PTLAH
MCID: PTL010
MIFTS: 20

Patella Aplasia-Hypoplasia (PTLAH)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Patella Aplasia-Hypoplasia

MalaCards integrated aliases for Patella Aplasia-Hypoplasia:

Name: Patella Aplasia-Hypoplasia 57 20
Ptlah 57 20 58
Patella Aplasia or Hypoplasia 57 13
Familial Absence of the Patella 20
Familial Aplasia of the Patella 20
Patella Aplasia/hypoplasia 58
Absent Patella 20

Characteristics:

Orphanet epidemiological data:

58
patella aplasia/hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
patella aplasia-hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 168860
MESH via Orphanet 45 C535568
ICD10 via Orphanet 33 Q74.1
UMLS via Orphanet 72 C1868577
Orphanet 58 ORPHA86789
MedGen 41 C1868577
SNOMED-CT via HPO 68 199879009 263681008 95320005

Summaries for Patella Aplasia-Hypoplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 86789DefinitionIsolated 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.

MalaCards based summary : Patella Aplasia-Hypoplasia, also known as ptlah, is related to aniridia and absent patella and laurin-sandrow syndrome. An important gene associated with Patella Aplasia-Hypoplasia is PTLAH (Patella Aplasia-Hypoplasia). Related phenotypes are abnormality of the skin and patellar aplasia

More information 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:

# Related Disease Score Top Affiliating Genes
1 aniridia and absent patella 11.2
2 laurin-sandrow syndrome 11.0
3 nail-patella syndrome 10.3
4 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.0
5 scoliosis 9.9

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



Diseases related to Patella Aplasia-Hypoplasia

Symptoms & Phenotypes for Patella Aplasia-Hypoplasia

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Limbs:
patellar aplasia
patellar hypoplasia

Skin Nails Hair Skin:
knee dimple

Clinical features from OMIM®:

168860 (Updated 05-Mar-2021)

Drugs & Therapeutics for Patella Aplasia-Hypoplasia

Search Clinical Trials , NIH Clinical Center for Patella Aplasia-Hypoplasia

Genetic Tests for Patella Aplasia-Hypoplasia

Anatomical Context for Patella Aplasia-Hypoplasia

Publications for Patella Aplasia-Hypoplasia

Articles related to Patella Aplasia-Hypoplasia:

# Title Authors PMID Year
1
Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia. 61 57
11857555 2002
2
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. 61 57
10417287 1999
3
Mutations in the human TBX4 gene cause small patella syndrome. 57
15106123 2004
4
Familial aplasia or hypoplasia of the patella. 57
657574 1978
5
Familial absence of the patella. 57
4760095 1973
6
Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia. 61
17916489 2007
7
Aplastic patella tissue in a patient with isolated patella aplasia-hypoplasia. 61
17022035 2006
8
Human syndromes with congenital patellar anomalies and the underlying gene defects. 61
16143015 2005
9
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. 61
11303519 2001

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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