SPS
MCID: SML020
MIFTS: 35

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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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 epiphyseal anomaly, autosomal dominant inheritance and pelvis anomaly/narrow/broad iliac wings/pubis abnormality. An important gene associated with Small Patella Syndrome is TBX4 (T-box 4). Affiliated tissues include bone.

Description from OMIM:47 147891

Aliases & Classifications for Small Patella Syndrome

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Sources:
43NIH Rare Diseases, 20GeneTests, 47OMIM, 49Orphanet, 62UMLS, 22GTR, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

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


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 62
ischiopatellar dysplasia 43 22 49
scott-taor syndrome 43 49
congenital coxa vara, patella aplasia and tarsal synostosis 43
patella aplasia, coxa vara, tarsal synostosis 43
coxo-podo-patellar syndrome 43
coxopodopatellar syndrome 49
sps 49


External Ids:

OMIM47 147891
ICD10 via Orphanet26 Q74.1
UMLS via Orphanet63 C1840061, C1868581

Related Diseases for Small Patella Syndrome

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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

Symptoms for Small Patella Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

147891

Clinical features from OMIM:

147891

Symptoms:

49
  • epiphyseal anomaly
  • autosomal dominant inheritance
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • patella absent/abnormal (excluding luxation)
  • knee anomalies (excluding patella)

Drugs & Therapeutics for Small Patella Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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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

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33MalaCards
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MalaCards organs/tissues related to Small Patella Syndrome:

33
Bone

Animal Models for Small Patella Syndrome or affiliated genes

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Publications for Small Patella Syndrome

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52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1
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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Sources:
2BioGPS, 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

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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
  • Antibodies

Sources for Small Patella Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet