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PTLAH
MCID: PTL010
MIFTS: 23

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 57
Patella Aplasia or Hypoplasia 57 13
Ptlah 57 59
Aplasia/hypoplasia of the Patella 29
Patella Aplasia/hypoplasia 59

Characteristics:

Orphanet epidemiological data:

59
patella aplasia/hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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: 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 168860
Orphanet 59 ORPHA86789
ICD10 via Orphanet 34 Q74.1
MESH via Orphanet 45 C535568
UMLS via Orphanet 74 C1868577
MedGen 42 C1868577
SNOMED-CT via HPO 69 263681008 199879009 95320005
Sources

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 meier-gorlin syndrome 1. 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
Sources

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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 absent patella 12.0
2 meier-gorlin syndrome 1 11.3
3 meier-gorlin syndrome 2 11.3
4 meier-gorlin syndrome 3 11.3
5 meier-gorlin syndrome 4 11.3
6 meier-gorlin syndrome 5 11.3
7 meier-gorlin syndrome 6 11.3
8 meier-gorlin syndrome 7 11.3
9 meier-gorlin syndrome 8 11.3
10 aniridia and absent patella 11.2
11 perrault syndrome 1 11.1
12 ischiocoxopodopatellar syndrome 10.2
13 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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Symptoms via clinical synopsis from OMIM:

57
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
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951
2 patellar aplasia 32 HP:0006443
3 patellar hypoplasia 32 HP:0003065
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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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Genetic tests related to Patella Aplasia-Hypoplasia:

# Genetic test Affiliating Genes
1 Aplasia/hypoplasia of the Patella 29
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Anatomical Context for Patella Aplasia-Hypoplasia

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MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:

41
Skin, Bone
Sources

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 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
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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