MCID: NRD052
MIFTS: 16

Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures

Categories: Genetic diseases, Neuronal diseases

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:



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

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

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

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

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

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

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

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

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.

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...

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10 dbSNP
11 DGIdb
17 ExPASy
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31 HMDB
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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