ICPPS
MCID: ISC020
MIFTS: 38

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 57
Ischiopatellar Dysplasia 57 75 53 59 74 29 6
Small Patella Syndrome 57 53 59 74 13
Scott-Taor Syndrome 57 53 59 74
Ischiocoxopodopatellar Syndrome 53 74 37
Coxopodopatellar Syndrome 57 59 74
Sps 57 59 74
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 57 74
Icpps 57 74
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 53
Patella Aplasia, Coxa Vara, Tarsal Synostosis 53
Syndrome, Ischiocoxopodopatellar 40
Small Patella Syndrome; Sps 57
Coxo-Podo-Patellar Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
coxopodopatellar syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 147891
KEGG 37 H00461
MeSH 44 D001848
ICD10 via Orphanet 34 Q74.1
UMLS via Orphanet 73 C1840061 C1868581
Orphanet 59 ORPHA1509
MedGen 42 C1840061

Summaries for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

NIH Rare Diseases : 53 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 and testes, and related phenotypes are abnormality of epiphysis morphology and aplasia/hypoplasia of the patella

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)

KEGG : 37
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 : 74 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 : 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 1153)
# Related Disease Score Top Affiliating Genes
1 stiff-person syndrome 12.5
2 surfactant dysfunction 11.6
3 surfactant metabolism dysfunction, pulmonary, 1 11.5
4 surfactant metabolism dysfunction, pulmonary, 2 11.5
5 farmer's lung 11.5
6 tularemia 11.5
7 streptococcus pneumoniae-associated hemolytic uremic syndrome 11.2
8 aneruptive fever 11.2
9 ventilation pneumonitis 11.2
10 absence of septum pellucidum 11.2
11 posttransplant acute limbic encephalitis 10.7
12 myxozoa 10.7
13 coxa vara 10.6
14 hair whorl 10.5
15 rapidly involuting congenital hemangioma 10.5
16 pulmonary alveolar microlithiasis 10.5
17 precocious puberty 10.5
18 central precocious puberty 10.5
19 idiopathic central precocious puberty 10.5
20 47,xyy 10.4
21 diarrhea 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 post-traumatic stress disorder 10.3
33 acute stress disorder 10.3
34 colorectal cancer 10.3
35 cryptosporidiosis 10.3
36 pneumonia 10.3
37 acute respiratory distress syndrome 10.3
38 iron metabolism disease 10.2
39 lyme disease 10.2
40 keratitis, hereditary 10.2
41 chlamydia 10.2
42 dermatitis 10.2
43 bacterial vaginosis 10.2
44 peritonitis 10.2
45 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
46 respiratory failure 10.2
47 methane production 10.2
48 lung cancer susceptibility 3 10.2
49 cystic fibrosis 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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 aplasia/hypoplasia of the patella 59 32 hallmark (90%) Very frequent (99-80%) HP:0006498
3 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
4 high palate 32 HP:0000218
5 pes planus 32 HP:0001763
6 short stature 32 HP:0004322
7 cleft palate 32 HP:0000175
8 micrognathia 32 HP:0000347
9 sandal gap 32 HP:0001852
10 patellar dislocation 32 HP:0002999
11 abnormality of pelvic girdle bone morphology 59 Frequent (79-30%)
12 coxa vara 32 HP:0002812
13 abnormality of the knee 59 Very frequent (99-80%)
14 patellar aplasia 32 HP:0006443
15 patellar hypoplasia 32 HP:0003065
16 short femur 32 HP:0003097
17 flat capital femoral epiphysis 32 HP:0003370
18 talocalcaneal synostosis 32 HP:0005682
19 wide capital femoral epiphyses 32 HP:0008784
20 hypoplasia of the lesser trochanter 32 HP:0008801

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes planus
tarsal synostosis
talocalcaneal synostosis
wide space between 1st, 2nd toes
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-acetabula axe-cut notches
more

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

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:

41
Bone, Testes

Publications for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

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

(show all 15)
# Title Authors PMID Year
1
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 8 71
23592887 2013
2
Mutations in the human TBX4 gene cause small patella syndrome. 8 71
15106123 2004
3
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. 8 71
11303519 2001
4
[Ischiopatellar dysplasia (Scott and Taor's syndrome of the small patella)]. 38 8
6212344 1981
5
Genetic analyses in a cohort of children with pulmonary hypertension. 8
27587546 2016
6
Human syndromes with congenital patellar anomalies and the underlying gene defects. 8
16143015 2005
7
Small patella syndrome. 8
7573128 1995
8
[The small patella syndrome. A combination of knee and pelvic dysplasia]. 8
3381566 1988
9
[The coxopodopatellar syndrome]. 8
4045792 1985
10
The "small patella" syndrome. 8
438269 1979
11
Congenital coxa vara, patella aplasia and tarsal synostosis: a new inherited syndrome. 8
5512529 1970
12
Small patella syndrome: New clinical and molecular insights into a consistent phenotype. 6
29120062 2017
13
Small patella syndrome. 6
27344077 2017
14
Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. 6
24200447 2013
15
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. 38
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 54)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBX4 NM_001321120.2(TBX4): c.743G> T (p.Gly248Val) single nucleotide variant Pathogenic rs28938474 17:59557282-59557282 17:61479921-61479921
2 TBX4 NM_001321120.2(TBX4): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs104894648 17:59534035-59534035 17:61456674-61456674
3 TBX4 NM_001321120.2(TBX4): c.1595A> G (p.Gln532Arg) single nucleotide variant Pathogenic rs28936696 17:59560831-59560831 17:61483470-61483470
4 TBX4 NM_001321120.2(TBX4): c.355dup (p.Ile119fs) duplication Pathogenic 17:59543253-59543253 17:61465892-61465892
5 TBX4 NM_001321120.2(TBX4): c.759T> A (p.Asp253Glu) single nucleotide variant Uncertain significance rs370445458 17:59557298-59557298 17:61479937-61479937
6 TBX4 NM_001321120.2(TBX4): c.791+11G> A single nucleotide variant Uncertain significance rs368363345 17:59557341-59557341 17:61479980-61479980
7 TBX4 NM_001321120.2(TBX4): c.*98_*99GT[27] short repeat Uncertain significance rs149977669 17:59561001-59561014 17:61483640-61483653
8 TBX4 NM_001321120.2(TBX4): c.*98_*99GT[24] short repeat Uncertain significance rs149977669 17:59561007-59561014 17:61483646-61483653
9 TBX4 NM_001321120.2(TBX4): c.*136_*139del deletion Uncertain significance rs886053189 17:59561013-59561016 17:61483652-61483655
10 TBX4 NM_001321120.2(TBX4): c.*252G> C single nucleotide variant Uncertain significance rs886053191 17:59561129-59561129 17:61483768-61483768
11 TBX4 NM_001321120.2(TBX4): c.*383G> T single nucleotide variant Uncertain significance rs886053192 17:59561260-59561260 17:61483899-61483899
12 TBX4 NM_001321120.2(TBX4): c.*627T> C single nucleotide variant Uncertain significance rs886053193 17:59561504-59561504 17:61484143-61484143
13 TBX4 NM_001321120.2(TBX4): c.*661G> A single nucleotide variant Uncertain significance rs886053194 17:59561538-59561538 17:61484177-61484177
14 TBX4 NM_001321120.2(TBX4): c.110C> T (p.Pro37Leu) single nucleotide variant Uncertain significance rs886053187 17:59533961-59533961 17:61456600-61456600
15 TBX4 NM_001321120.2(TBX4): c.1073C> T (p.Ala358Val) single nucleotide variant Uncertain significance rs147641113 17:59560309-59560309 17:61482948-61482948
16 TBX4 NM_001321120.2(TBX4): c.*98_*99GT[25] short repeat Uncertain significance rs149977669 17:59561005-59561014 17:61483644-61483653
17 TBX4 NM_001321120.2(TBX4): c.*98_*99GT[18] short repeat Uncertain significance rs149977669 17:59561011-59561014 17:61483650-61483653
18 TBX4 NM_001321120.2(TBX4): c.*137_*138TA[1] short repeat Uncertain significance rs60535903 17:59561016-59561017 17:61483655-61483656
19 TBX4 NM_001321120.2(TBX4): c.24C> T (p.Ser8=) single nucleotide variant Uncertain significance rs777880490 17:59533875-59533875 17:61456514-61456514
20 TBX4 NM_001321120.2(TBX4): c.335A> G (p.Lys112Arg) single nucleotide variant Uncertain significance rs377571192 17:59543233-59543233 17:61465872-61465872
21 TBX4 NM_001321120.2(TBX4): c.108G> T (p.Ala36=) single nucleotide variant Uncertain significance rs886053186 17:59533959-59533959 17:61456598-61456598
22 TBX4 NM_001321120.2(TBX4): c.*98_*99GT[26] short repeat Uncertain significance rs149977669 17:59561003-59561014 17:61483642-61483653
23 TBX4 NM_001321120.2(TBX4): c.*99T> A single nucleotide variant Likely benign rs79894176 17:59560976-59560976 17:61483615-61483615
24 TBX4 NM_001321120.2(TBX4): c.249G> A (p.Ala83=) single nucleotide variant Likely benign rs35070263 17:59534960-59534960 17:61457599-61457599
25 TBX4 NM_001321120.2(TBX4): c.622G> A (p.Gly208Ser) single nucleotide variant Likely benign rs78640841 17:59556060-59556060 17:61478699-61478699
26 TBX4 NM_001321120.2(TBX4): c.932C> T (p.Ser311Leu) single nucleotide variant Likely benign rs202061937 17:59557591-59557591 17:61480230-61480230
27 TBX4 NM_001321120.2(TBX4): c.1217C> G (p.Ser406Cys) single nucleotide variant Likely benign rs140662248 17:59560453-59560453 17:61483092-61483092
28 TBX4 NM_001321120.2(TBX4): c.703-8C> T single nucleotide variant Likely benign rs188695560 17:59557234-59557234 17:61479873-61479873
29 TBX4 NM_001321120.2(TBX4): c.*766A> C single nucleotide variant Likely benign rs191996071 17:59561643-59561643 17:61484282-61484282
30 TBX4 NM_001321120.2(TBX4): c.16G> A (p.Gly6Ser) single nucleotide variant Likely benign rs117410176 17:59533867-59533867 17:61456506-61456506
31 TBX4 NM_001321120.2(TBX4): c.104C> T (p.Ala35Val) single nucleotide variant Likely benign rs148424252 17:59533955-59533955 17:61456594-61456594
32 TBX4 NM_001321120.2(TBX4): c.*313A> C single nucleotide variant Likely benign rs141279587 17:59561190-59561190 17:61483829-61483829
33 TBX4 NM_001321120.2(TBX4): c.1086G> C (p.Val362=) single nucleotide variant Likely benign rs61739274 17:59560322-59560322 17:61482961-61482961
34 TBX4 NM_001321120.2(TBX4): c.1158G> A (p.Glu386=) single nucleotide variant Likely benign rs774920212 17:59560394-59560394 17:61483033-61483033
35 TBX4 NM_001321120.2(TBX4): c.1515G> A (p.Lys505=) single nucleotide variant Likely benign rs117324438 17:59560751-59560751 17:61483390-61483390
36 TBX4 NM_001321120.2(TBX4): c.*25G> A single nucleotide variant Likely benign rs185650741 17:59560902-59560902 17:61483541-61483541
37 TBX4 NM_001321120.2(TBX4): c.187-15C> T single nucleotide variant Likely benign rs376619036 17:59534883-59534883 17:61457522-61457522
38 TBX4 NM_001321120.2(TBX4): c.1524G> A (p.Ser508=) single nucleotide variant Likely benign rs188952741 17:59560760-59560760 17:61483399-61483399
39 TBX4 NM_001321120.2(TBX4): c.172G> A (p.Ala58Thr) single nucleotide variant Likely benign rs575407008 17:59534023-59534023 17:61456662-61456662
40 TBX4 NM_001321120.2(TBX4): c.921C> T (p.Asn307=) single nucleotide variant Likely benign rs141188668 17:59557580-59557580 17:61480219-61480219
41 TBX4 NM_001321120.2(TBX4): c.1623G> A (p.Glu541=) single nucleotide variant Likely benign rs762062413 17:59560859-59560859 17:61483498-61483498
42 TBX4 NM_001321120.2(TBX4): c.*7C> T single nucleotide variant Likely benign rs149961771 17:59560884-59560884 17:61483523-61483523
43 TBX4 NM_001321120.2(TBX4): c.*722C> A single nucleotide variant Likely benign rs377432317 17:59561599-59561599 17:61484238-61484238
44 TBX4 NM_001321120.2(TBX4): c.1005C> T (p.His335=) single nucleotide variant Likely benign rs577197197 17:59557664-59557664 17:61480303-61480303
45 TBX4 NM_001321120.2(TBX4): c.*98_*99GT[21] short repeat Benign rs149977669 17:59561013-59561014 17:61483652-61483653
46 TBX4 NM_001321120.2(TBX4): c.*138A> G single nucleotide variant Benign rs77924694 17:59561015-59561015 17:61483654-61483654
47 TBX4 NM_001321120.2(TBX4): c.402-8G> A single nucleotide variant Benign rs758596 17:59544863-59544863 17:61467502-61467502
48 TBX4 NM_001321120.2(TBX4): c.941C> T (p.Ala314Val) single nucleotide variant Benign rs3744438 17:59557600-59557600 17:61480239-61480239
49 TBX4 NM_001321120.2(TBX4): c.1449C> T (p.Val483=) single nucleotide variant Benign rs2270150 17:59560685-59560685 17:61483324-61483324
50 TBX4 NM_001321120.2(TBX4): c.*707G> T single nucleotide variant Benign rs3744437 17:59561584-59561584 17:61484223-61484223

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

74
# 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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10 dbSNP
11 DGIdb
17 EFO
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36 IUPHAR
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58 OMIM via Orphanet
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73 UMLS via Orphanet
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