SPS
MCID: SML020
MIFTS: 26

Small Patella Syndrome (SPS) malady

Bone, Fetal categories

Summaries for Small Patella Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Small Patella Syndrome, also known as ischiopatellar dysplasia, is related to myxozoa and klebsiella, 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).

Description from OMIM:47 147891

Aliases & Classifications for Small Patella Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
small patella syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

small patella syndrome 43 20 47 49 61
ischiopatellar dysplasia 43 22 49
coxo-podo-patellar syndrome 43 49
scott-taor syndrome 43 49
congenital coxa vara, patella aplasia and tarsal synostosis 43
patella aplasia, coxa vara, tarsal synostosis 43
sps 49


External Ids:

OMIM47 147891
ICD10 via Orphanet26 Q74.1

Related Diseases for Small Patella Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Small Patella Syndrome:



Diseases related to small patella syndrome

Clinical Features for Small Patella Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

147891

Clinical synopsis from OMIM:

147891

Symptoms:

49 (show all 6)
  • 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

Drugs & Therapeutics for Small Patella Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Small Patella Syndrome

Drug clinical trials:

Search ClinicalTrials for Small Patella Syndrome

Search NIH Clinical Center for Small Patella Syndrome

Search CenterWatch for Small Patella Syndrome

Genetic Tests for Small Patella Syndrome

Sources:
20GeneTests, 22GTR
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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

Animal Models for Small Patella Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Small Patella Syndrome

Sources:
51PubMed
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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
9
The &quot;small patella&quot; syndrome. (438269)
1979

Genetic Variations for Small Patella Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Small Patella Syndrome:

63
id Symbol AA change Variation SNP ID
1TBX4p.Gly248ValVAR_026745rs28938474
2TBX4p.Gln531ArgVAR_026746rs28936696

Expression for genes affiliated with Small Patella Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Small Patella Syndrome

GO Terms for genes affiliated with Small Patella Syndrome

Products for genes affiliated with Small Patella Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Small Patella Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet