NEDBEH
MCID: NRD024
MIFTS: 24

Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart (NEDBEH)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Anomalies of the...

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart:

Name: Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 58 26 76 6 17
Rere-Related Neurodevelopmental Syndrome 26 60 38
Nedbeh 58 26 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
highly variable extraneurologic manifestations that occur in less than 50% of patients


HPO:

33
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with or Without Anomalies of the...

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart: An autosomal dominant syndrome characterized by developmental delay, intellectual disability, brain anomalies, and neurological abnormalities including seizures, hypotonia, and behavioral problems such as autism spectrum disorders. Brain anomalies include abnormalities and/or thinning of the corpus callosum, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly. Congenital defects of the eye, heart and genitourinary system are present in half of the patients.

MalaCards based summary : Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart, also known as rere-related neurodevelopmental syndrome, is related to rere-related disorders and chromosome 1p36 deletion syndrome. An important gene associated with Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart is RERE (Arginine-Glutamic Acid Dipeptide Repeats). Affiliated tissues include brain, eye and heart, and related phenotypes are low-set ears and frontal bossing

Genetics Home Reference : 26 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. This condition primarily affects neurological development, causing intellectual disability, delayed development of speech and motor skills (such as sitting and walking), or autism spectrum disorder, which is a condition that affects communication and social interaction. Some affected individuals have additional neurological features, such as weak muscle tone (hypotonia), behavioral problems, and seizures.

OMIM : 58 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (607872); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016). (616975)

Related Diseases for Neurodevelopmental Disorder with or Without Anomalies of the...

Diseases related to Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rere-related disorders 11.7
2 chromosome 1p36 deletion syndrome 11.3

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Anomalies of the...

Human phenotypes related to Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 frontal bossing 33 HP:0002007
3 dysarthria 33 HP:0001260
4 global developmental delay 33 HP:0001263
5 anteverted nares 33 HP:0000463
6 optic atrophy 33 HP:0000648
7 short stature 33 HP:0004322
8 gastroesophageal reflux 33 HP:0002020
9 micrognathia 33 HP:0000347
10 feeding difficulties 33 HP:0011968
11 strabismus 33 HP:0000486
12 epicanthus 33 HP:0000286
13 cryptorchidism 33 HP:0000028
14 intrauterine growth retardation 33 HP:0001511
15 ventriculomegaly 33 HP:0002119
16 microphthalmia 33 HP:0000568
17 hypospadias 33 HP:0000047
18 downslanted palpebral fissures 33 HP:0000494
19 vesicoureteral reflux 33 HP:0000076
20 ventricular septal defect 33 HP:0001629
21 blepharophimosis 33 HP:0000581
22 generalized hypotonia 33 HP:0001290
23 hypoplasia of the corpus callosum 33 HP:0002079
24 autistic behavior 33 HP:0000729
25 cerebellar vermis hypoplasia 33 HP:0001320
26 posteriorly rotated ears 33 HP:0000358
27 coloboma 33 HP:0000589
28 broad eyebrow 33 HP:0011229

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
dysarthria
global developmental delay
ventriculomegaly
cerebellar vermis hypoplasia
thin corpus callosum
more
Head And Neck Eyes:
optic atrophy
strabismus
microphthalmia
blepharophimosis
coloboma
more
Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Growth Other:
intrauterine growth retardation
poor postnatal growth

Genitourinary Bladder:
vesicoureteral reflux

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autism spectrum disorder

Head And Neck Face:
frontal bossing
micrognathia

Head And Neck Nose:
anteverted nares

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias

Cardiovascular Heart:
ventricular septal defect
congenital heart defects (40% of patients)

Genitourinary Kidneys:
cystic kidney

Clinical features from OMIM:

616975

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Anomalies of the...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart

Genetic Tests for Neurodevelopmental Disorder with or Without Anomalies of the...

Anatomical Context for Neurodevelopmental Disorder with or Without Anomalies of the...

MalaCards organs/tissues related to Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart:

42
Brain, Eye, Heart, Kidney

Publications for Neurodevelopmental Disorder with or Without Anomalies of the...

Articles related to Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart:

# Title Authors Year
1
Novel genetic causes for cerebral visual impairment. ( 26350515 )
2016
2
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. ( 27087320 )
2016

Variations for Neurodevelopmental Disorder with or Without Anomalies of the...

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart:

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 RERE NM_012102.3(RERE): c.4293C> A (p.His1431Gln) single nucleotide variant Likely pathogenic rs869312871 GRCh37 Chromosome 1, 8418302: 8418302
2 RERE NM_012102.3(RERE): c.4293C> A (p.His1431Gln) single nucleotide variant Likely pathogenic rs869312871 GRCh38 Chromosome 1, 8358242: 8358242
3 RERE NM_012102.3(RERE): c.3146C> T (p.Pro1049Leu) single nucleotide variant Pathogenic/Likely pathogenic rs878853011 GRCh37 Chromosome 1, 8420421: 8420421
4 RERE NM_012102.3(RERE): c.3146C> T (p.Pro1049Leu) single nucleotide variant Pathogenic/Likely pathogenic rs878853011 GRCh38 Chromosome 1, 8360361: 8360361
5 RERE NM_012102.3(RERE): c.3466G> A (p.Gly1156Arg) single nucleotide variant Pathogenic rs766951273 GRCh37 Chromosome 1, 8419976: 8419976
6 RERE NM_012102.3(RERE): c.3466G> A (p.Gly1156Arg) single nucleotide variant Pathogenic rs766951273 GRCh38 Chromosome 1, 8359916: 8359916
7 RERE NM_012102.3(RERE): c.3785C> G (p.Pro1262Arg) single nucleotide variant Likely pathogenic rs878853270 GRCh37 Chromosome 1, 8418810: 8418810
8 RERE NM_012102.3(RERE): c.3785C> G (p.Pro1262Arg) single nucleotide variant Likely pathogenic rs878853270 GRCh38 Chromosome 1, 8358750: 8358750
9 RERE NM_012102.3(RERE): c.2249_2270dup (p.Thr758Serfs) duplication Pathogenic rs878853252 GRCh38 Chromosome 1, 8361237: 8361258
10 RERE NM_012102.3(RERE): c.2249_2270dup (p.Thr758Serfs) duplication Pathogenic rs878853252 GRCh37 Chromosome 1, 8421297: 8421318
11 RERE NM_012102.3(RERE): c.4313_4318dupTCCACC (p.His1439_Gln1440insLeuHis) duplication Pathogenic rs1064793252 GRCh37 Chromosome 1, 8418277: 8418282
12 RERE NM_012102.3(RERE): c.4313_4318dupTCCACC (p.His1439_Gln1440insLeuHis) duplication Pathogenic rs1064793252 GRCh38 Chromosome 1, 8358217: 8358222
13 RERE NM_012102.3(RERE): c.4304A> T (p.His1435Leu) single nucleotide variant Likely pathogenic rs1553154130 GRCh37 Chromosome 1, 8418291: 8418291
14 RERE NM_012102.3(RERE): c.4304A> T (p.His1435Leu) single nucleotide variant Likely pathogenic rs1553154130 GRCh38 Chromosome 1, 8358231: 8358231
15 RERE NM_012102.3(RERE): c.4304A> G (p.His1435Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1553154130 GRCh37 Chromosome 1, 8418291: 8418291
16 RERE NM_012102.3(RERE): c.4304A> G (p.His1435Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1553154130 GRCh38 Chromosome 1, 8358231: 8358231
17 RERE NM_012102.3(RERE): c.14A> G (p.Lys5Arg) single nucleotide variant Uncertain significance rs1553128615 GRCh37 Chromosome 1, 8716343: 8716343
18 RERE NM_012102.3(RERE): c.14A> G (p.Lys5Arg) single nucleotide variant Uncertain significance rs1553128615 GRCh38 Chromosome 1, 8656284: 8656284
19 RERE NM_012102.3(RERE): c.4319A> G (p.Gln1440Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 8358216: 8358216
20 RERE NM_012102.3(RERE): c.4319A> G (p.Gln1440Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 8418276: 8418276
21 RERE NM_012102.3(RERE): c.4303C> T (p.His1435Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 8358232: 8358232
22 RERE NM_012102.3(RERE): c.4303C> T (p.His1435Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 8418292: 8418292
23 RERE NM_012102.3(RERE): c.4300T> C (p.Ser1434Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 8358235: 8358235
24 RERE NM_012102.3(RERE): c.4300T> C (p.Ser1434Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 8418295: 8418295
25 RERE NM_012102.3(RERE): c.3292C> G (p.Leu1098Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 8360215: 8360215
26 RERE NM_012102.3(RERE): c.3292C> G (p.Leu1098Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 8420275: 8420275
27 RERE NM_012102.3(RERE): c.248dup (p.Ser84Valfs) duplication Pathogenic GRCh38 Chromosome 1, 8656050: 8656050
28 RERE NM_012102.3(RERE): c.248dup (p.Ser84Valfs) duplication Pathogenic GRCh37 Chromosome 1, 8716109: 8716109
29 RERE NC_000001.10 deletion Pathogenic GRCh37 Chromosome 1, 8497191: 8813784
30 RERE NM_012102.3(RERE): c.3346C> A (p.Pro1116Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 8360161: 8360161
31 RERE NM_012102.3(RERE): c.3346C> A (p.Pro1116Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 8420221: 8420221

Expression for Neurodevelopmental Disorder with or Without Anomalies of the...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart.

Pathways for Neurodevelopmental Disorder with or Without Anomalies of the...

GO Terms for Neurodevelopmental Disorder with or Without Anomalies of the...

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