Nabais Sa-De Vries Syndrome, Type 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NSDVS1 MCID: NBS001 MIFTS: 20	Nabais Sa-De Vries Syndrome, Type 1 (NSDVS1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Smell/Taste diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Nabais Sa-De Vries Syndrome, Type 1

MalaCards integrated aliases for Nabais Sa-De Vries Syndrome, Type 1:

Name: Nabais Sa-De Vries Syndrome, Type 1 ⁵⁷ ⁷³

Neurodevelopmental Disorder with Microcephaly and Dysmorphic Facies ⁵⁷ ⁷³ ⁶

Nedmidf ⁵⁷ ⁷³

Nsdvs1 ⁵⁷ ⁷³

Neurodevelopmental Disorder with Microcephaly and Dysmorphic Facies; Nedmidf ⁵⁷

Nabais Sa-De Vries Syndrome 1 ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth
patient a had a more severe phenotype
two unrelated patients have been reported (last curated march 2020)

HPO:

³¹

nabais sa-de vries syndrome, type 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases Neuronal diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618828

MeSH ⁴⁴ D065886

MedGen ⁴¹ C5394218 CN272909

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Summaries for Nabais Sa-De Vries Syndrome, Type 1

UniProtKB/Swiss-Prot : ⁷³ Nabais Sa-de Vries syndrome 1: An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show congenital microcephaly and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose.

MalaCards based summary : Nabais Sa-De Vries Syndrome, Type 1, is also known as neurodevelopmental disorder with microcephaly and dysmorphic facies. An important gene associated with Nabais Sa-De Vries Syndrome, Type 1 is SPOP (Speckle Type BTB/POZ Protein). Affiliated tissues include eye, and related phenotypes are intellectual disability and self-injurious behavior

OMIM® : ⁵⁷ Nabais Sa-de Vries syndrome type 1 (NSDVS1) is characterized by global developmental delay apparent from infancy, variable behavioral abnormalities, microcephaly, and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. The severity is variable (summary by Nabais Sa et al., 2020). (618828) (Updated 05-Mar-2021)

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Related Diseases for Nabais Sa-De Vries Syndrome, Type 1

Diseases in the Nabais Sa-De Vries Syndrome, Type 2 family:

Nabais Sa-De Vries Syndrome, Type 1

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Symptoms & Phenotypes for Nabais Sa-De Vries Syndrome, Type 1

Human phenotypes related to Nabais Sa-De Vries Syndrome, Type 1:

³¹ (show all 36)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	self-injurious behavior ³¹	very rare (1%)	HP:0100716
3	hearing impairment ³¹	very rare (1%)	HP:0000365
4	global developmental delay ³¹	very rare (1%)	HP:0001263
5	depressed nasal bridge ³¹	very rare (1%)	HP:0005280
6	delayed speech and language development ³¹	very rare (1%)	HP:0000750
7	short nose ³¹	very rare (1%)	HP:0003196
8	smooth philtrum ³¹	very rare (1%)	HP:0000319
9	brachycephaly ³¹	very rare (1%)	HP:0000248
10	epicanthus ³¹	very rare (1%)	HP:0000286
11	neonatal respiratory distress ³¹	very rare (1%)	HP:0002643
12	downslanted palpebral fissures ³¹	very rare (1%)	HP:0000494
13	clinodactyly of the 5th finger ³¹	very rare (1%)	HP:0004209
14	vesicoureteral reflux ³¹	very rare (1%)	HP:0000076
15	highly arched eyebrow ³¹	very rare (1%)	HP:0002553
16	deeply set eye ³¹	very rare (1%)	HP:0000490
17	low anterior hairline ³¹	very rare (1%)	HP:0000294
18	prominent nasal bridge ³¹	very rare (1%)	HP:0000426
19	bulbous nose ³¹	very rare (1%)	HP:0000414
20	telecanthus ³¹	very rare (1%)	HP:0000506
21	pointed chin ³¹	very rare (1%)	HP:0000307
22	sacral dimple ³¹	very rare (1%)	HP:0000960
23	thickened helices ³¹	very rare (1%)	HP:0000391
24	underdeveloped supraorbital ridges ³¹	very rare (1%)	HP:0009891
25	synophrys ³¹	very rare (1%)	HP:0000664
26	long eyelashes ³¹	very rare (1%)	HP:0000527
27	prolonged neonatal jaundice ³¹	very rare (1%)	HP:0006579
28	gastrostomy tube feeding in infancy ³¹	very rare (1%)	HP:0011471
29	optic nerve hypoplasia ³¹	very rare (1%)	HP:0000609
30	prominent glabella ³¹	very rare (1%)	HP:0002057
31	narrow palpebral fissure ³¹	very rare (1%)	HP:0045025
32	narrow forehead ³¹	very rare (1%)	HP:0000341
33	congenital microcephaly ³¹	very rare (1%)	HP:0011451
34	delayed ability to walk ³¹	very rare (1%)	HP:0031936
35	simplified gyral pattern ³¹	very rare (1%)	HP:0009879
36	hypertonia ³¹		HP:0001276

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
global developmental delay
speech delay
impaired intellectual development
delayed walking (by age 3 years)

Head And Neck Face:
micrognathia
pointed chin
round face
prominent glabella
small forehead
more

Skin Nails Hair Hair:
low anterior hairline

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities, variable

Respiratory:
respiratory insufficiency (patient a)
tracheostomy (patient a)

Head And Neck Head:
microcephaly, congenital (-4 to -5 sd)

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
short nose
anteverted nares
prominent nasal bridge
more

Head And Neck Eyes:
epicanthus
blepharophimosis
synophrys
downslanting palpebral fissures
high-arched eyebrows
more

Head And Neck Ears:
hearing loss

Abdomen Gastrointestinal:
poor feeding (patient a)
tube feeding (patient a)

Genitourinary Bladder:
vesicoureteral reflux (patient a)

Clinical features from OMIM®:

618828 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Nabais Sa-De Vries Syndrome, Type 1

Search Clinical Trials , NIH Clinical Center for Nabais Sa-De Vries Syndrome, Type 1

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Genetic Tests for Nabais Sa-De Vries Syndrome, Type 1

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Anatomical Context for Nabais Sa-De Vries Syndrome, Type 1

MalaCards organs/tissues related to Nabais Sa-De Vries Syndrome, Type 1:

⁴⁰

Eye

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Publications for Nabais Sa-De Vries Syndrome, Type 1

Articles related to Nabais Sa-De Vries Syndrome, Type 1:

#	Title	Authors	PMID	Year
1	De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. ⁶ ⁵⁷	Nabais Sa MJ...de Vries BBA	32109420	2020

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Genes for Nabais Sa-De Vries Syndrome, Type 1

Genes related to Nabais Sa-De Vries Syndrome, Type 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPOP	Speckle Type BTB/POZ Protein	Protein Coding	825	Molecular basis known ⁵⁷ Causative variation ⁷³ Likely pathogenic ⁶	32109420

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Variations for Nabais Sa-De Vries Syndrome, Type 1

ClinVar genetic disease variations for Nabais Sa-De Vries Syndrome, Type 1:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SPOP	NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)	SNV	Likely pathogenic	830355		17:47696461-47696461	17:49619099-49619099
2	SPOP	NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)	SNV	Likely pathogenic	830356		17:47696393-47696393	17:49619031-49619031

UniProtKB/Swiss-Prot genetic disease variations for Nabais Sa-De Vries Syndrome, Type 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SPOP	p.Arg121Gln	VAR_083853
2	SPOP	p.Asp144Asn	VAR_083856

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Expression for Nabais Sa-De Vries Syndrome, Type 1

Search GEO for disease gene expression data for Nabais Sa-De Vries Syndrome, Type 1.

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Pathways for Nabais Sa-De Vries Syndrome, Type 1

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GO Terms for Nabais Sa-De Vries Syndrome, Type 1

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Sources for Nabais Sa-De Vries Syndrome, Type 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Nabais Sa-De Vries Syndrome, Type 1 (NSDVS1)

Aliases & Classifications for Nabais Sa-De Vries Syndrome, Type 1

MalaCards integrated aliases for Nabais Sa-De Vries Syndrome, Type 1:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Nabais Sa-De Vries Syndrome, Type 1

Related Diseases for Nabais Sa-De Vries Syndrome, Type 1

Diseases in the Nabais Sa-De Vries Syndrome, Type 2 family:

Symptoms & Phenotypes for Nabais Sa-De Vries Syndrome, Type 1

Human phenotypes related to Nabais Sa-De Vries Syndrome, Type 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Nabais Sa-De Vries Syndrome, Type 1

Genetic Tests for Nabais Sa-De Vries Syndrome, Type 1

Anatomical Context for Nabais Sa-De Vries Syndrome, Type 1

MalaCards organs/tissues related to Nabais Sa-De Vries Syndrome, Type 1:

Publications for Nabais Sa-De Vries Syndrome, Type 1

Articles related to Nabais Sa-De Vries Syndrome, Type 1:

Genes for Nabais Sa-De Vries Syndrome, Type 1

Genes related to Nabais Sa-De Vries Syndrome, Type 1 (1 elite genes):

Variations for Nabais Sa-De Vries Syndrome, Type 1

ClinVar genetic disease variations for Nabais Sa-De Vries Syndrome, Type 1:

UniProtKB/Swiss-Prot genetic disease variations for Nabais Sa-De Vries Syndrome, Type 1:

Expression for Nabais Sa-De Vries Syndrome, Type 1

Pathways for Nabais Sa-De Vries Syndrome, Type 1

GO Terms for Nabais Sa-De Vries Syndrome, Type 1

Sources for Nabais Sa-De Vries Syndrome, Type 1