NSDVS2
MCID: NBS002
MIFTS: 23

Nabais Sa-De Vries Syndrome, Type 2 (NSDVS2)

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

Aliases & Classifications for Nabais Sa-De Vries Syndrome, Type 2

MalaCards integrated aliases for Nabais Sa-De Vries Syndrome, Type 2:

Name: Nabais Sa-De Vries Syndrome, Type 2 57 73
Neurodevelopmental Disorder with Relative Macrocephaly and with or Without Cardiac or Endocrine Anomalies 57 73 6
Nedmace 57 73
Nsdvs2 57 73
Neurodevelopmental Disorder with Relative Macrocephaly and with or Without Cardiac or Endocrine Anomalies; Nedmace 57
Nabais Sa-De Vries Syndrome 2 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth
five unrelated patients have been reported (last curated march 2020)


HPO:

31
nabais sa-de vries syndrome, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Nabais Sa-De Vries Syndrome, Type 2

OMIM® : 57 Nabais Sa-de Vries syndrome type 2 (NSDVS2) is characterized by global developmental delay apparent from birth and distinctive dysmorphic facial features. Most patients have additional anomalies, including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities, such as hypothyroidism (summary by Nabais Sa et al., 2020). (618829) (Updated 05-Mar-2021)

MalaCards based summary : Nabais Sa-De Vries Syndrome, Type 2, is also known as neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies. An important gene associated with Nabais Sa-De Vries Syndrome, Type 2 is SPOP (Speckle Type BTB/POZ Protein). Affiliated tissues include heart, eye and brain, and related phenotypes are intellectual disability and frontal bossing

UniProtKB/Swiss-Prot : 73 Nabais Sa-de Vries syndrome 2: An autosomal dominant disorder characterized by global developmental delay apparent from birth, impaired intellectual development, speech delay, dysmorphic facial features, and additional anomalies including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities.

Related Diseases for Nabais Sa-De Vries Syndrome, Type 2

Symptoms & Phenotypes for Nabais Sa-De Vries Syndrome, Type 2

Human phenotypes related to Nabais Sa-De Vries Syndrome, Type 2:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 frontal bossing 31 very rare (1%) HP:0002007
3 sleep apnea 31 very rare (1%) HP:0010535
4 high palate 31 very rare (1%) HP:0000218
5 hypothyroidism 31 very rare (1%) HP:0000821
6 chorea 31 very rare (1%) HP:0002072
7 depressed nasal bridge 31 very rare (1%) HP:0005280
8 hypertelorism 31 very rare (1%) HP:0000316
9 delayed speech and language development 31 very rare (1%) HP:0000750
10 microtia 31 very rare (1%) HP:0008551
11 anteverted nares 31 very rare (1%) HP:0000463
12 neonatal hypotonia 31 very rare (1%) HP:0001319
13 gastroesophageal reflux 31 very rare (1%) HP:0002020
14 feeding difficulties in infancy 31 very rare (1%) HP:0008872
15 strabismus 31 very rare (1%) HP:0000486
16 micrognathia 31 very rare (1%) HP:0000347
17 low-set ears 31 very rare (1%) HP:0000369
18 failure to thrive in infancy 31 very rare (1%) HP:0001531
19 hypoplastic left heart 31 very rare (1%) HP:0004383
20 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
21 polyhydramnios 31 very rare (1%) HP:0001561
22 protruding ear 31 very rare (1%) HP:0000411
23 deeply set eye 31 very rare (1%) HP:0000490
24 large forehead 31 very rare (1%) HP:0002003
25 prominent nasal bridge 31 very rare (1%) HP:0000426
26 bulbous nose 31 very rare (1%) HP:0000414
27 pointed chin 31 very rare (1%) HP:0000307
28 dystonia 31 very rare (1%) HP:0001332
29 migraine 31 very rare (1%) HP:0002076
30 thin vermilion border 31 very rare (1%) HP:0000233
31 triangular face 31 very rare (1%) HP:0000325
32 multicystic kidney dysplasia 31 very rare (1%) HP:0000003
33 tapered finger 31 very rare (1%) HP:0001182
34 posteriorly rotated ears 31 very rare (1%) HP:0000358
35 prominent nose 31 very rare (1%) HP:0000448
36 sparse eyebrow 31 very rare (1%) HP:0045075
37 hemiparesis 31 very rare (1%) HP:0001269
38 bilateral cleft lip and palate 31 very rare (1%) HP:0002744
39 long palpebral fissure 31 very rare (1%) HP:0000637
40 chronic constipation 31 very rare (1%) HP:0012450
41 delayed ability to walk 31 very rare (1%) HP:0031936
42 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
global developmental delay
sleep disturbances
hypotonia
seizures (in some patients)
speech delay
more
Head And Neck Nose:
wide nasal bridge
prominent nasal bridge
low hanging columella
low nasal bridge
bulbous nasal tip
more
Head And Neck Face:
prominent forehead
micrognathia
long face
pointed chin

Head And Neck Ears:
low-set ears
small ears
prominent ears

Skin Nails Hair Hair:
high anterior hairline

Head And Neck Head:
macrocephaly, relative and absolute (up to +4 sd)

Endocrine Features:
low testosterone (1 patient)
hypothyroidism (2 patients)

Respiratory:
sleep apnea
respiratory insufficiency

Head And Neck Eyes:
hypertelorism
strabismus
deep-set eyes
sparse eyebrows
long palpebral fissures
more
Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Cardiovascular Heart:
patent ductus arteriosus
septal defects
congenital heart disease
hypoplastic left heart syndrome

Cardiovascular Vascular:
pulmonary stenosis

Genitourinary External Genitalia Male:
hypogonadism (1 patient)

Clinical features from OMIM®:

618829 (Updated 05-Mar-2021)

Drugs & Therapeutics for Nabais Sa-De Vries Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Nabais Sa-De Vries Syndrome, Type 2

Genetic Tests for Nabais Sa-De Vries Syndrome, Type 2

Anatomical Context for Nabais Sa-De Vries Syndrome, Type 2

MalaCards organs/tissues related to Nabais Sa-De Vries Syndrome, Type 2:

40
Heart, Eye, Brain, Kidney

Publications for Nabais Sa-De Vries Syndrome, Type 2

Articles related to Nabais Sa-De Vries Syndrome, Type 2:

# 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 2

ClinVar genetic disease variations for Nabais Sa-De Vries Syndrome, Type 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPOP NM_001007228.2(SPOP):c.395G>T (p.Gly132Val) SNV Likely pathogenic 830357 17:47696428-47696428 17:49619066-49619066
2 SPOP NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala) SNV Likely pathogenic 830358 17:47700100-47700100 17:49622738-49622738
3 SPOP NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) SNV Likely pathogenic 830359 17:47696411-47696411 17:49619049-49619049
4 SPOP NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys) SNV Likely pathogenic 830360 17:47696700-47696700 17:49619338-49619338

UniProtKB/Swiss-Prot genetic disease variations for Nabais Sa-De Vries Syndrome, Type 2:

73
# Symbol AA change Variation ID SNP ID
1 SPOP p.Thr25Ala VAR_083851
2 SPOP p.Tyr83Cys VAR_083852
3 SPOP p.Gly132Val VAR_083854
4 SPOP p.Arg138Cys VAR_083855

Expression for Nabais Sa-De Vries Syndrome, Type 2

Search GEO for disease gene expression data for Nabais Sa-De Vries Syndrome, Type 2.

Pathways for Nabais Sa-De Vries Syndrome, Type 2

GO Terms for Nabais Sa-De Vries Syndrome, Type 2

Sources for Nabais Sa-De Vries Syndrome, Type 2

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
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