Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAnophthalmos (D000853)
Parent Node:
expandMicrophthalmos (D008850)
..Starting node
..expandMicrophthalmia, syndromic 1 (C537464)

       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:7239
Name:Microphthalmia, syndromic 1
Definition:
Alternative IDs:OMIM:309800
ParentIDs:MESH:D000853|MESH:D008850
TreeNumbers:C11.250.080/C537464 |C11.250.566/C537464 |C16.131.384.159/C537464 |C16.131.384.666/C537464
Synonyms:Lenz Dysmorphogenic Syndrome |Lenz dysplasia |Lenz microphthalmia syndrome |Lenz Syndrome |MAA, FORMERLY |MCOPS1 |Microphthalmia Or Anophthalmos with Associated Anomalies |Microphthalmia or anophthalmos with associated anomalies (formerly)
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: C537464
MeSH: C537464
OMIM: 309800;

Genes: NAA10;
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001018Abnormal palmar dermatoglyphics
3 HP:0002251Aganglionic megacolon
4 HP:0000690Agenesis of maxillary lateral incisor
5 HP:0000718Aggressive behavior
6 HP:0002023Anal atresia
7 HP:0000528Anophthalmia
8 HP:0000729Autistic behaviorHP:0040283
9 HP:0001647Bicuspid aortic valve
10 HP:0000618Blindness
11 HP:0012385Camptodactyly
12 HP:0000567Chorioretinal coloboma
13 HP:0020006Ciliary body coloboma
14 HP:0000204Cleft upper lip
15 HP:0030084Clinodactyly
16 HP:0000028Cryptorchidism
17 HP:0000678Dental crowding
18 HP:0200021Down-sloping shoulders
19 HP:0001290Generalized hypotonia
20 HP:0001510Growth delay
21 HP:0000365Hearing impairment
22 HP:0002705High, narrow palate
23 HP:0000072Hydroureter
24 HP:0000047Hypospadias
25 HP:0001249Intellectual disability
26 HP:0000612Iris coloboma
27 HP:0009473Joint contracture of the hand
28 HP:0002751Kyphoscoliosis
29 HP:0000369Low-set ears
30 HP:0002938Lumbar hyperlordosis
31 HP:0000252Microcephaly
32 HP:0000482Microcornea
33 HP:0000568Microphthalmia
34 HP:0001270Motor delay
35 HP:0000774Narrow chest
36 HP:0000588Optic disc coloboma
37 HP:0000202Oral cleft
38 HP:0000396Overfolded helix
39 HP:0000767Pectus excavatum
40 HP:0000508Ptosis
41 HP:0002089Pulmonary hypoplasiaHP:0040283
42 HP:0002021Pyloric stenosis
43 HP:0009466Radial deviation of finger
44 HP:0002035Rectal prolapse
45 HP:0000403Recurrent otitis media
46 HP:0000089Renal hypoplasia
47 HP:0008678Renal hypoplasia/aplasia
48 HP:0001250Seizure
49 HP:0000742Self-mutilation
50 HP:0000894Short clavicles
51 HP:0001264Spastic diplegia
52 HP:0001159Syndactyly
53 HP:0000692Tooth malposition
54 HP:0000465Webbed neck
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003491.3(NAA10):c.471+2T>A8260NAA10Pathogenic587776457RCV000088650; NGene:4080,MedGen:C0796016,OMIM:309800,ORPHA:568,SNOMED CT:438504004X153196214153196214NM_003491.3:c.471+2T>AX:g.153196214A>TOMIM Allelic Variant:300013.0002C0796016 309800 Lenz microphthalmia syndrome