NSDVS1
MCID: NBS001
MIFTS: 13

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

Categories: Genetic diseases, Neuronal diseases

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 56
Neurodevelopmental Disorder with Microcephaly and Dysmorphic Facies 56 6
Neurodevelopmental Disorder with Microcephaly and Dysmorphic Facies; Nedmidf 56
Nedmidf 56
Nsdvs1 56

Characteristics:

OMIM:

56
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)


Classifications:



External Ids:

OMIM 56 618828

Summaries for Nabais Sa-De Vries Syndrome, Type 1

OMIM : 56 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)

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).

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

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

Symptoms via clinical synopsis from OMIM:

56
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

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

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

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities, variable

Genitourinary Bladder:
vesicoureteral reflux (patient a)

Clinical features from OMIM:

618828

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

Search Clinical Trials , NIH Clinical Center 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

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 56
32109420 2020

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 Pathogenic 830355 17:47696461-47696461 17:49619099-49619099
2 SPOP NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)SNV Pathogenic 830356 17:47696393-47696393 17:49619031-49619031

Expression for Nabais Sa-De Vries Syndrome, Type 1

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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