MDS
MCID: MLL005
MIFTS: 60

Miller-Dieker Syndrome (MDS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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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 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 Response to elevated platelet cytosolic Ca2+. The compounds txb2 and lipid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin, and related mouse phenotypes are growth/size/body and mortality/aging.

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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Miller-Dieker Syndrome, Aliases & Descriptions:

Name: Miller-Dieker Syndrome 42 20 22 21 48 46
Miller-Dieker Lissencephaly Syndrome 42 21 46 44
Classical Lissencephaly Syndrome 21 62
Lissencephaly Due to 17p13.3 Deletion 48
Lissencephaly Syndrome, Miller-Dieker 62
Gene Deletion Abnormality 62
 
Telomeric Deletion 17p 48
Miller Dieker Syndrome 62
Monosomy 17p13.3 48
Mdls 42
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):

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


External Ids:

OMIM46 247200
MESH via Orphanet35 D054221
ICD10 via Orphanet26 Q04.3
UMLS via Orphanet63 C0265219

Related Diseases for Miller-Dieker Syndrome

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

(show top 50)    (show all 176)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly30.6YWHAE, PAFAH1B1, CRK
2myelodysplastic syndromes10.8
3muscular dystrophy10.6
4neuronitis10.5
5myeloid leukemia10.5
6acute myeloid leukemia10.5
7polyhydramnios10.4
8acute lymphoblastic leukemia10.3
9leukemia10.3
10smith-lemli-opitz syndrome10.3
11vacterl association10.3
12prader-willi syndrome10.3
13neurofibromatosis10.3
14cerebritis10.3
15atrioventricular block10.3
16gallbladder cancer10.3
17lymphoblastic leukemia10.3
18congenital lobar emphysema10.3
19pachygyria10.3
20ring chromosome 1710.3
21omphalocele10.3
22acute leukemia10.3
23aplastic anemia10.3
24juvenile myelomonocytic leukemia10.3
25distal 17p13.3 microdeletion syndrome10.2
26refractory anemia10.2
27parkinson's disease10.1
28neuroblastoma10.1
29lissencephaly 110.1
30cerebral palsy10.1
31chronic myelomonocytic leukemia10.1
32hematopoietic stem cell transplantation10.1
33multiple myeloma10.1
34myelofibrosis10.1
35wilms tumor10.1
36wolff-parkinson-white syndrome10.1
37clubfoot10.1
38walker-warburg syndrome10.1
39myeloma10.1
40sarcoma10.1
41craniometaphyseal dysplasia, autosomal dominant10.1
42epidermolysa bullosa simplex with muscular dystrophy10.1
43osteoporosis10.0
44thrombocytosis10.0
45frozen shoulder10.0
46myxopapillary ependymoma10.0
47porphyria10.0
48sarcoidosis10.0
49synovial sarcoma10.0
50mpv17-related hepatocerebral mitochondrial dna depletion syndrome10.0

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 by clinical synopsis from OMIM:

247200

Clinical features from OMIM:

247200

Symptoms:

