Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandFetal Macrosomia (D005320)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandHoloprosencephaly (D016142)
Parent Node:
expandPolydactyly (D017689)
Parent Node:
expandTrisomy (D014314)
..Starting node
..expandPseudotrisomy 13 syndrome (C535829)

       Child Nodes:



 Sister Nodes: 
..expand6q+ Syndrome, Partial (C537810)
..expandChromosome 1, duplication 1p21 p32 (C535364)
..expandChromosome 1, q42 11 q42 12 duplication (C538082)
..expandChromosome 1, trisomy 1q32 qter (C538083)
..expandChromosome 1, trisomy 1q42 qter (C538084)
..expandChromosome 1, uniparental disomy 1q12 q21 (C538085)
..expandChromosome 10, trisomy 10p (C538290)
..expandChromosome 10, trisomy 10pter p13 (C538291)
..expandChromosome 10, uniparental disomy of (C538292)
..expandChromosome 10q duplication syndrome (C537804)
..expandChromosome 11, partial trisomy 11q (C538294)
..expandChromosome 11q trisomy (C538297)
..expandChromosome 12, 12p trisomy (C538299)
..expandChromosome 12, trisomy 12q (C538300)
..expandChromosome 13p duplication (C535450)
..expandChromosome 13q trisomy (C535485)
..expandChromosome 14 trisomy (C535488)
..expandChromosome 14, trisomy mosaic (C535489)
..expandChromosome 14q, proximal duplication (C538032)
..expandChromosome 14q, terminal duplication (C538034)
..expandChromosome 15, trisomy mosaicism (C538037)
..expandChromosome 15q, trisomy (C538040)
..expandChromosome 16, trisomy (C538041)
..expandChromosome 16, trisomy 16q (C538042)
..expandChromosome 17 trisomy (C538044)
..expandChromosome 17, trisomy 17p (C538048)
..expandChromosome 17, trisomy 17p11 2 (C536578)
..expandChromosome 17, trisomy 17q22 (C536579)
..expandChromosome 18, trisomy 18p (C538307)
..expandChromosome 18, trisomy 18q (C538308)
..expandChromosome 19, trisomy 19q (C538311)
..expandChromosome 1q, duplication 1q12 q21 (C538312)
..expandChromosome 2, trisomy 2p (C538318)
..expandChromosome 2, trisomy 2p13 p21 (C535365)
..expandChromosome 2, trisomy 2pter p24 (C535366)
..expandChromosome 2, trisomy 2q (C535367)
..expandChromosome 2, trisomy 2q37 (C535368)
..expandChromosome 20, trisomy (C535372)
..expandChromosome 21, uniparental disomy of (C536794)
..expandChromosome 22, trisomy (C536799)
..expandChromosome 22, trisomy q11 q13 (C536800)
..expandChromosome 3 duplication syndrome (C536803)
..expandChromosome 3, trisomy 3p (C536811)
..expandChromosome 3, trisomy 3p25 (C536812)
..expandChromosome 3, trisomy 3q (C536813)
..expandChromosome 3, trisomy 3q13 2 q25 (C537634)
..expandChromosome 4, partial trisomy distal 4q (C537642)
..expandChromosome 4, trisomy 4q (C537644)
..expandChromosome 4, trisomy 4q21 (C537645)
..expandChromosome 4, trisomy 4q25 qter (C537646)
..expandChromosome 5, monosomy 5q35 (C537647)
..expandChromosome 5, trisomy 5pter p13 3 (C537649)
..expandChromosome 5, trisomy 5q (C537650)
..expandChromosome 5, uniparental disomy (C537762)
..expandChromosome 6, trisomy 6p (C537811)
..expandChromosome 6, trisomy 6q (C537812)
..expandChromosome 7, trisomy 7p (C537819)
..expandChromosome 7, trisomy 7p13 p12 2 (C537820)
..expandChromosome 7, trisomy 7q (C537821)
..expandChromosome 7, trisomy mosaic (C537822)
