sacral dimple 58 30 Very rare (1%) Occasional (29-5%)
HP:0000960
21 omphalocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001539
22 hypoplasia of the corpus callosum 58 30 Very rare (1%) Occasional (29-5%)
HP:0002079
23 wide nasal bridge 30 Very rare (1%) HP:0000431
24 microcephaly 30 Very rare (1%) HP:0000252
25 intrauterine growth retardation 30 Very rare (1%) HP:0001511
26 micrognathia 30 Very rare (1%) HP:0000347
27 low-set ears 30 Very rare (1%) HP:0000369
28 deep palmar crease 30 Very rare (1%) HP:0006191
29 single transverse palmar crease 30 Very rare (1%) HP:0000954
30 abnormality of cardiovascular system morphology 30 Very rare (1%) HP:0030680
31 thick upper lip vermilion 30 Very rare (1%) HP:0000215
32 joint contracture of the hand 30 Very rare (1%) HP:0009473
33 midline brain calcifications 30 Very rare (1%) HP:0007045
34 cavum septum pellucidum 30 Very rare (1%) HP:0002389
35 failure to thrive 30 HP:0001508
36 cataract 30 HP:0000518
37 inguinal hernia 30 HP:0000023
38 cleft palate 30 HP:0000175
39 cryptorchidism 30 HP:0000028
40 upslanted palpebral fissure 30 HP:0000582
41 delayed eruption of teeth 30 HP:0000684
42 thin upper lip vermilion 30 HP:0000219
43 pelvic kidney 30 HP:0000125
44 decreased fetal movement 30 HP:0001558
45 midface retrusion 30 HP:0011800
46 abnormality of metabolism/homeostasis 30 HP:0001939
47 pachygyria 30 HP:0001302
48 infantile spasms 30 HP:0012469
49 abnormal heart morphology 30 HP:0001627
50 gray matter heterotopia 30 HP:0002282

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

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

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

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 08-Dec-2022)

UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:


seizures

GenomeRNAi Phenotypes related to Miller-Dieker Lissencephaly Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 CDK5RAP2 CRK DCX DISC1 DPH1 HIC1
2 no effect GR00402-S-2 10.17 CDK5RAP2 DCX DISC1 DPH1 HIC1 MYO1C
3 Reduced mammosphere formation GR00396-S 9.43 DISC1 NDE1 NDEL1 PAFAH1B1 TUBA1A VLDLR

MGI Mouse Phenotypes related to Miller-Dieker Lissencephaly Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.25 BHLHA9 CDK5RAP2 CRK DCX DISC1 DPH1
2 growth/size/body region MP:0005378 10.13 CDK5RAP2 CRK DCX DISC1 DPH1 HIC1
3 cellular MP:0005384 9.83 BHLHA9 CDK5RAP2 DPH1 MYO1C NDE1 NDEL1
4 craniofacial MP:0005382 9.76 CDK5RAP2 CRK DPH1 HIC1 NDEL1 TUBA1A
5 mortality/aging MP:0010768 9.44 CDK5RAP2 CRK DCX DPH1 HIC1 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

Organs/tissues related to Miller-Dieker Lissencephaly Syndrome:

MalaCards : Brain, Kidney, Cortex, Heart, Liver, Skin, Spinal Cord

Publications for Miller-Dieker Lissencephaly Syndrome

Articles related to Miller-Dieker Lissencephaly Syndrome:

(show top 50) (show all 624)
# Title Authors PMID Year
1
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. 62 57
20452996 2010
2
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. 62 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. 62 57
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. 62 57
15028671 2004
5
Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. 62 57
12905154 2003
6
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. 62 57
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. 62 57
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. 62 57
10398263 1999
9
Classical lissencephaly syndromes: does the face reflect the brain? 62 57
9832039 1998
10
Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. 62 57
8825053 1996
11
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3) 62 57
8585563 1995
12
Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome. 62 57
7634541 1995
13
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. 62 57
7907669 1993
14
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. 62 57
8355785 1993
15
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. 62 57
1346078 1992
16
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. 62 57
1897521 1991
17
DNA analysis in patients with lissencephaly type I and other cortical dysplasias. 62 57
1951447 1991
18
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13. 62 57
1879837 1991
19
Miller-Dieker syndrome with ring chromosome 17. 62 57
1711306 1991
20
Clinical and molecular diagnosis of Miller-Dieker syndrome. 62 57
1671808 1991
21
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. 62 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. 62 57
2740347 1989
23
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. 62 57
2903661 1988
24
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. 62 57
3189330 1988
25
Miller-Dieker syndrome and monosomy 17p13: a new case. 62 57
3417298 1988
26
Microdeletion syndromes, balanced translocations, and gene mapping. 62 57
3050093 1988
27
Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. 62 57
3391613 1988
28
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. 62 57
3963054 1986
29
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. 62 57
6476009 1984
30
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. 62 57
6745939 1984
31
Miller-Dieker syndrome: lissencephaly and monosomy 17p. 62 57
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. 53 62
17850624 2007
42
Accumulation and risk prioritization of psychoactive substances in the critically endangered Yangtze finless porpoise. 62
36152546 2023
43
Risk of Noise-Induced Hearing Loss for Orthopaedic Surgeons. 62
36170382 2022
44
[Determination of 16 particle-phase polycyclic aromatic hydrocarbons in herbal incense by ultrasonic extraction-gas chromatography-mass spectrometry and analysis of emission characteristics]. 62
36450351 2022
45
Outcomes of bellwether cases related to inferior vena cava filters in multidistrict litigations. 62
35810992 2022
46
Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report. 62
36412589 2022
47
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. 62
36433683 2022
48
Application of wastewater-based epidemiology for estimating population-wide human exposure to phthalate esters, bisphenols, and terephthalic acid. 62
35901875 2022
49
[Determination of polychlorinated naphthalenes in soil using accelerated solvent extraction-molecular sieves solid-phase extraction coupled with gas chromatography-tandem mass spectrometry]. 62
36222257 2022
50
Simultaneous determination of 16 urinary metabolites of organophosphate flame retardants and organophosphate pesticides by solid phase extraction and ultra performance liquid chromatography coupled to tandem mass spectrometry. 62
35427657 2022

Variations for Miller-Dieker Lissencephaly Syndrome

ClinVar genetic disease variations for Miller-Dieker Lissencephaly Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 19 genes GRCh37/hg19 17p13.3(chr17:525-1464281) CN LOSS Pathogenic
1703618 GRCh37: 17:525-1464281
GRCh38:

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

6
# 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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 YWHAE TUBB2B TUBA1A PAFAH1B1 NDEL1 NDE1
2
Show member pathways
13.12 YWHAE TUBB2B TUBA1A PAFAH1B3 PAFAH1B2 PAFAH1B1
3
Show member pathways
12.98 YWHAE TUBB2B TUBA1A PAFAH1B1 NDE1 CDK5RAP2
4
Show member pathways
12.83 TUBB2B TUBA1A PAFAH1B3 PAFAH1B2 PAFAH1B1
5
Show member pathways
12.82 YWHAE TUBB2B TUBA1A PAFAH1B1 NDEL1 NDE1
6
Show member pathways
12.72 TUBB2B TUBA1A PAFAH1B1 NDEL1 NDE1
7
Show member pathways
12.33 YWHAE TUBB2B TUBA1A PAFAH1B1 NDE1 CDK5RAP2
8
Show member pathways
12.26 TUBB2B TUBA1A PAFAH1B3 PAFAH1B2 PAFAH1B1
9
Show member pathways
11.83 MYO1C TUBA1A TUBB2B YWHAE
10 11.7 VLDLR RELN NDEL1
11 11.11 VLDLR RELN PAFAH1B1 NDEL1 DISC1
12 10.88 VLDLR RELN PAFAH1B1
13 10.67 YWHAE VLDLR RELN PAFAH1B3 PAFAH1B2 PAFAH1B1
14 10.13 VLDLR RELN

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 cytoplasm GO:0005737 10.48 BHLHA9 CDK5RAP2 CRK DCX DISC1 DPH1
2 cytoskeleton GO:0005856 10.1 TUBB2B TUBA1A PAFAH1B1 NDEL1 NDE1 DISC1
3 kinesin complex GO:0005871 9.86 PAFAH1B1 NDEL1 NDE1 DISC1
4 microtubule organizing center GO:0005815 9.83 PAFAH1B1 NDEL1 NDE1 DISC1 CDK5RAP2
5 microtubule associated complex GO:0005875 9.77 PAFAH1B1 NDEL1 DCX
6 central region of growth cone GO:0090724 9.63 DISC1 NDEL1 PAFAH1B1
7 microtubule GO:0005874 9.5 TUBB2B TUBA1A PAFAH1B1 NDEL1 NDE1 DISC1
8 1-alkyl-2-acetylglycerophosphocholine esterase complex GO:0008247 9.43 PAFAH1B3 PAFAH1B2 PAFAH1B1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.28 CRK PAFAH1B1 PAFAH1B2 PAFAH1B3 PITPNA VLDLR
2 brain development GO:0007420 10.18 RELN PAFAH1B3 PAFAH1B2 PAFAH1B1 DCX CDK5RAP2
3 cell migration GO:0016477 10.17 RELN PAFAH1B1 NDEL1 NDE1 CRK
4 nervous system development GO:0007399 10.11 DCX DISC1 NDE1 NDEL1 PAFAH1B1 PAFAH1B3
5 modulation of chemical synaptic transmission GO:0050804 10.02 TUBB2B RELN PAFAH1B1
6 positive regulation of axon extension GO:0045773 10.02 PAFAH1B1 NDEL1 DISC1
7 establishment of mitotic spindle orientation GO:0000132 10.01 PAFAH1B1 NDEL1 NDE1 CDK5RAP2
8 microtubule-based process GO:0007017 10 TUBB2B TUBA1A PAFAH1B1
9 microtubule cytoskeleton organization GO:0000226 10 CDK5RAP2 DISC1 NDEL1 PAFAH1B1 TUBA1A TUBB2B
10 vesicle transport along microtubule GO:0047496 9.97 PAFAH1B1 NDEL1 NDE1
11 hippocampus development GO:0021766 9.97 YWHAE RELN PAFAH1B1 DCX CRK
12 retrograde axonal transport GO:0008090 9.91 PAFAH1B1 NDEL1
13 interneuron migration GO:1904936 9.9 RELN PAFAH1B1
14 ventral spinal cord development GO:0021517 9.89 VLDLR RELN
15 mitotic centrosome separation GO:0007100 9.88 NDEL1 NDE1
16 nuclear membrane disassembly GO:0051081 9.86 NDEL1 PAFAH1B1
17 layer formation in cerebral cortex GO:0021819 9.85 DCX PAFAH1B1 RELN
18 radial glia-guided pyramidal neuron migration GO:0140650 9.84 PAFAH1B1 NDEL1
19 microtubule organizing center organization GO:0031023 9.83 PAFAH1B1 NDE1 CDK5RAP2
20 establishment of chromosome localization GO:0051303 9.81 NDEL1 NDE1
21 cerebral cortex radially oriented cell migration GO:0021799 9.78 NDEL1 DISC1
22 reelin-mediated signaling pathway GO:0038026 9.76 VLDLR RELN PAFAH1B1 CRK
23 cerebral cortex development GO:0021987 9.7 CRK NDE1 PAFAH1B1 RELN TUBA1A TUBB2B
24 neuron migration GO:0001764 9.58 YWHAE TUBB2B TUBA1A RELN PAFAH1B1 NDEL1

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.96 PAFAH1B1 NDEL1 NDE1 DCX CDK5RAP2
2 protein heterodimerization activity GO:0046982 9.77 BHLHA9 PAFAH1B1 PAFAH1B2 PAFAH1B3 TUBA1A TUBB2B
3 1-alkyl-2-acetylglycerophosphocholine esterase activity GO:0003847 9.62 PAFAH1B3 PAFAH1B2
4 platelet-activating factor acetyltransferase activity GO:0047179 9.46 PAFAH1B3 PAFAH1B2
5 protein-containing complex binding GO:0044877 9.4 TUBA1A PAFAH1B3 PAFAH1B2 PAFAH1B1 NDEL1 DISC1

Sources for Miller-Dieker Lissencephaly Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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