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

MDLS MCID: MLL018 MIFTS: 45	Miller-Dieker Lissencephaly Syndrome (MDLS) 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 seizures, seizures and Array. An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, cortex and skin.

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

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.

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.

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 157)

id	Related Disease	Score	Top Affiliating Genes
1	myelodysplastic syndrome	11.9
2	muscular dystrophy	11.6
3	walker-warburg syndrome	11.4
4	lissencephaly 1	11.3
5	epidermolysis bullosa simplex with muscular dystrophy	11.0
6	distal 17p13.3 microdeletion syndrome	10.9
7	menkes disease	10.8
8	epidermolysa bullosa simplex with muscular dystrophy	10.8
9	macrocytic anemia, refractory, due to 5q deletion, somatic	10.8
10	muscular dystrophy, congenital	10.7
11	muscular dystrophy-dystroglycanopathy , type a, 1	10.7
12	spondyloepimetaphyseal dysplasia with joint laxity, type 2	10.7
13	lama2-related muscular dystrophy	10.7
14	mpv17-related hepatocerebral mitochondrial dna depletion syndrome	10.7
15	ocular muscular dystrophy	10.7
16	ophthalmoplegic muscular dystrophy	10.7
17	emd-related emery-dreifuss muscular dystrophy, x-linked	10.7
18	leukemia, acute myelomonocytic, somatic, somatic	10.7
19	facioscapulohumeral muscular dystrophy 1	10.7
20	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	10.7
21	epidermolysis bullosa simplex with pyloric atresia	10.7
22	metatropic dysplasia	10.7
23	myelodysplasia and leukemia syndrome with monosomy 7	10.7
24	adrenomyodystrophy	10.7
25	myelodysplastic myeloproliferative cancer	10.7
26	hereditary lymphedema	10.7
27	atypical chronic myeloid leukemia	10.7
28	meniere's disease	10.7
29	lissencephaly	10.4
30	leukemia	10.3
31	right ventricular hypoplasia, isolated	10.2	CRK, PAFAH1B1, YWHAE
32	otomycosis	10.2	FBXW2, LY96
33	persistent vegetative state	10.2	PAFAH1B1, TUBA1A, YWHAE
34	typhoidal tularemia	10.2	FBXW2, LY96
35	waterhouse-friderichsen syndrome	10.2	CBARP, PNP
36	pyloric stenosis	10.1	LY86, LY96
37	retinitis pigmentosa	10.1
38	retinitis	10.1
39	polyhydramnios	10.1
40	loeys-dietz syndrome	10.1	PAFAH1B1, PAFAH1B3, TUBA1A, YWHAE
41	epithelial and subepithelial dystrophy	10.1	PAFAH1B1, YWHAE
42	angiodysplasia	10.1	NDEL1, PAFAH1B1, TUBA1A
43	fibrous dysplasia	10.1	NDEL1, PAFAH1B1, TUBA1A
44	myeloid leukemia	10.1
45	aplastic anemia	9.8
46	acute leukemia	9.8
47	myeloproliferative neoplasm	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:

⁵⁴ ⁶⁴ (show all 56)

id	Description	Orphanet Frequency	HPO Source Accession
1	nephropathy⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000112
2	abnormality of upper lip⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000177
3	epicanthus⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000286
4	high forehead⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000348
5	anteverted nares⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000463
6	sacral dimple⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000960
7	seizures⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0001250
8	ataxia⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0001251
9	lissencephaly⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0001339
10	growth delay⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0001510
11	omphalocele⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0001539
12	polyhydramnios⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0001561
13	abnormality of the cardiovascular system⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0001626
14	hypoplasia of the corpus callosum⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0002079
15	cerebral cortical atrophy⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0002120
16	eeg abnormality⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0002353
17	short nose⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0003196
18	clinodactyly of the 5th finger⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0004209
19	microcephaly⁶⁴		HP:0000252
20	abnormal heart morphology⁶⁴		HP:0001627
21	frontal bossing⁶⁴		HP:0002007
22	midface retrusion⁶⁴		HP:0011800
23	inguinal hernia⁶⁴		HP:0000023
24	cryptorchidism⁶⁴		HP:0000028
25	pelvic kidney⁶⁴		HP:0000125
26	cleft palate⁶⁴		HP:0000175
27	thick upper lip vermilion⁶⁴		HP:0000215
28	thin upper lip vermilion⁶⁴		HP:0000219
29	micrognathia⁶⁴		HP:0000347
30	posteriorly rotated ears⁶⁴		HP:0000358
31	low-set ears⁶⁴		HP:0000369
32	wide nasal bridge⁶⁴		HP:0000431
33	cataract⁶⁴		HP:0000518
34	upslanted palpebral fissure⁶⁴		HP:0000582
35	delayed eruption of teeth⁶⁴		HP:0000684
36	single transverse palmar crease⁶⁴		HP:0000954
37	intellectual disability⁶⁴		HP:0001249
38	motor delay⁶⁴		HP:0001270
39	pachygyria⁶⁴		HP:0001302
40	failure to thrive⁶⁴		HP:0001508
41	intrauterine growth retardation⁶⁴		HP:0001511
42	decreased fetal movement⁶⁴		HP:0001558
43	abnormality of metabolism/homeostasis⁶⁴		HP:0001939
44	recurrent aspiration pneumonia⁶⁴		HP:0002100
45	duodenal atresia⁶⁴		HP:0002247
46	heterotopia⁶⁴		HP:0002282
47	cavum septum pellucidum⁶⁴		HP:0002389
48	deep palmar crease⁶⁴		HP:0006191
49	progressive spastic paraplegia⁶⁴		HP:0007020
50	midline brain calcifications⁶⁴		HP:0007045
51	infantile muscular hypotonia⁶⁴		HP:0008947
52	joint contracture of the hand⁶⁴		HP:0009473
53	polydactyly⁶⁴		HP:0010442
54	camptodactyly⁶⁴		HP:0012385
55	infantile spasms⁶⁴		HP:0012469
56	abnormality of cardiovascular system morphology⁶⁴		HP:0030680

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
See all MalaCards sources

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	674.88	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	151.69	Genetic Tests ²⁴ Role in the phenotype ⁵⁴ DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
3	HIC1	HIC ZBTB Transcriptional Repressor 1	40.42	Candidate gene tested ⁵⁴ DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
4	PRPF8	Pre-MRNA Processing Factor 8	28.88	GeneCards inferred via : Disorders, Publications (show sections)
5	GPX4	Glutathione Peroxidase 4	26.91	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
6	LY96	Lymphocyte Antigen 96	25.53	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
7	CRK	CRK Proto-Oncogene, Adaptor Protein	25.38	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
8	BHLHA9	Basic Helix-Loop-Helix Family Member A9	24.94	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
9	PNP	Purine Nucleoside Phosphorylase	24.84	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
10	CAMTA2	Calmodulin Binding Transcription Activator 2	24.61	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
11	TUBA1A	Tubulin Alpha 1a	24.45	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
12	DPH1	Diphthamide Biosynthesis 1	24.35	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
13	PAFAH1B3	Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 3	23.98	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
14	CBARP	CACN Beta Subunit Associated Regulatory Protein	18.20	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
15	LY86	Lymphocyte Antigen 86	16.73	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
16	FBXW2	F-Box And WD Repeat Domain Containing 2	15.72	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
17	COL24A1	Collagen Type XXIV Alpha 1 Chain	14.42	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
18	KIF1BP	KIF1 Binding Protein	14.32	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
19	NDEL1	NudE Neurodevelopment Protein 1 Like 1	14.32	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
20	HAUS1	HAUS Augmin Like Complex Subunit 1	14.18	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
21	NDE1	NudE Neurodevelopment Protein 1	13.92	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
22	FKTN	Fukutin	13.90	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
23	CSRP2	Cysteine And Glycine Rich Protein 2	13.90	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
24	DYSF	Dysferlin	13.76	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
25	MFAP4	Microfibril Associated Protein 4	8.98	GeneCards inferred via : Disorders (show sections)

Variations for Miller-Dieker Lissencephaly Syndrome

Sources:
⁶CNVD
See all MalaCards sources

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	Lissencephaly gene (LIS1) in neuronal migration and development⁴²	9.5	NDEL1, PAFAH1B1, PAFAH1B3, 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	central region of growth cone	GO:0090724	10.6	NDEL1, PAFAH1B1, YWHAE
2	kinesin complex	GO:0005871	10.4	NDEL1, PAFAH1B1, YWHAE
3	microtubule	GO:0005874	9.3	HAUS1, NDEL1, PAFAH1B1, TUBA1A
4	cytosol	GO:0005829	8.2	CRK, DPH1, FBXW2, GPX4, HAUS1, HIC1

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	positive regulation of lipopolysaccharide-mediated signaling pathway	GO:0031666	10.4	LY86, LY96
2	nuclear envelope disassembly	GO:0051081	10.4	NDEL1, PAFAH1B1
3	regulation of microtubule motor activity	GO:2000574	10.3	NDEL1, PAFAH1B1
4	retrograde axonal transport	GO:0008090	10.2	NDEL1, PAFAH1B1
5	neuron migration	GO:0001764	10.2	NDEL1, PAFAH1B1, YWHAE
6	ciliary basal body docking	GO:0097711	10.1	HAUS1, PAFAH1B1, TUBA1A, 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