MCID: SNR002
MIFTS: 17

Sener Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Sener Syndrome

MalaCards integrated aliases for Sener Syndrome:

Name: Sener Syndrome 56 52 71
Frontonasal Dysplasia and Dilated Virchow-Robin Spaces 56 52
Polycystic Brain Associated with Ectodermal Dysplasia 52

Characteristics:

OMIM:

56
Inheritance:
isolated cases


HPO:

31
sener syndrome:
Inheritance sporadic


Classifications:



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 global developmental delay and inguinal hernia

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:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 inguinal hernia 31 HP:0000023
3 hypertelorism 31 HP:0000316
4 umbilical hernia 31 HP:0001537
5 microtia 31 HP:0008551
6 smooth philtrum 31 HP:0000319
7 coarse hair 31 HP:0002208
8 high palate 31 HP:0000218
9 wide mouth 31 HP:0000154
10 micropenis 31 HP:0000054
11 polyhydramnios 31 HP:0001561
12 patent ductus arteriosus 31 HP:0001643
13 hypodontia 31 HP:0000668
14 chronic diarrhea 31 HP:0002028
15 eczema 31 HP:0000964
16 wide anterior fontanel 31 HP:0000260
17 anteriorly placed anus 31 HP:0001545
18 hypoplasia of the corpus callosum 31 HP:0002079
19 posteriorly rotated ears 31 HP:0000358
20 entropion 31 HP:0000621
21 natal tooth 31 HP:0000695
22 delayed eruption of permanent teeth 31 HP:0000696
23 perivascular spaces 31 HP:0012520
24 hyperopic astigmatism 31 HP:0000484

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia
short penis

Abdomen External Features:
umbilical hernia

Skin Nails Hair Hair:
coarse hair

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Skin Nails Hair Skin:
eczema

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

Head And Neck Eyes:
hypertelorism
entropion
hyperopic astigmatism

Head And Neck Face:
smooth philtrum

Head And Neck Mouth:
wide mouth
high-arched palate

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastrointestinal:
chronic diarrhea
anteriorly placed anus

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:

40
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. 56 61
10928859 2000
2
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 56
25052316 2015
3
Cerebro-fronto-facial syndrome: three types? 56
11311000 2001
4
Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome. 56
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 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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