NSDVS2
MCID: NBS002
MIFTS: 16

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

Categories: Genetic diseases, Neuronal 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 56
Neurodevelopmental Disorder with Relative Macrocephaly and with or Without Cardiac or Endocrine Anomalies 56 6
Neurodevelopmental Disorder with Relative Macrocephaly and with or Without Cardiac or Endocrine Anomalies; Nedmace 56
Nedmace 56
Nsdvs2 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 56 618829

Summaries for Nabais Sa-De Vries Syndrome, Type 2

OMIM : 56 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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

56
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
Growth Other:
failure to thrive

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

Respiratory:
respiratory insufficiency
sleep apnea

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)

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

Head And Neck Face:
prominent forehead
micrognathia
long face
pointed chin

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

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

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

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 56
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 Pathogenic 830357 17:47696428-47696428 17:49619066-49619066
2 SPOP NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)SNV Pathogenic 830358 17:47700100-47700100 17:49622738-49622738
3 SPOP NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)SNV Pathogenic 830359 17:47696411-47696411 17:49619049-49619049
4 SPOP NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)SNV Pathogenic 830360 17:47696700-47696700 17:49619338-49619338

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
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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