MCID: MLL005
MIFTS: 50

Miller-Dieker Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Miller-Dieker Syndrome

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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 based summary: Miller-Dieker Syndrome, also known as lissencephaly due to 17p13.3 deletion, is related to lissencephaly and myelodysplastic syndrome, and has symptoms including abnormality of the mouth, epicanthus and high forehead. 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 Response to elevated platelet cytosolic Ca2+. The compounds txb2 and lipid have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related mouse phenotypes are growth/size/body and mortality/aging.

NIH Rare Diseases:41 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

Aliases & Classifications for Miller-Dieker Syndrome

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Miller-Dieker Syndrome, Aliases & Descriptions:

Name: Miller-Dieker Syndrome 41 20 21 47 22
Lissencephaly Due to 17p13.3 Deletion 41 47
Miller-Dieker Lissencephaly Syndrome 41 21
Telomeric Deletion 17p 41 47
Monosomy 17p13.3 41 47
 
Classical Lissencephaly Syndrome 21
Classical Lissencephaly 60
Miller Dieker Syndrome 60
Mdls 41
Mds 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
miller-dieker syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 531
MESH via Orphanet34 D054221
ICD10 via Orphanet26 Q04.3
UMLS via Orphanet61 C0265219

Related Diseases for Miller-Dieker Syndrome

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



Diseases related to miller-dieker syndrome

Symptoms for Miller-Dieker Syndrome

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Symptoms:

 47 (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

HPO human phenotypes related to Miller-Dieker Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 abnormality of the mouth hallmark (90%) HP:0000153
2 epicanthus hallmark (90%) HP:0000286
3 high forehead hallmark (90%) HP:0000348
4 anteverted nares hallmark (90%) HP:0000463
5 seizures hallmark (90%) HP:0001250
6 cerebral cortical atrophy hallmark (90%) HP:0002120
7 abnormality of neuronal migration hallmark (90%) HP:0002269
8 eeg abnormality hallmark (90%) HP:0002353
9 short nose hallmark (90%) HP:0003196
10 polyhydramnios typical (50%) HP:0001561
11 abnormality of the cardiovascular system typical (50%) HP:0001626
12 nephropathy occasional (7.5%) HP:0000112
13 sacral dimple occasional (7.5%) HP:0000960
14 omphalocele occasional (7.5%) HP:0001539
15 incoordination occasional (7.5%) HP:0002311
16 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
17 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
18 microcephaly HP:0000252
19 lissencephaly HP:0001339
20 abnormality of cardiac morphology HP:0001627
21 frontal bossing HP:0002007
22 midface retrusion HP:0011800

Drugs & Therapeutics for Miller-Dieker Syndrome

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Drug clinical trials:

Search ClinicalTrials for Miller-Dieker Syndrome

Search NIH Clinical Center for Miller-Dieker Syndrome

Genetic Tests for Miller-Dieker Syndrome

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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

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MalaCards organs/tissues related to Miller-Dieker Syndrome:

31
Brain, Cortex

Animal Models for Miller-Dieker Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Miller-Dieker Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1CRK, PAFAH1B1, PFN1, HIC1, INPP5K
2MP:00107687.4INPP5K, YWHAE, HIC1, PFN1, PAFAH1B1, CRK
3MP:00036317.2CRK, YWHAE, HIC1, SERPINF1, PFN1, PAFAH1B1
4MP:00053767.2INPP5K, YWHAE, SERPINF2, PFN1, SRR, CRK

Publications for Miller-Dieker Syndrome

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Articles related to Miller-Dieker Syndrome:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome. (24895408)
2014
2
Miller-dieker syndrome associated with congenital lobar emphysema. (25032053)
2014
3
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome. (23301919)
2013
4
Brain and spinal manifestations of Miller-Dieker syndrome. (23634385)
2013
5
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. (23933666)
2013
6
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
7
Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome. (18989166)
2008
8
Miller--Dieker syndrome, type 1 lissencephaly. (18379572)
2008
9
Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis. (17850357)
2007
10
Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome. (17437911)
2007
11
Neocortical neuronal arrangement in Miller Dieker syndrome. (16456669)
2006
12
Miller-Dieker syndrome associated with tight filum terminale. (16504794)
2006
13
Interneuron deficits in patients with the Miller-Dieker syndrome. (15739099)
2005
14
Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome. (15028671)
2004
15
Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. (15586369)
2004
16
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. (12621583)
2003
17
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. (12796778)
2003
18
Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. (12905154)
2003
19
Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome. (10655551)
2000
20
A case of Miller-Dieker syndrome in a family with neurofibromatosis type I. (10787042)
2000
21
Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome. (10072440)
1999
22
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. (10406660)
1999
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
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
29
Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. (8825053)
1996
30
Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359)
1995
31
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3) (8585563)
1995
32
Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome. (7634541)
1995
33
Congenital complete atrioventricular block in an infant with Miller-Dieker syndrome. (7991442)
1994
34
Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. (8249946)
1993
35
Miller-Dieker syndrome with ring chromosome 17. (1711306)
1991
36
Clinical and molecular diagnosis of Miller-Dieker syndrome. (1671808)
1991
37
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. (1897521)
1991
38
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
39
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. (2227942)
1990
40
The Miller-Dieker syndrome: a case report and review of the literature. (2666671)
1989
41
Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. (3391613)
1988
42
Magnetic resonance imaging of the cerebral malformation in Miller-Dieker syndrome. A case report. (3206323)
1988
43
Miller-Dieker syndrome and monosomy 17p13: a new case. (3417298)
1988
44
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. (2903661)
1988
45
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. (3189330)
1988
46
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. (3963054)
1986
47
Miller-Dieker syndrome: a disorder affecting specific pathways of neuronal migration. (3960322)
1986
48
Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome. (3993677)
1985
49
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. (6745939)
1984
50
Miller-Dieker syndrome: lissencephaly and monosomy 17p. (6834189)
1983

Variations for Miller-Dieker Syndrome

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Expression for genes affiliated with Miller-Dieker Syndrome

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

Pathways for genes affiliated with Miller-Dieker Syndrome

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Pathways related to Miller-Dieker Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PAFAH1B1, YWHAE
2
Show member pathways
9.4PFN1, SERPINF2
39.3CRK, YWHAE
4
Show member pathways
9.2CRK, PFN1
5
Show member pathways
8.6SERPINF2, PFN1, CRK

Compounds for genes affiliated with Miller-Dieker Syndrome

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43Novoseek
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Compounds related to Miller-Dieker Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1txb2439.5PAFAH1B1, SERPINF2
2lipid437.7CRK, PAFAH1B1, PFN1, SERPINF2, INPP5K
3serine437.4SERPINF1, SERPINF2, PAFAH1B1, SRR, CRK

GO Terms for genes affiliated with Miller-Dieker Syndrome

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Cellular components related to Miller-Dieker Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:00058719.7PAFAH1B1, YWHAE
2melanosomeGO:00424709.6SERPINF1, YWHAE
3extracellular vesicular exosomeGO:00700628.0CRK, PAFAH1B1, PFN1, SERPINF1, YWHAE
4cytosolGO:00058297.7INPP5K, YWHAE, PFN1, PAFAH1B1, CRK

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1hippocampus developmentGO:00217669.9PAFAH1B1, YWHAE
2cerebral cortex developmentGO:00219879.9PAFAH1B1, YWHAE
3negative regulation of stress fiber assemblyGO:00514979.8PFN1, INPP5K
4positive regulation of stress fiber assemblyGO:00514969.6PFN1, SERPINF2
5regulation of Rho GTPase activityGO:00323199.5CRK, PAFAH1B1
6agingGO:00075689.5SRR, SERPINF1
7regulation of proteolysisGO:00301629.5SERPINF1, SERPINF2
8neuron migrationGO:00017649.5PAFAH1B1, YWHAE
9actin cytoskeleton organizationGO:00300369.5PAFAH1B1, PFN1, INPP5K
10platelet degranulationGO:00025769.4SERPINF2, PFN1
11negative regulation of endopeptidase activityGO:00109519.2SERPINF2, SERPINF1
12platelet activationGO:00301688.9SERPINF2, PFN1, CRK
13blood coagulationGO:00075968.7CRK, PFN1, SERPINF2

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

idNameGO IDScoreTop Affiliating Genes
1phosphoprotein bindingGO:00512199.8PAFAH1B1, YWHAE
2histone deacetylase bindingGO:00428269.7HIC1, YWHAE
3protein homodimerization activityGO:00428039.1SRR, PAFAH1B1, SERPINF2
4serine-type endopeptidase inhibitor activityGO:00048679.0SERPINF1, SERPINF2
5protein bindingGO:00055157.1INPP5K, YWHAE, HIC1, SERPINF2, PFN1, PAFAH1B1

Products for genes affiliated with Miller-Dieker Syndrome

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Sources for Miller-Dieker Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet