Patella Aplasia-Hypoplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of limb(s)

Congenital malformation of knee

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

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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

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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
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:

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Symptoms & Phenotypes for Patella Aplasia-Hypoplasia

Human phenotypes related to Patella Aplasia-Hypoplasia:

³¹

#	Description	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

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Drugs & Therapeutics for Patella Aplasia-Hypoplasia

Search Clinical Trials , 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

MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:

⁴⁰

Bone, Skin

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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	Bongers EM...Woods CG	11857555	2002
2	Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. ⁶¹ ⁵⁶	Mangino M...Dallapiccola B	10417287	1999
3	Mutations in the human TBX4 gene cause small patella syndrome. ⁵⁶	Bongers EM...van Bokhoven H	15106123	2004
4	Familial aplasia or hypoplasia of the patella. ⁵⁶	Braun HS	657574	1978
5	Familial absence of the patella. ⁵⁶	Bernhang AM...Levine SA	4760095	1973
6	Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia. ⁶¹	Nomura E...Kobayashi S	17916489	2007
7	Aplastic patella tissue in a patient with isolated patella aplasia-hypoplasia. ⁶¹	Nomura E...Kobayashi S	17022035	2006
8	Human syndromes with congenital patellar anomalies and the underlying gene defects. ⁶¹	Bongers EM...Knoers NV	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	Bongers EM...Hamel BC	11303519	2001

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Genes for Patella Aplasia-Hypoplasia

Genes related to Patella Aplasia-Hypoplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PTLAH	Patella Aplasia-Hypoplasia	Genetic Locus	68.04	Genetic linkage ⁵⁶ GeneCards inferred via : Publications Gene name (show sections)

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Variations for Patella Aplasia-Hypoplasia

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Expression for Patella Aplasia-Hypoplasia

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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⁶⁸ SNOMED-CT via HPO

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Patella Aplasia-Hypoplasia (PTLAH)

Aliases & Classifications for Patella Aplasia-Hypoplasia

MalaCards integrated aliases for Patella Aplasia-Hypoplasia:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Patella Aplasia-Hypoplasia

Related Diseases for Patella Aplasia-Hypoplasia

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

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

Symptoms & Phenotypes for Patella Aplasia-Hypoplasia

Human phenotypes related to Patella Aplasia-Hypoplasia:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Patella Aplasia-Hypoplasia

Genetic Tests for Patella Aplasia-Hypoplasia

Anatomical Context for Patella Aplasia-Hypoplasia

MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:

Publications for Patella Aplasia-Hypoplasia

Articles related to Patella Aplasia-Hypoplasia:

Genes for Patella Aplasia-Hypoplasia

Genes related to Patella Aplasia-Hypoplasia (1 elite genes):

Variations for Patella Aplasia-Hypoplasia

Expression for Patella Aplasia-Hypoplasia

Pathways for Patella Aplasia-Hypoplasia

GO Terms for Patella Aplasia-Hypoplasia

Sources for Patella Aplasia-Hypoplasia