FTHS
MCID: FRN039
MIFTS: 41

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

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). Affiliated tissues include bone, eye and heart, and related phenotypes are hypertelorism and coarse facial features

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

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 borrone di rocco crovato syndrome 11.6
2 megalocornea 10.9
3 hypertelorism 10.8
4 autosomal recessive disease 10.8
5 intraocular pressure quantitative trait locus 10.6
6 heart septal defect 10.6
7 atrial heart septal defect 10.6
8 intracranial hypertension 10.6
9 hajdu-cheney syndrome 10.5
10 melnick-needles syndrome 10.5
11 gallbladder disease 1 10.5
12 suppression amblyopia 10.5
13 amblyopia 10.5
14 ametropic amblyopia 10.5
15 corneal edema 10.5
16 synostosis 10.5
17 papilledema 10.5
18 craniosynostosis 10.5
19 papilloma 10.5
20 double outlet right ventricle 10.5
21 ocular hypertension 10.5
22 48,xyyy 10.5
23 ventricular septal defect 10.3
24 renal cell carcinoma, nonpapillary 10.2
25 kidney cancer 10.2
26 lung squamous cell carcinoma 10.2
27 clear cell renal cell carcinoma 10.2

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 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
6 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
8 acne 58 31 hallmark (90%) Very frequent (99-80%) HP:0001061
9 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
10 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
11 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
12 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
13 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
14 avascular necrosis 31 hallmark (90%) HP:0010885
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 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
22 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
23 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
24 genu recurvatum 58 31 frequent (33%) Frequent (79-30%) HP:0002816
25 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
26 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
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 low-set ears 31 HP:0000369
37 pectus excavatum 31 HP:0000767
38 high palate 31 HP:0000218
39 osteopenia 31 HP:0000938
40 dental malocclusion 31 HP:0000689
41 hip dysplasia 31 HP:0001385
42 bowing of the long bones 31 HP:0006487
43 aseptic necrosis 58 Very frequent (99-80%)
44 micrognathia 31 HP:0000347
45 osteoporosis 31 HP:0000939
46 prominent forehead 31 HP:0011220
47 full cheeks 31 HP:0000293
48 broad nasal tip 31 HP:0000455
49 short long bone 31 HP:0003026
50 wormian bones 31 HP:0002645

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
glaucoma
buphthalmos
downslanting palpebral fissures
edematous eyelids
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
broad clavicles

Skeletal Pelvis:
hip dysplasia
decreased acetabular angle

Head And Neck Head:
prominent forehead
flat occiput
large anterior fontanel

Skeletal Skull:
wormian bones
delayed fontanel closure

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

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 Ears:
low-set ears
simple ears
protruding ears
acne conglobata

Skeletal:
osteopenia
osteoporosis

Head And Neck Face:
micrognathia
full cheeks
coarse face

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

Skeletal Feet:
metatarsus adductus
talipes equinovarus

Skeletal Limbs:
cortical irregularity
metaphyseal flaring
shortened bowed long bones

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

Drugs & Therapeutics for Frank-Ter Haar Syndrome

Search Clinical Trials , NIH Clinical Center for Frank-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
Bone, Eye, Heart, Skin

Publications for Frank-Ter Haar Syndrome

Articles related to Frank-Ter Haar Syndrome:

(show all 34)
# Title Authors PMID Year
1
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. 61 6 56
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 6 56
20137777 2010
3
Further delineation of Frank-ter Haar syndrome. 6 56 61
15523657 2004
4
New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers. 56 6
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. 56 61
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 Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting with Congenital Glaucoma. 61
31809395 2019
16
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling. 61
31218820 2019
17
Significance of the Tks4 scaffold protein in bone tissue homeostasis. 61
30962481 2019
18
Anaesthesia and orphan diseases: difficult tracheal intubation in a child with Frank-ter Haar syndrome. 61
29870476 2018
19
EGF Regulates the Interaction of Tks4 with Src through Its SH2 and SH3 Domains. 61
29928795 2018
20
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. 61
29100834 2017
21
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
22
The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages. 61
27711054 2016
23
Frank-ter Haar syndrome--additional findings? 61
26582053 2016
24
Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes. 61
26183326 2015
25
Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome. 61
23709337 2014
26
Common dental features and craniofacial development of three siblings with Ter Haar syndrome. 61
24085649 2014
27
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. 61
23140272 2012
28
Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration. 61
22829589 2012
29
Frank-Ter Haar syndrome in a newborn. 61
22037860 2012
30
Frank-Ter Haar Syndrome. 61
21453629 2011
31
Frank-ter Haar syndrome with unusual clinical features. 61
19303467 2009
32
Mitral valve repair in a patient with Ter Haar Syndrome. 61
16948766 2006
33
[Ter Haar syndrome]. 61
11528983 2001
34
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 125) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3PXD2B NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)SNV Pathogenic 190 rs267607046 5:171849449-171849449 5:172422445-172422445
2 SH3PXD2B NM_001017995.3(SH3PXD2B):c.401+1G>ASNV Pathogenic 55933 rs367543284 5:171809039-171809039 5:172382035-172382035
3 SH3PXD2B NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592deldeletion Pathogenic 217131 5:171758785-171771367 5:172331781-172344363
4 SH3PXD2B NM_001017995.3(SH3PXD2B):c.76-2A>CSNV Pathogenic 191 rs775217258 5:171849502-171849502 5:172422498-172422498
5 SH3PXD2B NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter)duplication Pathogenic 188 rs794728005 5:171849429-171849429 5:172422425-172422425
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.2456G>A (p.Arg819Gln)SNV Uncertain significance 287530 rs200899339 5:171765653-171765653 5:172338649-172338649
8 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3935C>TSNV Uncertain significance 352740 rs886060409 5:171761438-171761438 5:172334434-172334434
9 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3363T>CSNV Uncertain significance 352744 rs530641139 5:171762010-171762010 5:172335006-172335006
10 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3359C>TSNV Uncertain significance 352745 rs886060411 5:171762014-171762014 5:172335010-172335010
11 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3202C>TSNV Uncertain significance 352748 rs180938966 5:171762171-171762171 5:172335167-172335167
12 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2676G>ASNV Uncertain significance 352757 rs553703806 5:171762697-171762697 5:172335693-172335693
13 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*707C>TSNV Uncertain significance 352787 rs7705886 5:171764666-171764666 5:172337662-172337662
14 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*636G>ASNV Uncertain significance 352791 rs564486072 5:171764737-171764737 5:172337733-172337733
15 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*589C>TSNV Uncertain significance 352793 rs886060419 5:171764784-171764784 5:172337780-172337780
16 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*571C>TSNV Uncertain significance 352794 rs150134055 5:171764802-171764802 5:172337798-172337798
17 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1607A>GSNV Uncertain significance 352769 rs537907753 5:171763766-171763766 5:172336762-172336762
18 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2395C>T (p.Leu799Phe)SNV Uncertain significance 352802 rs562915075 5:171765714-171765714 5:172338710-172338710
19 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met)SNV Uncertain significance 352803 rs141103005 5:171765882-171765882 5:172338878-172338878
20 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1188+13G>ASNV Uncertain significance 352814 rs141265263 5:171773127-171773127 5:172346123-172346123
