NEDCAS
MCID: NRD052
MIFTS: 22

Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures (NEDCAS)

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 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:



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

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:

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 seizures 31 HP:0001250
4 hyperreflexia 31 HP:0001347
5 nystagmus 31 HP:0000639
6 high palate 31 HP:0000218
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
Neurologic Central Nervous System:
intellectual disability
hyperreflexia
tremor
hypertonia
gait ataxia
more
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

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

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

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...

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

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

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. 56 6
27282546 2016
2
BRAT1-related disease--identification of a patient without early lethality. 56 6
26494257 2016
3
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder? 56 6
26483087 2015
4
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 6
26535877 2015
5
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 6
22279524 2012

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.294dup (p.Leu99fs)duplication Pathogenic 279703 rs776913277 7:2584678-2584679 7:2545044-2545045
2 BRAT1 NM_152743.4(BRAT1):c.803+1G>CSNV Pathogenic 225028 rs869312931 7:2583223-2583223 7:2543589-2543589
3 BRAT1 NM_152743.4(BRAT1):c.638dup (p.Val214fs)duplication Pathogenic 31199 rs730880324 7:2583388-2583389 7:2543754-2543755
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.1828C>T (p.Arg610Trp)SNV Conflicting interpretations of pathogenicity 446895 rs61753094 7:2578341-2578341 7:2538707-2538707
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.1825C>T (p.Arg609Trp)SNV Conflicting interpretations of pathogenicity 265048 rs886039312 7:2578344-2578344 7:2538710-2538710
8 BRAT1 NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)SNV Uncertain significance 472947 rs142129866 7:2579181-2579181 7:2539547-2539547
9 BRAT1 NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val)SNV Uncertain significance 472932 rs778690788 7:2581055-2581055 7:2541421-2541421
10 BRAT1 NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)SNV Uncertain significance 540171 rs773571503 7:2577840-2577840 7:2538206-2538206

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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