SPS
MCID: SML020
MIFTS: 35

Small Patella Syndrome (SPS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Small Patella Syndrome

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48OMIM, 34MalaCards
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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:48 147891

Aliases & Classifications for Small Patella Syndrome

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Sources:
44NIH Rare Diseases, 21GeneTests, 48OMIM, 50Orphanet, 63UMLS, 23GTR, 27ICD10 via Orphanet, 64UMLS 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):

50
small patella syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

small patella syndrome 44 21 48 50 63
ischiopatellar dysplasia 44 23 50
scott-taor syndrome 44 50
congenital coxa vara, patella aplasia and tarsal synostosis 44
patella aplasia, coxa vara, tarsal synostosis 44
coxo-podo-patellar syndrome 44
coxopodopatellar syndrome 50
sps 50


External Ids:

OMIM48 147891
ICD10 via Orphanet27 Q74.1
UMLS via Orphanet64 C1840061, C1868581

Related Diseases for Small Patella Syndrome

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Sources:
18GeneCards, 19GeneDecks
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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:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

147891

Clinical features from OMIM:

147891

Symptoms:

50
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Small Patella Syndrome:

id Genetic test Affiliating Genes
1 Small Patella Syndrome21 TBX4
2 Ischiopatellar Dysplasia23

Anatomical Context for Small Patella Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Small Patella Syndrome:

34
Bone

Animal Models for Small Patella Syndrome or affiliated genes

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Publications for Small Patella Syndrome

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Sources:
53PubMed
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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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Small Patella Syndrome:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet