BEFAHRS
MCID: BCK019
MIFTS: 20

Beck-Fahrner Syndrome (BEFAHRS)

Categories: Genetic diseases

Aliases & Classifications for Beck-Fahrner Syndrome

MalaCards integrated aliases for Beck-Fahrner Syndrome:

Name: Beck-Fahrner Syndrome 56 73 6
Befahrs 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
highly variable phenotype and severity
both autosomal dominant and autosomal recessive inheritance has been reported
some heterozygous carriers in autosomal recessive families have milder symptoms


HPO:

31

Classifications:



Summaries for Beck-Fahrner Syndrome

OMIM : 56 Beck-Fahrner syndrome (BEFAHRS) is a developmental disorder characterized by global developmental delay with variably impaired intellectual development. Affected individuals often have behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD), as well as learning disabilities. Most patients have hypotonia and dysmorphic facies. Some may have growth abnormalities, including overgrowth or poor growth, poor feeding, and rarely, seizures. Although both monoallelic and biallelic mutations have been reported, some heterozygous carriers in autosomal recessive families may have milder symptoms; thus, both groups are included in this entry (summary by Beck et al., 2020). (618798)

MalaCards based summary : Beck-Fahrner Syndrome, is also known as befahrs. An important gene associated with Beck-Fahrner Syndrome is TET3 (Tet Methylcytosine Dioxygenase 3). Related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 73 Beck-Fahrner syndrome: A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported.

Related Diseases for Beck-Fahrner Syndrome

Symptoms & Phenotypes for Beck-Fahrner Syndrome

Human phenotypes related to Beck-Fahrner Syndrome:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 hip dysplasia 31 very rare (1%) HP:0001385
4 macrocephaly 31 very rare (1%) HP:0000256
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 pes planus 31 very rare (1%) HP:0001763
7 microcephaly 31 very rare (1%) HP:0000252
8 eeg abnormality 31 very rare (1%) HP:0002353
9 feeding difficulties in infancy 31 very rare (1%) HP:0008872
10 brachycephaly 31 very rare (1%) HP:0000248
11 cardiomegaly 31 very rare (1%) HP:0001640
12 nystagmus 31 very rare (1%) HP:0000639
13 strabismus 31 very rare (1%) HP:0000486
14 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
15 high palate 31 very rare (1%) HP:0000218
16 anxiety 31 very rare (1%) HP:0000739
17 ptosis 31 very rare (1%) HP:0000508
18 depressivity 31 very rare (1%) HP:0000716
19 joint hypermobility 31 very rare (1%) HP:0001382
20 open mouth 31 very rare (1%) HP:0000194
21 long face 31 very rare (1%) HP:0000276
22 long philtrum 31 very rare (1%) HP:0000343
23 protruding ear 31 very rare (1%) HP:0000411
24 ventriculomegaly 31 very rare (1%) HP:0002119
25 ventricular septal defect 31 very rare (1%) HP:0001629
26 accelerated skeletal maturation 31 very rare (1%) HP:0005616
27 delayed gross motor development 31 very rare (1%) HP:0002194
28 generalized hypotonia 31 very rare (1%) HP:0001290
29 periventricular leukomalacia 31 very rare (1%) HP:0006970
30 lacrimal duct stenosis 31 very rare (1%) HP:0007678
31 facial hypotonia 31 very rare (1%) HP:0000297
32 impaired social interactions 31 very rare (1%) HP:0000735
33 delayed fine motor development 31 very rare (1%) HP:0010862
34 seizure 31 very rare (1%) HP:0001250
35 extra-axial cerebrospinal fluid accumulation 31 very rare (1%) HP:0012510
36 broad forehead 31 HP:0000337
37 high forehead 31 HP:0000348

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
short nose

Head And Neck Head:
brachycephaly
macrocephaly (+2 sd) (in some patients)
microcephaly (-2 sd) (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features
depression
obsessive-compulsive disorder
adhd

Neurologic Central Nervous System:
dyslexia
poor speech
hypotonia
seizures (in some patients)
delayed walking
more
Head And Neck Ears:
protruding ears

Head And Neck Face:
smooth philtrum
long face
broad forehead
myopathic face
dysmorphic features

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Mouth:
open mouth
high-arched palate

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
thick eyebrows

Growth Other:
poor growth (in some patients)
overgrowth (in some patients)

Clinical features from OMIM:

618798

Drugs & Therapeutics for Beck-Fahrner Syndrome

Search Clinical Trials , NIH Clinical Center for Beck-Fahrner Syndrome

Genetic Tests for Beck-Fahrner Syndrome

Anatomical Context for Beck-Fahrner Syndrome

Publications for Beck-Fahrner Syndrome

Articles related to Beck-Fahrner Syndrome:

# Title Authors PMID Year
1
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. 56
31928709 2020
2
[Complications caused by protamine. 1: Pharmacology and pathophysiology]. 6
1928709 1991

Variations for Beck-Fahrner Syndrome

ClinVar genetic disease variations for Beck-Fahrner Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TET3 NM_001287491.2(TET3):c.3265G>A (p.Val1089Met)SNV Pathogenic 816630 2:74320791-74320791 2:74093664-74093664
2 TET3 NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys)SNV Pathogenic 816631 2:74275298-74275298 2:74048171-74048171
3 TET3 NM_001287491.2(TET3):c.3215T>G (p.Phe1072Cys)SNV Pathogenic 816632 2:74320741-74320741 2:74093614-74093614
4 TET3 NM_001287491.2(TET3):c.3226G>A (p.Ala1076Thr)SNV Pathogenic 816633 2:74320752-74320752 2:74093625-74093625
5 TET3 NM_001287491.2(TET3):c.2722G>T (p.Val908Leu)SNV Pathogenic 816634 2:74314999-74314999 2:74087872-74087872
6 TET3 NM_001287491.2(TET3):c.2552C>T (p.Thr851Met)SNV Pathogenic 816635 2:74300733-74300733 2:74073606-74073606
7 TET3 NM_001287491.2(TET3):c.5083C>T (p.Gln1695Ter)SNV Pathogenic 816636 2:74328998-74328998 2:74101871-74101871
8 TET3 NM_001287491.2(TET3):c.4977_4983del (p.His1660fs)deletion Pathogenic 816637 2:74328890-74328896 2:74101763-74101769
9 TET3 NM_001287491.2(TET3):c.1215del (p.Trp406fs)deletion Pathogenic 816638 2:74274259-74274259 2:74047132-74047132

Expression for Beck-Fahrner Syndrome

Search GEO for disease gene expression data for Beck-Fahrner Syndrome.

Pathways for Beck-Fahrner Syndrome

GO Terms for Beck-Fahrner Syndrome

Sources for Beck-Fahrner 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
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43 MeSH
44 MESH via Orphanet
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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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