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 ⁶

Nedcas ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618056

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

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 high palate and nystagmus

Description 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...

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Head And Neck Head:
microcephaly
small head circumference

Abdomen Gastrointestinal:
feeding difficulties
swallowing problems

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 Face:
long philtrum
wide face

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

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

³² (show all 24)

#	Description	HPO Frequency	HPO Source Accession
1	high palate ³²		HP:0000218
2	nystagmus ³²		HP:0000639
3	intellectual disability ³²		HP:0001249
4	seizures ³²		HP:0001250
5	hyperreflexia ³²		HP:0001347
6	global developmental delay ³²		HP:0001263
7	microcephaly ³²		HP:0000252
8	visual impairment ³²	very rare (1%)	HP:0000505
9	hypertonia ³²		HP:0001276
10	long philtrum ³²		HP:0000343
11	feeding difficulties ³²		HP:0011968
12	epicanthus ³²		HP:0000286
13	absent speech ³²		HP:0001344
14	gait ataxia ³²		HP:0002066
15	dysmetria ³²		HP:0001310
16	clinodactyly of the 5th finger ³²		HP:0004209
17	agitation ³²		HP:0000713
18	thin vermilion border ³²		HP:0000233
19	tented upper lip vermilion ³²		HP:0010804
20	cerebellar atrophy ³²		HP:0001272
21	hypoplasia of the corpus callosum ³²		HP:0002079
22	truncal titubation ³²		HP:0030147
23	broad face ³²		HP:0000283
24	delayed ability to walk ³²		HP:0031936

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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...

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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:

⁴¹

Eye

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

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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	900	Molecular basis known ⁵⁷ Pathogenic ⁶	26483087 27282546 26494257 (more) 22279524 26535877

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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	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRAT1	NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs)	duplication	Pathogenic	rs730880324	GRCh37	Chromosome 7, 2583389: 2583389
2	BRAT1	NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs)	duplication	Pathogenic	rs730880324	GRCh38	Chromosome 7, 2543755: 2543755
3	BRAT1	NM_152743.3(BRAT1): c.803+1G> C	single nucleotide variant	Pathogenic	rs869312931	GRCh37	Chromosome 7, 2583223: 2583223
4	BRAT1	NM_152743.3(BRAT1): c.803+1G> C	single nucleotide variant	Pathogenic	rs869312931	GRCh38	Chromosome 7, 2543589: 2543589
5	BRAT1	NM_152743.3(BRAT1): c.1825C> T (p.Arg609Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs886039312	GRCh37	Chromosome 7, 2578344: 2578344
6	BRAT1	NM_152743.3(BRAT1): c.1825C> T (p.Arg609Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs886039312	GRCh38	Chromosome 7, 2538710: 2538710
7	BRAT1	NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs)	duplication	Pathogenic	rs776913277	GRCh37	Chromosome 7, 2584679: 2584679
8	BRAT1	NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs)	duplication	Pathogenic	rs776913277	GRCh38	Chromosome 7, 2545045: 2545045
9	BRAT1	NM_152743.3(BRAT1): c.419T> C (p.Leu140Pro)	single nucleotide variant	Likely pathogenic	rs1085307958	GRCh37	Chromosome 7, 2584554: 2584554
10	BRAT1	NM_152743.3(BRAT1): c.419T> C (p.Leu140Pro)	single nucleotide variant	Likely pathogenic	rs1085307958	GRCh38	Chromosome 7, 2544920: 2544920
11	BRAT1	NM_152743.3(BRAT1): c.1925C> A (p.Ala642Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200502048	GRCh37	Chromosome 7, 2578244: 2578244
12	BRAT1	NM_152743.3(BRAT1): c.1925C> A (p.Ala642Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200502048	GRCh38	Chromosome 7, 2538610: 2538610

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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...

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