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PTLAH
MCID: PTL010
MIFTS: 20

Patella Aplasia-Hypoplasia (PTLAH)

Categories: Bone diseases, Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Patella Aplasia-Hypoplasia

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MalaCards integrated aliases for Patella Aplasia-Hypoplasia:

Name: Patella Aplasia-Hypoplasia 58
Patella Aplasia or Hypoplasia 58 13
Ptlah 58 60
Patella Aplasia/hypoplasia 60

Characteristics:

Orphanet epidemiological data:

60
patella aplasia/hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
patella aplasia-hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 58 168860
MESH via Orphanet 46 C535568
ICD10 via Orphanet 35 Q74.1
UMLS via Orphanet 75 C1868577
Orphanet 60 ORPHA86789
MedGen 43 C1868577
SNOMED-CT via HPO 70 199879009 263681008 95320005
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Summaries for Patella Aplasia-Hypoplasia

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MalaCards based summary : Patella Aplasia-Hypoplasia, also known as patella aplasia or hypoplasia, is related to absent patella and aniridia and absent patella. An important gene associated with Patella Aplasia-Hypoplasia is PTLAH (Patella Aplasia-Hypoplasia). Affiliated tissues include skin and bone, and related phenotypes are abnormality of the skin and patellar aplasia

Description from OMIM: 168860
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Related Diseases for Patella Aplasia-Hypoplasia

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

# Related Disease Score Top Affiliating Genes
1 absent patella 12.0
2 aniridia and absent patella 11.3
3 cone-rod dystrophy and hearing loss 2 11.1
4 ischiocoxopodopatellar syndrome 10.2
5 nail-patella syndrome 10.2

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



Diseases related to Patella Aplasia-Hypoplasia
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Symptoms & Phenotypes for Patella Aplasia-Hypoplasia

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Human phenotypes related to Patella Aplasia-Hypoplasia:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 33 HP:0000951
2 patellar aplasia 33 HP:0006443
3 patellar hypoplasia 33 HP:0003065

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
patellar aplasia
patellar hypoplasia

Skin Nails Hair Skin:
knee dimple

Clinical features from OMIM:

168860
Sources

Drugs & Therapeutics for Patella Aplasia-Hypoplasia

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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

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Genetic Tests for Patella Aplasia-Hypoplasia

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Anatomical Context for Patella Aplasia-Hypoplasia

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MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:

42
Skin, Bone
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Publications for Patella Aplasia-Hypoplasia

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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
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Variations for Patella Aplasia-Hypoplasia

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Expression for Patella Aplasia-Hypoplasia

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

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GO Terms for Patella Aplasia-Hypoplasia

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Sources for Patella Aplasia-Hypoplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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