MCID: PTL010
MIFTS: 22

Patella Aplasia-Hypoplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Patella Aplasia-Hypoplasia

MalaCards integrated aliases for Patella Aplasia-Hypoplasia:

Name: Patella Aplasia-Hypoplasia 54
Aplasia/hypoplasia of the Patella 29
Patella Aplasia or Hypoplasia 13
Patella Aplasia/hypoplasia 56
Ptlah 56

Characteristics:

Orphanet epidemiological data:

56
patella aplasia/hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
patella aplasia-hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 168860
Orphanet 56 ORPHA86789
MESH via Orphanet 43 C535568
UMLS via Orphanet 70 C1868577
ICD10 via Orphanet 34 Q74.1

Summaries for Patella Aplasia-Hypoplasia

MalaCards based summary : Patella Aplasia-Hypoplasia, also known as aplasia/hypoplasia of the patella, is related to patella aplasia/hypoplasia, unilateral and patella aplasia/hypoplasia, bilateral, and has symptoms including patellar aplasia, patellar hypoplasia and abnormality of the skin. An important gene associated with Patella Aplasia-Hypoplasia is PTLAH (Patella Aplasia-Hypoplasia). Affiliated tissues include bone and skin.

Description from OMIM: 168860

Related Diseases for Patella Aplasia-Hypoplasia

Diseases related to Patella Aplasia-Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
id Related Disease Score Top Affiliating Genes
1 patella aplasia/hypoplasia, unilateral 12.1
2 patella aplasia/hypoplasia, bilateral 12.1
3 absent patella 11.7
4 ischiocoxopodopatellar syndrome 11.1
5 meier-gorlin syndrome 1 11.0
6 meier-gorlin syndrome 2 11.0
7 meier-gorlin syndrome 6 11.0
8 meier-gorlin syndrome 3 11.0
9 meier-gorlin syndrome 4 11.0
10 meier-gorlin syndrome 5 11.0
11 meier-gorlin syndrome 7 11.0
12 aniridia and absent patella 11.0
13 nail-patella syndrome 10.0

Graphical network of the top 20 diseases related to Patella Aplasia-Hypoplasia:



Diseases related to Patella Aplasia-Hypoplasia

Symptoms & Phenotypes for Patella Aplasia-Hypoplasia

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Limbs:
patellar aplasia
patellar hypoplasia

Skin Nails & Hair- Skin:
knee dimple


Clinical features from OMIM:

168860

Human phenotypes related to Patella Aplasia-Hypoplasia:

32
id Description HPO Frequency HPO Source Accession
1 patellar aplasia 32 HP:0006443
2 patellar hypoplasia 32 HP:0003065
3 abnormality of the skin 32 HP:0000951

Drugs & Therapeutics for Patella Aplasia-Hypoplasia

Interventional clinical trials:


id 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 Patella Aplasia-Hypoplasia

Genetic Tests for Patella Aplasia-Hypoplasia

Genetic tests related to Patella Aplasia-Hypoplasia:

id Genetic test Affiliating Genes
1 Aplasia/hypoplasia of the Patella 29

Anatomical Context for Patella Aplasia-Hypoplasia

MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:

39
Bone, Skin

Publications for Patella Aplasia-Hypoplasia

Articles related to Patella Aplasia-Hypoplasia:

id Title Authors Year
1
Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia. ( 17916489 )
2007
2
Aplastic patella tissue in a patient with isolated patella aplasia-hypoplasia. ( 17022035 )
2006
3
Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia. ( 11857555 )
2002
4
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
5
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. ( 10417287 )
1999

Variations for Patella Aplasia-Hypoplasia

Expression for Patella Aplasia-Hypoplasia

Search GEO for disease gene expression data for Patella Aplasia-Hypoplasia.

Pathways for Patella Aplasia-Hypoplasia

GO Terms for Patella Aplasia-Hypoplasia

Sources for Patella Aplasia-Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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