SPS
MCID: SML020
MIFTS: 37

Small Patella Syndrome (SPS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Small Patella Syndrome

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MalaCards based summary: Small Patella Syndrome, also known as ischiopatellar dysplasia, is related to myxozoa and stiff-person syndrome, and has symptoms including patella absent/abnormal (excluding luxation), knee anomalies (excluding patella) and epiphyseal anomaly. An important gene associated with Small Patella Syndrome is TBX4 (T-box 4). Affiliated tissues include bone.

Descriptions from OMIM:46 147891,168850

Aliases & Classifications for Small Patella Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Small Patella Syndrome, Aliases & Descriptions:

Name: Small Patella Syndrome 42 20 46 48 62
Ischiopatellar Dysplasia 42 22 48 62
Patella Aplasia - Coxa Vara - Tarsal Synostosis 48 46
Coxopodopatellar Syndrome 48 62
Scott-Taor Syndrome 42 48
 
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 42
Patella Aplasia, Coxa Vara, Tarsal Synostosis 42
Coxo-Podo-Patellar Syndrome 42
Sps 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
small patella syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

ICD10 via Orphanet26 Q74.1
UMLS via Orphanet63 C1840061, C1868581
MESH via Orphanet35 C536307

Related Diseases for Small Patella Syndrome

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



Diseases related to small patella syndrome

Symptoms for Small Patella Syndrome

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Symptoms by clinical synopsis from OMIM:

147891

Clinical features from OMIM:

147891,168850

Symptoms:

48
  • patella absent/abnormal (excluding luxation)
  • knee anomalies (excluding patella)
  • epiphyseal anomaly
  • autosomal dominant inheritance
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Small Patella Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of the epiphyses hallmark (90%) HP:0005930
2 patellar aplasia hallmark (90%) HP:0006443
3 abnormality of the hip bone typical (50%) HP:0003272
4 autosomal dominant inheritance HP:0000006
5 cleft palate HP:0000175
6 high palate HP:0000218
7 micrognathia HP:0000347
8 pes planus HP:0001763
9 sandal gap HP:0001852
10 patellar dislocation HP:0002999
11 patellar hypoplasia HP:0003065
12 flat capital femoral epiphysis HP:0003370
13 patellar aplasia HP:0006443
14 wide capital femoral epiphyses HP:0008784
15 hypoplasia of the lesser trochanter HP:0008801
16 autosomal dominant inheritance HP:0000006
17 coxa vara HP:0002812
18 talocalcaneal synostosis HP:0005682
19 patellar aplasia HP:0006443

Drugs & Therapeutics for Small Patella Syndrome

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Drug clinical trials:

Search ClinicalTrials for Small Patella Syndrome

Search NIH Clinical Center for Small Patella Syndrome

Genetic Tests for Small Patella Syndrome

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Genetic tests related to Small Patella Syndrome:

id Genetic test Affiliating Genes
1 Small Patella Syndrome20 TBX4
2 Ischiopatellar Dysplasia22

Anatomical Context for Small Patella Syndrome

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MalaCards organs/tissues related to Small Patella Syndrome:

32
Bone

Animal Models for Small Patella Syndrome or affiliated genes

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Publications for Small Patella Syndrome

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Articles related to Small Patella Syndrome:

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

Variations for Small Patella Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1TBX4p.Gly248ValVAR_026745rs28938474
2TBX4p.Gln531ArgVAR_026746rs28936696

Clinvar genetic disease variations for Small Patella Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1TBX4NM_018488.2(TBX4): c.743G> T (p.Gly248Val)single nucleotide variantPathogenicrs28938474GRCh37Chr 17, 59557282: 59557282
2TBX4NM_018488.2(TBX4): c.184C> T (p.Gln62Ter)single nucleotide variantPathogenicrs104894648GRCh37Chr 17, 59534035: 59534035
3TBX4NM_018488.2(TBX4): c.1592A> G (p.Gln531Arg)single nucleotide variantPathogenicrs28936696GRCh37Chr 17, 59560831: 59560831

Expression for genes affiliated with Small Patella Syndrome

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Expression patterns in normal tissues for genes affiliated with Small Patella Syndrome

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

Pathways for genes affiliated with Small Patella Syndrome

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Compounds for genes affiliated with Small Patella Syndrome

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GO Terms for genes affiliated with Small Patella Syndrome

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Products for genes affiliated with Small Patella Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Small Patella Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet