MCID: MLL005
MIFTS: 50

Miller-Dieker Syndrome malady

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

Aliases & Classifications for Miller-Dieker Syndrome

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Sources:
45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Miller-Dieker Syndrome:

Name: Miller-Dieker Syndrome 45 22 23 51 24
Miller-Dieker Lissencephaly Syndrome 45 22 23
Mds 22 23
Lissencephaly Due to 17p13.3 Deletion 51
Classical Lissencephaly Syndrome 23
 
Classical Lissencephaly 65
Telomeric Deletion 17p 51
Miller Dieker Syndrome 65
Monosomy 17p13.3 51
Mdls 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
miller-dieker syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 531
ICD10 via Orphanet28 Q04.3
MESH via Orphanet37 D054221
UMLS via Orphanet66 C0265219

Summaries for Miller-Dieker Syndrome

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Genetics Home Reference:23 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 miller-dieker lissencephaly syndrome, is related to myelodysplastic syndrome and aplastic anemia, and has symptoms including high forehead, epicanthic folds and short/small nose. An important gene associated with Miller-Dieker Syndrome is PAFAH1B1 (Platelet-Activating Factor Acetylhydrolase 1b, Regulatory Subunit 1 (45kDa)), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and LKB1 signaling events. Affiliated tissues include brain, cortex and testes, and related mouse phenotypes are embryogenesis and nervous system.

NIH Rare Diseases:45 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

Related Diseases for Miller-Dieker Syndrome

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

(show top 50)    (show all 733)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome11.1
2aplastic anemia11.0
3bone marrow cancer11.0
4pre-malignant neoplasm11.0
5myeloid leukemia10.9
6acute leukemia10.9
7chronic monocytic leukemia10.9
8leukemia, acute myeloid10.9
9bone cancer10.9
10acute non lymphoblastic leukemia10.9
11adult syndrome10.9
12lissencephaly10.8
13chronic leukemia10.7
14refractory hematologic cancer10.6
15hematologic cancer10.6
16leukemia, chronic myeloid, somatic10.6
17chronic myeloproliferative disease10.6
18myelodysplastic myeloproliferative cancer10.6
19bone structure disease10.6
20chronic myelocytic leukemia10.6
21miller-dieker lissencephaly syndrome10.6
22neuronitis10.6
23hematopoietic stem cell transplantation10.6
24blood platelet disease10.6
25good syndrome10.6
26wells syndrome10.6
27deficiency anemia10.5
28vein disease10.5
29chronic myelomonocytic leukemia10.5
30bone marrow failure syndrome 210.5
31acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)10.5
32muscular dystrophy10.5
33polyhydramnios10.5
34acute t cell leukemia10.5
35macrocytic anemia, refractory, due to 5q deletion, somatic10.4
36mucolipidosis ii alpha/beta10.4
37chromosomal disease10.4
38farber lipogranulomatosis10.4
39hepatocellular carcinoma10.4
40thrombocytosis10.4
41acute graft versus host disease10.4
42bone marrow failure syndrome 110.4
43n syndrome10.4
44thrombocytopenia10.4
45plasma cell neoplasm10.4
46lymphoid leukemia10.4
47bone lymphoma10.4
48secondary syphilis10.4
49wisconsin syndrome10.4
50refractory anemia10.4

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:

 51 (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:

id Description Frequency HPO Source Accession
1 microcephaly HP:0000252
2 lissencephaly HP:0001339
3 abnormality of cardiac morphology HP:0001627
4 frontal bossing HP:0002007
5 hypoplasia of midface HP:0011800

Drugs & Therapeutics for Miller-Dieker Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770

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 Syndrome22 PAFAH1B1, YWHAE
2 Miller Dieker Syndrome24

Anatomical Context for Miller-Dieker Syndrome

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MalaCards organs/tissues related to Miller-Dieker Syndrome:

33
Brain, Cortex, Testes

Animal Models for Miller-Dieker Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Miller-Dieker Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4HIC1, MYC, PAFAH1B1, PFN1, VPS53
2MP:00036317.2CRK, HIC1, MYC, PAFAH1B1, PFN1, SERPINF1
3MP:00053786.8CRK, HIC1, INPP5K, MYC, PAFAH1B1, PFN1
4MP:00107686.6CRK, HIC1, INPP5K, MYC, PAFAH1B1, PFN1

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
29.7MYC, YWHAE
39.3CRK, YWHAE
49.2CRK, PFN1

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:000587110.1PAFAH1B1, YWHAE
2axonGO:00304249.3PAFAH1B1, SERPINF1, YWHAE
3perinuclear region of cytoplasmGO:00484718.5INPP5K, PAFAH1B1, SERPINF1, VPS53

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of stress fiber assemblyGO:00514979.9INPP5K, PFN1
2hippocampus developmentGO:00217669.8PAFAH1B1, YWHAE
3cerebral cortex developmentGO:00219879.8PAFAH1B1, YWHAE
4actin cytoskeleton organizationGO:00300368.9INPP5K, PAFAH1B1, PFN1

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

idNameGO IDScoreTop Affiliating Genes
1phosphoprotein bindingGO:00512199.8PAFAH1B1, YWHAE
2protein complex bindingGO:00324039.1MYC, PAFAH1B1, YWHAE

Sources for Miller-Dieker Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet