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:
expandBlepharoptosis (D001763)
Parent Node:
expandEye Diseases, Hereditary (D015785)
Parent Node:
expandFibrosis (D005355)
Parent Node:
expandOphthalmoplegia (D009886)
..Starting node
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)

       Child Nodes:



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandCANOMAD syndrome (C537980)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker syndrome (C536703)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4292
Name:Fibrosis Of Extraocular Muscles, Congenital, 2
Definition:
Alternative IDs:OMIM:602078
ParentIDs:MESH:D001763|MESH:D005355|MESH:D009886|MESH:D015785
TreeNumbers:C10.292.562.750/C566587 |C10.597.622.447/C566587 |C11.270/C566587 |C11.338.204/C566587 |C11.590.472/C566587 |C16.320.290/C566587 |C23.550.355/C566587 |C23.888.592.636.447/C566587
Synonyms:CFEOM2 |FEOM2 LOCUS |Fibrosis Of Extraocular Muscles, Congenital, Autosomal Recessive
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C566587
MeSH: C566587
OMIM: 602078;

Genes: PHOX2A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000646Amblyopia
3 HP:0001488Bilateral ptosis
4 HP:0001491Congenital fibrosis of extraocular muscles
5 HP:0000577Exotropia
6 HP:0007936Restrictive external ophthalmoplegia
7 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_005169.3(PHOX2A):c.215C>T (p.Ala72Val)401PHOX2APathogenic104894269RCV000007242; NMedGen:C1865915,OMIM:602078117195483471954834NM_005169.3:c.215C>TNP_005160.2:p.Ala72ValNC_000011.9:g.71954834G>AOMIM Allelic Variant:602753.0003C1865915 602078 Fibrosis of extraocular muscles, congenital, 2