FTHS
MCID: FRN039
MIFTS: 53

Frank-Ter Haar Syndrome (FTHS)

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

Aliases & Classifications for Frank-Ter Haar Syndrome

MalaCards integrated aliases for Frank-Ter Haar Syndrome:

Name: Frank-Ter Haar Syndrome 57 12 58 73 36 29 13 6 15 39
Ter Haar Syndrome 57 12 20 58 73 44 71
Borrone Dermatocardioskeletal Syndrome 57 12 73 6
Fths 57 12 73
Megalocornea, Multiple Skeletal Anomalies, and Developmental Delay 12 20
Autosomal Recessive Melnick-Needles Syndrome 12 73
Melnick-Needles Syndrome, Autosomal Recessive, Formerly 57
Borrone Di Rocco Crovato Syndrome 71
Frank Ter Haar Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
frank-ter haar syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
frank-ter haar syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Frank-Ter Haar Syndrome

OMIM® : 57 The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014). (249420) (Updated 05-Mar-2021)

MalaCards based summary : Frank-Ter Haar Syndrome, also known as ter haar syndrome, is related to borrone di rocco crovato syndrome and megalocornea. An important gene associated with Frank-Ter Haar Syndrome is SH3PXD2B (SH3 And PX Domains 2B), and among its related pathways/superpathways are Salmonella infection (KEGG) and Development ERBB-family signaling. Affiliated tissues include eye, heart and bone, and related phenotypes are coarse facial features and depressed nasal bridge

Disease Ontology : 12 An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has material basis in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1.

GARD : 20 Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.

KEGG : 36 Frank Ter Haar syndrome (FTHS) is a rare skeletal dysplasia with classical features like megalocornea, finger flexion deformities, prominent coccyx and heart defects. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, small chin, bowing of the long bones, and flexion deformity of the fingers. The most common underlying genetic defect in FTHS appears to be a mutation in the SH3PXD2B gene. Patients appeared to share many of the craniofacial and skeletal features normally associated with Melnick-Needles syndrome. However the autosomal recessive pattern of inheritance and congenital cardiac defects distinguished the syndrome as a separate entity.

UniProtKB/Swiss-Prot : 73 Frank-Ter Haar syndrome: A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers.

Wikipedia : 74 Frank-Ter Haar syndrome (FTHS), also known as Ter Haar-syndrome, is a rare disease characterized by... more...

Related Diseases for Frank-Ter Haar Syndrome

Diseases related to Frank-Ter Haar Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 borrone di rocco crovato syndrome 11.3
2 megalocornea 10.7
3 hypertelorism 10.7
4 autosomal recessive disease 10.6
5 heart septal defect 10.5
6 intraocular pressure quantitative trait locus 10.4
7 atrial heart septal defect 10.4
8 intracranial hypertension 10.4
9 hajdu-cheney syndrome 10.3
10 fibrosis of extraocular muscles, congenital, 1 10.3
11 melnick-needles syndrome 10.3
12 gallbladder disease 1 10.3
13 scoliosis 10.3
14 suppression amblyopia 10.3
15 amblyopia 10.3
16 ametropic amblyopia 10.3
17 corneal edema 10.3
18 respiratory failure 10.3
19 synostosis 10.3
20 papilledema 10.3
21 ventricular septal defect 10.3
22 craniosynostosis 10.3
23 papilloma 10.3
24 double outlet right ventricle 10.3
25 ocular hypertension 10.3
26 48,xyyy 10.3
27 hypotonia 10.3
28 otopalatodigital syndrome spectrum disorder 10.0 SH3PXD2B SH3PXD2A PRODH
29 prolapse of urethra 10.0 EGF CTTN
30 winchester syndrome 9.9 SH3PXD2B MMP14
31 cystathioninuria 9.8 PRODH AMT
32 polycystic kidney disease 9.7 SRC MMP14 EGF CTTN
33 histidine metabolism disease 9.7 PRODH HAL AMT
34 histidinemia 9.6 PRODH HAL AMT
35 wiskott-aldrich syndrome 9.6 WASL SRC CTTN
36 squamous cell carcinoma, head and neck 9.6 SRC MMP14 EGF CTTN
37 cutis laxa, autosomal dominant 3 9.5 MTHFS MTHFD1 AMT
38 cutis laxa, autosomal dominant 2 9.5 MTHFS MTHFD1 AMT
39 cutis laxa, autosomal dominant 1 9.5 MTHFS MTHFD1 AMT

Graphical network of the top 20 diseases related to Frank-Ter Haar Syndrome:



Diseases related to Frank-Ter Haar Syndrome

Symptoms & Phenotypes for Frank-Ter Haar Syndrome

Human phenotypes related to Frank-Ter Haar Syndrome:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 avascular necrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010885
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
7 acne 58 31 hallmark (90%) Very frequent (99-80%) HP:0001061
8 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
9 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
10 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
11 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
12 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
13 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
14 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
15 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
16 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
17 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
18 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
19 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
20 beaking of vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004568
21 genu recurvatum 58 31 frequent (33%) Frequent (79-30%) HP:0002816
22 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
23 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
24 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
25 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
26 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
27 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
28 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
29 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
30 premature loss of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006480
31 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
32 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
33 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
34 motor delay 31 occasional (7.5%) HP:0001270
35 abnormal heart morphology 31 occasional (7.5%) HP:0001627
36 high palate 31 HP:0000218
37 osteopenia 31 HP:0000938
38 hip dysplasia 31 HP:0001385
39 bowing of the long bones 31 HP:0006487
40 dental malocclusion 31 HP:0000689
41 prominent forehead 31 HP:0011220
42 full cheeks 31 HP:0000293
43 metatarsus adductus 31 HP:0001840
44 osteoporosis 31 HP:0000939
45 growth delay 31 HP:0001510
46 micrognathia 31 HP:0000347
47 low-set ears 31 HP:0000369
48 pectus excavatum 31 HP:0000767
49 talipes equinovarus 31 HP:0001762
50 glaucoma 31 HP:0000501

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal:
osteopenia
osteoporosis

Skeletal Pelvis:
hip dysplasia
decreased acetabular angle

Head And Neck Face:
full cheeks
micrognathia
coarse face

Head And Neck Ears:
low-set ears
simple ears
protruding ears
acne conglobata

Head And Neck Mouth:
wide mouth
high-arched palate
gingival hypertrophy

Skeletal Limbs:
cortical irregularity
metaphyseal flaring
shortened bowed long bones

Skeletal Spine:
prominent coccyx
tall vertebrae
anteriorly concave vertebrae
abnormal sternum

Head And Neck Teeth:
malocclusion

Neurologic Central Nervous System:
motor delay (in some patients)

Skin Nails Hair Skin:
acne conglobata
thick skin on face

Head And Neck Eyes:
hypertelorism
glaucoma
buphthalmos
downslanting palpebral fissures
edematous eyelids
more
Head And Neck Head:
prominent forehead
flat occiput
large anterior fontanel

Skeletal Feet:
metatarsus adductus
talipes equinovarus

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
broad clavicles

Skeletal Skull:
wormian bones
delayed fontanel closure

Head And Neck Nose:
broad nasal tip
anteverted nostrils
wide and flat nasal bridge

Growth Other:
growth retardation

Skeletal Hands:
short phalanges
flexion deformities of fingers

Growth Height:
short to normal stature

Cardiovascular Heart:
congenital heart defect (in some patients)
mitral valve anomaly

Clinical features from OMIM®:

249420 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Frank-Ter Haar Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 AMT CTTN MMP14 MTHFD1 NCK2 SH3PXD2A
2 limbs/digits/tail MP:0005371 9.43 MMP14 MTHFD1 PRODH SH3PXD2A SH3PXD2B SRC
3 mortality/aging MP:0010768 9.32 AMT CTTN ERGIC1 MMP14 MTHFD1 MTHFS

Drugs & Therapeutics for Frank-Ter Haar Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 "COTIDEA COmparison Between Continued Inpatient Treatment Versus Day Patient Treatment (Partial Hospitalization) After Short Inpatient Care in Early Onset Anorexia Nervosa: a Non-inferiority Trial A Non-inferiority Study" Not yet recruiting NCT04479683

Search NIH Clinical Center for Frank-Ter Haar Syndrome

Cochrane evidence based reviews: ter haar syndrome

Genetic Tests for Frank-Ter Haar Syndrome

Genetic tests related to Frank-Ter Haar Syndrome:

# Genetic test Affiliating Genes
1 Frank-Ter Haar Syndrome 29 SH3PXD2B

Anatomical Context for Frank-Ter Haar Syndrome

MalaCards organs/tissues related to Frank-Ter Haar Syndrome:

40
Eye, Heart, Bone, Skin

Publications for Frank-Ter Haar Syndrome

Articles related to Frank-Ter Haar Syndrome:

(show all 36)
# Title Authors PMID Year
1
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. 61 57 6
24105366 2014
2
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. 57 6 61
20137777 2010
3
Further delineation of Frank-ter Haar syndrome. 61 57 6
15523657 2004
4
New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers. 57 6
8484415 1993
5
Melnick-Needles syndrome: indication for an autosomal recessive form. 57 6
7158646 1982
6
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. 57 61
21282566 2011
7
Siblings with glaucoma, mental retardation and short stature. 57 61
14564159 2003
8
Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome. 61 57
9188664 1997
9
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. 61 57
7778598 1995
10
Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome. 57
17480005 2007
11
Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. 57
9375925 1997
12
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 57
8723560 1996
13
Bowen syndrome: congenital glaucoma, flexion contracture of fingers and facial dysmorphism without peroxisomal abnormalities. 57
1537359 1992
14
Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? 57
4805907 1973
15
The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome. 61
33234702 2020
16
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum. 61
31978614 2020
17
A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma. 61
31809395 2020
18
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling. 61
31218820 2019
19
Significance of the Tks4 scaffold protein in bone tissue homeostasis. 61
30962481 2019
20
EGF Regulates the Interaction of Tks4 with Src through Its SH2 and SH3 Domains. 61
29928795 2018
21
Anaesthesia and orphan diseases: difficult tracheal intubation in a child with Frank-ter Haar syndrome. 61
29870476 2018
22
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. 61
29100834 2017
23
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature. 61
28694206 2017
24
The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages. 61
27711054 2016
25
Frank-ter Haar syndrome--additional findings? 61
26582053 2016
26
Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes. 61
26183326 2015
27
Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome. 61
23709337 2014
28
Common dental features and craniofacial development of three siblings with Ter Haar syndrome. 61
24085649 2014
29
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. 61
23140272 2012
30
Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration. 61
22829589 2012
31
Frank-Ter Haar syndrome in a newborn. 61
22037860 2012
32
Frank-Ter Haar Syndrome. 61
21453629 2011
33
Frank-ter Haar syndrome with unusual clinical features. 61
19303467 2009
34
Mitral valve repair in a patient with Ter Haar Syndrome. 61
16948766 2006
35
[Ter Haar syndrome]. 61
11528983 2001
36
A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome? 61
9610002 1998

Variations for Frank-Ter Haar Syndrome

ClinVar genetic disease variations for Frank-Ter Haar Syndrome:

6 (show top 50) (show all 211)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3PXD2B NM_001017995.3(SH3PXD2B):c.401+1G>A SNV Pathogenic 55933 rs367543284 5:171809039-171809039 5:172382035-172382035
2 SH3PXD2B NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del Deletion Pathogenic 217131 5:171758785-171771367 5:172331781-172344363
3 SH3PXD2B NM_001017995.3(SH3PXD2B):c.401+1G>A SNV Pathogenic 55933 rs367543284 5:171809039-171809039 5:172382035-172382035
4 SH3PXD2B NM_001017995.3(SH3PXD2B):c.76-2A>C SNV Pathogenic 191 rs775217258 5:171849502-171849502 5:172422498-172422498
5 SH3PXD2B NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) SNV Pathogenic 190 rs267607046 5:171849449-171849449 5:172422445-172422445
6 SH3PXD2B NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter) Duplication Pathogenic 188 rs794728005 5:171849428-171849429 5:172422424-172422425
7 SH3PXD2B NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) Deletion Pathogenic/Likely pathogenic 189 rs794728006 5:171777410-171777410 5:172350406-172350406
8 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3363T>C SNV Uncertain significance 352744 rs530641139 5:171762010-171762010 5:172335006-172335006
9 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1554G>A (p.Glu518=) SNV Uncertain significance 352809 rs886060421 5:171766555-171766555 5:172339551-172339551
10 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4328C>T SNV Uncertain significance 352735 rs572423054 5:171761045-171761045 5:172334041-172334041
11 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2309A>T SNV Uncertain significance 352761 rs886060414 5:171763064-171763064 5:172336060-172336060
12 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1956G>A (p.Thr652=) SNV Uncertain significance 352806 rs374735849 5:171766153-171766153 5:172339149-172339149
13 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4828dup Duplication Uncertain significance 352724 rs35951290 5:171760544-171760545 5:172333540-172333541
14 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*707C>T SNV Uncertain significance 352787 rs7705886 5:171764666-171764666 5:172337662-172337662
15 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1246G>A SNV Uncertain significance 352776 rs776059475 5:171764127-171764127 5:172337123-172337123
16 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4561G>A SNV Uncertain significance 352733 rs755005384 5:171760812-171760812 5:172333808-172333808
17 SH3PXD2B NM_001017995.3(SH3PXD2B):c.-40C>T SNV Uncertain significance 352830 rs766273502 5:171881396-171881396 5:172454392-172454392
18 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*636G>T SNV Uncertain significance 352790 rs564486072 5:171764737-171764737 5:172337733-172337733
19 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4736A>G SNV Uncertain significance 352730 rs527408109 5:171760637-171760637 5:172333633-172333633
20 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*589C>T SNV Uncertain significance 352793 rs886060419 5:171764784-171764784 5:172337780-172337780
21 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1126A>G (p.Ile376Val) SNV Uncertain significance 352815 rs886060423 5:171773202-171773202 5:172346198-172346198
22 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1326C>A (p.His442Gln) SNV Uncertain significance 352812 rs201324424 5:171766783-171766783 5:172339779-172339779
23 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1346G>A SNV Uncertain significance 352773 rs886060415 5:171764027-171764027 5:172337023-172337023
24 SH3PXD2B NM_001017995.3(SH3PXD2B):c.885G>A (p.Pro295=) SNV Uncertain significance 352819 rs145767631 5:171777494-171777494 5:172350490-172350490
25 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2438A>G SNV Uncertain significance 352760 rs760267846 5:171762935-171762935 5:172335931-172335931
26 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2066G>T SNV Uncertain significance 352763 rs761912938 5:171763307-171763307 5:172336303-172336303
27 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2544C>T (p.Asp848=) SNV Uncertain significance 352800 rs149498667 5:171765565-171765565 5:172338561-172338561
28 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3935C>T SNV Uncertain significance 352740 rs886060409 5:171761438-171761438 5:172334434-172334434
29 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3365A>G SNV Uncertain significance 352743 rs766100701 5:171762008-171762008 5:172335004-172335004
30 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2395C>T (p.Leu799Phe) SNV Uncertain significance 352802 rs562915075 5:171765714-171765714 5:172338710-172338710
31 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4665_*4668del Deletion Uncertain significance 352732 rs550289556 5:171760705-171760708 5:172333701-172333704
32 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1472G>A (p.Ser491Asn) SNV Uncertain significance 352811 rs886060422 5:171766637-171766637 5:172339633-172339633
33 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1607A>G SNV Uncertain significance 352769 rs537907753 5:171763766-171763766 5:172336762-172336762
34 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1188+13G>A SNV Uncertain significance 352814 rs141265263 5:171773127-171773127 5:172346123-172346123
35 SH3PXD2B NM_001017995.3(SH3PXD2B):c.450C>T (p.Asp150=) SNV Uncertain significance 352824 rs886060425 5:171789851-171789851 5:172362847-172362847
36 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1429C>T SNV Uncertain significance 352772 rs189080320 5:171763944-171763944 5:172336940-172336940
37 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2956G>A SNV Uncertain significance 352752 rs886060413 5:171762417-171762417 5:172335413-172335413
38 SH3PXD2B NM_001017995.3(SH3PXD2B):c.66C>T (p.Asn22=) SNV Uncertain significance 352829 rs762908120 5:171881291-171881291 5:172454287-172454287
39 SH3PXD2B NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser) SNV Uncertain significance 352817 rs138316493 5:171777382-171777382 5:172350378-172350378
40 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*323C>T SNV Uncertain significance 352795 rs886060420 5:171765050-171765050 5:172338046-172338046
41 SH3PXD2B NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=) SNV Uncertain significance 352818 rs142552959 5:171777383-171777383 5:172350379-172350379
42 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=) SNV Uncertain significance 352804 rs370525113 5:171765985-171765985 5:172338981-172338981
43 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2543A>G SNV Uncertain significance 352759 rs545661827 5:171762830-171762830 5:172335826-172335826
44 SH3PXD2B NM_001017995.3(SH3PXD2B):c.667+14C>A SNV Uncertain significance 352821 rs886060424 5:171785763-171785763 5:172358759-172358759
45 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1125G>A SNV Uncertain significance 352779 rs886060416 5:171764248-171764248 5:172337244-172337244
46 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3621G>A SNV Uncertain significance 352742 rs886060410 5:171761752-171761752 5:172334748-172334748
47 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*861C>T SNV Uncertain significance 352782 rs886060417 5:171764512-171764512 5:172337508-172337508
48 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4283G>A SNV Uncertain significance 352736 rs181895676 5:171761090-171761090 5:172334086-172334086
49 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2456G>A (p.Arg819Gln) SNV Uncertain significance 287530 rs200899339 5:171765653-171765653 5:172338649-172338649
50 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*636G>A SNV Uncertain significance 352791 rs564486072 5:171764737-171764737 5:172337733-172337733

UniProtKB/Swiss-Prot genetic disease variations for Frank-Ter Haar Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SH3PXD2B p.Arg43Trp VAR_063764 rs267607046

Expression for Frank-Ter Haar Syndrome

Search GEO for disease gene expression data for Frank-Ter Haar Syndrome.

Pathways for Frank-Ter Haar Syndrome

Pathways related to Frank-Ter Haar Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 WASL SRC NCK2 CTTN
2
Show member pathways
12.07 SRC NCK2 EGF
3
Show member pathways
12.03 WASL SRC NCK2 CTTN
4 12 SRC NCK2 CTTN
5 11.94 SRC MMP14 EGF
6 11.93 SRC NCK2 EGF
7
Show member pathways
11.85 WASL SRC EGF
8
Show member pathways
11.79 MTHFS MTHFD1 AMT
9 11.59 WASL SRC EGF
10 11.43 WASL SRC CTTN
11 11.13 SRC EGF
12 11.12 SRC EGF
13 11.1 SRC CTTN
14 11.06 WASL SRC MMP14
15 11 SRC NCK2
16 10.97 WASL NCK2
17 10.82 WASL NCK2
18 10.73 WASL SRC CTTN
19 10.66 SRC CTTN
20 10.2 WASL SRC EGF
21 9.96 MTHFD1 HAL

GO Terms for Frank-Ter Haar Syndrome

Cellular components related to Frank-Ter Haar Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.13 WASL SRC CTTN
2 podosome GO:0002102 8.92 SRC SH3PXD2B SH3PXD2A CTTN

Biological processes related to Frank-Ter Haar Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.58 WASL EGF CTTN
2 ERBB2 signaling pathway GO:0038128 9.51 SRC EGF
3 focal adhesion assembly GO:0048041 9.49 SRC CTTN
4 branching morphogenesis of an epithelial tube GO:0048754 9.48 MMP14 EGF
5 superoxide metabolic process GO:0006801 9.46 SH3PXD2B SH3PXD2A
6 folic acid metabolic process GO:0046655 9.43 MTHFS MTHFD1
7 negative regulation of focal adhesion assembly GO:0051895 9.37 SRC MMP14
8 ephrin receptor signaling pathway GO:0048013 9.33 WASL SRC NCK2
9 positive regulation of protein processing GO:0010954 9.32 SRC MMP14
10 tetrahydrofolate interconversion GO:0035999 9.26 MTHFS MTHFD1
11 signal complex assembly GO:0007172 8.96 SRC NCK2
12 epidermal growth factor receptor signaling pathway GO:0007173 8.8 SRC NCK2 EGF

Molecular functions related to Frank-Ter Haar Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4-phosphate binding GO:0070273 9.16 SH3PXD2B SH3PXD2A
2 phosphatidylinositol-5-phosphate binding GO:0010314 8.96 SH3PXD2B SH3PXD2A
3 superoxide-generating NADPH oxidase activator activity GO:0016176 8.62 SH3PXD2B SH3PXD2A

Sources for Frank-Ter Haar 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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