21 SH3PXD2B NM_001017995.3(SH3PXD2B):c.450C>T (p.Asp150=)SNV Uncertain significance 352824 rs886060425 5:171789851-171789851 5:172362847-172362847
22 SH3PXD2B NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=)SNV Uncertain significance 352818 rs142552959 5:171777383-171777383 5:172350379-172350379
23 SH3PXD2B NM_001017995.3(SH3PXD2B):c.885G>A (p.Pro295=)SNV Uncertain significance 352819 rs145767631 5:171777494-171777494 5:172350490-172350490
24 SH3PXD2B NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys)SNV Uncertain significance 352825 rs368080609 5:171789871-171789871 5:172362867-172362867
25 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2991T>GSNV Uncertain significance 352751 rs886060412 5:171762382-171762382 5:172335378-172335378
26 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4828dupduplication Uncertain significance 352724 rs35951290 5:171760545-171760545 5:172333541-172333541
27 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4805G>ASNV Uncertain significance 352728 rs886060406 5:171760568-171760568 5:172333564-172333564
28 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4736A>GSNV Uncertain significance 352730 rs527408109 5:171760637-171760637 5:172333633-172333633
29 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*4079C>TSNV Uncertain significance 352737 rs886060408 5:171761294-171761294 5:172334290-172334290
30 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3365A>GSNV Uncertain significance 352743 rs766100701 5:171762008-171762008 5:172335004-172335004
31 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1472G>A (p.Ser491Asn)SNV Uncertain significance 352811 rs886060422 5:171766637-171766637 5:172339633-172339633
32 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1326C>A (p.His442Gln)SNV Uncertain significance 352812 rs201324424 5:171766783-171766783 5:172339779-172339779
33 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2783A>GSNV Uncertain significance 352756 rs114303017 5:171762590-171762590 5:172335586-172335586
34 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*1683T>CSNV Uncertain significance 352768 rs573097315 5:171763690-171763690 5:172336686-172336686
35 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*958G>ASNV Uncertain significance 352780 rs76230855 5:171764415-171764415 5:172337411-172337411
36 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*957C>TSNV Uncertain significance 352781 rs79360524 5:171764416-171764416 5:172337412-172337412
37 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*843G>ASNV Uncertain significance 352783 rs143482443 5:171764530-171764530 5:172337526-172337526
38 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*789T>ASNV Uncertain significance 352784 rs150961242 5:171764584-171764584 5:172337580-172337580
39 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*235T>CSNV Uncertain significance 352798 rs147011482 5:171765138-171765138 5:172338134-172338134
40 SH3PXD2B NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=)SNV Uncertain significance 352804 rs370525113 5:171765985-171765985 5:172338981-172338981
41 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1956G>A (p.Thr652=)SNV Uncertain significance 352806 rs374735849 5:171766153-171766153 5:172339149-172339149
42 SH3PXD2B NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=)SNV Uncertain significance 352808 rs73317800 5:171766471-171766471 5:172339467-172339467
43 SH3PXD2B NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser)SNV Uncertain significance 352817 rs138316493 5:171777382-171777382 5:172350378-172350378
44 SH3PXD2B NM_001017995.3(SH3PXD2B):c.667+14C>ASNV Uncertain significance 352821 rs886060424 5:171785763-171785763 5:172358759-172358759
45 SH3PXD2B NM_001017995.3(SH3PXD2B):c.76-4G>ASNV Uncertain significance 352828 rs144523953 5:171849504-171849504 5:172422500-172422500
46 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*3006C>TSNV Uncertain significance 352750 rs539299765 5:171762367-171762367 5:172335363-172335363
47 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2956G>ASNV Uncertain significance 352752 rs886060413 5:171762417-171762417 5:172335413-172335413
48 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2885A>TSNV Uncertain significance 352754 rs186204526 5:171762488-171762488 5:172335484-172335484
49 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2543A>GSNV Uncertain significance 352759 rs545661827 5:171762830-171762830 5:172335826-172335826
50 SH3PXD2B NM_001017995.3(SH3PXD2B):c.*2066G>TSNV Uncertain significance 352763 rs761912938 5:171763307-171763307 5:172336303-172336303

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

GO Terms for Frank-Ter Haar Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.62 SH3PXD2B EGF

Sources for Frank-Ter Haar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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