ICPPS
MCID: ISC020
MIFTS: 50

Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension (ICPPS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

MalaCards integrated aliases for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

Name: Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 57 11 73
Small Patella Syndrome 57 11 19 58 73 12 71 75
Ischiopatellar Dysplasia 57 11 19 58 75 73 43
Coxopodopatellar Syndrome 57 58 73 28 5
Scott-Taor Syndrome 57 11 19 58 73
Ischiocoxopodopatellar Syndrome 11 19 14 38
Sps 57 11 58 73
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 57 11 73
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 11 19
Patella Aplasia, Coxa Vara, Tarsal Synostosis 19 43
Coxo-Podo-Patellar Syndrome 11 19
Icpps 57 73
Coxopodipatellar Syndrome 11

Characteristics:


Inheritance:

Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension: Autosomal dominant 57
Coxopodopatellar Syndrome: Autosomal dominant 58

Prevelance:

Coxopodopatellar Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Coxopodopatellar Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111382
OMIM® 57 147891
SNOMED-CT 68 720752007
ICD10 via Orphanet 32 Q74.1
UMLS via Orphanet 72 C1840061 C1868581
Orphanet 58 ORPHA1509
MedGen 40 C1840061
UMLS 71 C1840061 C1868581

Summaries for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

GARD: 19 Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. Small patella syndrome is caused by a change (pathogenic variant) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays. Diagnosis of SPS can be confirmed with genetic testing.

MalaCards based summary: Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension, also known as small patella syndrome, is related to chromosome 17q23.1-q23.2 deletion syndrome and heritable pulmonary arterial hypertension. An important gene associated with Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension is TBX4 (T-Box Transcription Factor 4), and among its related pathways/superpathways are Signaling by BMP and Heart development. Affiliated tissues include bone and lung, and related phenotypes are aplasia/hypoplasia of the patella and abnormal epiphysis morphology

OMIM®: 57 Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). (147891) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.

Disease Ontology: 11 A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has material basis in heterozygous mutation in TBX4 on chromosome 17q23.2.

Orphanet: 58 Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.

Wikipedia: 75 Ischiopatellar dysplasia is a rare autosomal dominant disorder characterized by a hypoplasia of the... more...

Related Diseases for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Diseases related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 chromosome 17q23.1-q23.2 deletion syndrome 29.9 TBX4 TBX2 PITX1
2 heritable pulmonary arterial hypertension 29.6 TBX4 KCNK3 BMPR2 ACVRL1
3 pulmonary hypertension, primary, 1 29.2 TBX4 KCNK3 GDF2 BMPR2 ATP13A3 ACVRL1
4 stiff-person syndrome 11.8
5 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 11.5
6 sessile serrated polyposis cancer syndrome 11.1
7 progressive encephalomyelitis with rigidity and myoclonus 11.0
8 coxa vara 10.5
9 hyperphenylalaninemia, bh4-deficient, a 10.2
10 anxiety 10.2
11 social phobia 10.2
12 post-traumatic stress disorder 10.2
13 pulmonary arterial hypertension associated with congenital heart disease 10.2 TBX4 BMPR2
14 pulmonary hypoplasia, familial primary 10.2 TBX4 FGF10
15 pulmonary hypoplasia, primary 10.2 TBX4 FGF10
16 nail-patella syndrome 10.2
17 osteochondrodysplasia 10.2
18 hypoplastic right heart syndrome 10.2 TBX5 TBX2
19 neonatal respiratory failure 10.1 TBX4 FGF10
20 visual epilepsy 10.1
21 childhood absence epilepsy 10.1
22 acute stress disorder 10.1
23 pulmonary valve insufficiency 10.1 KCNK3 BMPR2
24 exudative vitreoretinopathy 7 10.1 TBX5 TBX4 FGF10
25 tracheal stenosis 10.1 TBX5 TBX4 FGF10
26 tracheomalacia 10.1 TBX5 TBX4 FGF10
27 aplasia of lacrimal and salivary glands 10.1 TBX4 FGF10
28 ulnar-mammary syndrome 10.1 TBX5 TBX4 TBX2
29 patella aplasia-hypoplasia 10.1
30 tracheal disease 10.1 TBX4 FGF10
31 hypoplastic left heart syndrome 10.1 TBX5 TBX4 TBX2
32 glass syndrome 10.1
33 common cold 10.1
34 patent ductus arteriosus 1 10.1 TBX5 TBX4 BMPR2
35 double outlet right ventricle 10.0 TBX5 TBX2 FGF10
36 vertical talus, congenital 10.0 TBX4 PITX1
37 pulmonary valve stenosis 10.0 TBX5 TBX2
38 atrial heart septal defect 10.0 TBX5 TBX2 BMPR2
39 charge syndrome 10.0
40 aging 10.0
41 aceruloplasminemia 10.0
42 panic disorder 10.0
43 basal ganglia disease 10.0
44 myoclonus 10.0
45 lacrimoauriculodentodigital syndrome 10.0 TBX5 TBX4 TBX2 FGF10
46 holt-oram syndrome 10.0 TBX5 TBX4 TBX2 FGF10
47 diaphragmatic hernia, congenital 9.9 TBX5 TBX4 FGF10 BMPR2
48 campomelic dysplasia 9.9
49 hypertension, essential 9.9
50 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9

Graphical network of the top 20 diseases related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:



Diseases related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension

Symptoms & Phenotypes for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Human phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the patella 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006498
2 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
3 hip dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001385
4 high palate 30 HP:0000218
5 pes planus 30 HP:0001763
6 short stature 30 HP:0004322
7 cleft palate 30 HP:0000175
8 micrognathia 30 HP:0000347
9 sandal gap 30 HP:0001852
10 patellar dislocation 30 HP:0002999
11 abnormality of epiphysis morphology 58 Very frequent (99-80%)
12 abnormality of pelvic girdle bone morphology 58 Frequent (79-30%)
13 coxa vara 30 HP:0002812
14 patellar aplasia 30 HP:0006443
15 abnormality of the knee 58 Very frequent (99-80%)
16 patellar hypoplasia 30 HP:0003065
17 short femur 30 HP:0003097
18 flat capital femoral epiphysis 30 HP:0003370
19 wide capital femoral epiphyses 30 HP:0008784
20 talocalcaneal synostosis 30 HP:0005682
21 hypoplasia of the lesser trochanter 30 HP:0008801

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Feet:
pes planus
sandal gap
tarsal synostosis
talocalcaneal synostosis
brachymetatarsia
more
Head And Neck Mouth:
cleft palate
high-arched palate

Skeletal Limbs:
patellar dislocation
aplastic patellae
hypoplastic patellae

Skin Nails Hair Nails:
normal nails

Growth Height:
short stature

Head And Neck Face:
micrognathia

Skeletal Pelvis:
coxa vara
lesser trochanter hypoplasia
flat, wide proximal femoral epiphyses
absent/delayed/irregular ischiopubic junction ossification
infra-acetabular axe-cut notches
more
Cardiovascular Vascular:
pulmonary hypertension (in some patients)

Clinical features from OMIM®:

147891 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.68 ACVRL1 TBX4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.68 ACVRL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.68 ACVRL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.68 ACVRL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.68 TBX4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.68 BMPR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.68 ACVRL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.68 BMPR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.68 BMPR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.68 BMPR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 ACVRL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.68 ACVRL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.68 ACVRL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 ACVRL1 TBX4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.68 BMPR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.68 ACVRL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 ACVRL1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.68 BMPR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.68 ACVRL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 ACVRL1 BMPR2

MGI Mouse Phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.7 ACVRL1 BMPR2 FGF10 KCNK3 TBX2 TBX4
2 embryo MP:0005380 9.5 ACVRL1 BMPR2 FGF10 PITX1 TBX2 TBX4
3 cardiovascular system MP:0005385 9.32 ACVRL1 ATP13A3 BMPR2 FGF10 GDF2 KCNK3

Drugs & Therapeutics for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Search Clinical Trials, NIH Clinical Center for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension

Cochrane evidence based reviews: ischiopatellar dysplasia

Genetic Tests for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Genetic tests related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

# Genetic test Affiliating Genes
1 Coxopodopatellar Syndrome 28 TBX4

Anatomical Context for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Organs/tissues related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

MalaCards : Bone, Lung

Publications for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Articles related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

(show all 42)
# Title Authors PMID Year
1
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. 62 57 5
31761294 2019
2
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 62 57 5
23592887 2013
3
Mutations in the human TBX4 gene cause small patella syndrome. 62 57 5
15106123 2004
4
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. 62 57 5
11303519 2001
5
A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4. 57 5
31965066 2020
6
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. 57 5
31151956 2019
7
Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man. 62 5
34557690 2021
8
Human syndromes with congenital patellar anomalies and the underlying gene defects. 62 57
16143015 2005
9
Small patella syndrome. 62 57
7573128 1995
10
[The small patella syndrome. A combination of knee and pelvic dysplasia]. 62 57
3381566 1988
11
[The coxopodopatellar syndrome]. 62 57
4045792 1985
12
[Ischiopatellar dysplasia (Scott and Taor's syndrome of the small patella)]. 62 57
6212344 1981
13
The "small patella" syndrome. 62 57
438269 1979
14
Congenital coxa vara, patella aplasia and tarsal synostosis: a new inherited syndrome. 62 57
5512529 1970
15
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. 5
32348326 2020
16
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. 5
31727138 2019
17
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. 5
29631995 2018
18
Genetic analyses in a cohort of children with pulmonary hypertension. 57
27587546 2016
19
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant. 62
35075769 2022
20
Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome. 62
35216193 2022
21
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability. 62
32598510 2020
22
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation. 62
32079640 2020
23
Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders. 62
30722102 2019
24
Genetics of patella hypoplasia/agenesis. 62
29322497 2018
25
A Novel Heterozygous Mutation in the T-box Protein 4 Gene in an Adult Case of Small Patella Syndrome. 62
29854702 2018
26
Scott-Taor syndrome. 62
28196777 2017
27
Small patella syndrome: New clinical and molecular insights into a consistent phenotype. 62
29120062 2017
28
Small patella syndrome. 62
27344077 2017
29
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. 62
27374786 2016
30
Magnetic Resonance Imaging Findings in Small Patella Syndrome. 62
26955616 2016
31
Tbx4 interacts with the short stature homeobox gene Shox2 in limb development. 62
24347445 2014
32
Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. 62
24200447 2013
33
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. 62
24038782 2013
34
Divergent transcriptional activities determine limb identity. 62
20975709 2010
35
Isolated loss of inferior pubic ramus: a case report. 62
18549487 2008
36
Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia. 62
17916489 2007
37
[Small patella syndrome]. 62
11528953 2001
38
Waardenburg syndrome type I and small patella syndrome in the same patient. 62
10618897 1999
39
Effects of finasteride in patients with inflammatory chronic pelvic pain syndrome: a double-blind, placebo-controlled, pilot study. 62
10096374 1999
40
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. 62
9133358 1997
41
The 'small-patella' syndrome. Hereditary osteodysplasia of the knee, pelvis and foot. 62
8898129 1996
42
Surveillance and control of epidemic keratoconjunctivitis. 62
8981712 1996

Variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

ClinVar genetic disease variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

5 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX4 NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) SNV Pathogenic
7855 rs28938474 GRCh37: 17:59557282-59557282
GRCh38: 17:61479921-61479921
2 TBX4 NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) SNV Pathogenic
7856 rs104894648 GRCh37: 17:59534035-59534035
GRCh38: 17:61456674-61456674
3 TBX4 NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) SNV Pathogenic
7857 rs28936696 GRCh37: 17:59560831-59560831
GRCh38: 17:61483470-61483470
4 TBX4 NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) SNV Pathogenic
805945 rs1603251001 GRCh37: 17:59543237-59543237
GRCh38: 17:61465876-61465876
5 TBX4 NM_001321120.2(TBX4):c.281+1G>T SNV Pathogenic
807511 rs1555881112 GRCh37: 17:59534993-59534993
GRCh38: 17:61457632-61457632
6 TBX4 NM_001321120.2(TBX4):c.355dup (p.Ile119fs) DUP Pathogenic
633610 rs1569036773 GRCh37: 17:59543252-59543253
GRCh38: 17:61465891-61465892
7 TBX4 NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) SNV Pathogenic
1341404 GRCh37: 17:59557320-59557320
GRCh38: 17:61479959-61479959
8 TBX4 NM_001321120.2(TBX4):c.251del (p.Gly84fs) DEL Pathogenic
800703 rs1603248606 GRCh37: 17:59534960-59534960
GRCh38: 17:61457599-61457599
9 TBX4 NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) SNV Pathogenic
Pathogenic
800704 rs1603256040 GRCh37: 17:59560293-59560293
GRCh38: 17:61482932-61482932
10 TBX4 NM_001321120.2(TBX4):c.792-1G>C SNV Pathogenic
800705 rs1603255224 GRCh37: 17:59557450-59557450
GRCh38: 17:61480089-61480089
11 TBX4 NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) SNV Pathogenic
279597 rs886041115 GRCh37: 17:59555995-59555995
GRCh38: 17:61478634-61478634
12 TBX4 NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) SNV Pathogenic
638159 rs1603251494 GRCh37: 17:59544871-59544871
GRCh38: 17:61467510-61467510
13 TBX4 NM_001321120.2(TBX4):c.1021+1G>A SNV Likely Pathogenic
1327321 GRCh37: 17:59557681-59557681
GRCh38: 17:61480320-61480320
14 TBX4 NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) SNV Likely Pathogenic
1341438 GRCh37: 17:59543214-59543214
GRCh38: 17:61465853-61465853
15 TBX4 NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) DUP Likely Pathogenic
Likely Pathogenic
Not Provided
812880 rs754897911 GRCh37: 17:59560344-59560345
GRCh38: 17:61482983-61482984
16 TBX4 NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) DEL Likely Pathogenic
548695 rs1555882291 GRCh37: 17:59545006-59545015
GRCh38: 17:61467645-61467654
17 TBX4 NM_001321120.2(TBX4):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
1685462 GRCh37: 17:59533854-59533854
GRCh38: 17:61456493-61456493
18 TBX4 NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter) SNV Likely Pathogenic
982403 rs2060654742 GRCh37: 17:59557638-59557638
GRCh38: 17:61480277-61480277
19 TBX4 NM_001321120.2(TBX4):c.401+3A>T SNV Uncertain Significance
1188835 GRCh37: 17:59543302-59543302
GRCh38: 17:61465941-61465941
20 TBX4 NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) SNV Uncertain Significance
800781 rs1603251548 GRCh37: 17:59544993-59544993
GRCh38: 17:61467632-61467632
21 TBX4 NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu) SNV Uncertain Significance
324245 rs886053187 GRCh37: 17:59533961-59533961
GRCh38: 17:61456600-61456600
22 TBX4 NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr) SNV Uncertain Significance
890662 rs752732593 GRCh37: 17:59556096-59556096
GRCh38: 17:61478735-61478735
23 TBX4 NM_001321120.2(TBX4):c.*409G>A SNV Uncertain Significance
890715 rs2060686079 GRCh37: 17:59561286-59561286
GRCh38: 17:61483925-61483925
24 TBX4 NM_001321120.2(TBX4):c.*428G>A SNV Uncertain Significance
890716 rs892751603 GRCh37: 17:59561305-59561305
GRCh38: 17:61483944-61483944
25 TBX4 NM_001321120.2(TBX4):c.*607G>T SNV Uncertain Significance
890717 rs1466455515 GRCh37: 17:59561484-59561484
GRCh38: 17:61484123-61484123
26 TBX4 NM_001321120.2(TBX4):c.791+11G>T SNV Uncertain Significance
891901 rs368363345 GRCh37: 17:59557341-59557341
GRCh38: 17:61479980-61479980
27 TBX4 NM_001321120.2(TBX4):c.47C>T (p.Ala16Val) SNV Uncertain Significance
889395 rs1470554283 GRCh37: 17:59533898-59533898
GRCh38: 17:61456537-61456537
28 TBX4 NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr) SNV Uncertain Significance
889448 rs2060675576 GRCh37: 17:59560345-59560345
GRCh38: 17:61482984-61482984
29 TBX4 NM_001321120.2(TBX4):c.1215G>T (p.Val405=) SNV Uncertain Significance
889449 rs751591708 GRCh37: 17:59560451-59560451
GRCh38: 17:61483090-61483090
30 TBX4 NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu) SNV Uncertain Significance
889450 rs1224135577 GRCh37: 17:59560513-59560513
GRCh38: 17:61483152-61483152
31 TBX4 NM_001321120.2(TBX4):c.1401A>G (p.Pro467=) SNV Uncertain Significance
889451 rs766266920 GRCh37: 17:59560637-59560637
GRCh38: 17:61483276-61483276
32 TBX4 NM_001321120.2(TBX4):c.150C>T (p.Pro50=) SNV Uncertain Significance
890083 rs763175971 GRCh37: 17:59534001-59534001
GRCh38: 17:61456640-61456640
33 TBX4 NM_001321120.2(TBX4):c.*627T>C SNV Uncertain Significance
324282 rs886053193 GRCh37: 17:59561504-59561504
GRCh38: 17:61484143-61484143
34 TBX4 NM_001321120.2(TBX4):c.*98GT[25] MICROSAT Uncertain Significance
324270 rs149977669 GRCh37: 17:59560974-59560975
GRCh38: 17:61483613-61483614
35 TBX4 NM_001321120.2(TBX4):c.*98GT[18] MICROSAT Uncertain Significance
324273 rs149977669 GRCh37: 17:59560975-59560978
GRCh38: 17:61483614-61483617
36 TBX4 NM_001321120.2(TBX4):c.*137TA[1] MICROSAT Uncertain Significance
324276 rs60535903 GRCh37: 17:59561014-59561015
GRCh38: 17:61483653-61483654
37 TBX4 NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) SNV Uncertain Significance
324253 rs370445458 GRCh37: 17:59557298-59557298
GRCh38: 17:61479937-61479937
38 TBX4 NM_001321120.2(TBX4):c.*98GT[26] MICROSAT Uncertain Significance
324271 rs149977669 GRCh37: 17:59560974-59560975
GRCh38: 17:61483613-61483614
39 TBX4 NM_001321120.2(TBX4):c.*661G>A SNV Uncertain Significance
324283 rs886053194 GRCh37: 17:59561538-59561538
GRCh38: 17:61484177-61484177
40 TBX4 NM_001321120.2(TBX4):c.*98GT[27] MICROSAT Uncertain Significance
324272 rs149977669 GRCh37: 17:59560974-59560975
GRCh38: 17:61483613-61483614
41 TBX4 NM_001321120.2(TBX4):c.*136_*139del DEL Uncertain Significance
324275 rs886053189 GRCh37: 17:59561012-59561015
GRCh38: 17:61483651-61483654
42 TBX4 NM_001321120.2(TBX4):c.*252G>C SNV Uncertain Significance
324278 rs886053191 GRCh37: 17:59561129-59561129
GRCh38: 17:61483768-61483768
43 TBX4 NM_001321120.2(TBX4):c.*383G>T SNV Uncertain Significance
324281 rs886053192 GRCh37: 17:59561260-59561260
GRCh38: 17:61483899-61483899
44 TBX4 NM_001321120.2(TBX4):c.*98GT[24] MICROSAT Uncertain Significance
324269 rs149977669 GRCh37: 17:59560974-59560975
GRCh38: 17:61483613-61483614
45 TBX4 NM_001321120.2(TBX4):c.108G>T (p.Ala36=) SNV Uncertain Significance
324244 rs886053186 GRCh37: 17:59533959-59533959
GRCh38: 17:61456598-61456598
46 TBX4 NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) SNV Uncertain Significance
1185696 GRCh37: 17:59543190-59543190
GRCh38: 17:61465829-61465829
47 TBX4 NM_001321120.2(TBX4):c.1090del (p.Glu364fs) DEL Uncertain Significance
975902 rs2060675350 GRCh37: 17:59560322-59560322
GRCh38: 17:61482961-61482961
48 TBX4 NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) SNV Likely Benign
324258 rs147641113 GRCh37: 17:59560309-59560309
GRCh38: 17:61482948-61482948
49 TBX4 NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) SNV Likely Benign
891902 rs372115732 GRCh37: 17:59560341-59560341
GRCh38: 17:61482980-61482980
50 TBX4 NM_001321120.2(TBX4):c.*313A>C SNV Likely Benign
324279 rs141279587 GRCh37: 17:59561190-59561190
GRCh38: 17:61483829-61483829

UniProtKB/Swiss-Prot genetic disease variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

73
# Symbol AA change Variation ID SNP ID
1 TBX4 p.Gly248Val VAR_026745 rs28938474
2 TBX4 p.Gln531Arg VAR_026746 rs28936696

Expression for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Search GEO for disease gene expression data for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension.

Pathways for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Pathways related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.15 GDF2 BMPR2 ACVRL1
2 10.6 TBX5 TBX2 FGF10 BMPR2
3
Show member pathways
10.53 GDF2 BMPR2 ACVRL1

GO Terms for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Biological processes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.43 TBX5 TBX2 PITX1 GDF2 FGF10 BMPR2
2 positive regulation of DNA-templated transcription GO:0045893 10.25 ACVRL1 FGF10 GDF2 TBX2 TBX4 TBX5
3 angiogenesis GO:0001525 10.22 TBX4 GDF2 FGF10 ACVRL1
4 BMP signaling pathway GO:0030509 10.08 GDF2 BMPR2 ACVRL1
5 lung development GO:0030324 10.02 TBX5 TBX4 FGF10
6 endocardial cushion morphogenesis GO:0003203 9.95 TBX2 ACVRL1
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.95 GDF2 BMPR2 ACVRL1
8 smooth muscle cell differentiation GO:0051145 9.94 TBX2 FGF10
9 positive regulation of cartilage development GO:0061036 9.93 GDF2 BMPR2
10 positive regulation of endothelial cell differentiation GO:0045603 9.91 GDF2 ACVRL1
11 positive regulation of BMP signaling pathway GO:0030513 9.91 GDF2 BMPR2 ACVRL1
12 blood vessel remodeling GO:0001974 9.88 ACVRL1 BMPR2 FGF10
13 atrial septum morphogenesis GO:0060413 9.87 TBX5 BMPR2
14 lymphangiogenesis GO:0001946 9.86 BMPR2 ACVRL1
15 cellular response to BMP stimulus GO:0071773 9.85 GDF2 BMPR2 ACVRL1
16 artery development GO:0060840 9.84 BMPR2 ACVRL1
17 limb morphogenesis GO:0035108 9.83 TBX4 FGF10
18 epithelial tube branching involved in lung morphogenesis GO:0060441 9.83 TBX2 FGF10
19 endocardial cushion development GO:0003197 9.83 TBX5 BMPR2
20 retina vasculature development in camera-type eye GO:0061298 9.81 BMPR2 ACVRL1
21 lymphatic endothelial cell differentiation GO:0060836 9.8 BMPR2 ACVRL1
22 cell fate specification GO:0001708 9.8 TBX5 TBX4 TBX2
23 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.78 ACVRL1 BMPR2
24 venous blood vessel development GO:0060841 9.76 BMPR2 ACVRL1
25 atrioventricular valve morphogenesis GO:0003181 9.75 TBX5 BMPR2
26 regulation of macromolecule metabolic process GO:0060255 9.64 BMPR2 ACVRL1
27 regulation of primary metabolic process GO:0080090 9.63 BMPR2 ACVRL1
28 activin receptor signaling pathway GO:0032924 9.63 GDF2 BMPR2 ACVRL1
29 regulation of nitrogen compound metabolic process GO:0051171 9.59 BMPR2 ACVRL1
30 blood vessel morphogenesis GO:0048514 9.56 GDF2 FGF10 ACVRL1
31 positive regulation of endothelial cell proliferation GO:0001938 9.56 GDF2 FGF10 BMPR2 ACVRL1
32 negative regulation of DNA biosynthetic process GO:2000279 9.1 GDF2 BMPR2 ACVRL1

Molecular functions related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.33 BMPR2 ACVRL1
2 transforming growth factor beta receptor activity GO:0005024 9.26 BMPR2 ACVRL1
3 BMP receptor activity GO:0098821 8.92 BMPR2 ACVRL1

Sources for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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