Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension (ICPPS)

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Disease Ontology 12 DOID:0111382 OMIM 56 147891 KEGG 36 H00461 MeSH 43 C535540 C536307 D001848 SNOMED-CT 67 720752007 ICD10 via Orphanet 33 Q74.1

UMLS via Orphanet 72 C1840061 C1868581 Orphanet 58 ORPHA1509 MedGen 41 C1840061 SNOMED-CT via HPO 68 203534009 237836003 263029007 263681008 27272007 32958008 48334007 52781008 53226007 63567004 74820003 87979003 93255008 more UMLS 71 C1840061 C1868581

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 stiff-person syndrome and surfactant dysfunction. An important gene associated with Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension is TBX4 (T-Box Transcription Factor 4). Affiliated tissues include bone, lung and kidney, 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: 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...

Clinical features from OMIM:

147891

Search Clinical Trials , NIH Clinical Center for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension

Search GEO for disease gene expression data for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension.