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 genitopatellar syndrome and singh chhaparwal dhanda syndrome. 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 19)

#	Related Disease	Score
1	genitopatellar syndrome	12.1
2	singh chhaparwal dhanda syndrome	11.7
3	meier-gorlin syndrome 1	11.7
4	aniridia and absent patella	11.4
5	laurin-sandrow syndrome	11.2
6	nail-patella syndrome	10.4
7	ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	10.2
8	cryptorchidism, unilateral or bilateral	10.1
9	strabismus	10.0
10	brachydactyly	10.0
11	scoliosis	10.0
12	microcephaly	10.0
13	hydronephrosis	10.0
14	mechanical strabismus	10.0
15	pathologic nystagmus	10.0
16	kat6b disorders	10.0
17	dwarfism	10.0
18	renal dysplasia	10.0
19	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. ⁵⁶ ⁶¹	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	67.62	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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⁷¹ UMLS

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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