ICPPS
MCID: ISC020
MIFTS: 41

Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension (ICPPS)

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

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 56 12
Ischiopatellar Dysplasia 56 12 74 52 58 73 29 6 43
Small Patella Syndrome 56 12 52 58 73 13
Scott-Taor Syndrome 56 12 52 58 73
Ischiocoxopodopatellar Syndrome 12 52 73 36
Sps 56 12 58 73
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 56 12 73
Coxopodopatellar Syndrome 56 58 73
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 12 52
Patella Aplasia, Coxa Vara, Tarsal Synostosis 52 43
Coxo-Podo-Patellar Syndrome 12 52
Icpps 56 73
Syndrome, Ischiocoxopodopatellar 39
Small Patella Syndrome; Sps 56
Coxopodipatellar Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
coxopodopatellar syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111382
OMIM 56 147891
KEGG 36 H00461
SNOMED-CT 67 720752007
ICD10 via Orphanet 33 Q74.1
UMLS via Orphanet 72 C1840061 C1868581
Orphanet 58 ORPHA1509
MedGen 41 C1840061
UMLS 71 C1840061 C1868581

Summaries for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

NIH Rare Diseases : 52 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 or mutation ) 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 . Treatment of SPS may include pain management with medications, physical and occupational therapies , and surgical treatments.

MalaCards based summary : Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension, also known as ischiopatellar dysplasia, is related to stiff-person syndrome and surfactant dysfunction. An important gene associated with Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension is TBX4 (T-Box Transcription Factor 4). Affiliated tissues include bone, lung and kidney, and related phenotypes are abnormality of epiphysis morphology and aplasia/hypoplasia of the patella

Disease Ontology : 12 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.

OMIM : 56 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)

KEGG : 36 Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients.

UniProtKB/Swiss-Prot : 73 Ischiocoxopodopatellar syndrome: 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.

Wikipedia : 74 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 1150)
# Related Disease Score Top Affiliating Genes
1 stiff-person syndrome 12.5
2 surfactant dysfunction 11.6
3 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 11.6
4 surfactant metabolism dysfunction, pulmonary, 1 11.5
5 surfactant metabolism dysfunction, pulmonary, 2 11.5
6 tularemia 11.5
7 farmer's lung 11.5
8 streptococcus pneumoniae-associated hemolytic uremic syndrome 11.2
9 aneruptive fever 11.2
10 ventilation pneumonitis 11.2
11 absence of septum pellucidum 11.2
12 posttransplant acute limbic encephalitis 10.7
13 myxozoa 10.7
14 coxa vara 10.6
15 hair whorl 10.5
16 rapidly involuting congenital hemangioma 10.5
17 precocious puberty 10.5
18 central precocious puberty 10.5
19 idiopathic central precocious puberty 10.5
20 diarrhea 10.4
21 47,xyy 10.4
22 helix syndrome 10.4
23 lung disease 10.4
24 kala-azar 1 10.4
25 leishmaniasis 10.4
26 papillomatosis, confluent and reticulated 10.3
27 endocarditis 10.3
28 spotted fever 10.3
29 48,xyyy 10.3
30 triiodothyronine receptor auxiliary protein 10.3
31 autoimmune lymphoproliferative syndrome 10.3
32 colorectal cancer 10.3
33 post-traumatic stress disorder 10.3
34 acute stress disorder 10.3
35 iron metabolism disease 10.3
36 cryptosporidiosis 10.3
37 dermatitis 10.2
38 pneumonia 10.2
39 keratitis, hereditary 10.2
40 lyme disease 10.2
41 chlamydia 10.2
42 bacterial vaginosis 10.2
43 peritonitis 10.2
44 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
45 methane production 10.2
46 lung cancer susceptibility 3 10.2
47 mastitis 10.2
48 respiratory failure 10.2
49 babesiosis 10.2
50 visceral leishmaniasis 10.2

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 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 aplasia/hypoplasia of the patella 58 31 hallmark (90%) Very frequent (99-80%) HP:0006498
3 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
4 high palate 31 HP:0000218
5 pes planus 31 HP:0001763
6 short stature 31 HP:0004322
7 micrognathia 31 HP:0000347
8 cleft palate 31 HP:0000175
9 sandal gap 31 HP:0001852
10 patellar dislocation 31 HP:0002999
11 abnormality of pelvic girdle bone morphology 58 Frequent (79-30%)
12 abnormality of the knee 58 Very frequent (99-80%)
13 coxa vara 31 HP:0002812
14 patellar aplasia 31 HP:0006443
15 short femur 31 HP:0003097
16 patellar hypoplasia 31 HP:0003065
17 flat capital femoral epiphysis 31 HP:0003370
18 talocalcaneal synostosis 31 HP:0005682
19 wide capital femoral epiphyses 31 HP:0008784
20 hypoplasia of the lesser trochanter 31 HP:0008801

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes planus
sandal gap
tarsal synostosis
talocalcaneal synostosis
brachymetatarsia
more
Head And Neck Face:
micrognathia

Skeletal Limbs:
patellar dislocation
aplastic patellae
hypoplastic patellae

Skin Nails Hair Nails:
normal nails

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
high-arched palate

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

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 Ischiopatellar Dysplasia 29 TBX4

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

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

40
Bone, Lung, Kidney, Skin, Thyroid, T Cells, Testes

Publications for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

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

(show all 17)
# Title Authors PMID Year
1
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. 56 6
31761294 2019
2
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. 56 6
31151956 2019
3
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 56 6
23592887 2013
4
Mutations in the human TBX4 gene cause small patella syndrome. 56 6
15106123 2004
5
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. 56 6
11303519 2001
6
[Ischiopatellar dysplasia (Scott and Taor's syndrome of the small patella)]. 61 56
6212344 1981
7
Genetic analyses in a cohort of children with pulmonary hypertension. 56
27587546 2016
8
Human syndromes with congenital patellar anomalies and the underlying gene defects. 56
16143015 2005
9
Small patella syndrome. 56
7573128 1995
10
[The small patella syndrome. A combination of knee and pelvic dysplasia]. 56
3381566 1988
11
[The coxopodopatellar syndrome]. 56
4045792 1985
12
The "small patella" syndrome. 56
438269 1979
13
Congenital coxa vara, patella aplasia and tarsal synostosis: a new inherited syndrome. 56
5512529 1970
14
Small patella syndrome: New clinical and molecular insights into a consistent phenotype. 52
29120062 2017
15
Small patella syndrome. 52
27344077 2017
16
Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. 52
24200447 2013
17
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. 61
9133358 1997

Variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

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

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX4 NM_001321120.2(TBX4):c.743G>T (p.Gly248Val)SNV Pathogenic 7855 rs28938474 17:59557282-59557282 17:61479921-61479921
2 TBX4 NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter)SNV Pathogenic 7856 rs104894648 17:59534035-59534035 17:61456674-61456674
3 TBX4 NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg)SNV Pathogenic 7857 rs28936696 17:59560831-59560831 17:61483470-61483470
4 TBX4 NM_001321120.2(TBX4):c.355dup (p.Ile119fs)duplication Pathogenic 633610 rs1569036773 17:59543252-59543253 17:61465891-61465892
5 TBX4 NM_001321120.2(TBX4):c.251del (p.Gly84fs)deletion Pathogenic 800703 17:59534960-59534960 17:61457599-61457599
6 TBX4 NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)SNV Pathogenic 800704 17:59560293-59560293 17:61482932-61482932
7 TBX4 NM_001321120.2(TBX4):c.792-1G>CSNV Pathogenic 800705 17:59557450-59557450 17:61480089-61480089
8 TBX4 NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)SNV Pathogenic 805945 17:59543237-59543237 17:61465876-61465876
9 TBX4 NM_001321120.2(TBX4):c.281+1G>TSNV Pathogenic 807511 17:59534993-59534993 17:61457632-61457632
10 TBX4 NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr)SNV Uncertain significance 800781 17:59544993-59544993 17:61467632-61467632
11 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[26]short repeat Uncertain significance 324271 rs149977669 17:59560974-59560975 17:61483613-61483614
12 TBX4 NM_001321120.2(TBX4):c.108G>T (p.Ala36=)SNV Uncertain significance 324244 rs886053186 17:59533959-59533959 17:61456598-61456598
13 TBX4 NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg)SNV Uncertain significance 324250 rs377571192 17:59543233-59543233 17:61465872-61465872
14 TBX4 NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg)SNV Uncertain significance 279597 rs886041115 17:59555995-59555995 17:61478634-61478634
15 TBX4 NM_001321120.2(TBX4):c.*661G>ASNV Uncertain significance 324283 rs886053194 17:59561538-59561538 17:61484177-61484177
16 TBX4 NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu)SNV Uncertain significance 324245 rs886053187 17:59533961-59533961 17:61456600-61456600
17 TBX4 NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu)SNV Uncertain significance 324253 rs370445458 17:59557298-59557298 17:61479937-61479937
18 TBX4 NM_001321120.2(TBX4):c.791+11G>ASNV Uncertain significance 324254 rs368363345 17:59557341-59557341 17:61479980-61479980
19 TBX4 NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val)SNV Uncertain significance 324258 rs147641113 17:59560309-59560309 17:61482948-61482948
20 TBX4 NM_001321120.2(TBX4):c.*136_*139deldeletion Uncertain significance 324275 rs886053189 17:59561012-59561015 17:61483651-61483654
21 TBX4 NM_001321120.2(TBX4):c.*252G>CSNV Uncertain significance 324278 rs886053191 17:59561129-59561129 17:61483768-61483768
22 TBX4 NM_001321120.2(TBX4):c.*383G>TSNV Uncertain significance 324281 rs886053192 17:59561260-59561260 17:61483899-61483899
23 TBX4 NM_001321120.2(TBX4):c.*627T>CSNV Uncertain significance 324282 rs886053193 17:59561504-59561504 17:61484143-61484143
24 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[27]short repeat Uncertain significance 324272 rs149977669 17:59560974-59560975 17:61483613-61483614
25 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[24]short repeat Uncertain significance 324269 rs149977669 17:59560974-59560975 17:61483613-61483614
26 TBX4 NM_001321120.2(TBX4):c.24C>T (p.Ser8=)SNV Uncertain significance 324242 rs777880490 17:59533875-59533875 17:61456514-61456514
27 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[25]short repeat Uncertain significance 324270 rs149977669 17:59560974-59560975 17:61483613-61483614
28 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[18]short repeat Uncertain significance 324273 rs149977669 17:59560975-59560978 17:61483614-61483617
29 TBX4 NM_001321120.2(TBX4):c.*137_*138TA[1]short repeat Uncertain significance 324276 rs60535903 17:59561014-59561015 17:61483653-61483654
30 TBX4 NM_001321120.2(TBX4):c.*313A>CSNV Likely benign 324279 rs141279587 17:59561190-59561190 17:61483829-61483829
31 TBX4 NM_001321120.2(TBX4):c.*722C>ASNV Likely benign 324285 rs377432317 17:59561599-59561599 17:61484238-61484238
32 TBX4 NM_001321120.2(TBX4):c.1158G>A (p.Glu386=)SNV Likely benign 324260 rs774920212 17:59560394-59560394 17:61483033-61483033
33 TBX4 NM_001321120.2(TBX4):c.1005C>T (p.His335=)SNV Likely benign 324257 rs577197197 17:59557664-59557664 17:61480303-61480303
34 TBX4 NM_001321120.2(TBX4):c.187-15C>TSNV Likely benign 324247 rs376619036 17:59534883-59534883 17:61457522-61457522
35 TBX4 NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr)SNV Likely benign 324246 rs575407008 17:59534023-59534023 17:61456662-61456662
36 TBX4 NM_001321120.2(TBX4):c.1524G>A (p.Ser508=)SNV Likely benign 324264 rs188952741 17:59560760-59560760 17:61483399-61483399
37 TBX4 NM_001321120.2(TBX4):c.1623G>A (p.Glu541=)SNV Likely benign 324265 rs762062413 17:59560859-59560859 17:61483498-61483498
38 TBX4 NM_001321120.2(TBX4):c.*7C>TSNV Likely benign 324266 rs149961771 17:59560884-59560884 17:61483523-61483523
39 TBX4 NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser)SNV Likely benign 324251 rs78640841 17:59556060-59556060 17:61478699-61478699
40 TBX4 NM_001321120.2(TBX4):c.*25G>ASNV Likely benign 324267 rs185650741 17:59560902-59560902 17:61483541-61483541
41 TBX4 NM_001321120.2(TBX4):c.*99T>ASNV Likely benign 324274 rs79894176 17:59560976-59560976 17:61483615-61483615
42 TBX4 NM_001321120.2(TBX4):c.*766A>CSNV Likely benign 324286 rs191996071 17:59561643-59561643 17:61484282-61484282
43 TBX4 NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser)SNV Likely benign 324240 rs117410176 17:59533867-59533867 17:61456506-61456506
44 TBX4 NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys)SNV Likely benign 324261 rs140662248 17:59560453-59560453 17:61483092-61483092
45 TBX4 NM_001321120.2(TBX4):c.104C>T (p.Ala35Val)SNV Benign/Likely benign 324243 rs148424252 17:59533955-59533955 17:61456594-61456594
46 TBX4 NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu)SNV Benign/Likely benign 324256 rs202061937 17:59557591-59557591 17:61480230-61480230
47 TBX4 NM_001321120.2(TBX4):c.249G>A (p.Ala83=)SNV Benign/Likely benign 324248 rs35070263 17:59534960-59534960 17:61457599-61457599
48 TBX4 NM_001321120.2(TBX4):c.921C>T (p.Asn307=)SNV Benign/Likely benign 324255 rs141188668 17:59557580-59557580 17:61480219-61480219
49 TBX4 NM_001321120.2(TBX4):c.1515G>A (p.Lys505=)SNV Benign/Likely benign 324263 rs117324438 17:59560751-59560751 17:61483390-61483390
50 TBX4 NM_001321120.2(TBX4):c.1086G>C (p.Val362=)SNV Benign/Likely benign 324259 rs61739274 17:59560322-59560322 17:61482961-61482961

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...

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

Sources for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

3 CDC
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17 EFO
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72 UMLS via Orphanet
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