PTLAH
MCID: PTL010
MIFTS: 22
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Patella Aplasia-Hypoplasia (PTLAH)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Patella Aplasia-Hypoplasia:
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; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
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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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Diseases related to Patella Aplasia-Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:(show all 19)
Graphical network of the top 20 diseases related to Patella Aplasia-Hypoplasia:![]() |
Human phenotypes related to Patella Aplasia-Hypoplasia:31
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MalaCards organs/tissues related to Patella Aplasia-Hypoplasia:40
Bone,
Skin
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Articles related to Patella Aplasia-Hypoplasia:
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Search
GEO
for disease gene expression data for Patella Aplasia-Hypoplasia.
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