TROFAS
MCID: THV001
MIFTS: 22

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 59 75 6
Trofas 57 75
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome 59

Characteristics:

OMIM:

57
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:

32
thauvin-robinet-faivre syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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)

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 heart, kidney and bone, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
deep-set eyes
coloboma (patient a)
more
Head And Neck Face:
round face
flat midface

Growth Other:
overgrowth
macrosomia

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

Growth Height:
tall stature

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

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

Human phenotypes related to Thauvin-Robinet-Faivre Syndrome:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 occasional (7.5%) HP:0000256
2 hypertelorism 32 HP:0000316
3 macroglossia 32 HP:0000158
4 macrotia 32 HP:0000400
5 global developmental delay 32 HP:0001263
6 pes planus 32 occasional (7.5%) HP:0001763
7 thick vermilion border 32 HP:0012471
8 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
9 intellectual disability, mild 32 HP:0001256
10 strabismus 32 HP:0000486
11 epicanthus 32 HP:0000286
12 deeply set eye 32 HP:0000490
13 mitral valve prolapse 32 HP:0001634
14 downslanted palpebral fissures 32 HP:0000494
15 round face 32 HP:0000311
16 ventricular septal defect 32 occasional (7.5%) HP:0001629
17 varicose veins 32 HP:0002619
18 midface retrusion 32 HP:0011800
19 large hands 32 HP:0001176
20 nephroblastoma 32 occasional (7.5%) HP:0002667
21 large for gestational age 32 HP:0001520
22 renal cyst 32 occasional (7.5%) HP:0000107
23 long hallux 32 HP:0001847
24 coloboma 32 HP:0000589
25 overgrowth 32 HP:0001548
26 renal dysplasia 32 occasional (7.5%) HP:0000110
27 renal malrotation 32 HP:0004712
28 bowing of the legs 32 occasional (7.5%) HP:0002979
29 bifid ureter 32 HP:0030037
30 long foot 32 HP:0001833

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:

41
Heart, Kidney, Bone, Eye

Publications for Thauvin-Robinet-Faivre Syndrome

Variations for Thauvin-Robinet-Faivre Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181
2 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh37 Chromosome 11, 65652652: 65652652
3 FIBP NM_198897.1(FIBP): c.175_176insTAA (p.His59delinsLeuAsn) insertion Pathogenic rs886037928 GRCh37 Chromosome 11, 65655513: 65655514
4 FIBP NM_198897.1(FIBP): c.175_176insTAA (p.His59delinsLeuAsn) insertion Pathogenic rs886037928 GRCh38 Chromosome 11, 65888042: 65888043

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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