MCID: SML020
MIFTS: 23

Small Patella Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Small Patella Syndrome

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MalaCards based summary: Small Patella Syndrome, also known as ischiopatellar dysplasia, is related to nail-patella syndrome and stiff-person syndrome, and has symptoms including autosomal dominant inheritance, cleft palate and high palate. An important gene associated with Small Patella Syndrome is TBX4 (T-box 4). Affiliated tissues include bone.

Description from OMIM:45 147891

Aliases & Classifications for Small Patella Syndrome

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Small Patella Syndrome, Aliases & Descriptions:

Name: Small Patella Syndrome 45 10 41 20 60
Ischiopatellar Dysplasia 41 22
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 41
 
Patella Aplasia, Coxa Vara, Tarsal Synostosis 41
Coxo-Podo-Patellar Syndrome 41
Scott-Taor Syndrome 41


Classifications:

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


External Ids:

OMIM45 147891

Related Diseases for Small Patella Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1nail-patella syndrome10.3
2stiff-person syndrome10.3
3campomelic dysplasia10.1

Symptoms for Small Patella Syndrome

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Symptoms by clinical synopsis from OMIM:

147891

Clinical features from OMIM:

147891

HPO human phenotypes related to Small Patella Syndrome:

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

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:

31
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:

62
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 Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Small Patella Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet