FTHS
MCID: FRN039
MIFTS: 54

Frank-Ter Haar Syndrome (FTHS)

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

Aliases & Classifications for Frank-Ter Haar Syndrome

MalaCards integrated aliases for Frank-Ter Haar Syndrome:

Name: Frank-Ter Haar Syndrome 56 12 58 73 36 29 13 6 15 39
Ter Haar Syndrome 56 12 52 58 73 43 71
Borrone Dermatocardioskeletal Syndrome 56 12 73
Fths 56 12 73
Megalocornea, Multiple Skeletal Anomalies, and Developmental Delay 12 52
Autosomal Recessive Melnick-Needles Syndrome 12 73
Melnick-Needles Syndrome, Autosomal Recessive, Formerly 56
Borrone Di Rocco Crovato Syndrome 71
Frank Ter Haar Syndrome 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 : 56 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)

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 Development HGF signaling pathway and Cell junction organization. Affiliated tissues include eye, bone and heart, 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.

NIH Rare Diseases : 52 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

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 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
9 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
10 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
11 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
12 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
13 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
14 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
15 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
16 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
17 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
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 hip dysplasia 31 HP:0001385
37 bowing of the long bones 31 HP:0006487
38 dental malocclusion 31 HP:0000689
39 prominent forehead 31 HP:0011220
40 full cheeks 31 HP:0000293
41 metatarsus adductus 31 HP:0001840
42 osteopenia 31 HP:0000938
43 osteoporosis 31 HP:0000939
44 growth delay 31 HP:0001510
45 high palate 31 HP:0000218
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:

56
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

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

Skeletal Pelvis:
hip dysplasia
decreased acetabular angle

Head And Neck Face:
full cheeks
micrognathia
coarse face

Skeletal:
osteopenia
osteoporosis

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

MGI Mouse Phenotypes related to Frank-Ter Haar Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 CTTN EGF MMP14 MTHFD1 MTHFS NCK1
2 embryo MP:0005380 9.8 CTTN MMP14 MTHFD1 NCK1 NCK2 SH3PXD2A
3 nervous system MP:0003631 9.61 CANT1 MMP14 MTHFD1 NCK1 NCK2 PRODH
4 vision/eye MP:0005391 9.23 CANT1 EGF MMP14 MTHFS NCK1 SH3PXD2A

Drugs & Therapeutics for Frank-Ter Haar Syndrome

Search Clinical Trials , 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, Bone, Heart, Skin

Publications for Frank-Ter Haar Syndrome

Articles related to Frank-Ter Haar Syndrome:

(show all 35)
# Title Authors PMID Year
1
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. 61 56 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. 61 56 6
20137777 2010
3
Further delineation of Frank-ter Haar syndrome. 56 6 61
15523657 2004
4
New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers. 6 56
8484415 1993
5
Melnick-Needles syndrome: indication for an autosomal recessive form. 6 56
7158646 1982
6
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. 61 56
21282566 2011
7
Siblings with glaucoma, mental retardation and short stature. 56 61
14564159 2003
8
Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome. 56 61
9188664 1997
9
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. 61 56
7778598 1995
10
Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome. 56
17480005 2007
11
Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. 56
9375925 1997
12
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 56
8723560 1996
13
Bowen syndrome: congenital glaucoma, flexion contracture of fingers and facial dysmorphism without peroxisomal abnormalities. 56
1537359 1992
14
Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? 56
4805907 1973
15
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum. 61
31978614 2020
16
A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma. 61
31809395 2020
17
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling. 61
31218820 2019
18
Significance of the Tks4 scaffold protein in bone tissue homeostasis. 61
30962481 2019
19
EGF Regulates the Interaction of Tks4 with Src through Its SH2 and SH3 Domains. 61
29928795 2018
20
Anaesthesia and orphan diseases: difficult tracheal intubation in a child with Frank-ter Haar syndrome. 61
29870476 2018
21
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. 61
29100834 2017
22
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
23
The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages. 61
27711054 2016
24
Frank-ter Haar syndrome--additional findings? 61
26582053 2016
25
Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes. 61
26183326 2015
26
Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome. 61
23709337 2014
27
Common dental features and craniofacial development of three siblings with Ter Haar syndrome. 61
24085649 2014
28
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. 61
23140272 2012
29
Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration. 61
22829589 2012
30
Frank-Ter Haar syndrome in a newborn. 61
22037860 2012
31
Frank-Ter Haar Syndrome. 61
21453629 2011
32
Frank-ter Haar syndrome with unusual clinical features. 61
19303467 2009
33
Mitral valve repair in a patient with Ter Haar Syndrome. 61
16948766 2006
34
[Ter Haar syndrome]. 61
11528983 2001
35
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 210) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3PXD2B NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter)duplication Pathogenic 188 rs794728005 5:171849428-171849429 5:172422424-172422425
2 SH3PXD2B NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)SNV Pathogenic 190 rs267607046 5:171849449-171849449 5:172422445-172422445
3 SH3PXD2B NM_001017995.3(SH3PXD2B):c.76-2A>CSNV Pathogenic 191 rs775217258 5:171849502-171849502 5:172422498-172422498
4 SH3PXD2B NM_001017995.3(SH3PXD2B):c.401+1G>ASNV Pathogenic 55933 rs367543284 5:171809039-171809039 5:172382035-172382035
5 SH3PXD2B NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592deldeletion Pathogenic 217131 5:171758785-171771367 5:172331781-172344363
6 SH3PXD2B NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs)deletion Pathogenic/Likely pathogenic 189 rs794728006 5:171777410-171777410 5:172350406-172350406
7 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=)SNV Conflicting interpretations of pathogenicity 289064 rs144228973 5:171766507-171766507 5:172339503-172339503
8 SH3PXD2B NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser)SNV Conflicting interpretations of pathogenicity 352817 rs138316493 5:171777382-171777382 5:172350378-172350378
9 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1063-7G>TSNV Conflicting interpretations of pathogenicity 499846 rs186443822 5:171773272-171773272 5:172346268-172346268
10 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=)SNV Conflicting interpretations of pathogenicity 727112 5:171766597-171766597 5:172339593-172339593
11 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe)SNV Uncertain significance 800857 5:171766431-171766431 5:172339427-172339427
12 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4773G>CSNV Uncertain significance 907015 5:171760600-171760600 5:172333596-172333596
13 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4489C>TSNV Uncertain significance 904767 5:171760884-171760884 5:172333880-172333880
14 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4266G>TSNV Uncertain significance 904768 5:171761107-171761107 5:172334103-172334103
15 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4102G>TSNV Uncertain significance 904769 5:171761271-171761271 5:172334267-172334267
16 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu)SNV Uncertain significance 501675 rs766153965 5:171765920-171765920 5:172338916-172338916
17 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln)SNV Uncertain significance 547887 rs144424788 5:171766706-171766706 5:172339702-172339702
18 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3595G>ASNV Uncertain significance 906065 5:171761778-171761778 5:172334774-172334774
19 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3411G>ASNV Uncertain significance 906066 5:171761962-171761962 5:172334958-172334958
20 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3388C>TSNV Uncertain significance 906067 5:171761985-171761985 5:172334981-172334981
21 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3358G>ASNV Uncertain significance 906068 5:171762015-171762015 5:172335011-172335011
22 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3327A>TSNV Uncertain significance 906069 5:171762046-171762046 5:172335042-172335042
23 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3227C>GSNV Uncertain significance 907071 5:171762146-171762146 5:172335142-172335142
24 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3226C>ASNV Uncertain significance 907072 5:171762147-171762147 5:172335143-172335143
25 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3191C>TSNV Uncertain significance 907073 5:171762182-171762182 5:172335178-172335178
26 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3858G>CSNV Uncertain significance 905556 5:171761515-171761515 5:172334511-172334511
27 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3714C>TSNV Uncertain significance 905557 5:171761659-171761659 5:172334655-172334655
28 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3643A>TSNV Uncertain significance 905558 5:171761730-171761730 5:172334726-172334726
29 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2826G>ASNV Uncertain significance 903701 5:171762547-171762547 5:172335543-172335543
30 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2825C>TSNV Uncertain significance 905616 5:171762548-171762548 5:172335544-172335544
31 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2740A>GSNV Uncertain significance 905617 5:171762633-171762633 5:172335629-172335629
32 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2684G>ASNV Uncertain significance 905618 5:171762689-171762689 5:172335685-172335685
33 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2469C>TSNV Uncertain significance 906134 5:171762904-171762904 5:172335900-172335900
34 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2449G>TSNV Uncertain significance 906135 5:171762924-171762924 5:172335920-172335920
35 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2355G>CSNV Uncertain significance 907126 5:171763018-171763018 5:172336014-172336014
36 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2275G>CSNV Uncertain significance 907127 5:171763098-171763098 5:172336094-172336094
37 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2262G>ASNV Uncertain significance 907128 5:171763111-171763111 5:172336107-172336107
38 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2203T>CSNV Uncertain significance 907129 5:171763170-171763170 5:172336166-172336166
39 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2031C>TSNV Uncertain significance 903775 5:171763342-171763342 5:172336338-172336338
40 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1928A>GSNV Uncertain significance 903776 5:171763445-171763445 5:172336441-172336441
41 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1913C>TSNV Uncertain significance 903777 5:171763460-171763460 5:172336456-172336456
42 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1862G>TSNV Uncertain significance 903778 5:171763511-171763511 5:172336507-172336507
43 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1862G>ASNV Uncertain significance 903779 5:171763511-171763511 5:172336507-172336507
44 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1751T>CSNV Uncertain significance 903780 5:171763622-171763622 5:172336618-172336618
45 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1692G>TSNV Uncertain significance 905682 5:171763681-171763681 5:172336677-172336677
46 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1633C>TSNV Uncertain significance 905683 5:171763740-171763740 5:172336736-172336736
47 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1379T>CSNV Uncertain significance 906200 5:171763994-171763994 5:172336990-172336990
48 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1199T>CSNV Uncertain significance 907193 5:171764174-171764174 5:172337170-172337170
49 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*902G>ASNV Uncertain significance 907194 5:171764471-171764471 5:172337467-172337467
50 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*877G>ASNV Uncertain significance 907195 5:171764496-171764496 5:172337492-172337492

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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 WASL SRC NCK2 NCK1
2
Show member pathways
12.54 WASL SRC NCK2 NCK1
3
Show member pathways
12.45 SRC NCK2 NCK1 EGF
4
Show member pathways
12.42 WASL SRC NCK2 NCK1
5
Show member pathways
12.24 WASL SRC NCK1 EGF
6 12.22 WASL SRC FNBP1 CTTN
7
Show member pathways
12.21 WASL SRC NCK2 NCK1
8
Show member pathways
12.18 WASL FNBP1 EGF CTTN
9 12.08 SRC NCK2 NCK1
10
Show member pathways
12.06 SRC NCK2 NCK1 EGF
11 12.03 SRC MMP14 EGF
12
Show member pathways
11.98 WASL SRC EGF
13 11.97 SRC NCK1 EGF
14 11.97 SRC NCK2 NCK1 EGF
15 11.95 SRC NCK2 NCK1
16 11.83 WASL NCK2 NCK1
17
Show member pathways
11.76 WASL SRC NCK2 NCK1 CTTN
18 11.75 WASL SRC EGF
19
Show member pathways
11.61 WASL SRC NCK1
20 11.59 WASL SRC CTTN
21
Show member pathways
11.46 SRC NCK1 EGF
22 11.4 WASL SRC MMP14
23 11.39 SRC NCK2 NCK1
24 11.3 WASL SRC NCK2 NCK1 CTTN
25 11.21 WASL SRC CTTN
26 11.08 SRC NCK1 EGF
27 11.07 SRC NCK2
28 10.91 WASL NCK2 NCK1
29 10.84 SRC CTTN
30 10.83 WASL SRC EGF
31 10.67 WASL NCK2 NCK1

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 cytosol GO:0005829 9.85 WASL SRC SH3PXD2A NCK2 NCK1 MTHFS
2 vesicle membrane GO:0012506 9.26 NCK2 NCK1
3 actin filament GO:0005884 9.13 WASL SRC CTTN
4 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 24)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.8 SRC NCK2 NCK1 MMP14
2 actin filament organization GO:0007015 9.76 WASL NCK2 NCK1
3 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.75 WASL SRC NCK1
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.65 SRC NCK2 NCK1
5 ERBB2 signaling pathway GO:0038128 9.62 SRC EGF
6 negative regulation of peptidyl-serine phosphorylation GO:0033137 9.61 NCK2 NCK1
7 branching morphogenesis of an epithelial tube GO:0048754 9.61 MMP14 EGF
8 positive regulation of actin filament polymerization GO:0030838 9.61 NCK2 NCK1 CTTN
9 focal adhesion assembly GO:0048041 9.6 SRC CTTN
10 superoxide metabolic process GO:0006801 9.59 SH3PXD2B SH3PXD2A
11 epidermal growth factor receptor signaling pathway GO:0007173 9.58 SRC NCK2 EGF
12 folic acid metabolic process GO:0046655 9.57 MTHFS MTHFD1
13 negative regulation of focal adhesion assembly GO:0051895 9.56 SRC MMP14
14 positive regulation of protein processing GO:0010954 9.55 SRC MMP14
15 positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902237 9.54 NCK2 NCK1
16 tetrahydrofolate interconversion GO:0035999 9.52 MTHFS MTHFD1
17 substrate-dependent cell migration, cell extension GO:0006930 9.51 NCK1 CTTN
18 negative regulation of PERK-mediated unfolded protein response GO:1903898 9.46 NCK2 NCK1
19 membrane organization GO:0061024 9.46 WASL FNBP1 EGF CTTN
20 negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990441 9.37 NCK2 NCK1
21 negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation GO:1903912 9.32 NCK2 NCK1
22 positive regulation of translation in response to endoplasmic reticulum stress GO:0036493 9.26 NCK2 NCK1
23 ephrin receptor signaling pathway GO:0048013 9.26 WASL SRC NCK2 NCK1
24 signal complex assembly GO:0007172 8.8 SRC NCK2 NCK1

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 9.4 SH3PXD2B SH3PXD2A
2 ephrin receptor binding GO:0046875 9.37 SRC NCK1
3 receptor signaling complex scaffold activity GO:0030159 9.32 NCK2 NCK1
4 phosphatidylinositol-5-phosphate binding GO:0010314 9.26 SH3PXD2B SH3PXD2A
5 cytoskeletal adaptor activity GO:0008093 9.16 NCK2 NCK1
6 superoxide-generating NADPH oxidase activator activity GO:0016176 8.96 SH3PXD2B SH3PXD2A
7 SH3/SH2 adaptor activity GO:0005070 8.8 SRC NCK2 NCK1

Sources for Frank-Ter Haar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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