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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandFoot Deformities, Congenital (D005532)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandHand foot uterus syndrome (C535627)

       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:4890
Name:Hand foot uterus syndrome
Definition:
Alternative IDs:OMIM:140000
ParentIDs:MESH:D000015|MESH:D005532|MESH:D006228|MESH:D014564
TreeNumbers:C05.330.495/C535627 |C05.390.408/C535627 |C05.660.585.512.380/C535627 |C05.660.585.988.425/C535627 |C12.706/C535627 |C13.351.875/C535627 |C16.131.077/C535627 |C16.131.621.585.380/C535627 |C16.131.621.585.425/C535627 |C16.131.939/C535627
Synonyms:Hand foot genital syndrome |Hand-Foot-Genital Syndrome |Hand-Foot-Uterus Syndrome |HFG |HFG Syndrome |HFU |HFU Syndrome
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C535627
MeSH: C535627
OMIM: 140000;

Genes: HOXA13;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000048Bifid scrotum
3 HP:0001156Brachydactyly
4 HP:0000041Chordee
5 HP:0004209Clinodactyly of the 5th finger
6 HP:0001216Delayed ossification of carpal bones
7 HP:0008103Delayed tarsal ossification
8 HP:0008080Hallux varus
9 HP:0000047Hypospadias
10 HP:0008740Longitudinal vaginal septum
11 HP:0000054Micropenis
12 HP:0009623Proximal placement of thumb
13 HP:0010584Pseudoepiphyses
14 HP:0000083Renal insufficiency
15 HP:0010034Short 1st metacarpal
16 HP:0001885Short 2nd toe
17 HP:0009237Short 5th finger
18 HP:0010105Short first metatarsal
19 HP:0010109Short hallux
20 HP:0006110Shortening of all middle phalanges of the fingers
21 HP:0001245Small thenar eminence
22 HP:0009464Ulnar deviation of the 2nd finger
23 HP:0000074Ureteropelvic junction obstruction
24 HP:0003762Uterus didelphys
25 HP:0000076Vesicoureteral reflux
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000522.4(HOXA13):c.1114A>C (p.Asn372His)3209HOXA13Pathogenic121912542RCV000016021; NMedGen:C1841679,OMIM:140000,ORPHA:243872723787027237870NM_000522.4:c.1114A>CNP_000513.2:p.Asn372HisNC_000007.13:g.27237870T>GOMIM Allelic Variant:142959.0004C1841679 140000 Hand foot uterus syndrome
NM_000522.4(HOXA13):c.1107G>A (p.Trp369Ter)3209HOXA13Pathogenic104894019RCV000016018; NMedGen:C1841679,OMIM:140000,ORPHA:243872723787727237877NM_000522.4:c.1107G>ANP_000513.2:p.Trp369TerNC_000007.13:g.27237877C>TOMIM Allelic Variant:142959.0001C1841679 140000 Hand foot uterus syndrome
NM_000522.4(HOXA13):c.355_406dup52 (p.Ser136Cysfs)3209HOXA13Pathogenic387906542RCV000016025; NMedGen:C1841679,OMIM:140000,ORPHA:243872723929127239342NM_000522.4:c.355_406dup52NP_000513.2:p.Ser136CysfsNC_000007.13:g.27239291_27239342dup52OMIM Allelic Variant:142959.0008C1841679 140000 Hand foot uterus syndrome