ICPPS
MCID: SML020
MIFTS: 36

Small Patella Syndrome (ICPPS) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Small Patella Syndrome

Aliases & Descriptions for Small Patella Syndrome:

Name: Small Patella Syndrome 54 50 24 66 13 69
Ischiopatellar Dysplasia 50 66 29
Scott-Taor Syndrome 50 66
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 50
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 66
Patella Aplasia, Coxa Vara, Tarsal Synostosis 50
Ischiocoxopodopatellar Syndrome 66
Coxo-Podo-Patellar Syndrome 50
Coxopodopatellar Syndrome 66
Icpps 66
Sps 66

Characteristics:

HPO:

32
small patella syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 147891
MedGen 40 C1840061
MeSH 42 D001848

Summaries for Small Patella Syndrome

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Small Patella 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 Small Patella Syndrome is TBX4 (T-Box 4). The drugs Acetaminophen and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is limbs/digits/tail.

Description from OMIM: 147891

Related Diseases for Small Patella Syndrome

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

(show top 50) (show all 267)
id Related Disease Score Top Affiliating Genes
1 stiff-person syndrome 12.0
2 surfactant metabolism dysfunction, pulmonary, 1 10.8
3 surfactant metabolism dysfunction, pulmonary, 2 10.8
4 absence of septum pellucidum 10.8
5 aneruptive fever 10.8
6 ventilation pneumonitis 10.8
7 farmer's lung 10.8
8 tularemia 10.8
9 myxozoa 10.4
10 pneumonia 9.9
11 spotted fever 9.8
12 supranuclear palsy, progressive 9.8 SOX9 TBX4
13 nail-patella syndrome 9.8
14 endotheliitis 9.8
15 hepatitis 9.8
16 phaeohyphomycosis 9.8
17 coccidiosis 9.8
18 hereditary elliptocytosis 9.8
19 lung disease 9.7
20 relapsing fever 9.7
21 aspergillosis 9.7
22 bacterial vaginosis 9.7
23 mycetoma 9.7
24 mycobacterium chelonae 9.7
25 cystic fibrosis 9.7
26 mycobacterium fortuitum 9.7
27 pancreatitis 9.7
28 campomelic dysplasia 9.7
29 patella aplasia-hypoplasia 9.7
30 dermatitis 9.7
31 conjunctivitis 9.7
32 breast cancer 9.7
33 nocardiosis 9.7
34 diarrhea 9.7
35 myiasis 9.6
36 keratitis 9.6
37 acute diarrhea 9.6
38 pancreatic cancer 9.6
39 social phobia 9.6
40 tuberculosis 9.6
41 leishmaniasis 9.6
42 adenocarcinoma 9.6
43 mycobacterium abscessus 9.6
44 neuronitis 9.6
45 sinusitis 9.6
46 hypoxia 9.5
47 otitis media 9.5
48 invasive aspergillosis 9.5
49 encephalitis 9.5
50 obesity 9.5

Graphical network of the top 20 diseases related to Small Patella Syndrome:



Diseases related to Small Patella Syndrome

Symptoms & Phenotypes for Small Patella Syndrome

Symptoms by clinical synopsis from OMIM:

147891

Clinical features from OMIM:

147891

Human phenotypes related to Small Patella Syndrome:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 abnormality of epiphysis morphology 32 HP:0005930
2 high palate 32 HP:0000218
3 hip dysplasia 32 HP:0001385
4 pes planus 32 HP:0001763
5 cleft palate 32 HP:0000175
6 micrognathia 32 HP:0000347
7 sandal gap 32 HP:0001852
8 patellar dislocation 32 HP:0002999
9 aplasia/hypoplasia of the patella 32 HP:0006498
10 patellar aplasia 32 HP:0006443
11 patellar hypoplasia 32 HP:0003065
12 flat capital femoral epiphysis 32 HP:0003370
13 wide capital femoral epiphyses 32 HP:0008784
14 hypoplasia of the lesser trochanter 32 HP:0008801

MGI Mouse Phenotypes related to Small Patella Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 SOX9 TBX4

Drugs & Therapeutics for Small Patella Syndrome

Drugs for Small Patella Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Analgesics Phase 4
3 Analgesics, Non-Narcotic Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Antipyretics Phase 4
6
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759
7
Povidone-iodine Approved 25655-41-8
8
Menthol Approved 2216-51-5 16666
9 Adjuvants, Immunologic
10 Viscosupplements
11 Hylan
12 Protective Agents
13
s 1 (combination)
14 Chelating Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain Syndrome Unknown status NCT02241148 Phase 4
2 Randomized Evaluation of the Efficacy of Synvisc-One® for the Treatment of Patellofemoral Chondromalacia Unknown status NCT01771952
3 Study of Heritable Connective Tissue Disorders Completed NCT00001641
4 Efficiency of Patellar Taping in Treatment of Patellofemoral Pain Syndrome Completed NCT01504100
5 Changes in Quadriceps Function Following Local or Distant Interventions in Individuals With Patellofemoral Pain Completed NCT01434966
6 Early Intervention for Adolescents With Patellofemoral Pain Syndrome Completed NCT01438762
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Bracing for Patellofemoral Osteoarthritis Not yet recruiting NCT02984254

Search NIH Clinical Center for Small Patella Syndrome

Genetic Tests for Small Patella Syndrome

Genetic tests related to Small Patella Syndrome:

id Genetic test Affiliating Genes
1 Ischiopatellar Dysplasia 29
2 Small Patella Syndrome 24 TBX4

Anatomical Context for Small Patella Syndrome

MalaCards organs/tissues related to Small Patella Syndrome:

39
Bone

Publications for Small Patella Syndrome

Articles related to Small Patella Syndrome:

id Title Authors Year
1
Magnetic Resonance Imaging Findings in Small Patella Syndrome. ( 26955616 )
2016
2
Small patella syndrome. ( 27344077 )
2016
3
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. ( 23592887 )
2013
4
Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. ( 24200447 )
2013
5
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. ( 24038782 )
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 Small Patella Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Small Patella Syndrome:

66
id 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 Small Patella Syndrome:

6
id 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 Small Patella Syndrome

Search GEO for disease gene expression data for Small Patella Syndrome.

Pathways for Small Patella Syndrome

GO Terms for Small Patella Syndrome

Molecular functions related to Small Patella Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 8.62 SOX9 TBX4

Sources for Small Patella Syndrome

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