TKFCD
MCID: TRK001
MIFTS: 19

Triokinase and Fmn Cyclase Deficiency Syndrome (TKFCD)

Categories: Cardiovascular diseases, Genetic diseases, Liver 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 57 73 6
Tkfcd 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 57 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) (Updated 05-Mar-2021)

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

UniProtKB/Swiss-Prot : 73 Triokinase and FMN cyclase deficiency syndrome: An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness.

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®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

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

Abdomen Liver:
hepatomegaly
hypoalbuminemia
abnormal liver function
elevated plasma alanine transaminase
progressive noncholestatic liver failure
more
Cardiovascular Heart:
dilated cardiomyopathy
poor systolic function

Head And Neck Eyes:
microphthalmia
cataract, congenital

Abdomen Pancreas:
pancreatitis

Clinical features from OMIM®:

618805 (Updated 05-Mar-2021)

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. 6 57
32004446 2020

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 Pathogenic 816699 rs547013163 11:61113875-61113875 11:61346403-61346403
2 TKFC NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser) SNV Pathogenic 816700 rs1590578831 11:61112824-61112824 11:61345352-61345352

UniProtKB/Swiss-Prot genetic disease variations for Triokinase and Fmn Cyclase Deficiency Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TKFC p.Gly445Ser VAR_083849
2 TKFC p.Arg543Ile VAR_083850

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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