MCID: ABS007
MIFTS: 15

Absent Patella

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Absent Patella

MalaCards integrated aliases for Absent Patella:

Name: Absent Patella 53
Familial Absence of the Patella 53
Familial Aplasia of the Patella 53
Patella Aplasia-Hypoplasia 53
Ptlah 53

Classifications:



Summaries for Absent Patella

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 86789Disease definitionIsolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.Visit the Orphanet disease page for more resources.

MalaCards based summary : Absent Patella, also known as familial absence of the patella, is related to patella aplasia-hypoplasia and aniridia and absent patella. Affiliated tissues include bone.

Related Diseases for Absent Patella

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

# Related Disease Score Top Affiliating Genes
1 patella aplasia-hypoplasia 12.4
2 aniridia and absent patella 12.4
3 meier-gorlin syndrome 1 11.8
4 genitopatellar syndrome 11.8
5 singh chhaparwal dhanda syndrome 11.1
6 ischiocoxopodopatellar syndrome 10.0
7 nail-patella syndrome 10.0
8 scoliosis 9.8
9 renal dysplasia 9.8
10 microtia 9.8

Graphical network of the top 20 diseases related to Absent Patella:



Diseases related to Absent Patella

Symptoms & Phenotypes for Absent Patella

Drugs & Therapeutics for Absent Patella

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Absent Patella

Genetic Tests for Absent Patella

Anatomical Context for Absent Patella

MalaCards organs/tissues related to Absent Patella:

41
Bone

Publications for Absent Patella

Articles related to Absent Patella:

(show all 11)
# Title Authors Year
1
Isolated unilateral absent patella and contralateral small patella. ( 24001732 )
2013
2
Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia. ( 17916489 )
2007
3
Aplastic patella tissue in a patient with isolated patella aplasia-hypoplasia. ( 17022035 )
2006
4
Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia. ( 11857555 )
2002
5
Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature. ( 12471209 )
2002
6
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
7
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. ( 10882755 )
2000
8
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. ( 10417287 )
1999
9
Microtia, absent patellae, short stature, micrognathia syndrome. ( 1640440 )
1992
10
Absent patella and contralateral patella alta observed with scoliosis. ( 3189863 )
1988
11
Congenital defect of thumbnails. A dermatologic manifestation of a congenital syndrome including musculoskeletal defects, absent patellae, and renal dysplasia. ( 13761317 )
1961

Variations for Absent Patella

Expression for Absent Patella

Search GEO for disease gene expression data for Absent Patella.

Pathways for Absent Patella

GO Terms for Absent Patella

Sources for Absent Patella

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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