MCID: SNR002
MIFTS: 15

Sener Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Sener Syndrome

MalaCards integrated aliases for Sener Syndrome:

Name: Sener Syndrome 57 53 72
Frontonasal Dysplasia and Dilated Virchow-Robin Spaces 57 53
Polycystic Brain Associated with Ectodermal Dysplasia 53

Characteristics:

OMIM:

57
Inheritance:
isolated cases


HPO:

32
sener syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 606156
MedGen 42 C1853616
UMLS 72 C1853616

Summaries for Sener Syndrome

MalaCards based summary : Sener Syndrome, also known as frontonasal dysplasia and dilated virchow-robin spaces, is related to frontonasal dysplasia 1. Affiliated tissues include brain, and related phenotypes are hypertelorism and high palate

More information from OMIM: 606156

Related Diseases for Sener Syndrome

Diseases related to Sener Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 1 10.2

Symptoms & Phenotypes for Sener Syndrome

Human phenotypes related to Sener Syndrome:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 high palate 32 HP:0000218
3 inguinal hernia 32 HP:0000023
4 global developmental delay 32 HP:0001263
5 umbilical hernia 32 HP:0001537
6 microtia 32 HP:0008551
7 smooth philtrum 32 HP:0000319
8 coarse hair 32 HP:0002208
9 patent ductus arteriosus 32 HP:0001643
10 wide mouth 32 HP:0000154
11 micropenis 32 HP:0000054
12 polyhydramnios 32 HP:0001561
13 chronic diarrhea 32 HP:0002028
14 eczema 32 HP:0000964
15 hypodontia 32 HP:0000668
16 wide anterior fontanel 32 HP:0000260
17 anteriorly placed anus 32 HP:0001545
18 hypoplasia of the corpus callosum 32 HP:0002079
19 posteriorly rotated ears 32 HP:0000358
20 entropion 32 HP:0000621
21 natal tooth 32 HP:0000695
22 perivascular spaces 32 HP:0012520
23 delayed eruption of permanent teeth 32 HP:0000696
24 hyperopic astigmatism 32 HP:0000484

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
entropion
hyperopic astigmatism

Abdomen External Features:
umbilical hernia

Skin Nails Hair Hair:
coarse hair

Head And Neck Mouth:
wide mouth
high-arched palate

Abdomen Gastrointestinal:
chronic diarrhea
anteriorly placed anus

Head And Neck Teeth:
hypodontia
neonatal teeth
delayed eruption of secondary teeth

Neurologic Central Nervous System:
developmental delay
hypoplastic corpus callosum
dilated virchow-robin spaces

Genitourinary External Genitalia Male:
inguinal hernia
short penis

Head And Neck Face:
smooth philtrum

Cardiovascular Vascular:
patent ductus arteriosus

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Skin:
eczema

Head And Neck Ears:
posteriorly rotated ears
small ears

Head And Neck Head:
large anterior fontanelle

Clinical features from OMIM:

606156

Drugs & Therapeutics for Sener Syndrome

Search Clinical Trials , NIH Clinical Center for Sener Syndrome

Genetic Tests for Sener Syndrome

Anatomical Context for Sener Syndrome

MalaCards organs/tissues related to Sener Syndrome:

41
Brain

Publications for Sener Syndrome

Articles related to Sener Syndrome:

# Title Authors PMID Year
1
Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces. 38 8
10928859 2000
2
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 8
25052316 2015
3
Cerebro-fronto-facial syndrome: three types? 8
11311000 2001
4
Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome. 8
8078711 1994

Variations for Sener Syndrome

Expression for Sener Syndrome

Search GEO for disease gene expression data for Sener Syndrome.

Pathways for Sener Syndrome

GO Terms for Sener Syndrome

Sources for Sener Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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