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:
expandColoboma (D003103)
Parent Node:
expandMicrophthalmos (D008850)
..Starting node
..expandMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAnophthalmia with pulmonary hypoplasia (C537768)
..expandArhinia, choanal atresia, and microphthalmia (C537429)
..expandAughton syndrome (C538269)
..expandBehrens Baumann Dust syndrome (C537670)
..expandCataract, congenital, with microcornea or slight microphthalmia (C535338)
..expandColoboma, cleft lip/palate and mental retardation syndrome (C535971)
..expandDuker Weiss Siber syndrome (C535719)
..expandFRONTONASAL DYSPLASIA 3 (OMIM:613456)
..expandGhose Sachdev Kumar syndrome (C537803)
..expandGOMBO syndrome (C537284)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHoloprosencephaly 10 (C567278)
..expandKaplowitz Bodurtha syndrome (C536893)
..expandMacrosomia with lethal microphthalmia (C537830)
..expandMicrocephaly microphthalmos blindness (C537541)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMicrocornea corectopia macular hypoplasia (C537551)
..expandMicrogastria limb reduction defect (C537554)
..expandMicrophthalmia and mental deficiency (C537462)
..expandMicrophthalmia associated with colobomatous cyst (C537463)
..expandMicrophthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..expandMicrophthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..expandMicrophthalmia, Cataracts, and Iris Abnormalities (C566448)
..expandMicrophthalmia, Isolated 1 (C565377)
..expandMicrophthalmia, Isolated 2 (C566446)
..expandMicrophthalmia, Isolated 3 (C567025)
..expandMicrophthalmia, Isolated 4 (C567757)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandMICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
..expandMICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
..expandMicrophthalmia, Isolated, with Cataract 1 (C563582)
..expandMicrophthalmia, Isolated, with Cataract 2 (C565876)
..expandMicrophthalmia, Isolated, with Cataract 3 (C564452)
..expandMicrophthalmia, Isolated, with Cataract 4 (C566480)
..expandMicrophthalmia, Isolated, with Coloboma 1 (C564531)
..expandMicrophthalmia, Isolated, with Coloboma 2 (C565300)
..expandMicrophthalmia, Isolated, with Coloboma 3 (C566447)
..expandMicrophthalmia, Isolated, with Coloboma 4 (C565378)
..expandMicrophthalmia, Isolated, with Coloboma 5 (C566899)
..expandMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
..expandMicrophthalmia, Isolated, With Corectopia (C563581)
..expandMicrophthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..expandMicrophthalmia, syndromic 1 (C537464)
..expandMicrophthalmia, Syndromic 10 (C566985)
..expandMicrophthalmia, syndromic 2 (C537465)
..expandMicrophthalmia, Syndromic 3 (C565948)
..expandMicrophthalmia, Syndromic 4 (C564457)
..expandMicrophthalmia, Syndromic 5 (C566441)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandNanophthalmos 1 (C563983)
..expandNanophthalmos 2 (C563700)
..expandNanophthalmos 3 (C567498)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandTachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..expandThomas Jewett Raines syndrome (C536513)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7236
Name:MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
Definition:
Alternative IDs:
ParentIDs:MESH:D003103|MESH:D008850
TreeNumbers:C11.250.110/613703 |C11.250.566/613703 |C16.131.384.282/613703 |C16.131.384.666/613703
Synonyms:MCOPCB6
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: 613703
MeSH: 613703
OMIM: 613703;

Genes: GDF3; GDF6;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0009911Abnormal temporal bone morphologyHP:0040284
3 HP:0007633Bilateral microphthalmosHP:0040281
4 HP:0000589ColobomaHP:0040281
5 HP:0010984Digenic inheritance
6 HP:0007750Hypoplasia of the fovea
7 HP:0000639Nystagmus
8 HP:0007766Optic disc hypoplasia
9 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_020634.1(GDF3):c.974C>T (p.Pro325Leu)9573GDF3Uncertain significance566697767RCV000059345; NMedGen:C3150968,OMIM:6137031278425957842595NM_020634.1:c.974C>TNP_065685.1:p.Pro325LeuNC_000012.11:g.7842595G>A-C3150968 613703 Microphthalmia, isolated, with coloboma 6
NM_020634.1(GDF3):c.820C>T (p.Arg274Trp)9573GDF3Pathogenic387906946RCV000023559; NMedGen:C3150968,OMIM:6137031278427497842749NM_020634.1:c.820C>TNP_065685.1:p.Arg274TrpNC_000012.11:g.7842749G>AOMIM Allelic Variant:606522.0004C3150968 613703 Microphthalmia, isolated, with coloboma 6
NM_020634.1(GDF3):c.796C>T (p.Arg266Cys)9573GDF3Pathogenic140926412RCV000023555; RCV000023556; NMedGen:C3150967,OMIM:613702; MedGen:C3150968,OMIM:6137031278427737842773NM_020634.1:c.796C>TNP_065685.1:p.Arg266CysNC_000012.11:g.7842773G>AOMIM Allelic Variant:606522.0001C3150967 613702 Klippel-Feil syndrome 3, autosomal dominant; C3150968 613703 Microphthalmia, isolated, with coloboma 6
NM_001001557.2(GDF6):c.595G>A (p.Ala199Thr)392255GDF6Pathogenic387906794RCV000023075; RCV000054524; NMedGen:C3150968,OMIM:613703; MedGen:C3715164,OMIM:61536089715756497157564NM_001001557.2:c.595G>ANP_001001557.1:p.Ala199ThrNC_000008.10:g.97157564C>TOMIM Allelic Variant:601147.0007C3715164 615360 Leber congenital amaurosis 17; C3150968 613703 Microphthalmia, isolated, with coloboma 6