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ICPPS
MCID: ISC020
MIFTS: 54
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Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension (ICPPS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:
Characteristics:Orphanet epidemiological data:58
coxopodopatellar syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; HPO:31
ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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NIH Rare Diseases :
52
Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic ). The hip (pelvic ) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. Small patella syndrome is caused by a change (pathogenic variant or mutation ) in the TBX4 gene . The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays . Diagnosis of SPS can be confirmed with genetic testing . Treatment of SPS may include pain management with medications, physical and occupational therapies , and surgical treatments.
MalaCards based summary : Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension, also known as ischiopatellar dysplasia, is related to surfactant dysfunction and ventilation pneumonitis. An important gene associated with Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension is TBX4 (T-Box Transcription Factor 4), and among its related pathways/superpathways are Neuroscience and Alzheimers Disease. Affiliated tissues include bone and testes, and related phenotypes are abnormality of epiphysis morphology and aplasia/hypoplasia of the patella Disease Ontology : 12 A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has material basis in heterozygous mutation in TBX4 on chromosome 17q23.2. OMIM : 56 Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). (147891) KEGG : 36 Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients. UniProtKB/Swiss-Prot : 73 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension: An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. Wikipedia : 74 Ischiopatellar dysplasia is a rare autosomal dominant disorder characterized by a hypoplasia of the... more... |
Human phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:147891GenomeRNAi Phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:45
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Cochrane evidence based reviews: ischiopatellar dysplasia |
MalaCards organs/tissues related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:40
Bone,
Testes
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Articles related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:(show all 17)
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Genes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension (1 elite genes):(show all 30) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:6 (show top 50) (show all 78)
UniProtKB/Swiss-Prot genetic disease variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:73
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Search
GEO
for disease gene expression data for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension.
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Pathways related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:(show all 17)
Biological processes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:
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