Disease #01547 (RIEG-1 (Axenfeld-Rieger syndrome, type 1 (RIEG-1)), OMIM:180500)

Official abbreviation RIEG-1
Name Axenfeld-Rieger syndrome, type 1 (RIEG-1)
OMIM ID 180500
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 34
Phenotype entries for this disease 33
Associated with 1 gene PITX2
Associated tissues -
Disease features -
Remarks -


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00025059 family PubMed: Zhao 2015 3-generation family, 4 affected - - China - - 0 - - RIEG-1 endocardial cushion defect, Axenfeld-Rieger syndrome PITX2 PITX2 1 4 Yi-Qing Yang
00029825 - - - M - - - - 0 - - RIEG-1 camptodactyly of the right fifth finger, clinodactyly of the left one, bilateral Simian creases,atrial and ventricular septal defects,omphalocele PITX2 PITX2 1 1 Moretza Seifi
00032453 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; ankyloglossia PITX2 PITX2 1 1 Elena Semina
00032454 - PubMed: Reis 2012 family - - - - - 0 - - RIEG-1 no heart defect PITX2 PITX2 1 3 Elena Semina
00032455 - PubMed: Reis 2012 child of Pat2A - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; developmental delay, hypertelorism, prominent forehead PITX2 PITX2 1 1 Elena Semina
00032456 - PubMed: Reis 2012 child of Pat2A - - - - - 0 - - RIEG-1 no heart defect; hearing loss PITX2 PITX2 1 1 Elena Semina
00032457 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss PITX2 PITX2 1 1 Elena Semina
00032458 - PubMed: Reis 2012 family - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; hypospadias PITX2 PITX2 1 2 Elena Semina
00032459 - PubMed: Reis 2012 child of Pat4A - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia, small mouth, hair whorl ankyloglossia, sacral dimple PITX2 PITX2 1 1 Elena Semina
00032460 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia, Imperforate anus, thin upper lip PITX2 PITX2 1 1 Elena Semina
00032461 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; mild developmental delay, short stature, failure to thrive, abnormal head size PITX2 PITX2 1 1 Elena Semina
00032462 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia, small mouth, high arched palate, hyperextensible joints; clinodactyly; narrow nails, lopped ears, prominent occiput PITX2 PITX2 1 1 Elena Semina
00032463 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 anomalous pulmonary venous return; no hearing loss; DD, short stature, failure to thrive PITX2 PITX2 1 1 Elena Semina
00032464 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; GD, nasal bridge anomaly, high arched palate, prognathia, smooth philtrum, long thin face, posteriorly rotated ears, microcephaly PITX2 PITX2 1 1 Elena Semina
00032465 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; Hypertelorism, Meckel's diverticulum PITX2 PITX2 1 1 Elena Semina
00032466 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia, microcephaly, thin upper lip, short philtrum, mild developmental delay, asymmetric ocular position PITX2 PITX2 1 1 Elena Semina
00032467 - PubMed: Maciolek 2006 2-generation family, isolated patient M - United States - - 0 - - RIEG-1 see paper PITX2 PITX2 1 1 Johan den Dunnen
00032468 - PubMed: Maciolek 2006 4-generation family, 7 affecteds (2F, 5M) - - United States - - 0 - - RIEG-1 see paper PITX2 PITX2 1 7 Johan den Dunnen
00032469 - PubMed: Maciolek 2006 4-generation family, 7 affecteds (6F) F - United States - - 0 - - RIEG-1 see paper PITX2 PITX2 1 6 Johan den Dunnen
00032470 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss PITX2 PITX2 1 1 Elena Semina
00032471 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia, prognathia, Meckel's diverticulum PITX2 PITX2 1 1 Elena Semina
00032472 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; Prognathia, Meckel's diverticulum, broad forehead PITX2 PITX2 1 1 Elena Semina
00032473 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss PITX2 PITX2 1 1 Elena Semina
00032474 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia PITX2 PITX2 1 1 Elena Semina
00032475 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; Inguinal hernia PITX2 PITX2 1 1 Elena Semina
00032476 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; small mouth, nasal bridge anomaly, anteriorly placed anus PITX2 PITX2 1 1 Elena Semina
00032477 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia, nasal bridge anomaly, low thyroid PITX2 PITX2 1 1 Elena Semina
00032478 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; micrognathia, abnormal ocular position, inguinal hernia, ulcerative colitis, diverticulitis, attention deficit hyperactivity disorder, micropenis, sleep disorder, transient ischemic attack, hypercholesterolinemia PITX2 PITX2 1 1 Elena Semina
00032479 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 ventricular septal defect; hearing loss; mild developmental delay, maxillary hypoplasia, thin upper lip, high arched palate, low-set ears PITX2 PITX2 1 1 Elena Semina
00032480 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; maxillary hypoplasia, ridged palate PITX2 PITX2 1 1 Elena Semina
00032481 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; PITX2 PITX2 1 1 Elena Semina
00032482 - PubMed: Reis 2012 - - - - - - 0 - - RIEG-1 no heart defect; no hearing loss; low hair line, developmental delay, autism, digit anomaly, thin upper lip PITX2 PITX2 1 1 Elena Semina
00151834 - - - M - Serbia - - 0 - - RIEG-1 - PITX2 PITX2 1 1 Elena Semina
00151835 - - - F - United States - - 0 - - RIEG-1 - PITX2 PITX2 1 1 Elena Semina
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