SNIBFIS
MCID: SNJ003
MIFTS: 25

Snijders Blok-Fisher Syndrome (SNIBFIS)

Categories: Ear diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Snijders Blok-Fisher Syndrome

MalaCards integrated aliases for Snijders Blok-Fisher Syndrome:

Name: Snijders Blok-Fisher Syndrome 57 72 36 6 17
Snibfis 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation (in most patients)


HPO:

31
snijders blok-fisher syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Snijders Blok-Fisher Syndrome

OMIM® : 57 Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation and most have mild to moderately impaired cognition with autistic features, although a few may develop seizures and have a more severe phenotype. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies. Mutations usually occur de novo, although 1 family with autosomal dominant inheritance has been reported (summary by Snijders Blok et al., 2019). (618604) (Updated 20-May-2021)

MalaCards based summary : Snijders Blok-Fisher Syndrome, also known as snibfis, is related to alacrima, achalasia, and mental retardation syndrome and epilepsy. An important gene associated with Snijders Blok-Fisher Syndrome is POU3F3 (POU Class 3 Homeobox 3). Affiliated tissues include olfactory bulb and brain, and related phenotypes are intellectual disability and sleep disturbance

KEGG : 36 Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the central nervous system.

UniProtKB/Swiss-Prot : 72 Snijders Blok-Fisher syndrome: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies.

Related Diseases for Snijders Blok-Fisher Syndrome

Diseases related to Snijders Blok-Fisher Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.4
2 epilepsy 10.4
3 hemangioma 10.4
4 hypotonia 10.4

Symptoms & Phenotypes for Snijders Blok-Fisher Syndrome

Human phenotypes related to Snijders Blok-Fisher Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 sleep disturbance 31 very rare (1%) HP:0002360
3 global developmental delay 31 very rare (1%) HP:0001263
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 cryptorchidism 31 very rare (1%) HP:0000028
6 epicanthus 31 very rare (1%) HP:0000286
7 protruding ear 31 very rare (1%) HP:0000411
8 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
9 cupped ear 31 very rare (1%) HP:0000378
10 choreoathetosis 31 very rare (1%) HP:0001266
11 autistic behavior 31 very rare (1%) HP:0000729
12 generalized hypotonia 31 very rare (1%) HP:0001290
13 hypoplasia of the olfactory bulb 31 very rare (1%) HP:0040326
14 postural instability 31 very rare (1%) HP:0002172
15 drooling 31 very rare (1%) HP:0002307
16 facial hypotonia 31 very rare (1%) HP:0000297
17 opisthotonus 31 very rare (1%) HP:0002179
18 delayed cns myelination 31 very rare (1%) HP:0002188
19 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
cerebral atrophy
delayed myelination
sleep disturbances
seizures (rare)
more
Head And Neck Eyes:
hypertelorism
strabismus
periorbital fullness
epicanthal folds
slanted palpebral fissures
more
Head And Neck Ears:
low-set ears
prominent ears
cupped ears

Skeletal Feet:
pes cavus

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip

Head And Neck Face:
smooth philtrum

Head And Neck Mouth:
open mouth
full lips
oromotor dysfunction

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
broad thumbs
short digits

Clinical features from OMIM®:

618604 (Updated 20-May-2021)

Drugs & Therapeutics for Snijders Blok-Fisher Syndrome

Search Clinical Trials , NIH Clinical Center for Snijders Blok-Fisher Syndrome

Genetic Tests for Snijders Blok-Fisher Syndrome

Anatomical Context for Snijders Blok-Fisher Syndrome

MalaCards organs/tissues related to Snijders Blok-Fisher Syndrome:

40
Olfactory Bulb, Brain

Publications for Snijders Blok-Fisher Syndrome

Articles related to Snijders Blok-Fisher Syndrome:

# Title Authors PMID Year
1
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. 6 57
31303265 2019
2
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report. 61
33645921 2021

Variations for Snijders Blok-Fisher Syndrome

ClinVar genetic disease variations for Snijders Blok-Fisher Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POU3F3 NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu) SNV Pathogenic 691582 rs1158292126 GRCh37: 2:105473053-105473053
GRCh38: 2:104856595-104856595
2 POU3F3 NM_006236.3(POU3F3):c.1367A>G (p.Asn456Ser) SNV Pathogenic 691584 rs1573321115 GRCh37: 2:105473335-105473335
GRCh38: 2:104856877-104856877
3 POU3F3 NM_006236.3(POU3F3):c.196_197delinsT (p.Asp66fs) Indel Pathogenic 691585 rs1573319752 GRCh37: 2:105472164-105472165
GRCh38: 2:104855706-104855707
4 POU3F3 NM_006236.3(POU3F3):c.668C>A (p.Ser223Ter) SNV Pathogenic 691586 rs1573320413 GRCh37: 2:105472636-105472636
GRCh38: 2:104856178-104856178
5 POU3F3 NM_006236.3(POU3F3):c.1284C>A (p.Cys428Ter) SNV Pathogenic 691587 rs1424499058 GRCh37: 2:105473252-105473252
GRCh38: 2:104856794-104856794
6 POU3F3 NM_006236.3(POU3F3):c.398_407del (p.Pro133fs) Deletion Pathogenic 807662 rs1573320043 GRCh37: 2:105472360-105472369
GRCh38: 2:104855902-104855911
7 POU3F3 NM_006236.3(POU3F3):c.1217A>G (p.Lys406Arg) SNV Likely pathogenic 976720 GRCh37: 2:105473185-105473185
GRCh38: 2:104856727-104856727
8 POU3F3 NM_006236.3(POU3F3):c.1018_1019delinsTT (p.Gln340Leu) Indel Likely pathogenic 984445 GRCh37: 2:105472986-105472987
GRCh38: 2:104856528-104856529
9 POU3F3 NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu) SNV Uncertain significance 691583 rs1573320988 GRCh37: 2:105473188-105473188
GRCh38: 2:104856730-104856730

UniProtKB/Swiss-Prot genetic disease variations for Snijders Blok-Fisher Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 POU3F3 p.Arg362Leu VAR_083086
2 POU3F3 p.Arg407Gly VAR_083087
3 POU3F3 p.Arg407Leu VAR_083088
4 POU3F3 p.Asn456Ser VAR_083091

Expression for Snijders Blok-Fisher Syndrome

Search GEO for disease gene expression data for Snijders Blok-Fisher Syndrome.

Pathways for Snijders Blok-Fisher Syndrome

GO Terms for Snijders Blok-Fisher Syndrome

Sources for Snijders Blok-Fisher Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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