MCID: NRD024
MIFTS: 16

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

Categories: Genetic diseases, Neuronal 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 54 71
Nedbeh 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 54 616975
MedGen 40 CN236788

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. 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 : 54
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:

id Related Disease Score Top Affiliating Genes
1 chromosome 1p36 deletion syndrome 11.1

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

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
optic atrophy
strabismus
downslanting palpebral fissures
epicanthal folds
microphthalmia
more
Head And Neck- Ears:
low-set ears
posteriorly rotated ears

Head And Neck- Face:
micrognathia
frontal bossing

Genitourinary- External Genitalia Male:
hypospadias

Genitourinary- Internal Genitalia Male:
cryptorchidism

Neurologic- Behavioral Psychiatric Manifestations:
autism spectrum disorder
behavioral abnormalities

Genitourinary- Kidneys:
cystic kidney

Muscle Soft Tissue:
hypotonia

Neurologic- Central Nervous System:
dysarthria
ventriculomegaly
thin corpus callosum
global developmental delay
decreased white matter volume
more
Abdomen- Gastroin testinal:
poor feeding
gastroesophageal reflux

Growth- Other:
intrauterine growth retardation
poor postnatal growth

Head And Neck- Nose:
anteverted nares

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

Genitourinary- Bladder:
vesicoureteral reflux


Clinical features from OMIM:

616975

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome Completed NCT01018082

Search 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:

39
Heart, Brain, Eye

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
id 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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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