Disease #01547 (RIEG1 (Axenfeld-Rieger syndrome, type 1 (RIEG1)), OMIM:180500)

Official abbreviation RIEG1
Name Axenfeld-Rieger syndrome, type 1 (RIEG1)
OMIM ID 180500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 35
Phenotype entries for this disease 33
Associated with 1 gene PITX2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

35 entries on 1 page. Showing entries 1 - 35.
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00025059 family PubMed: Zhao 2015 3-generation family, 4 affected - - China - - - - - RIEG1 endocardial cushion defect, Axenfeld-Rieger syndrome PITX2 PITX2 1 4 Yi-Qing Yang
00029825 - - - M - - - - - - - RIEG1 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 - - - - - - - - - RIEG1 no heart defect; no hearing loss; ankyloglossia; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, microcornea; microdontia, dental anomaly PITX2 PITX2 1 1 Elena Semina
00032454 - PubMed: Reis 2012 family - - - - - - - - RIEG1 no heart defect; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia PITX2 PITX2 1 3 Elena Semina
00032455 - PubMed: Reis 2012 child of Pat2A - - - - - - - - RIEG1 no heart defect; no hearing loss; developmental delay, hypertelorism, prominent forehead; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia PITX2 PITX2 1 1 Elena Semina
00032456 - PubMed: Reis 2012 child of Pat2A - - - - - - - - RIEG1 no heart defect; hearing loss; omphalocele (HP:0001539); Axenfeld-Rieger syndrome PITX2 PITX2 1 1 Elena Semina
00032457 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome; hypodontia PITX2 PITX2 1 1 Elena Semina
00032458 - PubMed: Reis 2012 family - - - - - - - - RIEG1 no heart defect; no hearing loss; hypospadias; redundant umbilical skin; Axenfeld-Rieger syndrome, glaucoma, vascular loops; hypodontia PITX2 PITX2 1 2 Elena Semina
00032459 - PubMed: Reis 2012 child of Pat4A - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, small mouth, hair whorl ankyloglossia, sacral dimple; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome PITX2 PITX2 1 1 Elena Semina
00032460 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, Imperforate anus, thin upper lip; redundant umbilical skin; Axenfeld-Rieger syndrome, aniso-metropia; hypodontia, microdontia PITX2 PITX2 1 1 Elena Semina
00032461 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; mild developmental delay, short stature, failure to thrive, abnormal head size; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia PITX2 PITX2 1 1 Elena Semina
00032462 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, small mouth, high arched palate, hyperextensible joints; clinodactyly; narrow nails, lopped ears, prominent occiput; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia, microdontia PITX2 PITX2 1 1 Elena Semina
00032463 - PubMed: Reis 2012 - - - - - - - - - RIEG1 anomalous pulmonary venous return; no hearing loss; DD, short stature, failure to thrive; redundant umbilical skin; strabismus, amblyopia; hypodontia PITX2 PITX2 1 1 Elena Semina
00032464 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; GD, nasal bridge anomaly, high arched palate, prognathia, smooth philtrum, long thin face, posteriorly rotated ears, microcephaly; umbilical hernia (HP:0001537); Peters anomaly, nystagmus, esotropia; normal teeth PITX2 PITX2 1 1 Elena Semina
00032465 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; Hypertelorism, Meckel's diverticulum; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome; hypodontia, delayed eruption PITX2 PITX2 1 1 Elena Semina
00032466 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, microcephaly, thin upper lip, short philtrum, mild developmental delay, asymmetric ocular position; redundant umbilical skin; Axenfeld-Rieger syndrome, myopia; hypodontia, microdontia PITX2 PITX2 1 1 Elena Semina
00032467 - PubMed: Maciolek 2006 2-generation family, isolated patient M - United States - - - - - RIEG1 see paper PITX2 PITX2 1 1 Johan den Dunnen
00032468 - PubMed: Maciolek 2006 4-generation family, 7 affecteds (2F, 5M) - - United States - - - - - RIEG1 see paper PITX2 PITX2 1 7 Johan den Dunnen
00032469 - PubMed: Maciolek 2006 4-generation family, 7 affecteds (6F) F - United States - - - - - RIEG1 see paper PITX2 PITX2 1 6 Johan den Dunnen
00032470 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; abnormality umbilicus (HP:0001551); Axenfeld-Rieger syndrome; dental anomaly PITX2 PITX2 1 1 Elena Semina
00032471 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, prognathia, Meckel's diverticulum; redundant umbilical skin; Axenfeld-Rieger syndrome, microcornea; hypodontia, microdontia PITX2 PITX2 1 1 Elena Semina
00032472 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; Prognathia, Meckel's diverticulum, broad forehead; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, glaucoma; hypodontia PITX2 PITX2 1 1 Elena Semina
00032473 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; redundant umbilical skin; Peters anomaly PITX2 PITX2 1 1 Elena Semina
00032474 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia; no umbilical anomalies; Axenfeld-Rieger syndrome, glaucoma; hypodontia, persistent primary teeth PITX2 PITX2 1 1 Elena Semina
00032475 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; Inguinal hernia; redundant umbilical skin; Axenfeld-Rieger syndrome, cataract, congenital glaucoma, Peters anomaly nystagmus; hypodontia PITX2 PITX2 1 1 Elena Semina
00032476 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; small mouth, nasal bridge anomaly, anteriorly placed anus; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome PITX2 PITX2 1 1 Elena Semina
00032477 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, nasal bridge anomaly, low thyroid; redundant umbilical skin; Axenfeld-Rieger syndrome, glaucoma; hypodontia, microdontia PITX2 PITX2 1 1 Elena Semina
00032478 - PubMed: Reis 2012 - - - - - - - - - RIEG1 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; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, myopia (−12; −8), missing eye muscles (L), astigmatism; hypodontia, persistent primary teeth PITX2 PITX2 1 1 Elena Semina
00032479 - PubMed: Reis 2012 - - - - - - - - - RIEG1 ventricular septal defect; hearing loss; mild developmental delay, maxillary hypoplasia, thin upper lip, high arched palate, low-set ears; redundant umbilical skin; Axenfeld-Rieger syndrome, congenital glaucoma, cataract, severe iris hypoplasia/aniridia; natal tooth PITX2 PITX2 1 1 Elena Semina
00032480 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, ridged palate; omphalocele (HP:0001539); Axenfeld-Rieger syndrome; hypodontia, microdontia PITX2 PITX2 1 1 Elena Semina
00032481 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss;; no umbilical anomalies; Axenfeld-Rieger syndrome, glaucoma, retinal detachment; dental anomaly PITX2 PITX2 1 1 Elena Semina
00032482 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; low hair line, developmental delay, autism, digit anomaly, thin upper lip; Axenfeld-Rieger syndrome, blue sclerae; microdontia PITX2 PITX2 1 1 Elena Semina
00151834 - - - M - Serbia - - - - - RIEG1 - PITX2 PITX2 1 1 Elena Semina
00151835 - - - F - United States - - - - - RIEG1 - PITX2 PITX2 1 1 Elena Semina
00381548 - - - - - - - - - - - RIEG1 - PITX2 PITX2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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