MDS
MCID: MLL005
MIFTS: 57

Miller-Dieker Syndrome (MDS) malady

Neuronal, Fetal categories

Summaries for Miller-Dieker Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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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 myelodysplastic syndromes, and has symptoms including high forehead, epicanthic folds and short/small nose. 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, cortex and heart, and related mouse phenotypes are digestive/alimentary and cellular.

NIH Rare Diseases:43 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:47 247200

Aliases & Classifications for Miller-Dieker Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
miller-dieker syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

miller-dieker syndrome 43 20 22 21 49 47
miller-dieker lissencephaly syndrome 43 21 47 45
lissencephaly due to 17p13.3 deletion 49
classical lissencephaly syndrome 21
gene deletion abnormality 61
telomeric deletion 17p 49
miller dieker syndrome 61
monosomy 17p13.3 49
mdls 43
mds 21


External Ids:

OMIM47 247200
MESH via Orphanet36 D054221
ICD10 via Orphanet26 Q04.3
SNOMED-CT via Orphanet58 253148005
UMLS via Orphanet62 C0265219

Related Diseases for Miller-Dieker Syndrome

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 242)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly31.1NDEL1, CRK, CDK5, YWHAE, PAFAH1B1
2myelodysplastic syndromes10.7
3n syndrome10.7
4micro syndrome10.6
5lissencephaly, isolated10.6
6acute myeloid leukemia10.4
7lissencephaly 110.4
8polyhydramnios10.4
9atrioventricular block10.3
10vacterl association10.3
11smith-lemli-opitz syndrome10.3
12neurofibromatosis10.3
13prader-willi syndrome10.3
14acute leukemia10.3
153-m syndrome10.3
16pachygyria10.3
17chromosome 17p deletion10.3
18chromosome 17p13.1 deletion syndrome10.3
19omphalocele10.3
20juvenile myelomonocytic leukemia10.2
21t-cell leukemia10.2
22aplastic anemia10.2
23refractory anemia10.2
24distal 17p13.3 microdeletion syndrome10.2
25acute t cell leukemia10.1
26myelodysplastic syndrome, somatic10.1
27hematopoietic stem cell transplantation10.1
28parkinson's disease10.1
29wolff-parkinson-white syndrome10.1
30clubfoot10.1
31craniometaphyseal dysplasia, autosomal dominant10.1
32wilms tumor10.1
33acute myelomonocytic leukemia10.1
34chronic myelomonocytic leukemia10.1
35epidermolysa bullosa simplex with muscular dystrophy10.1
36walker-warburg syndrome10.0
37thrombocytosis10.0
38facioscapulohumeral muscular dystrophy10.0
39peyronie's disease10.0
40synovial sarcoma10.0
41char syndrome10.0
42acute myeloid leukemia, childhood10.0
43slipped capital femoral epiphysis10.0
44thromboembolism10.0
45lumbar disc herniation10.0
46venous thromboembolism10.0
47lumbar disc disease10.0
48williams-beuren syndrome10.0
49trichorhinophalangeal syndrome type ii10.0
50cri-du-chat syndrome10.0

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



Diseases related to miller-dieker syndrome

Clinical Features for Miller-Dieker Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

247200

Clinical synopsis from OMIM:

247200

Symptoms:

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

Drugs & Therapeutics for Miller-Dieker Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Miller-Dieker Syndrome:

33
Brain, Cortex, Heart, Smooth muscle, Skin

Animal Models for Miller-Dieker Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Miller-Dieker Syndrome:

37
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

Sources:
51PubMed
See all sources

Articles related to Miller-Dieker Syndrome:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome. (23301919)
2013
2
Brain and spinal manifestations of Miller-Dieker syndrome. (23634385)
2013
3
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. (23933666)
2013
4
Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3. (21239872)
2011
5
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
6
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
7
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. (19520700)
2009
8
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. (19584063)
2009
9
Classical (type I) lissencephaly and Miller-Dieker syndrome. (19302951)
2009
10
Miller--Dieker syndrome, type 1 lissencephaly. (18379572)
2008
11
Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis. (17850357)
2007
12
Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome. (17437911)
2007
13
Neocortical neuronal arrangement in Miller Dieker syndrome. (16456669)
2006
14
Gallbladder cancer in a patient with Miller-Dieker syndrome. (16373307)
2006
15
Interneuron deficits in patients with the Miller-Dieker syndrome. (15739099)
2005
16
Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. (12905154)
2003
17
An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome. (12404102)
2002
18
A case of Miller-Dieker syndrome in a family with neurofibromatosis type I. (10787042)
2000
19
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
20
Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome. (10072440)
1999
21
Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. (10398263)
1999
22
Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome. (9860301)
1998
23
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. (9063734)
1997
24
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (9063735)
1997
25
Omphalocele in Miller-Dieker syndrome: expanding the phenotype. (9096760)
1997
26
Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome. (9217231)
1997
27
Miller-Dieker syndrome with microdeletion of chromosome 17p13.3: report of one case. (9473821)
1997
28
Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization. (9061768)
1997
29
14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region. (8858348)
1996
30
Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. (8825053)
1996
31
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359)
1995
32
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3) (8585563)
1995
33
Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome. (7634541)
1995
34
Congenital complete atrioventricular block in an infant with Miller-Dieker syndrome. (7991442)
1994
35
Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. (8249946)
1993
36
Miller-Dieker syndrome with ring chromosome 17. (1711306)
1991
37
Clinical and molecular diagnosis of Miller-Dieker syndrome. (1671808)
1991
38
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. (1897521)
1991
39
Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome. (1968707)
1990
40
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. (2227942)
1990
41
The Miller-Dieker syndrome: a case report and review of the literature. (2666671)
1989
42
Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). (2596525)
1989
43
Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. (3391613)
1988
44
Magnetic resonance imaging of the cerebral malformation in Miller-Dieker syndrome. A case report. (3206323)
1988
45
Miller-Dieker syndrome and monosomy 17p13: a new case. (3417298)
1988
46
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. (2903661)
1988
47
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. (3963054)
1986
48
Miller-Dieker syndrome: a disorder affecting specific pathways of neuronal migration. (3960322)
1986
49
Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome. (3993677)
1985
50
The MIller-Dieker syndrome. (7402813)
1980

Genetic Variations for Miller-Dieker Syndrome

Expression for genes affiliated with Miller-Dieker Syndrome

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

Sources:
38NCBI BioSystems Database, 52QIAGEN
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

Sources:
45Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate45 2410.5INPP5K, PITPNA, RPA1
2lipid458.2SERPINF2, PITPNA, CRK, CDK5, PFN1, INPP5K

GO Terms for genes affiliated with Miller-Dieker Syndrome

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

Products for genes affiliated with Miller-Dieker Syndrome

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Sources for Miller-Dieker Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet