TROFAS
MCID: THV001
MIFTS: 21

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 58 60 76 6
Trofas 58 76
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome 60

Characteristics:

OMIM:

58
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:

33
thauvin-robinet-faivre syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thauvin-Robinet-Faivre Syndrome

OMIM : 58 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 kidney, eye and bone, and related phenotypes are macrocephaly and pes planus

UniProtKB/Swiss-Prot : 76 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:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 occasional (7.5%) HP:0000256
2 pes planus 33 occasional (7.5%) HP:0001763
3 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
4 ventricular septal defect 33 occasional (7.5%) HP:0001629
5 nephroblastoma 33 occasional (7.5%) HP:0002667
6 renal cyst 33 occasional (7.5%) HP:0000107
7 renal dysplasia 33 occasional (7.5%) HP:0000110
8 bowing of the legs 33 occasional (7.5%) HP:0002979
9 hypertelorism 33 HP:0000316
10 macroglossia 33 HP:0000158
11 macrotia 33 HP:0000400
12 global developmental delay 33 HP:0001263
13 thick vermilion border 33 HP:0012471
14 intellectual disability, mild 33 HP:0001256
15 strabismus 33 HP:0000486
16 epicanthus 33 HP:0000286
17 mitral valve prolapse 33 HP:0001634
18 deeply set eye 33 HP:0000490
19 downslanted palpebral fissures 33 HP:0000494
20 round face 33 HP:0000311
21 varicose veins 33 HP:0002619
22 midface retrusion 33 HP:0011800
23 large hands 33 HP:0001176
24 large for gestational age 33 HP:0001520
25 overgrowth 33 HP:0001548
26 long hallux 33 HP:0001847
27 coloboma 33 HP:0000589
28 renal malrotation 33 HP:0004712
29 bifid ureter 33 HP:0030037
30 long foot 33 HP:0001833

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Kidney, Eye, Bone

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

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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