MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Anophthalmos (D000853)
Parent Node:
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Microphthalmos (D008850)
..Starting node
..expand
Microphthalmia, 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)
..expandCHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..expandColoboma, cleft lip-palate and mental retardation syndrome (C535971)
..expandCOLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
..expandDuker Weiss Siber syndrome (C535719)
..expandGhose Sachdev Kumar syndrome (C537803)
..expandGOMBO syndrome (C537284)
..expandHEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..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)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..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 8 (OMIM:615113)
..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 10 (OMIM:616428)
..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 COLOBOMA 7 (OMIM:614497)
..expandMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
..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 11 (OMIM:614402)
..expandMICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
..expandMICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
..expandMicrophthalmia, syndromic 2 (C537465)
..expandMicrophthalmia, Syndromic 3 (C565948)
..expandMicrophthalmia, Syndromic 4 (C564457)
..expandMicrophthalmia, Syndromic 5 (C566441)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
..expandNanophthalmos 1 (C563983)
..expandNanophthalmos 2 (C563700)
..expandNanophthalmos 3 (C567498)
..expandNANOPHTHALMOS 4 (OMIM:615972)
..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,ClinVar, CTD
Term ID:8001
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;
MSeqDR LSDB:  
Genes: NAA10; WNK1;
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
NAMDC:  Growth 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:0000692Misalignment of teeth
35 HP:0001270Motor delay
36 HP:0000774Narrow chest
37 HP:0000588Optic nerve coloboma
38 HP:0000202Oral cleft
39 HP:0000396Overfolded helix
40 HP:0000767Pectus excavatum
41 HP:0000508Ptosis
NAMDC:  Ptosis
42 HP:0002089Pulmonary hypoplasiaHP:0040283
43 HP:0002021Pyloric stenosis
44 HP:0009466Radial deviation of finger
45 HP:0002035Rectal prolapse
46 HP:0000403Recurrent otitis media
47 HP:0000089Renal hypoplasia
48 HP:0008678Renal hypoplasia/aplasia
49 HP:0001250Seizures
NAMDC:  Seizures
50 HP:0000742Self-mutilation
51 HP:0000894Short clavicles
52 HP:0001264Spastic diplegia
53 HP:0001159Syndactyly
54 HP:0000465Webbed neck
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser)54880BCORUncertain significancers398124312RCV000081813|RCV000766092; NMedGen:CN517202|MedGen:C1846265,OMIM:300166; MedGen:C0796016,OMIM:309800, Orphanet:568X3993247439932474CTX:g.39932474C>TClinGen:CA223265CN169374 not specified;
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)54880BCORConflicting interpretations of pathogenicityrs144722432RCV000193574|RCV000625946|RCV000640962; NMedGen:CN169374|MedGen:C0796016,OMIM:309800, Orphanet:568|MedGen:C1846265,OMIM:300166X3993256439932564CTX:g.39932564C>TClinGen:CA207143
NM_003491.4(NAA10):c.*43A>G8260NAA10Likely pathogenicrs1603289772RCV000787316|RCV001215735; NMONDO:MONDO:0010527,MedGen:C1844948,OMIM:301590, Orphanet:85275|MedGen:C0796016,OMIM:309800, Orphanet:568X153195397153195397TCX:g.153195397T>COMIM:300013.0006
NM_003491.4(NAA10):c.*40A>G8260NAA10Likely pathogenicrs1342269961RCV000787314|RCV001215739; NMONDO:MONDO:0010527,MedGen:C1844948,OMIM:301590, Orphanet:85275|MedGen:C0796016,OMIM:309800, Orphanet:568X153195400153195400TCX:g.153195400T>COMIM:300013.0008
NM_003491.4(NAA10):c.*39A>G8260NAA10Likely pathogenicrs1603289774RCV000787315|RCV001215737; NMONDO:MONDO:0010527,MedGen:C1844948,OMIM:301590, Orphanet:85275|MedGen:C0796016,OMIM:309800, Orphanet:568X153195401153195401TCX:g.153195401T>COMIM:300013.0007
NM_003491.4(NAA10):c.471+2T>A8260NAA10Pathogenicrs587776457RCV000088650; NMedGen:C0796016,OMIM:309800, Orphanet:568X153196214153196214ATX:g.153196214A>TClinGen:CA345462,OMIM:300013.0002C0796016 309800 Lenz microphthalmia syndrome;
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg)8260NAA10Pathogenic-1RCV001249627; NMedGen:C0796016,OMIM:309800, Orphanet:568; MONDO:MONDO:0010457,MedGen:C3275447,OMIM:300855, Orphanet:276432X153197853153197853ACX:g.153197853A>C-
MSeqDR Portal