Disease #01705 (CMT4A (Charcot-Marie-Tooth disease, type 4A (CMT-4A)), OMIM:214400)

Official abbreviation CMT4A
Name Charcot-Marie-Tooth disease, type 4A (CMT-4A)
OMIM ID 214400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 25
Phenotype entries for this disease 25
Associated with 1 gene GDAP1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00103674 ? PubMed: Boerkoel 2003 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103675 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103677 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103681 ? PubMed: Sevilla 2008 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103684 ? PubMed: Claramunt 2005 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103685 11743579-FamDUK1403 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103690 11743579-FamDUK1402 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103691 ? PubMed: Chung 2008 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103693 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103703 ? PubMed: Bouhouche 2007 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103704 ? PubMed: Shagina 2010 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103705 12499475-FamCMT109 PubMed: Nelis 2002 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs F;M - Turkey - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 2 Johan den Dunnen
00103710 12499475-FamCMT139 PubMed: Nelis 2002 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 2 Johan den Dunnen
00103713 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103716 11743579-FamDUK1404 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103718 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103721 ? PubMed: Kabzinska 2006 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A GDAP1 GDAP1 1 1 Johan den Dunnen
00103723 11743579-FamDUK1405 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A - GDAP1 GDAP1 1 1 Johan den Dunnen
00103724 12499475-FamPN860 PubMed: Nelis 2002 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - - - - CMT4A see paper; ... GDAP1 GDAP1 1 2 Johan den Dunnen
00103725 12499475-FamCMT111 PubMed: Nelis 2002 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M - Turkey - - - - - CMT4A see paper; ... GDAP1 GDAP1 1 3 Johan den Dunnen
00398980 - PubMed: Xue H 2021 2-generation family, 1 affected, unaffected father, unaffected carrier mother M - China Chinese >16y - - - CMT4A Gait disturbance (HP:0001288),Lower limb amyotrophy (HP:0007210), Split hand (HP:0001171), Difficulty running (HP:0009046), Difficult climbing stairs (HP:0003551), Lower limb muscle weakness (HP:0007340), High-arched feet Pes cavus (HP:0001761), Ankle weakness (HP:0031374), Limited ankle dorsiflexion (HP:0033526), No spinal deformities (-HP:0008443), Reduced tendon reflexes (HP:0001315), No impaired tactile sensation (-HP:0010830), No impaired pain sensation (-HP:0007328), Decreased nerve conduction velocity (HP:0000762) GDAP1 GDAP1 2 1 Yvet den Hartog
00398982 II-1 PubMed: Mai PT 2019 2-generation family, 3 affected siblings, 2 unaffected carrier parents F - Viet Nam Vietnamese >16y - - - CMT4A Lower limb amyotrophy (HP:0007210), Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), Pes cavus (HP:0001761), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046) GDAP1 GDAP1 1 3 Yvet den Hartog
00399124 II-2 PubMed: Mai PT 2019 2-generation family, 3 affected siblings, 2 unaffected carrier parents F - Viet Nam Vietnamese >12y - - - CMT4A Lower limb amyotrophy (HP:0007210), Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), Pes cavus (HP:0001761), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046) GDAP1 GDAP1 1 1 Yvet den Hartog
00399125 II-3 PubMed: Mai PT 2019 2-generation family, 3 affected siblings, 2 unaffected carrier parents M - Viet Nam Vietnamese >03y04m - - - CMT4A Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046) GDAP1 GDAP1 1 1 Yvet den Hartog
00400221 II-2 PubMed: Jiang H 2021 2-generation family, 2 affected, 1 unaffected, 2 unaffected carrier parents F no China Chinese >29y - - - CMT4A Skeletal muscle atrophy (HP:0003202), Abnormal bone ossification (HP:0011849), No abnormal bone structure (-HP:0003330), Ankle flexion contracture (HP:0006466), Pes cavus (HP:0001761), Muscle weakness (HP:0001324), Bilateral talipes equinovarus (HP:0001776), Abnormality of the wrist (HP:0003019), Joint contracture of the hand (HP:0009473), Contracture involving the joints of the feet (HP:0008366), No poor speech (-HP:0002465), No hearing abnormality (-HP:0000364), No abnormality of vision (-HP:0000504), No intellectual disability (-HP:0001249), Poor gross motor coordination (HP:0007015), Somatic sensory dysfunction (HP:0003474), Peripheral neuropathy (HP:0009830), Reduced bone mineral density (HP:0004349), No skeletal dysplasia (HP:0002652), Gait disturbance (HP:0001288) GDAP1 GDAP1 1 2 Yvet den Hartog
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.