MCID: ABS007
MIFTS: 14

Absent Patella

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Absent Patella

MalaCards integrated aliases for Absent Patella:

Name: Absent Patella 49
Familial Absence of the Patella 49
Familial Aplasia of the Patella 49
Patella Aplasia-Hypoplasia 49
Ptlah 49

Classifications:



Summaries for Absent Patella

NIH Rare Diseases : 49 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. Last updated: 2/29/2012

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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 patella aplasia-hypoplasia 12.4
2 aniridia and absent patella 12.4
3 patella aplasia/hypoplasia, unilateral 12.2
4 patella aplasia/hypoplasia, bilateral 12.2
5 meier-gorlin syndrome 1 11.8
6 genitopatellar syndrome 11.8
7 ischiocoxopodopatellar syndrome 11.5
8 singh chhaparwal dhanda syndrome 11.1
9 nail-patella syndrome 10.0
10 scoliosis 9.8
11 renal dysplasia 9.8
12 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:

38
Bone

Publications for Absent Patella

Articles related to Absent Patella:

# Title Authors Year
1
Isolated unilateral absent patella and contralateral small patella. ( 24001732 )
2013
2
Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature. ( 12471209 )
2002
3
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. ( 10882755 )
2000
4
Microtia, absent patellae, short stature, micrognathia syndrome. ( 1640440 )
1992
5
Absent patella and contralateral patella alta observed with scoliosis. ( 3189863 )
1988
6
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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