PTLAH
MCID: PTL010
MIFTS: 22

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 56 52
Ptlah 56 52 58
Patella Aplasia or Hypoplasia 56 13
Familial Absence of the Patella 52
Familial Aplasia of the Patella 52
Patella Aplasia/hypoplasia 58
Absent Patella 52

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:

56
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 56 168860
MESH via Orphanet 44 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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86789 Definition Isolated 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 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 bone and skin, 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:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 obsolete: patella aplasia/hypoplasia, unilateral 12.6
2 obsolete: patella aplasia/hypoplasia, bilateral 12.6
3 genitopatellar syndrome 12.1
4 singh chhaparwal dhanda syndrome 11.7
5 meier-gorlin syndrome 1 11.7
6 aniridia and absent patella 11.4
7 nail-patella syndrome 10.4
8 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.2
9 cryptorchidism, unilateral or bilateral 10.1
10 strabismus 10.0
11 brachydactyly 10.0
12 scoliosis 10.0
13 microcephaly 10.0
14 hydronephrosis 10.0
15 mechanical strabismus 10.0
16 pathologic nystagmus 10.0
17 kat6b-related disorders 10.0
18 dwarfism 10.0
19 renal dysplasia 10.0
20 microtia 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

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:

56
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:

40
Bone, Skin

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 56
11857555 2002
2
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. 61 56
10417287 1999
3
Mutations in the human TBX4 gene cause small patella syndrome. 56
15106123 2004
4
Familial aplasia or hypoplasia of the patella. 56
657574 1978
5
Familial absence of the patella. 56
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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