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:
expandAtaxia (D001259)
Parent Node:
expandHearing Loss (D034381)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandOptic Atrophy (D009896)
Parent Node:
expandSpasm (D013035)
..Starting node
..expandBehr syndrome (C537669)

       Child Nodes:



 Sister Nodes: 
..expandBehr syndrome (C537669)
..expandDwarfism, Familial, With Muscle Spasms (C563447)
..expandHemifacial Spasm (D019569) Child1
..expandSatoyoshi syndrome (C536616)
..expandTrismus (D014313) Child2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1212
Name:Behr syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001259|MESH:D008607|MESH:D009896|MESH:D013035|MESH:D034381
TreeNumbers:C09.218.458.341/C537669 |C10.292.700.225/C537669 |C10.597.350.090/C537669 |C10.597.606.643/C537669 |C10.597.613.750/C537669 |C10.597.751.418.341/C537669 |C11.640.451/C537669 |C23.888.592.350.090/C537669 |C23.888.592.604.646/C537669 |C23.888.592.608.750/C537669 |C2
Synonyms:Optic atrophy, infantile hereditary, Behr complicated form of |Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities
Slim Mappings:Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C537669
MeSH: C537669
OMIM: 210000;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001771Achilles tendon contracture
3 HP:0006366Adductor longus contractures
4 HP:0003487Babinski sign
5 HP:0001272Cerebellar atrophy
6 HP:0001310Dysmetria
7 HP:0001288Gait disturbance
8 HP:0003089Hamstring contractures
9 HP:0001347Hyperreflexia
10 HP:0001249Intellectual disability
11 HP:0001270Motor delay
12 HP:0000639Nystagmus
13 HP:0000648Optic atrophy
14 HP:0003676Progressive
15 HP:0002191Progressive spasticity
16 HP:0000529Progressive visual loss
17 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_130833.2(OPA1):c.1149A>G (p.Ile383Met)4976OPA1Pathogenic;Uncertain significance143319805RCV000043607; RCV000043608; RCV000081747; RCV000198140; RCV000210748; NMedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN169374; MedGen:CN2218093193361167193361167NM_130833.2:c.1149A>GNP_570846.1:p.Ile383MetHGMD:CM080464,OMIM Allelic Variant:605290.0018C0221061 210000 Abortive cerebellar ataxia; C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; CN169374 not specified; C1852267 125250 Optic Atrophy Type 1
NM_015560.2(OPA1):c.2708_2711delTTAG (p.Val903Glyfs)4976OPA1Pathogenic80356530RCV000005387; RCV000043606; RCV000081763; RCV000210745; NMedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN2218093193384959193384962NM_015560.2:c.2708_2711delTTAGNP_056375.2:p.Val903GlyfsNC_000003.11:g.193384959_193384962delTTAGHGMD:CD002708,OMIM Allelic Variant:605290.0003C0221061 210000 Abortive cerebellar ataxia; C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; C1852267 125250 Optic Atrophy Type 1