Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

MalaCards integrated aliases for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

Name: Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures ⁵⁶ ⁷³ ²⁹ ⁶

Nedcas ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy

HPO:

³¹

neurodevelopmental disorder with cerebellar atrophy and with or without seizures:
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 618056

MeSH ⁴³ D065886

MedGen ⁴¹ C4748032 CN252657

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Summaries for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder with cerebellar atrophy and with or without seizures: An autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients.

MalaCards based summary : Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures, is also known as nedcas. An important gene associated with Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures is BRAT1 (BRCA1 Associated ATM Activator 1). Affiliated tissues include eye, and related phenotypes are visual impairment and high palate

More information from OMIM: 618056

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Related Diseases for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

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Symptoms & Phenotypes for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Human phenotypes related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

³¹ (show all 26)

#	Description	HPO Frequency	HPO Source Accession
1	visual impairment ³¹	very rare (1%)	HP:0000505
2	high palate ³¹		HP:0000218
3	nystagmus ³¹		HP:0000639
4	intellectual disability ³¹		HP:0001249
5	seizures ³¹		HP:0001250
6	hyperreflexia ³¹		HP:0001347
7	global developmental delay ³¹		HP:0001263
8	feeding difficulties ³¹		HP:0011968
9	microcephaly ³¹		HP:0000252
10	hypertonia ³¹		HP:0001276
11	long philtrum ³¹		HP:0000343
12	tented upper lip vermilion ³¹		HP:0010804
13	epicanthus ³¹		HP:0000286
14	absent speech ³¹		HP:0001344
15	gait ataxia ³¹		HP:0002066
16	dysmetria ³¹		HP:0001310
17	apnea ³¹		HP:0002104
18	clinodactyly of the 5th finger ³¹		HP:0004209
19	thin vermilion border ³¹		HP:0000233
20	agitation ³¹		HP:0000713
21	hypoplasia of the corpus callosum ³¹		HP:0002079
22	cerebellar atrophy ³¹		HP:0001272
23	muscular hypotonia of the trunk ³¹		HP:0008936
24	broad face ³¹		HP:0000283
25	delayed ability to walk ³¹		HP:0031936
26	truncal titubation ³¹		HP:0030147

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
nystagmus
epicanthal folds
impaired vision (in some patients)
poor eye fixation

Abdomen Gastrointestinal:
feeding difficulties
swallowing problems

Head And Neck Face:
long philtrum
wide face

Skeletal Hands:
fifth finger clinodactyly
hand fisting

Muscle Soft Tissue:
axial hypotonia

Neurologic Central Nervous System:
intellectual disability
tremor
hyperreflexia
hypertonia
gait ataxia
more

Head And Neck Head:
microcephaly
small head circumference

Neurologic Behavioral Psychiatric Manifestations:
agitation
disruptive behavior

Head And Neck Mouth:
high-arched palate
thin lips
tented upper lip

Respiratory:
apneic episodes

Clinical features from OMIM:

618056

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Drugs & Therapeutics for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures

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Genetic Tests for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Genetic tests related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

#	Genetic test	Affiliating Genes
1	Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures ²⁹	BRAT1

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Anatomical Context for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

⁴⁰

Eye

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Publications for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Articles related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

#	Title	Authors	PMID	Year
1	BRAT1 mutations present with a spectrum of clinical severity. ⁶ ⁵⁶	Srivastava S...Naidu S	27282546	2016
2	BRAT1-related disease--identification of a patient without early lethality. ⁵⁶ ⁶	Mundy SA...Shen JJ	26494257	2016
3	Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder? ⁶ ⁵⁶	Hanes I...Callen DJ	26483087	2015
4	Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. ⁶	van de Pol LA...van der Knaap MS	26535877	2015
5	Genetic mapping and exome sequencing identify variants associated with five novel diseases. ⁶	Puffenberger EG...Strauss KA	22279524	2012

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Genes for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Genes related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BRAT1	BRCA1 Associated ATM Activator 1	Protein Coding	1019	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26483087 26535877 27282546 (more) 22279524 26494257

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Variations for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BRAT1	NM_152743.4(BRAT1):c.638dup (p.Val214fs)	duplication	Pathogenic	31199	rs730880324	7:2583389-2583389	7:2543755-2543755
2	BRAT1	NM_152743.4(BRAT1):c.803+1G>C	SNV	Pathogenic	225028	rs869312931	7:2583223-2583223	7:2543589-2543589
3	BRAT1	NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	duplication	Pathogenic	279703	rs776913277	7:2584679-2584679	7:2545045-2545045
4	BRAT1	NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)	SNV	Likely pathogenic	427101	rs1085307958	7:2584554-2584554	7:2544920-2544920
5	BRAT1	NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)	SNV	Conflicting interpretations of pathogenicity	265048	rs886039312	7:2578344-2578344	7:2538710-2538710
6	BRAT1	NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)	SNV	Conflicting interpretations of pathogenicity	449963	rs200502048	7:2578244-2578244	7:2538610-2538610
7	BRAT1	NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)	SNV	Uncertain significance	472947	rs142129866	7:2579181-2579181	7:2539547-2539547
8	BRAT1	NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val)	SNV	Uncertain significance	472932	rs778690788	7:2581055-2581055	7:2541421-2541421
9	BRAT1	NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)	SNV	Uncertain significance	540171	rs773571503	7:2577840-2577840	7:2538206-2538206
10	BRAT1	NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)	SNV	Uncertain significance	446895	rs61753094	7:2578341-2578341	7:2538707-2538707

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Expression for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures.

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Pathways for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

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GO Terms for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

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Sources for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

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¹⁰ dbSNP

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¹⁵ DISEASES

¹⁶ DrugBank

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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

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⁴⁹ NCIt

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⁵¹ NIH Clinical Center

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⁵⁶ OMIM

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⁶¹ PubMed

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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 Cerebellar Atrophy and with or Without Seizures (NEDCAS)

Aliases & Classifications for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

MalaCards integrated aliases for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Related Diseases for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Human phenotypes related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Genetic Tests for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Genetic tests related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

Anatomical Context for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

Publications for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Articles related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

Genes for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Genes related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures (1 elite genes):

Variations for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:

Expression for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Pathways for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

GO Terms for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...

Sources for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...