Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly and Structural...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

Name: Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies ⁵⁶ ⁷³ ⁶

Nedmiba ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated families have been reported (last curated july 2019)

HPO:

³¹

neurodevelopmental disorder with microcephaly and structural brain anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618492

MeSH ⁴³ D065886

MedGen ⁴¹ C5193123 CN260577

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Summaries for Neurodevelopmental Disorder with Microcephaly and Structural...

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder with microcephaly and structural brain anomalies: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies, is also known as nedmiba. An important gene associated with Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies is DYNC1I2 (Dynein Cytoplasmic 1 Intermediate Chain 2). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and delayed speech and language development

More information from OMIM: 618492

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Related Diseases for Neurodevelopmental Disorder with Microcephaly and Structural...

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Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly and Structural...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

³¹ (show all 29)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³¹	very rare (1%)	HP:0001263
2	delayed speech and language development ³¹	very rare (1%)	HP:0000750
3	microcephaly ³¹	very rare (1%)	HP:0000252
4	anteverted nares ³¹	very rare (1%)	HP:0000463
5	intellectual disability, severe ³¹	very rare (1%)	HP:0010864
6	attention deficit hyperactivity disorder ³¹	very rare (1%)	HP:0007018
7	motor delay ³¹	very rare (1%)	HP:0001270
8	dysarthria ³¹	very rare (1%)	HP:0001260
9	upslanted palpebral fissure ³¹	very rare (1%)	HP:0000582
10	bulbous nose ³¹	very rare (1%)	HP:0000414
11	agenesis of corpus callosum ³¹	very rare (1%)	HP:0001274
12	absent septum pellucidum ³¹	very rare (1%)	HP:0001331
13	hypoplasia of the corpus callosum ³¹	very rare (1%)	HP:0002079
14	aggressive behavior ³¹	very rare (1%)	HP:0000718
15	seizure ³¹	very rare (1%)	HP:0001250
16	simplified gyral pattern ³¹	very rare (1%)	HP:0009879
17	short stature ³¹		HP:0004322
18	spasticity ³¹		HP:0001257
19	hyperreflexia ³¹		HP:0001347
20	proptosis ³¹		HP:0000520
21	nasal speech ³¹		HP:0001611
22	severe global developmental delay ³¹		HP:0011344
23	sloping forehead ³¹		HP:0000340
24	prominent nose ³¹		HP:0000448
25	cerebral atrophy ³¹		HP:0002059
26	generalized hypotonia ³¹		HP:0001290
27	inability to walk ³¹		HP:0002540
28	hypoplasia of the brainstem ³¹		HP:0002365
29	delayed ability to walk ³¹		HP:0031936

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Nose:
anteverted nares
bulbous nose
prominent nose

Neurologic Central Nervous System:
spasticity
hyperreflexia
cerebral atrophy
inability to walk
simplified gyral pattern
more

Muscle Soft Tissue:
hypotonia

Voice:
nasal voice

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)

Skeletal:
distal joint hyperextensibility

Growth Height:
short stature

Head And Neck Face:
sloping forehead

Head And Neck Eyes:
upslanting palpebral fissures
prominent eyes

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (down to -6.7 sd)

Clinical features from OMIM:

618492

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Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly and Structural...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies

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Genetic Tests for Neurodevelopmental Disorder with Microcephaly and Structural...

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Anatomical Context for Neurodevelopmental Disorder with Microcephaly and Structural...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

⁴⁰

Brain, Eye

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Publications for Neurodevelopmental Disorder with Microcephaly and Structural...

Articles related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

#	Title	Authors	PMID	Year
1	Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. ⁶ ⁵⁶	Ansar M...Antonarakis SE	31079899	2019

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Genes for Neurodevelopmental Disorder with Microcephaly and Structural...

Genes related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	1218.23	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	31079899

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Variations for Neurodevelopmental Disorder with Microcephaly and Structural...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	GRCh37 Pos	GRCh38 Pos
1	DYNC1I2	NM_001378.3(DYNC1I2):c.607+1G>A	SNV	Pathogenic	635399	2:172582224-172582224	2:171725714-171725714
2	DYNC1I2	NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys)	SNV	Pathogenic	635400	2:172582561-172582561	2:171726051-171726051
3	DYNC1I2	NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter)	SNV	Pathogenic	635401	2:172582801-172582801	2:171726291-171726291

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	DYNC1I2	p.Tyr247Cys	VAR_082947

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Expression for Neurodevelopmental Disorder with Microcephaly and Structural...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies.

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Pathways for Neurodevelopmental Disorder with Microcephaly and Structural...

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GO Terms for Neurodevelopmental Disorder with Microcephaly and Structural...

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Sources for Neurodevelopmental Disorder with Microcephaly and Structural...

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies (NEDMIBA)

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly and Structural...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neurodevelopmental Disorder with Microcephaly and Structural...

Related Diseases for Neurodevelopmental Disorder with Microcephaly and Structural...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly and Structural...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly and Structural...

Genetic Tests for Neurodevelopmental Disorder with Microcephaly and Structural...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly and Structural...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

Publications for Neurodevelopmental Disorder with Microcephaly and Structural...

Articles related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

Genes for Neurodevelopmental Disorder with Microcephaly and Structural...

Genes related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies (1 elite genes):

Variations for Neurodevelopmental Disorder with Microcephaly and Structural...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

Expression for Neurodevelopmental Disorder with Microcephaly and Structural...

Pathways for Neurodevelopmental Disorder with Microcephaly and Structural...

GO Terms for Neurodevelopmental Disorder with Microcephaly and Structural...

Sources for Neurodevelopmental Disorder with Microcephaly and Structural...