TROFAS
MCID: THV001
MIFTS: 24

Thauvin-Robinet-Faivre Syndrome (TROFAS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thauvin-Robinet-Faivre Syndrome

MalaCards integrated aliases for Thauvin-Robinet-Faivre Syndrome:

Name: Thauvin-Robinet-Faivre Syndrome 57 58 72 36 6
Trofas 57 72
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome 58

Characteristics:

OMIM®:

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

Miscellaneous:
variable features
three sibs from a consanguineous family and 1 unrelated patient (patient a) have been reported (last curated september 2016)


HPO:

31
thauvin-robinet-faivre syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Thauvin-Robinet-Faivre Syndrome

OMIM® : 57 Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016). (617107) (Updated 20-May-2021)

MalaCards based summary : Thauvin-Robinet-Faivre Syndrome, is also known as trofas. An important gene associated with Thauvin-Robinet-Faivre Syndrome is FIBP (FGF1 Intracellular Binding Protein). Affiliated tissues include eye and kidney, and related phenotypes are macrocephaly and intellectual disability

KEGG : 36 Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, that is known to be implicated in the FGF signaling pathway.

UniProtKB/Swiss-Prot : 72 Thauvin-Robinet-Faivre syndrome: A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects.

Related Diseases for Thauvin-Robinet-Faivre Syndrome

Symptoms & Phenotypes for Thauvin-Robinet-Faivre Syndrome

Human phenotypes related to Thauvin-Robinet-Faivre Syndrome:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0000256
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
5 sensorineural hearing impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0000407
6 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
7 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
8 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
9 ventricular septal defect 58 31 occasional (7.5%) Frequent (79-30%) HP:0001629
10 large for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001520
11 camptodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012385
12 renal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0004712
13 bifid ureter 58 31 frequent (33%) Frequent (79-30%) HP:0030037
14 retinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000480
15 proportionate tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0011407
16 chronic neutropenia 58 31 frequent (33%) Frequent (79-30%) HP:0410252
17 transient neutropenia 58 31 frequent (33%) Frequent (79-30%) HP:0410255
18 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
19 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
20 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
21 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
22 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
23 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
24 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
25 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
26 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
27 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
28 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
29 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
30 varicose veins 58 31 occasional (7.5%) Occasional (29-5%) HP:0002619
31 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
32 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
33 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
34 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
35 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
36 enlarged kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000105
37 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
38 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
39 abnormal thumb morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001172
40 long hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0001847
41 tibial torsion 58 31 occasional (7.5%) Occasional (29-5%) HP:0100694
42 tibial bowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002982
43 long palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000637
44 long foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001833
45 abnormal right ventricle morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001707
46 abnormal femoral torsion 58 31 occasional (7.5%) Occasional (29-5%) HP:0031069
47 pes planus 31 occasional (7.5%) HP:0001763
48 renal cyst 31 occasional (7.5%) HP:0000107
49 renal dysplasia 31 occasional (7.5%) HP:0000110
50 bowing of the legs 31 occasional (7.5%) HP:0002979

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
deep-set eyes
coloboma (patient a)
more
Growth Height:
tall stature

Genitourinary Kidneys:
renal malrotation
renal abnormalities (in some patients)
cystic kidneys (1 patient)
dysplastic kidneys (1 patient)

Head And Neck Mouth:
thick lips
macroglossia (patient a)

Head And Neck Head:
macrocephaly (in some patients)

Cardiovascular Vascular:
varicose veins, severe (patient a)

Skeletal Limbs:
bowing of the legs (1 patient)
internal rotation of the leg bones (1 patient)

Skeletal Feet:
large feet (patient a)
large halluces (patient a)
flat feet (1 patient)

Neoplasia:
wilms tumor (1 patient)

Neurologic Central Nervous System:
intellectual disability, mild
learning disabilities
language disabilities
delayed psychomotor development, mild

Head And Neck Face:
round face
flat midface

Growth Other:
overgrowth
macrosomia

Cardiovascular Heart:
ventricular septal defect (in some patients)
mitral valve prolapse (patient a)

Head And Neck Ears:
sensorineural hearing loss (1 patient)
large ears (patient a)

Genitourinary Ureters:
bifid ureter (patient a)

Skeletal Hands:
large hands (patient a)
large thumbs (patient a)

Immunology:
neutropenia, benign (in some patients)

Laboratory Abnormalities:
fibroblasts showed increased proliferation compared to controls

Clinical features from OMIM®:

617107 (Updated 20-May-2021)

Drugs & Therapeutics for Thauvin-Robinet-Faivre Syndrome

Search Clinical Trials , NIH Clinical Center for Thauvin-Robinet-Faivre Syndrome

Genetic Tests for Thauvin-Robinet-Faivre Syndrome

Anatomical Context for Thauvin-Robinet-Faivre Syndrome

MalaCards organs/tissues related to Thauvin-Robinet-Faivre Syndrome:

40
Eye, Kidney

Publications for Thauvin-Robinet-Faivre Syndrome

Articles related to Thauvin-Robinet-Faivre Syndrome:

# Title Authors PMID Year
1
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. 57 6
27183861 2016
2
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. 57 6
26660953 2016

Variations for Thauvin-Robinet-Faivre Syndrome

ClinVar genetic disease variations for Thauvin-Robinet-Faivre Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FIBP NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn) Insertion Pathogenic 254242 rs886037928 GRCh37: 11:65655513-65655514
GRCh38: 11:65888042-65888043
2 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) SNV Pathogenic 189359 rs786204849 GRCh37: 11:65652652-65652652
GRCh38: 11:65885181-65885181
3 FIBP NM_004214.5(FIBP):c.412-11C>G SNV Uncertain significance 800840 rs1591078042 GRCh37: 11:65653904-65653904
GRCh38: 11:65886433-65886433
4 FIBP NM_004214.5(FIBP):c.1004G>C (p.Arg335Pro) SNV Uncertain significance 1033667 GRCh37: 11:65651863-65651863
GRCh38: 11:65884392-65884392
5 FIBP NM_004214.5(FIBP):c.668A>G (p.Asp223Gly) SNV Uncertain significance 1033668 GRCh37: 11:65652636-65652636
GRCh38: 11:65885165-65885165

Expression for Thauvin-Robinet-Faivre Syndrome

Search GEO for disease gene expression data for Thauvin-Robinet-Faivre Syndrome.

Pathways for Thauvin-Robinet-Faivre Syndrome

GO Terms for Thauvin-Robinet-Faivre Syndrome

Sources for Thauvin-Robinet-Faivre 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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