MDS
MCID: MLL005
MIFTS: 52

Miller-Dieker Syndrome (MDS) malady

Neuronal diseases, Fetal diseases categories

Summaries for Miller-Dieker Syndrome

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 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.

MalaCards: Miller-Dieker Syndrome, also known as miller-dieker lissencephaly syndrome, is related to lissencephaly and muscular dystrophy, and has symptoms including sacral sinus/dimple, omphalocele/exomphalos and clinodactyly of fifth finger. An important gene associated with Miller-Dieker Syndrome is HIC1 (hypermethylated in cancer 1), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Erythropoietin Pathway. The compounds phosphatidylinositol-3,4,5-trisphosphate and lipid have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and cortex, and related mouse phenotypes are digestive/alimentary and cellular.

NIH Rare Diseases:42 Miller-dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. miller-dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. treatment is symptomatic and supportive. last updated: 2/15/2011

Description from OMIM:46 247200

Aliases & Classifications for Miller-Dieker Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
miller-dieker syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

miller-dieker syndrome 42 20 22 21 48 46
miller-dieker lissencephaly syndrome 42 21 46 44
lissencephaly due to 17p13.3 deletion 48
classical lissencephaly syndrome 21
gene deletion abnormality 60
telomeric deletion 17p 48
miller dieker syndrome 60
monosomy 17p13.3 48
mdls 42
mds 21


External Ids:

OMIM46 247200
MESH via Orphanet35 D054221
ICD10 via Orphanet26 Q04.3
SNOMED-CT via Orphanet57 253148005
UMLS via Orphanet61 C0265219

Related Diseases for Miller-Dieker Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Miller-Dieker Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 244)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly31.1NDEL1, CRK, CDK5, YWHAE, PAFAH1B1
2muscular dystrophy10.5
3neuronitis10.5
4myeloid leukemia10.4
5acute myeloid leukemia10.4
6image syndrome10.4
7polyhydramnios10.4
8congenital heart defect10.4
9myelodysplastic syndromes10.3
10atrioventricular block10.2
11vacterl association10.2
12smith-lemli-opitz syndrome10.2
13neurofibromatosis10.2
14cerebritis10.2
15prader-willi syndrome10.2
16acute leukemia10.2
17gallbladder cancer10.2
18leukemia10.2
19lymphoblastic leukemia10.2
20juvenile myelomonocytic leukemia10.2
21aplastic anemia10.2
22childhood leukemia10.2
23distal 17p13.3 microdeletion syndrome10.1
24parkinson's disease10.1
25neuroblastoma10.1
26lissencephaly 110.1
27wolff-parkinson-white syndrome10.1
28clubfoot10.1
29multiple myeloma10.1
30myelofibrosis10.1
31myeloma10.1
32sarcoma10.1
33craniometaphyseal dysplasia, autosomal dominant10.1
34epidermolysa bullosa simplex with muscular dystrophy10.1
35medulloblastoma10.0PAFAH1B1, HIC1
36williams-beuren syndrome10.0
37trichorhinophalangeal syndrome type ii10.0
38cri-du-chat syndrome10.0
391p36 deletion syndrome10.0
40smith magenis syndrome10.0
411q21.1 microdeletion10.0
429q22.3 microdeletion10.0
4315q24 microdeletion syndrome10.0
44kleefstra syndrome10.0
45mitochondrial dna deletion syndromes10.0
46phelan-mcdermid syndrome10.0
47y chromosome infertility10.0
48chromosome 10p deletion10.0
49chromosome 11p deletion10.0
50chromosome 11q deletion10.0

Graphical network of the top 20 diseases related to Miller-Dieker Syndrome:



Diseases related to miller-dieker syndrome

Clinical Features for Miller-Dieker Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

247200

Clinical synopsis from OMIM:

247200

Symptoms:

48 (show all 18)
  • 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
  • polyhydramnios
  • structural anomalies of the cardio-circulatory system
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • 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
  • high forehead

Drugs & Therapeutics for Miller-Dieker Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Miller-Dieker Syndrome

Drug clinical trials:

Search ClinicalTrials for Miller-Dieker Syndrome

Search NIH Clinical Center for Miller-Dieker Syndrome

Search CenterWatch for Miller-Dieker Syndrome

Genetic Tests for Miller-Dieker Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Miller-Dieker Syndrome:

id Genetic test Affiliating Genes
1 Miller-Dieker Syndrome20
2 Miller Dieker Syndrome22

Anatomical Context for Miller-Dieker Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Miller-Dieker Syndrome:

32
Brain, Skin, Cortex

Animal Models for Miller-Dieker Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Miller-Dieker Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9PITPNA, CRK, HIC1, DPH1, MNT, SERPINF1
2MP:00053848.0RPA1, NDEL1, PITPNA, SRR, PAFAH1B1, YWHAE
3MP:00036317.4NDEL1, CDK5, PFN1, YWHAE, PAFAH1B1, SRR
4MP:00107687.1RPA1, NDEL1, PITPNA, CRK, PAFAH1B1, INPP5K

Publications for Miller-Dieker Syndrome

About this section

Genetic Variations for Miller-Dieker Syndrome

About this section

Expression for genes affiliated with Miller-Dieker Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Miller-Dieker Syndrome

Search GEO for disease gene expression data for Miller-Dieker Syndrome.

Pathways for genes affiliated with Miller-Dieker Syndrome

About this section
Sources:
37NCBI BioSystems Database, 51QIAGEN
See all sources

Pathways related to Miller-Dieker Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PAFAH1B1, YWHAE, CDK5, NDEL1
2
Hide members
9.3YWHAE, CDK5, CRK, NDEL1

Compounds for genes affiliated with Miller-Dieker Syndrome

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Miller-Dieker Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate44 2410.5INPP5K, PITPNA, RPA1
2lipid448.2SERPINF2, PITPNA, CRK, CDK5, PFN1, INPP5K

GO Terms for genes affiliated with Miller-Dieker Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Miller-Dieker Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell leading edgeGO:03125210.0PAFAH1B1, NDEL1
2kinesin complexGO:0058719.6NDEL1, YWHAE, PAFAH1B1
3cytoplasmGO:0057376.9SRR, RPA1, PITPNA, CRK, DOC2B, HIC1

Biological processes related to Miller-Dieker Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1nuclear envelope disassemblyGO:05108110.3NDEL1, PAFAH1B1
2retrograde axon cargo transportGO:00809010.2NDEL1, PAFAH1B1
3regulation of Rho GTPase activityGO:03231910.2CRK, PAFAH1B1
4vesicle transport along microtubuleGO:04749610.1NDEL1, PAFAH1B1
5positive regulation of axon extensionGO:0457739.9NDEL1, PAFAH1B1
6layer formation in cerebral cortexGO:0218199.9CDK5, PAFAH1B1
7positive regulation of calcium ion-dependent exocytosisGO:0459569.8CDK5, DOC2B
8hippocampus developmentGO:0217669.8CDK5, YWHAE, PAFAH1B1
9mitotic cell cycleGO:0002789.6NDEL1, RPA1, YWHAE, PAFAH1B1
10neuron migrationGO:0017649.6PAFAH1B1, YWHAE, CDK5, NDEL1
11actin cytoskeleton organizationGO:0300369.5PFN1, INPP5K, PAFAH1B1
12cell proliferationGO:0082839.0SERPINF1, MXD1, CDK5, DPH1

Products for genes affiliated with Miller-Dieker Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Miller-Dieker Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet