MCID: ISC016
MIFTS: 31

Ischiocoxopodopatellar Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ischiocoxopodopatellar Syndrome

MalaCards integrated aliases for Ischiocoxopodopatellar Syndrome:

Name: Ischiocoxopodopatellar Syndrome 57 53 75
Ischiopatellar Dysplasia 57 76 53 75 29 6
Small Patella Syndrome 57 53 75 13 73
Scott-Taor Syndrome 57 53 75
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 57 75
Coxopodopatellar Syndrome 57 75
Icpps 57 75
Sps 57 75
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:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ischiocoxopodopatellar syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ischiocoxopodopatellar Syndrome

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, also known as ischiopatellar dysplasia, is related to stiff-person syndrome and surfactant metabolism dysfunction, pulmonary, 1. An important gene associated with Ischiocoxopodopatellar Syndrome is TBX4 (T-Box 4). Affiliated tissues include bone and testes, and related phenotypes are abnormality of epiphysis morphology and high palate

UniProtKB/Swiss-Prot : 75 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 : 76 Ischiopatellar dysplasia is a rare autosomal dominant disorder characterized by a hypoplasia of the... more...

Description from OMIM: 147891

Related Diseases for Ischiocoxopodopatellar Syndrome

Diseases related to Ischiocoxopodopatellar Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 stiff-person syndrome 12.1
2 surfactant metabolism dysfunction, pulmonary, 1 10.9
3 surfactant metabolism dysfunction, pulmonary, 2 10.9
4 aneruptive fever 10.9
5 ventilation pneumonitis 10.9
6 farmer's lung 10.9
7 tularemia 10.9
8 absence of septum pellucidum 10.9
9 myxozoa 10.5
10 pneumonia 10.1
11 precocious puberty 10.0
12 central precocious puberty 10.0
13 idiopathic central precocious puberty 10.0
14 endotheliitis 10.0
15 spotted fever 10.0
16 bacterial vaginosis 9.9
17 pulmonary fibrosis 9.9
18 nail-patella syndrome 9.9
19 aging 9.9
20 post-traumatic stress disorder 9.9
21 campomelic dysplasia 9.7
22 patella aplasia-hypoplasia 9.7
23 pulmonary hypertension, primary, 1 9.7
24 waardenburg's syndrome 9.7
25 type i 9.7
26 absent patella 9.7

Graphical network of the top 20 diseases related to Ischiocoxopodopatellar Syndrome:



Diseases related to Ischiocoxopodopatellar Syndrome

Symptoms & Phenotypes for Ischiocoxopodopatellar Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes planus
tarsal synostosis
wide space between 1st, 2nd toes
brachymetatarsia
short fourth and fifth rays
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

Human phenotypes related to Ischiocoxopodopatellar Syndrome:

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

Drugs & Therapeutics for Ischiocoxopodopatellar Syndrome

Search Clinical Trials , NIH Clinical Center for Ischiocoxopodopatellar Syndrome

Genetic Tests for Ischiocoxopodopatellar Syndrome

Genetic tests related to Ischiocoxopodopatellar Syndrome:

# Genetic test Affiliating Genes
1 Ischiopatellar Dysplasia 29 TBX4

Anatomical Context for Ischiocoxopodopatellar Syndrome

MalaCards organs/tissues related to Ischiocoxopodopatellar Syndrome:

41
Bone, Testes

Publications for Ischiocoxopodopatellar Syndrome

Articles related to Ischiocoxopodopatellar Syndrome:

# Title Authors Year
1
Small patella syndrome. ( 27344077 )
2016
2
Magnetic Resonance Imaging Findings in Small Patella Syndrome. ( 26955616 )
2016
3
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. ( 24038782 )
2013
4
Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. ( 24200447 )
2013
5
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. ( 23592887 )
2013
6
Mutations in the human TBX4 gene cause small patella syndrome. ( 15106123 )
2004
7
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. ( 11303519 )
2001
8
Waardenburg syndrome type I and small patella syndrome in the same patient. ( 10618897 )
1999
9
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. ( 9133358 )
1997
10
Small patella syndrome. ( 7573128 )
1995

Variations for Ischiocoxopodopatellar Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ischiocoxopodopatellar Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 TBX4 p.Gly248Val VAR_026745 rs28938474
2 TBX4 p.Gln531Arg VAR_026746 rs28936696

ClinVar genetic disease variations for Ischiocoxopodopatellar Syndrome:

6
(show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX4 NM_018488.3(TBX4): c.743G> T (p.Gly248Val) single nucleotide variant Pathogenic rs28938474 GRCh37 Chromosome 17, 59557282: 59557282
2 TBX4 NM_018488.3(TBX4): c.743G> T (p.Gly248Val) single nucleotide variant Pathogenic rs28938474 GRCh38 Chromosome 17, 61479921: 61479921
3 TBX4 NM_018488.3(TBX4): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs104894648 GRCh37 Chromosome 17, 59534035: 59534035
4 TBX4 NM_018488.3(TBX4): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs104894648 GRCh38 Chromosome 17, 61456674: 61456674
5 TBX4 NM_018488.3(TBX4): c.1592A> G (p.Gln531Arg) single nucleotide variant Pathogenic rs28936696 GRCh37 Chromosome 17, 59560831: 59560831
6 TBX4 NM_018488.3(TBX4): c.1592A> G (p.Gln531Arg) single nucleotide variant Pathogenic rs28936696 GRCh38 Chromosome 17, 61483470: 61483470
7 TBX4 NM_018488.3(TBX4): c.402-8G> A single nucleotide variant Benign rs758596 GRCh37 Chromosome 17, 59544863: 59544863
8 TBX4 NM_018488.3(TBX4): c.402-8G> A single nucleotide variant Benign rs758596 GRCh38 Chromosome 17, 61467502: 61467502
9 TBX4 NM_018488.3(TBX4): c.941C> T (p.Ala314Val) single nucleotide variant Benign rs3744438 GRCh37 Chromosome 17, 59557600: 59557600
10 TBX4 NM_018488.3(TBX4): c.941C> T (p.Ala314Val) single nucleotide variant Benign rs3744438 GRCh38 Chromosome 17, 61480239: 61480239
11 TBX4 NM_018488.3(TBX4): c.1446C> T (p.Val482=) single nucleotide variant Benign rs2270150 GRCh38 Chromosome 17, 61483324: 61483324
12 TBX4 NM_018488.3(TBX4): c.1446C> T (p.Val482=) single nucleotide variant Benign rs2270150 GRCh37 Chromosome 17, 59560685: 59560685
13 TBX4 NM_018488.3(TBX4): c.172G> A (p.Ala58Thr) single nucleotide variant Likely benign rs575407008 GRCh38 Chromosome 17, 61456662: 61456662
14 TBX4 NM_018488.3(TBX4): c.172G> A (p.Ala58Thr) single nucleotide variant Likely benign rs575407008 GRCh37 Chromosome 17, 59534023: 59534023
15 TBX4 NM_018488.3(TBX4): c.921C> T (p.Asn307=) single nucleotide variant Likely benign rs141188668 GRCh38 Chromosome 17, 61480219: 61480219
16 TBX4 NM_018488.3(TBX4): c.921C> T (p.Asn307=) single nucleotide variant Likely benign rs141188668 GRCh37 Chromosome 17, 59557580: 59557580
17 TBX4 NM_018488.3(TBX4): c.1521G> A (p.Ser507=) single nucleotide variant Likely benign rs188952741 GRCh38 Chromosome 17, 61483399: 61483399
18 TBX4 NM_018488.3(TBX4): c.1521G> A (p.Ser507=) single nucleotide variant Likely benign rs188952741 GRCh37 Chromosome 17, 59560760: 59560760
19 TBX4 NM_018488.3(TBX4): c.1620G> A (p.Glu540=) single nucleotide variant Likely benign rs762062413 GRCh38 Chromosome 17, 61483498: 61483498
20 TBX4 NM_018488.3(TBX4): c.1620G> A (p.Glu540=) single nucleotide variant Likely benign rs762062413 GRCh37 Chromosome 17, 59560859: 59560859
21 TBX4 NM_018488.3(TBX4): c.*7C> T single nucleotide variant Likely benign rs149961771 GRCh38 Chromosome 17, 61483523: 61483523
22 TBX4 NM_018488.3(TBX4): c.*7C> T single nucleotide variant Likely benign rs149961771 GRCh37 Chromosome 17, 59560884: 59560884
23 TBX4 NM_018488.3(TBX4): c.*138A> G single nucleotide variant Benign rs77924694 GRCh38 Chromosome 17, 61483654: 61483654
24 TBX4 NM_018488.3(TBX4): c.*138A> G single nucleotide variant Benign rs77924694 GRCh37 Chromosome 17, 59561015: 59561015
25 TBX4 NM_018488.3(TBX4): c.*661G> A single nucleotide variant Uncertain significance rs886053194 GRCh38 Chromosome 17, 61484177: 61484177
26 TBX4 NM_018488.3(TBX4): c.*661G> A single nucleotide variant Uncertain significance rs886053194 GRCh37 Chromosome 17, 59561538: 59561538
27 TBX4 NM_018488.3(TBX4): c.*707G> T single nucleotide variant Benign rs3744437 GRCh38 Chromosome 17, 61484223: 61484223
28 TBX4 NM_018488.3(TBX4): c.*707G> T single nucleotide variant Benign rs3744437 GRCh37 Chromosome 17, 59561584: 59561584
29 TBX4 NM_018488.3(TBX4): c.17G> C (p.Gly6Ala) single nucleotide variant Benign rs3744448 GRCh38 Chromosome 17, 61456507: 61456507
30 TBX4 NM_018488.3(TBX4): c.17G> C (p.Gly6Ala) single nucleotide variant Benign rs3744448 GRCh37 Chromosome 17, 59533868: 59533868
31 TBX4 NM_018488.3(TBX4): c.110C> T (p.Pro37Leu) single nucleotide variant Uncertain significance rs886053187 GRCh38 Chromosome 17, 61456600: 61456600
32 TBX4 NM_018488.3(TBX4): c.110C> T (p.Pro37Leu) single nucleotide variant Uncertain significance rs886053187 GRCh37 Chromosome 17, 59533961: 59533961
33 TBX4 NM_018488.3(TBX4): c.187-15C> T single nucleotide variant Likely benign rs376619036 GRCh38 Chromosome 17, 61457522: 61457522
34 TBX4 NM_018488.3(TBX4): c.187-15C> T single nucleotide variant Likely benign rs376619036 GRCh37 Chromosome 17, 59534883: 59534883
35 TBX4 NM_018488.3(TBX4): c.759T> A (p.Asp253Glu) single nucleotide variant Uncertain significance rs370445458 GRCh38 Chromosome 17, 61479937: 61479937
36 TBX4 NM_018488.3(TBX4): c.759T> A (p.Asp253Glu) single nucleotide variant Uncertain significance rs370445458 GRCh37 Chromosome 17, 59557298: 59557298
37 TBX4 NM_018488.3(TBX4): c.791+11G> A single nucleotide variant Uncertain significance rs368363345 GRCh38 Chromosome 17, 61479980: 61479980
38 TBX4 NM_018488.3(TBX4): c.791+11G> A single nucleotide variant Uncertain significance rs368363345 GRCh37 Chromosome 17, 59557341: 59557341
39 TBX4 NM_018488.3(TBX4): c.1005C> T (p.His335=) single nucleotide variant Likely benign rs577197197 GRCh38 Chromosome 17, 61480303: 61480303
40 TBX4 NM_018488.3(TBX4): c.1005C> T (p.His335=) single nucleotide variant Likely benign rs577197197 GRCh37 Chromosome 17, 59557664: 59557664
41 TBX4 NM_018488.3(TBX4): c.1070C> T (p.Ala357Val) single nucleotide variant Uncertain significance rs147641113 GRCh38 Chromosome 17, 61482948: 61482948
42 TBX4 NM_018488.3(TBX4): c.1070C> T (p.Ala357Val) single nucleotide variant Uncertain significance rs147641113 GRCh37 Chromosome 17, 59560309: 59560309
43 TBX4 NM_018488.3(TBX4): c.1083G> C (p.Val361=) single nucleotide variant Likely benign rs61739274 GRCh37 Chromosome 17, 59560322: 59560322
44 TBX4 NM_018488.3(TBX4): c.1083G> C (p.Val361=) single nucleotide variant Likely benign rs61739274 GRCh38 Chromosome 17, 61482961: 61482961
45 TBX4 NM_018488.3(TBX4): c.1155G> A (p.Glu385=) single nucleotide variant Likely benign rs774920212 GRCh38 Chromosome 17, 61483033: 61483033
46 TBX4 NM_018488.3(TBX4): c.1155G> A (p.Glu385=) single nucleotide variant Likely benign rs774920212 GRCh37 Chromosome 17, 59560394: 59560394
47 TBX4 NM_018488.3(TBX4): c.1512G> A (p.Lys504=) single nucleotide variant Likely benign rs117324438 GRCh38 Chromosome 17, 61483390: 61483390
48 TBX4 NM_018488.3(TBX4): c.1512G> A (p.Lys504=) single nucleotide variant Likely benign rs117324438 GRCh37 Chromosome 17, 59560751: 59560751
49 TBX4 NM_018488.3(TBX4): c.*25G> A single nucleotide variant Likely benign rs185650741 GRCh38 Chromosome 17, 61483541: 61483541
50 TBX4 NM_018488.3(TBX4): c.*25G> A single nucleotide variant Likely benign rs185650741 GRCh37 Chromosome 17, 59560902: 59560902

Expression for Ischiocoxopodopatellar Syndrome

Search GEO for disease gene expression data for Ischiocoxopodopatellar Syndrome.

Pathways for Ischiocoxopodopatellar Syndrome

GO Terms for Ischiocoxopodopatellar Syndrome

Sources for Ischiocoxopodopatellar Syndrome

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