SPS
MCID: SML020
MIFTS: 30

Small Patella Syndrome (SPS) malady

Bone diseases, Fetal diseases categories

Summaries for Small Patella Syndrome

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Small Patella Syndrome, also known as ischiopatellar dysplasia, is related to stiff-person syndrome and pneumonia, 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.

Description from OMIM:46 147891

Aliases & Classifications for Small Patella Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: 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


Aliases & Descriptions:

small patella syndrome 42 20 46 48 60
ischiopatellar dysplasia 42 22 48
coxo-podo-patellar syndrome 42 48
scott-taor syndrome 42 48
congenital coxa vara, patella aplasia and tarsal synostosis 42
patella aplasia, coxa vara, tarsal synostosis 42
sps 48


External Ids:

OMIM46 147891
ICD10 via Orphanet26 Q74.1

Related Diseases for Small Patella Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to small patella syndrome

Clinical Features for Small Patella Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

147891

Clinical synopsis from OMIM:

147891

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

Drugs & Therapeutics for Small Patella Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Small Patella Syndrome:

32
Bone

Animal Models for Small Patella Syndrome or affiliated genes

About this section

Publications for Small Patella Syndrome

About this section

Genetic Variations for Small Patella Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Small Patella Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TBX4p.Gly248ValVAR_026745rs28938474
2TBX4p.Gln531ArgVAR_026746rs28936696

Expression for genes affiliated with Small Patella Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Small Patella Syndrome

About this section

GO Terms for genes affiliated with Small Patella Syndrome

About this section

Products for genes affiliated with Small Patella Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Small Patella Syndrome

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet