Miller-Dieker Lissencephaly Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MLL018 MIFTS: 45	Miller-Dieker Lissencephaly Syndrome malady Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
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Aliases & Classifications for Miller-Dieker Lissencephaly Syndrome

Sources:
¹¹Disease Ontology, ¹³DISEASES, ²⁴GeneTests, ²⁵Genetics Home Reference, ²⁷GTR, ³⁰ICD10, ³¹ICD10 via Orphanet, ³⁷MedGen, ³⁹MeSH, ⁴⁰MESH via Orphanet, ⁴⁸NIH Rare Diseases, ⁵⁰Novoseek, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Miller-Dieker Lissencephaly Syndrome:

Name: Miller-Dieker Lissencephaly Syndrome ⁵² ¹¹ ⁴⁸ ²⁴ ²⁵ ⁷⁰ ⁵⁰ ¹³

Miller-Dieker Syndrome ¹¹ ⁴⁸ ²⁴ ²⁵ ⁵⁴ ²⁷

Mds ¹¹ ²⁴ ²⁵

Mdls ⁴⁸ ⁷⁰

Lissencephaly Due to 17p13.3 Deletion ⁵⁴

Classical Lissencephaly Syndrome ²⁵

Classical Lissencephaly ⁶⁸

Telomeric Deletion 17p ⁵⁴

Miller Dieker Syndrome ⁶⁸

Monosomy 17p13.3 ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁵⁴

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

HPO:

⁶⁴

miller-dieker lissencephaly syndrome:
Inheritance: autosomal dominant inheritance, contiguous gene syndrome

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³⁰

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁴

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM⁵² 247200

Disease Ontology¹¹ DOID:0060469

ICD10³⁰ Q04.3

Orphanet⁵⁴ ORPHA531

MESH via Orphanet⁴⁰ D054221

UMLS via Orphanet⁶⁹ C0265219

ICD10 via Orphanet³¹ Q04.3

MedGen³⁷ C0265219

MeSH³⁹ D054221

UMLS⁶⁸ C0265219

Summaries for Miller-Dieker Lissencephaly Syndrome

Sources:
¹¹Disease Ontology, ²⁵Genetics Home Reference, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

OMIM:⁵² Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the... (247200) more...

MalaCards based summary: Miller-Dieker Lissencephaly Syndrome, also known as miller-dieker syndrome, is related to myelodysplastic syndrome and muscular dystrophy, and has symptoms including intellectual disability, motor delay and epicanthus. An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are IGF1 pathway and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, cortex and skin.

Disease Ontology:¹¹ A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.

UniProtKB/Swiss-Prot:⁷⁰ Miller-Dieker lissencephaly syndrome: A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition.

Genetics Home Reference:²⁵ 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.

NIH Rare Diseases:⁴⁸ Miller-Dieker syndrome (MDS) is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. Very few affected children survive beyond childhood. MDS is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p). Most cases are not inherited and occur randomly. In some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent. Treatment is based on the symptoms in each person and aims to prevent complications and control seizures. Last updated: 5/18/2016

Related Diseases for Miller-Dieker Lissencephaly Syndrome

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

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

(show top 50) (show all 140)

id	Related Disease	Score	Top Affiliating Genes
1	myelodysplastic syndrome	11.9
2	muscular dystrophy	11.5
3	lissencephaly 1	11.3
4	epidermolysis bullosa simplex with muscular dystrophy	11.0
5	distal 17p13.3 microdeletion syndrome	10.9
6	muscular dystrophy-dystroglycanopathy , type a, 1	10.9
7	macrocytic anemia, refractory, due to 5q deletion, somatic	10.8
8	menkes disease	10.8
9	epidermolysa bullosa simplex with muscular dystrophy	10.8
10	leukemia, acute myelomonocytic, somatic, somatic	10.7
11	muscular dystrophy, congenital	10.7
12	reynolds syndrome	10.7
13	facioscapulohumeral muscular dystrophy 1	10.7
14	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	10.7
15	epidermolysis bullosa simplex with pyloric atresia	10.7
16	metatropic dysplasia	10.7
17	spondyloepimetaphyseal dysplasia with joint laxity, type 2	10.7
18	myelodysplasia and leukemia syndrome with monosomy 7	10.7
19	adrenomyodystrophy	10.7
20	atypical chronic myeloid leukemia	10.7
21	meniere's disease	10.7
22	lama2-related muscular dystrophy	10.7
23	mpv17-related hepatocerebral mitochondrial dna depletion syndrome	10.7
24	ocular muscular dystrophy	10.7
25	ophthalmoplegic muscular dystrophy	10.7
26	emd-related emery-dreifuss muscular dystrophy, x-linked	10.7
27	subaortic stenosis, membranous	10.7	PAFAH1B1, YWHAE
28	adenoiditis	10.5	FBXW2, LY96
29	epithelial and subepithelial dystrophy	10.5	CRK, PAFAH1B1, YWHAE
30	glandular tularemia	10.5	FBXW2, LY96
31	hypertrophic pyloric stenosis	10.5	LY86, LY96
32	lissencephaly	10.4
33	urethritis	10.4	LY86, LY96
34	gerstmann syndrome	10.4	GPX4, LY96
35	hyperlucent lung	10.4	LY86, LY96
36	hyperphosphatemia	10.4	PAFAH1B1, TUBA1A, YWHAE
37	infant botulism	10.3	FBXW2, LY96
38	leukemia	10.3
39	gastric antral vascular ectasia	10.2	NDEL1, PAFAH1B1, TUBA1A
40	typhoidal tularemia	10.2	FBXW2, LY96
41	retinitis pigmentosa	10.1
42	retinitis	10.1
43	polyhydramnios	10.1
44	pseudopelade of brocq	10.1	PAFAH1B1, TUBA1A
45	myeloid leukemia	10.1
46	aplastic anemia	9.8
47	acute leukemia	9.8
48	hematopoietic stem cell transplantation	9.8
49	penile cancer	9.8
50	refractory anemia	9.8

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

Symptoms & Phenotypes for Miller-Dieker Lissencephaly Syndrome

Sources:
⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS
See all MalaCards sources

Symptoms by clinical synopsis from OMIM:

247200

Clinical features from OMIM:

247200

Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:

⁶⁴ ⁵⁴ (show all 58)

id	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability⁶⁴	obligate (100%)		HP:0001249
2	motor delay⁶⁴	obligate (100%)		HP:0001270
3	epicanthus⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000286
4	high forehead⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000348
5	posteriorly rotated ears⁶⁴	hallmark (90%)		HP:0000358
6	anteverted nares⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000463
7	seizures⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0001250
8	frontal bossing⁶⁴	hallmark (90%)		HP:0002007
9	cerebral cortical atrophy⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0002120
10	eeg abnormality⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0002353
11	short nose⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0003196
12	polyhydramnios⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0001561
13	abnormality of the cardiovascular system⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0001626
14	lissencephaly⁶⁴ ⁵⁴	27%	Very frequent (99-80%)	HP:0001339
15	micrognathia⁶⁴	26%		HP:0000347
16	thick upper lip vermilion⁶⁴	25%		HP:0000215
17	wide nasal bridge⁶⁴	24%		HP:0000431
18	microcephaly⁶⁴	17%		HP:0000252
19	hypoplasia of the corpus callosum⁶⁴ ⁵⁴	17%	Occasional (29-5%)	HP:0002079
20	cavum septum pellucidum⁶⁴	17%		HP:0002389
21	low-set ears⁶⁴	14%		HP:0000369
22	sacral dimple⁶⁴ ⁵⁴	14%	Occasional (29-5%)	HP:0000960
23	deep palmar crease⁶⁴	14%		HP:0006191
24	midline brain calcifications⁶⁴	13%		HP:0007045
25	clinodactyly of the 5th finger⁶⁴ ⁵⁴	10%	Occasional (29-5%)	HP:0004209
26	intrauterine growth retardation⁶⁴	8%		HP:0001511
27	nephropathy⁶⁴ ⁵⁴	occasional (7.5%)	Occasional (29-5%)	HP:0000112
28	omphalocele⁶⁴ ⁵⁴	occasional (7.5%)	Occasional (29-5%)	HP:0001539
29	incoordination⁶⁴	occasional (7.5%)		HP:0002311
30	aplasia/hypoplasia of the corpus callosum⁶⁴	occasional (7.5%)		HP:0007370
31	joint contracture of the hand⁶⁴	6%		HP:0009473
32	abnormality of cardiovascular system morphology⁶⁴	6%		HP:0030680
33	single transverse palmar crease⁶⁴	rare (5%)		HP:0000954
34	abnormal heart morphology⁶⁴			HP:0001627
35	midface retrusion⁶⁴			HP:0011800
36	inguinal hernia⁶⁴			HP:0000023
37	cryptorchidism⁶⁴			HP:0000028
38	pelvic kidney⁶⁴			HP:0000125
39	cleft palate⁶⁴			HP:0000175
40	thin upper lip vermilion⁶⁴			HP:0000219
41	cataract⁶⁴			HP:0000518
42	upslanted palpebral fissure⁶⁴			HP:0000582
43	delayed eruption of teeth⁶⁴			HP:0000684
44	pachygyria⁶⁴			HP:0001302
45	failure to thrive⁶⁴			HP:0001508
46	decreased fetal movement⁶⁴			HP:0001558
47	abnormality of metabolism/homeostasis⁶⁴			HP:0001939
48	recurrent aspiration pneumonia⁶⁴			HP:0002100
49	duodenal atresia⁶⁴			HP:0002247
50	heterotopia⁶⁴			HP:0002282
51	progressive spastic paraplegia⁶⁴			HP:0007020
52	infantile muscular hypotonia⁶⁴			HP:0008947
53	polydactyly⁶⁴			HP:0010442
54	camptodactyly⁶⁴			HP:0012385
55	infantile spasms⁶⁴			HP:0012469
56	abnormality of upper lip⁵⁴		Very frequent (99-80%)
57	ataxia⁵⁴		Occasional (29-5%)
58	growth delay⁵⁴		Very frequent (99-80%)

UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:

seizures

Drugs & Therapeutics for Miller-Dieker Lissencephaly Syndrome

Sources:
⁴ClinicalTrials, ⁴⁶NDF-RT, ⁶⁸UMLS
See all MalaCards sources

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Miller-Dieker Lissencephaly Syndrome

Genetic Tests for Miller-Dieker Lissencephaly Syndrome

Sources:
²⁴GeneTests, ²⁷GTR
See all MalaCards sources

Genetic tests related to Miller-Dieker Lissencephaly Syndrome:

id	Genetic test	Affiliating Genes
1	Miller Dieker Syndrome²⁷
2	Miller-Dieker Syndrome²⁴	PAFAH1B1, YWHAE

Anatomical Context for Miller-Dieker Lissencephaly Syndrome

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Miller-Dieker Lissencephaly Syndrome:

³⁶

Brain, Cortex, Skin, Heart, Kidney

Publications for Miller-Dieker Lissencephaly Syndrome

Sources:
⁵⁷PubMed
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Articles related to Miller-Dieker Lissencephaly Syndrome:

id	Title	Authors	Year
1	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)	Chen C.P.... Wang W.	2010
2	Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. (20045764)	Lin C.Y.... Wang W.	2009
3	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)	McHale J.C.... Inglehearn C.F.	2000
4	A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. (6834190)	Van Allen M.... Clarren S.K.	1983

Genes related to Miller-Dieker Lissencephaly Syndrome

Sources:
¹³DISEASES, ²¹GeneCards, ²⁴GeneTests, ⁵⁰Novoseek, ⁵²OMIM, ⁵⁴Orphanet
See all MalaCards sources

Genes related to Miller-Dieker Lissencephaly Syndrome (3 elite genes):

(show all 25)

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	674.81	Structural variation ⁵² Genetic Tests ²⁴ Role in the phenotype ⁵⁴ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Summaries (show sections)	17850624
2	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	142.66	Genetic Tests ²⁴ Role in the phenotype ⁵⁴ DISEASES inferred ¹³
3	HIC1	HIC ZBTB Transcriptional Repressor 1	31.46	Role in the phenotype ⁵⁴ DISEASES inferred ¹³
4	PRPF8	Pre-MRNA Processing Factor 8	22.45	DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
5	GPX4	Glutathione Peroxidase 4	17.69	DISEASES inferred ¹³
6	LY96	Lymphocyte Antigen 96	16.52	DISEASES inferred ¹³
7	CRK	CRK Proto-Oncogene, Adaptor Protein	16.28	DISEASES inferred ¹³
8	BHLHA9	Basic Helix-Loop-Helix Family Member A9	16.09	DISEASES inferred ¹³
9	PNP	Purine Nucleoside Phosphorylase	15.74	DISEASES inferred ¹³
10	CAMTA2	Calmodulin Binding Transcription Activator 2	15.66	DISEASES inferred ¹³
11	DPH1	Diphthamide Biosynthesis 1	15.53	DISEASES inferred ¹³
12	TUBA1A	Tubulin Alpha 1a	15.51	DISEASES inferred ¹³
13	CBARP	CACN Beta Subunit Associated Regulatory Protein	9.26	DISEASES inferred ¹³
14	LY86	Lymphocyte Antigen 86	7.70	DISEASES inferred ¹³
15	FBXW2	F-Box And WD Repeat Domain Containing 2	6.50	DISEASES inferred ¹³
16	COL24A1	Collagen Type XXIV Alpha 1 Chain	5.74	DISEASES inferred ¹³
17	MFAP4	Microfibrillar Associated Protein 4	5.72	DISEASES inferred ¹³
18	KIF1BP	KIF1 Binding Protein	5.42	DISEASES inferred ¹³
19	NDEL1	NudE Neurodevelopment Protein 1 Like 1	5.36	DISEASES inferred ¹³
20	HAUS1	HAUS Augmin Like Complex Subunit 1	5.23	DISEASES inferred ¹³
21	DYSF	Dysferlin	5.14	DISEASES inferred ¹³
22	PAFAH1B3	Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 3	5.03	DISEASES inferred ¹³
23	NDE1	NudE Neurodevelopment Protein 1	4.98	DISEASES inferred ¹³
24	CSRP2	Cysteine And Glycine Rich Protein 2	4.96	DISEASES inferred ¹³
25	FKTN	Fukutin	4.96	DISEASES inferred ¹³

Variations for Miller-Dieker Lissencephaly Syndrome

Sources:
⁶CNVD
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Copy number variations for Miller-Dieker Lissencephaly Syndrome from CNVD:

⁶

id	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	13774	1	1	3600000	Copy number		Miller-Dieker syndrome
2	106777	17	1	22200000	Copy number	PAFAH1B1	Miller-Dieker syndrome
3	106851	17	1	3600000	Deletion	LIS1	Miller-Dieker syndrome
4	106866	17	1	3600000	Microdeletion		Miller-Dieker lissencephaly syndrome

Expression for genes affiliated with Miller-Dieker Lissencephaly Syndrome

Sources:
¹⁸Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with Miller-Dieker Lissencephaly Syndrome

Sources:
⁴²NCBI BioSystems Database, ⁵⁵PathCards
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	IGF1 pathway⁴²	10.1	CRK, YWHAE
2	Lissencephaly gene (LIS1) in neuronal migration and development⁴²	9.8	NDEL1, PAFAH1B1, YWHAE

GO Terms for genes affiliated with Miller-Dieker Lissencephaly Syndrome

Sources:
¹⁹Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	kinesin complex	GO:0005871	9.8	NDEL1, PAFAH1B1, YWHAE

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

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	establishment of mitotic spindle orientation	GO:0000132	10.6	NDEL1, PAFAH1B1
2	positive regulation of lipopolysaccharide-mediated signaling pathway	GO:0031666	10.4	LY86, LY96
3	nuclear envelope disassembly	GO:0051081	10.4	NDEL1, PAFAH1B1
4	regulation of microtubule motor activity	GO:2000574	10.3	NDEL1, PAFAH1B1
5	retrograde axonal transport	GO:0008090	10.2	NDEL1, PAFAH1B1
6	neuron migration	GO:0001764	10.2	NDEL1, PAFAH1B1, YWHAE
7	G2/M transition of mitotic cell cycle	GO:0000086	10.1	HAUS1, PAFAH1B1, TUBA1A, YWHAE
8	vesicle transport along microtubule	GO:0047496	9.9	NDEL1, PAFAH1B1