TKFCD
MCID: TRK001
MIFTS: 17

Triokinase and Fmn Cyclase Deficiency Syndrome (TKFCD)

Categories: Genetic diseases

Aliases & Classifications for Triokinase and Fmn Cyclase Deficiency Syndrome

MalaCards integrated aliases for Triokinase and Fmn Cyclase Deficiency Syndrome:

Name: Triokinase and Fmn Cyclase Deficiency Syndrome 56 6
Tkfcd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sib pairs from 2 unrelated families (last curated march 2020)
marked clinical variability, inter- and intrafamilial


HPO:

31
triokinase and fmn cyclase deficiency syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Triokinase and Fmn Cyclase Deficiency Syndrome

OMIM : 56 Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed (Wortmann et al., 2020). (618805)

MalaCards based summary : Triokinase and Fmn Cyclase Deficiency Syndrome, is also known as tkfcd. An important gene associated with Triokinase and Fmn Cyclase Deficiency Syndrome is TKFC (Triokinase And FMN Cyclase). Affiliated tissues include liver, and related phenotypes are cataract and hepatomegaly

Related Diseases for Triokinase and Fmn Cyclase Deficiency Syndrome

Symptoms & Phenotypes for Triokinase and Fmn Cyclase Deficiency Syndrome

Human phenotypes related to Triokinase and Fmn Cyclase Deficiency Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 hepatomegaly 31 very rare (1%) HP:0002240
3 hepatic steatosis 31 very rare (1%) HP:0001397
4 dilated cardiomyopathy 31 very rare (1%) HP:0001644
5 microphthalmia 31 very rare (1%) HP:0000568
6 hypoalbuminemia 31 very rare (1%) HP:0003073
7 pancreatitis 31 very rare (1%) HP:0001733
8 reduced systolic function 31 very rare (1%) HP:0006673
9 elevated serum alanine aminotransferase 31 very rare (1%) HP:0031964
10 global developmental delay 31 HP:0001263
11 delayed speech and language development 31 HP:0000750
12 failure to thrive in infancy 31 HP:0001531
13 microcytic anemia 31 HP:0001935
14 motor delay 31 HP:0001270
15 chronic diarrhea 31 HP:0002028
16 cerebellar hypoplasia 31 HP:0001321
17 broad-based gait 31 HP:0002136
18 lactic acidosis 31 HP:0003128
19 delayed cns myelination 31 HP:0002188

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hypoalbuminemia
abnormal liver function
elevated plasma alanine transaminase
progressive noncholestatic liver failure
more
Hematology:
microcytic anemia

Neurologic Central Nervous System:
motor delay
cerebellar hypoplasia
developmental delay
wide-based gait
speech delay
more
Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
diarrhea from early infancy
oral hypersensitivity

Growth Other:
failure to thrive

Cardiovascular Heart:
dilated cardiomyopathy
poor systolic function

Head And Neck Eyes:
microphthalmia
cataract, congenital

Abdomen Pancreas:
pancreatitis

Clinical features from OMIM:

618805

Drugs & Therapeutics for Triokinase and Fmn Cyclase Deficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Triokinase and Fmn Cyclase Deficiency Syndrome

Genetic Tests for Triokinase and Fmn Cyclase Deficiency Syndrome

Anatomical Context for Triokinase and Fmn Cyclase Deficiency Syndrome

MalaCards organs/tissues related to Triokinase and Fmn Cyclase Deficiency Syndrome:

40
Liver

Publications for Triokinase and Fmn Cyclase Deficiency Syndrome

Articles related to Triokinase and Fmn Cyclase Deficiency Syndrome:

# Title Authors PMID Year
1
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. 56
32004446 2020
2
Elimination of undesired cross-reactants by using mixtures of antibodies: experimental and theoretical evaluations of hapten radioimmunoassays. 6
2004446 1991

Variations for Triokinase and Fmn Cyclase Deficiency Syndrome

ClinVar genetic disease variations for Triokinase and Fmn Cyclase Deficiency Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TKFC NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)SNV Likely pathogenic 816699 rs547013163 11:61113875-61113875 11:61346403-61346403
2 TKFC NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser)SNV Likely pathogenic 816700 11:61112824-61112824 11:61345352-61345352

Expression for Triokinase and Fmn Cyclase Deficiency Syndrome

Search GEO for disease gene expression data for Triokinase and Fmn Cyclase Deficiency Syndrome.

Pathways for Triokinase and Fmn Cyclase Deficiency Syndrome

GO Terms for Triokinase and Fmn Cyclase Deficiency Syndrome

Sources for Triokinase and Fmn Cyclase Deficiency 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
Content
Loading form....