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 57 75 6
Nedbeh 57 75
Rere-Related Neurodevelopmental Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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. 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, and related phenotypes are cryptorchidism and hypospadias

OMIM : 57 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:

57
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

GenitourinaryInternal GenitaliaMale:
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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypospadias 32 HP:0000047
3 vesicoureteral reflux 32 HP:0000076
4 epicanthus 32 HP:0000286
5 micrognathia 32 HP:0000347
6 posteriorly rotated ears 32 HP:0000358
7 low-set ears 32 HP:0000369
8 anteverted nares 32 HP:0000463
9 strabismus 32 HP:0000486
10 downslanted palpebral fissures 32 HP:0000494
11 microphthalmia 32 HP:0000568
12 blepharophimosis 32 HP:0000581
13 coloboma 32 HP:0000589
14 optic atrophy 32 HP:0000648
15 autistic behavior 32 HP:0000729
16 dysarthria 32 HP:0001260
17 global developmental delay 32 HP:0001263
18 generalized hypotonia 32 HP:0001290
19 cerebellar vermis hypoplasia 32 HP:0001320
20 intrauterine growth retardation 32 HP:0001511
21 ventricular septal defect 32 HP:0001629
22 frontal bossing 32 HP:0002007
23 gastroesophageal reflux 32 HP:0002020
24 hypoplasia of the corpus callosum 32 HP:0002079
25 ventriculomegaly 32 HP:0002119
26 short stature 32 HP:0004322
27 broad eyebrow 32 HP:0011229
28 feeding difficulties 32 HP:0011968

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:

41
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
(show all 12)
# 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.3466G> A (p.Gly1156Arg) single nucleotide variant Pathogenic rs766951273 GRCh37 Chromosome 1, 8419976: 8419976
4 RERE NM_012102.3(RERE): c.3466G> A (p.Gly1156Arg) single nucleotide variant Pathogenic rs766951273 GRCh38 Chromosome 1, 8359916: 8359916
5 RERE NM_012102.3(RERE): c.3785C> G (p.Pro1262Arg) single nucleotide variant Likely pathogenic rs878853270 GRCh37 Chromosome 1, 8418810: 8418810
6 RERE NM_012102.3(RERE): c.3785C> G (p.Pro1262Arg) single nucleotide variant Likely pathogenic rs878853270 GRCh38 Chromosome 1, 8358750: 8358750
7 RERE NM_012102.3(RERE): c.2249_2270dup22 (p.Thr758Serfs) duplication Pathogenic rs878853252 GRCh38 Chromosome 1, 8361237: 8361258
8 RERE NM_012102.3(RERE): c.2249_2270dup22 (p.Thr758Serfs) duplication Pathogenic rs878853252 GRCh37 Chromosome 1, 8421297: 8421318
9 RERE NM_012102.3(RERE): c.4313_4318dupTCCACC (p.His1439_Gln1440insLeuHis) duplication Pathogenic rs1064793252 GRCh37 Chromosome 1, 8418277: 8418282
10 RERE NM_012102.3(RERE): c.4313_4318dupTCCACC (p.His1439_Gln1440insLeuHis) duplication Pathogenic rs1064793252 GRCh38 Chromosome 1, 8358217: 8358222
11 RERE NM_012102.3(RERE): c.4304A> G (p.His1435Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 8418291: 8418291
12 RERE NM_012102.3(RERE): c.4304A> G (p.His1435Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 8358231: 8358231

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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