MCID: THV001
MIFTS: 22

Thauvin-Robinet-Faivre Syndrome

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Fetal 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 eye, and related phenotypes are renal cyst and renal dysplasia

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

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, 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

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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