MCID: ISC016
MIFTS: 30

Ischiocoxopodopatellar Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ischiocoxopodopatellar Syndrome

MalaCards integrated aliases for Ischiocoxopodopatellar Syndrome:

Name: Ischiocoxopodopatellar Syndrome 53 71
Ischiopatellar Dysplasia 53 72 49 71 28
Small Patella Syndrome 53 49 71 13 69
Scott-Taor Syndrome 53 49 71
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 53 71
Coxopodopatellar Syndrome 53 71
Icpps 53 71
Sps 53 71
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 49
Patella Aplasia, Coxa Vara, Tarsal Synostosis 49
Small Patella Syndrome; Sps 53
Coxo-Podo-Patellar Syndrome 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ischiocoxopodopatellar syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ischiocoxopodopatellar Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1509Disease definitionSmall patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.EpidemiologyLess that 50 patients have been reported worldwide.Clinical descriptionThe main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies (a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus). Craniofacial anomalies (micrognathia, cleft palate, flattened nose and prominent forehead) have been reported occasionally. Intrafamilial variability of the patellar, pelvic and foot anomalies has been described. Signs and symptoms vary from pain resulting from gonarthrosis in elderly subjects to recurrent luxations from infancy, knee pain, and inability to run and ride a bicycle. However, some cases are asymptomatic.EtiologySPS is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. At present, there is no evidence for a genotype-phenotype correlation.Diagnostic methodsDiagnosis is clinical and radiographical.Differential diagnosisSPS should be recognized and differentiated from disorders with aplastic or hypoplastic patellae, such as isolated familial patella aplasia-hypoplasia (PTLAH) syndrome and the more severe nail-patella syndrome (NPS).Genetic counselingSPS is inherited in an autosomal dominant manner.Management and treatmentEarly surgical treatment, pain relief therapy and supportive measures should be offered.Visit the Orphanet disease page for more resources. Last updated: 11/30/2006

MalaCards based summary : Ischiocoxopodopatellar Syndrome, also known as ischiopatellar dysplasia, is related to stiff-person syndrome and surfactant metabolism dysfunction, pulmonary, 1, and has symptoms including abnormality of epiphysis morphology, high palate and hip dysplasia. An important gene associated with Ischiocoxopodopatellar Syndrome is TBX4 (T-Box 4). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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.

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 22)
# 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 cataract congenital dominant non nuclear 10.1
11 endotheliitis 10.0
12 pneumonia 10.0
13 blood group, i system 10.0
14 spotted fever 10.0
15 nail-patella syndrome 9.9
16 precocious puberty 9.9
17 central precocious puberty 9.9
18 idiopathic central precocious puberty 9.9
19 bacterial vaginosis 9.9
20 campomelic dysplasia 9.7
21 patella aplasia-hypoplasia 9.7
22 pulmonary hypertension, primary, 1 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:

53
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:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 abnormality of epiphysis morphology 31 hallmark (90%) HP:0005930
2 high palate 31 HP:0000218
3 hip dysplasia 31 frequent (33%) HP:0001385
4 pes planus 31 HP:0001763
5 short stature 31 HP:0004322
6 cleft palate 31 HP:0000175
7 micrognathia 31 HP:0000347
8 sandal gap 31 HP:0001852
9 patellar dislocation 31 HP:0002999
10 coxa vara 31 HP:0002812
11 tarsal synostosis 31 HP:0008368
12 aplasia/hypoplasia of the patella 31 hallmark (90%) HP:0006498
13 patellar aplasia 31 HP:0006443
14 patellar hypoplasia 31 HP:0003065
15 short femur 31 HP:0003097
16 flat capital femoral epiphysis 31 HP:0003370
17 talocalcaneal synostosis 31 HP:0005682
18 wide capital femoral epiphyses 31 HP:0008784
19 hypoplasia of the lesser trochanter 31 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 28 TBX4

Anatomical Context for Ischiocoxopodopatellar Syndrome

MalaCards organs/tissues related to Ischiocoxopodopatellar Syndrome:

38
Bone

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:

71
# 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
# 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.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs104894648 GRCh37 Chromosome 17, 59534035: 59534035
3 TBX4 NM_018488.3(TBX4): c.1592A> G (p.Gln531Arg) single nucleotide variant Pathogenic rs28936696 GRCh37 Chromosome 17, 59560831: 59560831

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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