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:
expandAgenesis of Corpus Callosum (D061085)
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandProud Syndrome (C563110)

       Child Nodes:



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBladder Exstrophy (D001746) Child1
..expandCalabro syndrome (C537960)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9390
Name:Proud Syndrome
Definition:
Alternative IDs:OMIM:300004
ParentIDs:MESH:D008607|MESH:D014564|MESH:D040181|MESH:D061085
TreeNumbers:C10.500.034/C563110 |C10.597.606.643/C563110 |C12.706/C563110 |C13.351.875/C563110 |C16.131.666.034/C563110 |C16.131.939/C563110 |C16.320.322/C563110 |C23.300.008/C563110 |C23.888.592.604.646/C563110 |F03.550.600/C563110
Synonyms:ACC With Abnormal Genitalia |Corpus Callosum, Agenesis of, with Abnormal Genitalia |PROUD SYNDROME
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C563110
MeSH: C563110
OMIM: 300004;

Genes: ARX;
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001090Abnormally large globe
3 HP:0001274Agenesis of corpus callosum
4 HP:0000187Broad alveolar ridges
5 HP:0000280Coarse facial features
6 HP:0000028Cryptorchidism
7 HP:0001263Global developmental delay
8 HP:0000218High palate
9 HP:0001007Hirsutism
10 HP:0001795Hyperconvex nail
11 HP:0000047Hypospadias
12 HP:0006887Intellectual disability, progressive
13 HP:0010864Intellectual disability, severe
14 HP:0003121Limb joint contracture
15 HP:0000294Low anterior hairline
16 HP:0000252Microcephaly
17 HP:0001319Neonatal hypotonia
18 HP:0000639Nystagmus
19 HP:0000648Optic atrophy
20 HP:0001845Overlapping toe
21 HP:0000336Prominent supraorbital ridges
22 HP:0000411Protruding ear
23 HP:0000110Renal dysplasia
24 HP:0002650Scoliosis
25 HP:0001250Seizure
26 HP:0004322Short stature
27 HP:0002510Spastic tetraplegia
28 HP:0000486Strabismus
29 HP:0000664Synophrys
30 HP:0001182Tapered finger
31 HP:0002445Tetraplegia
32 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_139058.2(ARX):c.998C>A (p.Thr333Asn)170302ARXPathogenic104894745RCV000011951; RCV000145066; NMedGen:C0796124,OMIM:300004,ORPHA:2508; MedGen:CN221809X2503111425031114NM_139058.2:c.998C>ANP_620689.1:p.Thr333AsnNC_000023.10:g.25031114G>C,NC_000023.10:g.25031114G>TOMIM Allelic Variant:300382.0015CN221809 not provided; C0796124 300004 Proud Levine Carpenter syndrome