MCID: NRD024
MIFTS: 22

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

Categories: Genetic diseases, Neuronal diseases, Fetal 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 53 71
Nedbeh 53 71
Rere-Related Neurodevelopmental Syndrome 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
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 : 71 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 nedbeh, is related to chromosome 1p36 deletion syndrome, and has symptoms including low-set ears, frontal bossing and dysarthria. 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 heart, brain and eye.

OMIM : 53 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 chromosome 1p36 deletion syndrome 11.2

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

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
gastroesophageal reflux
poor feeding

Growth Other:
intrauterine growth retardation
poor postnatal growth

Genitourinary Bladder:
vesicoureteral reflux

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
behavioral abnormalities

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

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

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 frontal bossing 31 HP:0002007
3 dysarthria 31 HP:0001260
4 global developmental delay 31 HP:0001263
5 anteverted nares 31 HP:0000463
6 optic atrophy 31 HP:0000648
7 short stature 31 HP:0004322
8 gastroesophageal reflux 31 HP:0002020
9 micrognathia 31 HP:0000347
10 feeding difficulties 31 HP:0011968
11 strabismus 31 HP:0000486
12 epicanthus 31 HP:0000286
13 cryptorchidism 31 HP:0000028
14 intrauterine growth retardation 31 HP:0001511
15 ventriculomegaly 31 HP:0002119
16 microphthalmia 31 HP:0000568
17 hypospadias 31 HP:0000047
18 downslanted palpebral fissures 31 HP:0000494
19 vesicoureteral reflux 31 HP:0000076
20 ventricular septal defect 31 HP:0001629
21 blepharophimosis 31 HP:0000581
22 hypoplasia of the corpus callosum 31 HP:0002079
23 autistic behavior 31 HP:0000729
24 cerebellar vermis hypoplasia 31 HP:0001320
25 generalized hypotonia 31 HP:0001290
26 posteriorly rotated ears 31 HP:0000358
27 coloboma 31 HP:0000589
28 broad eyebrow 31 HP:0011229

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:

38
Heart, Brain, Eye, Kidney

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

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
# Gene Variation Type Significance SNP ID Assembly Location
1 RERE NM_012102.3(RERE): c.4293C> A (p.His1431Gln) single nucleotide variant Pathogenic/Likely pathogenic rs869312871 GRCh37 Chromosome 1, 8418302: 8418302
2 RERE NM_012102.3(RERE): c.3466G> A (p.Gly1156Arg) single nucleotide variant Pathogenic rs766951273 GRCh37 Chromosome 1, 8419976: 8419976
3 RERE NM_012102.3(RERE): c.3785C> G (p.Pro1262Arg) single nucleotide variant Pathogenic/Likely pathogenic rs878853270 GRCh37 Chromosome 1, 8418810: 8418810
4 RERE NM_012102.3(RERE): c.2249_2270dup22 (p.Thr758Serfs) duplication Pathogenic rs878853252 GRCh38 Chromosome 1, 8361237: 8361258
5 RERE NM_012102.3(RERE): c.4313_4318dupTCCACC (p.His1439_Gln1440insLeuHis) duplication Pathogenic rs1064793252 GRCh38 Chromosome 1, 8358217: 8358222

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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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