| Disease Browser
|
Parent Node:
 Charcot-Marie-Tooth disease, Type 4A, axonal form (C539595) | Parent Node:
Diseases (C) | Parent Node:
Vocal Cord Paralysis (D014826) | ..Starting node
.. CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
|
Child Nodes:
|
Sister Nodes: | ..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
| ..Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
| ..Laryngeal Adductor Paralysis (C562861)
| ..Neuropathy, Distal Hereditary Motor, Type VIIA (C563562)
| ..Tucker syndrome (C536923)
| ..Vocal cord dysfunction familial (C536354)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 2009 |
| Name: | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:C539595|MESH:D014826 |
| TreeNumbers: | C08.360.931/607706 |C09.400.931/607706 |C10.292.887.800/607706 |C10.500.300.200/C539595/607706 |C10.574.500.495.200/C539595/607706 |C10.597.622.943/607706 |C10.668.829.800.300.200/C539595/607706 |C16.131.666.300.200/C539595/607706 |C16.320.400.375.200/C539595/60 |
| Synonyms: | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM |CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE |CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE |
| Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms |
| Reference: |
MedGen: 607706
MeSH: 607706
OMIM: 607706;
Genes: GDAP1; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_018972.2(GDAP1):c.62delA (p.Asp21Alafs) | 54332 | GDAP1 | Pathogenic | 863224875 | RCV000196703; | N | MedGen:C1842197,OMIM:608340,ORPHA:217055; MedGen:C1842983,OMIM:607831,ORPHA:99944; MedGen:C1843183,OMIM:607706; MedGen:C1859198,OMIM:214400,ORPHA:99948 | 8 | 75262758 | 75262758 | NM_018972.2:c.62delA | NP_061845.2:p.Asp21Alafs | NC_000008.10:g.75262758delA | - | C1842983 607831 Charcot-Marie-Tooth disease type 2K; C1843183 607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; C1842197 608340 Charcot-Marie-Tooth disease, recessive intermediate A; C1859198 214400 Charcot-Marie-T | | | | NM_018972.2(GDAP1):c.347T>C (p.Met116Thr) | 54332 | GDAP1 | Pathogenic | 281865060 | RCV000196703; | N | MedGen:C1842197,OMIM:608340,ORPHA:217055; MedGen:C1842983,OMIM:607831,ORPHA:99944; MedGen:C1843183,OMIM:607706; MedGen:C1859198,OMIM:214400,ORPHA:99948 | 8 | 75272408 | 75272408 | NM_018972.2:c.347T>C | NP_061845.2:p.Met116Thr | NC_000008.10:g.75272408T>C,NC_000008.10:g.75272408T>G | - | C1842983 607831 Charcot-Marie-Tooth disease type 2K; C1843183 607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; C1842197 608340 Charcot-Marie-Tooth disease, recessive intermediate A; C1859198 214400 Charcot-Marie-T | | | | NM_018972.2(GDAP1):c.487C>T (p.Gln163Ter) | 54332 | GDAP1 | Pathogenic | 104894077 | RCV000204463; RCV000004413; RCV000031963; | N | MedGen:C1843183,OMIM:607706; MedGen:C1859198,OMIM:214400,ORPHA:99948; MedGen:C4016973 | 8 | 75274121 | 75274121 | NM_018972.2:c.487C>T | NP_061845.2:p.Gln163Ter | NC_000008.10:g.75274121C>T | OMIM Allelic Variant:606598.0004 | C1843183 607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; C1859198 214400 Charcot-Marie-Tooth disease, type 4A; C4016973 Neuropathy, axonal, with vocal cord paresis, autosomal recessive | | | | NM_018972.2(GDAP1):c.581C>G (p.Ser194Ter) | 54332 | GDAP1 | Pathogenic | 104894075 | RCV000004410; RCV000004411; RCV000023562; | N | MedGen:C1842983,OMIM:607831,ORPHA:99944; MedGen:C1843183,OMIM:607706; MedGen:C4016972 | 8 | 75275175 | 75275175 | NM_018972.2:c.581C>G | NP_061845.2:p.Ser194Ter | NC_000008.10:g.75275175C>G | OMIM Allelic Variant:606598.0002 | C1842983 607831 Charcot-Marie-Tooth disease type 2K; C1843183 607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; C4016972 Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a | | |
|
|