48 (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 70)
id Description Frequency HPO Source Accession
1 intellectual disability obligate (100%) HP:0001249
2 motor delay obligate (100%) HP:0001270
3 posteriorly rotated ears hallmark (90%) HP:0000358
4 frontal bossing hallmark (90%) HP:0002007
5 abnormality of the mouth hallmark (90%) HP:0000153
6 epicanthus hallmark (90%) HP:0000286
7 high forehead hallmark (90%) HP:0000348
8 anteverted nares hallmark (90%) HP:0000463
9 seizures hallmark (90%) HP:0001250
10 cerebral cortical atrophy hallmark (90%) HP:0002120
11 abnormality of neuronal migration hallmark (90%) HP:0002269
12 eeg abnormality hallmark (90%) HP:0002353
13 short nose hallmark (90%) HP:0003196
14 polyhydramnios typical (50%) HP:0001561
15 abnormality of the cardiovascular system typical (50%) HP:0001626
16 lissencephaly 27% HP:0001339
17 micrognathia 26% HP:0000347
18 short nose 26% HP:0003196
19 thick upper lip vermilion 25% HP:0000215
20 wide nasal bridge 24% HP:0000431
21 microcephaly 17% HP:0000252
22 hypoplasia of the corpus callosum 17% HP:0002079
23 cavum septum pellucidum 17% HP:0002389
24 low-set ears 14% HP:0000369
25 sacral dimple 14% HP:0000960
26 deep palmar crease 14% HP:0006191
27 midline brain calcifications 13% HP:0007045
28 clinodactyly of the 5th finger 10% HP:0004209
29 epicanthus 8% HP:0000286
30 intrauterine growth retardation 8% HP:0001511
31 nephropathy occasional (7.5%) HP:0000112
32 sacral dimple occasional (7.5%) HP:0000960
33 omphalocele occasional (7.5%) HP:0001539
34 incoordination occasional (7.5%) HP:0002311
35 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
36 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
37 polyhydramnios 6% HP:0001561
38 malformation of the heart and great vessels 6% HP:0002564
39 joint contracture of the hand 6% HP:0009473
40 single transverse palmar crease rare (5%) HP:0000954
41 microcephaly HP:0000252
42 lissencephaly HP:0001339
43 abnormality of cardiac morphology HP:0001627
44 frontal bossing HP:0002007
45 midface retrusion HP:0011800
46 autosomal dominant inheritance HP:0000006
47 inguinal hernia HP:0000023
48 cryptorchidism HP:0000028
49 pelvic kidney HP:0000125
50 cleft palate HP:0000175
51 thin upper lip vermilion HP:0000219
52 cataract HP:0000518
53 upslanted palpebral fissure HP:0000582
54 delayed eruption of teeth HP:0000684
55 seizures HP:0001250
56 pachygyria HP:0001302
57 contiguous gene syndrome HP:0001466
58 failure to thrive HP:0001508
59 intrauterine growth retardation HP:0001511
60 omphalocele HP:0001539
61 decreased fetal movement HP:0001558
62 abnormality of metabolism/homeostasis HP:0001939
63 recurrent aspiration pneumonia HP:0002100
64 duodenal atresia HP:0002247
65 heterotopia HP:0002282
66 progressive spastic paraplegia HP:0007020
67 infantile muscular hypotonia HP:0008947
68 polydactyly HP:0010442
69 camptodactyly HP:0012385
70 infantile spasms HP:0012469

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:

32
Brain, Cortex, Skin

Animal Models for Miller-Dieker Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Miller-Dieker Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1CRK, PAFAH1B1, PFN1, HIC1, INPP5K
2MP:00107687.4PAFAH1B1, PFN1, HIC1, YWHAE, INPP5K, CRK
3MP:00036317.2YWHAE, CRK, SRR, PAFAH1B1, PFN1, SERPINF1
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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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

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

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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Sources:
44Novoseek
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Compounds related to Miller-Dieker Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1txb2449.5PAFAH1B1, SERPINF2
2lipid447.7CRK, PAFAH1B1, PFN1, SERPINF2, INPP5K
3serine447.4SERPINF1, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:0058719.7PAFAH1B1, YWHAE
2melanosomeGO:0424709.6YWHAE, SERPINF1
3extracellular vesicular exosomeGO:0700628.0YWHAE, SERPINF1, PFN1, PAFAH1B1, CRK
4cytosolGO:0058297.7CRK, INPP5K, YWHAE, PFN1, PAFAH1B1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1hippocampus developmentGO:0217669.9PAFAH1B1, YWHAE
2cerebral cortex developmentGO:0219879.9PAFAH1B1, YWHAE
3negative regulation of stress fiber assemblyGO:0514979.8PFN1, INPP5K
4positive regulation of stress fiber assemblyGO:0514969.6PFN1, SERPINF2
5regulation of Rho GTPase activityGO:0323199.5CRK, PAFAH1B1
6agingGO:0075689.5SRR, SERPINF1
7regulation of proteolysisGO:0301629.5SERPINF1, SERPINF2
8neuron migrationGO:0017649.5PAFAH1B1, YWHAE
9actin cytoskeleton organizationGO:0300369.5PAFAH1B1, PFN1, INPP5K
10platelet degranulationGO:0025769.4SERPINF2, PFN1
11negative regulation of endopeptidase activityGO:0109519.2SERPINF2, SERPINF1
12platelet activationGO:0301688.9SERPINF2, PFN1, CRK
13blood coagulationGO:0075968.7CRK, PFN1, SERPINF2

Molecular functions related to Miller-Dieker Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphoprotein bindingGO:0512199.8YWHAE, PAFAH1B1
2histone deacetylase bindingGO:0428269.7YWHAE, HIC1
3protein homodimerization activityGO:0428039.1PAFAH1B1, SRR, SERPINF2
4serine-type endopeptidase inhibitor activityGO:0048679.0SERPINF1, SERPINF2
5protein bindingGO:0055157.1INPP5K, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet