NSDVS1
MCID: NBS001
MIFTS: 20

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

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Smell/Taste 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 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:



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)

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

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)

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

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

40
Eye

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
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 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

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....