MCID: PTL010
MIFTS: 24

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 53
Patella Aplasia or Hypoplasia 53 13
Ptlah 53 55
Aplasia/hypoplasia of the Patella 28
Patella Aplasia/hypoplasia 55

Characteristics:

Orphanet epidemiological data:

55
patella aplasia/hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
patella aplasia-hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 168860
Orphanet 55 ORPHA86789
MESH via Orphanet 42 C535568
UMLS via Orphanet 70 C1868577
ICD10 via Orphanet 33 Q74.1
MedGen 39 C1868577
SNOMED-CT via HPO 65 263681008 199879009 95320005

Summaries for Patella Aplasia-Hypoplasia

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

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 14)
# Related Disease Score Top Affiliating Genes
1 patella aplasia/hypoplasia, unilateral 12.2
2 patella aplasia/hypoplasia, bilateral 12.2
3 absent patella 11.8
4 ischiocoxopodopatellar syndrome 11.5
5 meier-gorlin syndrome 1 11.1
6 meier-gorlin syndrome 2 11.1
7 meier-gorlin syndrome 3 11.1
8 meier-gorlin syndrome 4 11.1
9 meier-gorlin syndrome 5 11.1
10 meier-gorlin syndrome 6 11.1
11 meier-gorlin syndrome 7 11.1
12 meier-gorlin syndrome 8 11.1
13 aniridia and absent patella 11.1
14 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:

53
Skeletal Limbs:
patellar aplasia
patellar hypoplasia

Skin Nails Hair Skin:
knee dimple


Clinical features from OMIM:

168860

Human phenotypes related to Patella Aplasia-Hypoplasia:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 31 HP:0000951
2 patellar aplasia 31 HP:0006443
3 patellar hypoplasia 31 HP:0003065

Drugs & Therapeutics for Patella Aplasia-Hypoplasia

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 Patella Aplasia-Hypoplasia

Genetic Tests for Patella Aplasia-Hypoplasia

Genetic tests related to Patella Aplasia-Hypoplasia:

# Genetic test Affiliating Genes
1 Aplasia/hypoplasia of the Patella 28

Anatomical Context for Patella Aplasia-Hypoplasia

MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:

38
Skin, Bone

Publications for Patella Aplasia-Hypoplasia

Articles related to Patella Aplasia-Hypoplasia:

# 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
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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