Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neurodevelopmental Disorder with Structural Brain Anomalies and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

Name: Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ⁵⁶ ⁷³ ⁶ ¹⁷

Nedbaf ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618577

MeSH ⁴³ D065886

MedGen ⁴¹ CN262311

EFO ¹⁷ EFO_0010563

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Summaries for Neurodevelopmental Disorder with Structural Brain Anomalies and...

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum.

MalaCards based summary : Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies, is also known as nedbaf. An important gene associated with Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies is RAC3 (Rac Family Small GTPase 3). Affiliated tissues include brain and eye.

More information from OMIM: 618577

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Related Diseases for Neurodevelopmental Disorder with Structural Brain Anomalies and...

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Symptoms & Phenotypes for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
global developmental delay
polymicrogyria
enlarged ventricles
seizures (in some patients)
corpus callosum abnormalities
more

Head And Neck Eyes:
hypertelorism
long eyelashes
high-arched eyebrows
prominent eyes
narrow palpebral fissures

Head And Neck Head:
brachycephaly

Head And Neck Teeth:
dental crowding

Skeletal Hands:
clinodactyly
tapering fingers

Head And Neck Ears:
simple ears

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
short nose
anteverted nares
broad nasal tip

Skeletal Spine:
scoliosis

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
short philtrum
prominent glabella
dysmorphic features, variable
frontal bossing, sloping forehead

Head And Neck Mouth:
high-arched palate
full lips

Muscle Soft Tissue:
abnormal tone

Clinical features from OMIM:

618577

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Drugs & Therapeutics for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies

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Genetic Tests for Neurodevelopmental Disorder with Structural Brain Anomalies and...

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Anatomical Context for Neurodevelopmental Disorder with Structural Brain Anomalies and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

⁴⁰

Brain, Eye

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Publications for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Articles related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

#	Title	Authors	PMID	Year
1	De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. ⁶ ⁵⁶	Costain G...Meyn MS	30293988	2019
2	WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. ⁵⁶ ⁶	White JJ...Carvalho CMB	29276006	2018

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Genes for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Genes related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RAC3	Rac Family Small GTPase 3	Protein Coding	844.07	Molecular basis known ⁵⁶ Causative variation ⁷³ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	29276006 30293988

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Variations for Neurodevelopmental Disorder with Structural Brain Anomalies and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RAC3	NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)	SNV	Pathogenic	585004	rs1568018697	17:79990313-79990313	17:82032437-82032437
2	RAC3	NM_005052.3(RAC3):c.182A>T (p.Gln61Leu)	SNV	Pathogenic	585005	rs1568018920	17:79990661-79990661	17:82032785-82032785
3	RAC3	NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	SNV	Likely pathogenic	488059	rs1379395211	17:79990655-79990655	17:82032779-82032779
4	RAC3	NM_005052.3(RAC3):c.184G>A (p.Glu62Lys)	SNV	Uncertain significance	425149	rs1064797229	17:79990663-79990663	17:82032787-82032787

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

⁷³

#	Symbol	AA change	Variation ID
1	RAC3	p.Pro29Leu	VAR_083040
2	RAC3	p.Gln61Leu	VAR_083041
3	RAC3	p.Glu62Lys	VAR_083042
4	RAC3	p.Ala59Gly	VAR_083245

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Expression for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies.

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Pathways for Neurodevelopmental Disorder with Structural Brain Anomalies and...

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GO Terms for Neurodevelopmental Disorder with Structural Brain Anomalies and...

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Sources for Neurodevelopmental Disorder with Structural Brain Anomalies and...

¹ BioSystems

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⁴ Cell Signaling Technology

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¹⁰ dbSNP

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²³ GeneHancer via GeneCards

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⁴⁰ MalaCards

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⁴⁴ MESH via Orphanet

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies (NEDBAF)

Aliases & Classifications for Neurodevelopmental Disorder with Structural Brain Anomalies and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Related Diseases for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Genetic Tests for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Anatomical Context for Neurodevelopmental Disorder with Structural Brain Anomalies and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

Publications for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Articles related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

Genes for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Genes related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies (1 elite genes):

Variations for Neurodevelopmental Disorder with Structural Brain Anomalies and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

Expression for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Pathways for Neurodevelopmental Disorder with Structural Brain Anomalies and...

GO Terms for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Sources for Neurodevelopmental Disorder with Structural Brain Anomalies and...