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 ⁵⁷ ⁷³ ²⁹ ⁶

Nedcas ⁵⁷ ⁷³

Neurodevelopmental Disorder with Cerebellar Atrophy, with/without Seizures ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 618056

MeSH ⁴⁴ 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 intellectual disability

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
intellectual disability
hyperreflexia
tremor
hypertonia
dysmetria
more

Head And Neck Head:
microcephaly
small head circumference

Abdomen Gastrointestinal:
feeding difficulties
swallowing problems

Skeletal Hands:
fifth finger clinodactyly
hand fisting

Respiratory:
apneic episodes

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

Head And Neck Face:
long philtrum
wide face

Neurologic Behavioral Psychiatric Manifestations:
agitation
disruptive behavior

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

Muscle Soft Tissue:
axial hypotonia

Clinical features from OMIM®:

618056 (Updated 05-Mar-2021)

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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 ⁵⁷	Srivastava S...Naidu S	27282546	2016
2	BRAT1-related disease--identification of a patient without early lethality. ⁵⁷ ⁶	Mundy SA...Shen JJ	26494257	2016
3	Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder? ⁵⁷ ⁶	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
6	An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity. ⁶¹	Colak FK...Ceylan N	33040300	2020

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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	PubMed IDs
1	BRAT1	BRCA1 Associated ATM Activator 1	Protein Coding	1019.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22279524 26535877 27282546
2	AGTPBP1	ATP/GTP Binding Carboxypeptidase 1	Protein Coding	33.41	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)

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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 (show all 12)

#	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	7:2583388-2583389	7:2543754-2543755
2	BRAT1	NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)	SNV	Pathogenic	265048	rs886039312	7:2578344-2578344	7:2538710-2538710
3	BRAT1	NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	Duplication	Pathogenic	279703	rs776913277	7:2584678-2584679	7:2545044-2545045
4	BRAT1	NM_152743.4(BRAT1):c.803+1G>C	SNV	Pathogenic	225028	rs869312931	7:2583223-2583223	7:2543589-2543589
5	BRAT1	NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)	SNV	Pathogenic	427101	rs1085307958	7:2584554-2584554	7:2544920-2544920
6	BRAT1	NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)	SNV	Pathogenic	449963	rs200502048	7:2578244-2578244	7:2538610-2538610
7	AGTPBP1	NM_015239.2(AGTPBP1):c.2242C>T (p.Gln748Ter)	SNV	Likely pathogenic	599368	rs1564046794	9:88211338-88211338	9:85596423-85596423
8	AGTPBP1	NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys)	SNV	Uncertain significance	977153		9:88211305-88211305	9:85596390-85596390
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
11	BRAT1	NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)	SNV	Uncertain significance	472947	rs142129866	7:2579181-2579181	7:2539547-2539547
12	BRAT1	NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val)	SNV	Uncertain significance	472932	rs778690788	7:2581055-2581055	7:2541421-2541421

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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

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⁸ Cochrane Library

⁹ Cosmic

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²⁰ GARD

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

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⁶⁷ SNOMED-CT

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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...