SNIBFIS
MCID: SNJ003
MIFTS: 14

Snijders Blok-Fisher Syndrome (SNIBFIS)

Categories: Genetic diseases

Aliases & Classifications for Snijders Blok-Fisher Syndrome

MalaCards integrated aliases for Snijders Blok-Fisher Syndrome:

Name: Snijders Blok-Fisher Syndrome 56 6
Snibfis 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 56 618604

Summaries for Snijders Blok-Fisher Syndrome

OMIM : 56 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)

MalaCards based summary : Snijders Blok-Fisher Syndrome, is also known as snibfis. An important gene associated with Snijders Blok-Fisher Syndrome is POU3F3 (POU Class 3 Homeobox 3). Affiliated tissues include brain.

Related Diseases for Snijders Blok-Fisher Syndrome

Symptoms & Phenotypes for Snijders Blok-Fisher Syndrome

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
periorbital fullness
epicanthal folds
slanted palpebral fissures
more
Neurologic Central Nervous System:
global developmental delay
delayed myelination
cerebral atrophy
sleep disturbances
seizures (rare)
more
Head And Neck Face:
smooth philtrum

Skeletal Feet:
pes cavus

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

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

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

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

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
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 56
31303265 2019

Variations for Snijders Blok-Fisher Syndrome

ClinVar genetic disease variations for Snijders Blok-Fisher Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POU3F3 NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu)SNV Pathogenic 691582 2:105473053-105473053 2:104856595-104856595
2 POU3F3 NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu)SNV Pathogenic 691583 2:105473188-105473188 2:104856730-104856730
3 POU3F3 NM_006236.3(POU3F3):c.1367A>G (p.Asn456Ser)SNV Pathogenic 691584 2:105473335-105473335 2:104856877-104856877
4 POU3F3 NM_006236.3(POU3F3):c.196_197delinsT (p.Asp66fs)indel Pathogenic 691585 2:105472164-105472165 2:104855706-104855707
5 POU3F3 NM_006236.3(POU3F3):c.668C>A (p.Ser223Ter)SNV Pathogenic 691586 2:105472636-105472636 2:104856178-104856178
6 POU3F3 NM_006236.3(POU3F3):c.1284C>A (p.Cys428Ter)SNV Pathogenic 691587 2:105473252-105473252 2:104856794-104856794

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
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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