PTLAH
MCID: PTL010
MIFTS: 19

Patella Aplasia-Hypoplasia (PTLAH)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Patella Aplasia-Hypoplasia

MalaCards integrated aliases for Patella Aplasia-Hypoplasia:

Name: Patella Aplasia-Hypoplasia 57
Patella Aplasia or Hypoplasia 57 13
Ptlah 57 59
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:



External Ids:

OMIM 57 168860
MESH via Orphanet 45 C535568
ICD10 via Orphanet 34 Q74.1
UMLS via Orphanet 73 C1868577
Orphanet 59 ORPHA86789
MedGen 42 C1868577

Summaries for Patella Aplasia-Hypoplasia

MalaCards based summary : Patella Aplasia-Hypoplasia, also known as patella aplasia or hypoplasia, is related to obsolete: patella aplasia/hypoplasia, unilateral and obsolete: patella aplasia/hypoplasia, bilateral. 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

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 obsolete: patella aplasia/hypoplasia, unilateral 12.6
2 obsolete: patella aplasia/hypoplasia, bilateral 12.6
3 absent patella 12.3
4 aniridia and absent patella 11.4
5 nail-patella syndrome 10.4
6 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.2

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:

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
patellar aplasia
patellar hypoplasia

Skin Nails Hair Skin:
knee dimple

Clinical features from OMIM:

168860

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

MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:

41
Skin, Bone

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. 38 8
11857555 2002
2
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. 38 8
10417287 1999
3
Mutations in the human TBX4 gene cause small patella syndrome. 8
15106123 2004
4
Familial aplasia or hypoplasia of the patella. 8
657574 1978
5
Familial absence of the patella. 8
4760095 1973
6
Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia. 38
17916489 2007
7
Aplastic patella tissue in a patient with isolated patella aplasia-hypoplasia. 38
17022035 2006
8
Human syndromes with congenital patellar anomalies and the underlying gene defects. 38
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. 38
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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