..expandChromosome 8, mosaic trisomy (C537940)
..expandChromosome 8, partial trisomy (C537941)
..expandChromosome 8, trisomy (C537942)
..expandChromosome 8, trisomy 8p (C538019)
..expandChromosome 8, trisomy 8q (C538020)
..expandChromosome 9, partial trisomy 9p (C538026)
..expandChromosome 9, trisomy (C538028)
..expandChromosome 9, trisomy 9p (C538029)
..expandChromosome 9, trisomy 9q (C538030)
..expandChromosome 9, trisomy 9q32 (C535453)
..expandChromosome 9, trisomy mosaic (C535454)
..expandChromosome Xq duplication syndrome (C536732)
..expandDistal Trisomy 10q Syndrome (C538087)
..expandDuplication 4p Syndrome (C537643)
..expandPartial Duplication 15q Syndrome (C538036)
..expandPartial Trisomy 3q Syndrome (C537635)
..expandPatau syndrome (C536305)
..expandPseudotrisomy 13 syndrome (C535829)
..expandTriple X syndrome (C535318)
..expandTrisomy 18 (C580500)
..expandTrisomy 18-Like Syndrome (C563382)
..expandTrisomy 20p (C535371)
..expandTrisomy 22 mosaicism syndrome (C536796)
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandX chromosome, duplication Xq13 1 q21 1 (C536753)
..expandX chromosome, trisomy Xp3 (C536756)
..expandX chromosome, trisomy Xpter Xq13 (C536731)
..expandX chromosome, trisomy Xq25 (C536733)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9435
Name:Pseudotrisomy 13 syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D005320|MESH:D006228|MESH:D014314|MESH:D016142|MESH:D017689
TreeNumbers:C05.390.408/C535829 |C05.660.207.410/C535829 |C05.660.585.600/C535829 |C05.660.585.988.425/C535829 |C10.500.034.875/C535829 |C13.703.170.500/C535829 |C13.703.277.570/C535829 |C13.703.726.570/C535829 |C16.131.077.410/C535829 |C16.131.260.380/C535829 |C16.131.621.20
Synonyms:Holoprosencephaly polydactyly syndrome |Holoprosencephaly-Polydactyly Syndrome |Pseudo trisomy 13 syndrome
Slim Mappings:Congenital abnormality|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication|Signs and symptoms
Reference: MedGen: C535829
MeSH: C535829
OMIM: 264480;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:000087811 pairs of ribs
3 HP:00046912-3 toe syndactyly
4 HP:0002086Abnormality of the respiratory system
5 HP:0000835Adrenal hypoplasia
6 HP:0001274Agenesis of corpus callosum
7 HP:0002023Anal atresia
8 HP:0001631Atrial septal defect
9 HP:0000813Bicornuate uterus
10 HP:0001321Cerebellar hypoplasia
11 HP:0001680Coarctation of aorta
12 HP:0001674Complete atrioventricular canal defect
13 HP:0000028Cryptorchidism
14 HP:0009914CyclopiaHP:0040283
15 HP:0001651Dextrocardia
16 HP:0002084Encephalocele
17 HP:0001290Generalized hypotonia
18 HP:0002937Hemivertebrae
19 HP:0001360Holoprosencephaly
20 HP:0000238Hydrocephalus
21 HP:0000601Hypotelorism
22 HP:0001252Hypotonia
23 HP:0000369Low-set ears
24 HP:0008501Median cleft lip and palate
25 HP:0000252Microcephaly
26 HP:0000054Micropenis
27 HP:0000568Microphthalmia
28 HP:0001539Omphalocele
29 HP:0002126Polymicrogyria
30 HP:0001830Postaxial foot polydactyly
31 HP:0001162Postaxial hand polydactyly
32 HP:0000358Posteriorly rotated ears
33 HP:0000104Renal agenesis
34 HP:0000089Renal hypoplasia
35 HP:0011662Tricuspid atresia
36 HP:0000582Upslanted palpebral fissure
37 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants