Disease #02219 (CMTX1 (Charcot-Marie-Tooth disease, X-linked dominant, type 1 (CMTX1)), OMIM:302800)

Official abbreviation CMTX1
Name Charcot-Marie-Tooth disease, X-linked dominant, type 1 (CMTX1)
OMIM ID 302800
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 24
Phenotype entries for this disease 19
Associated with 1 gene GJB1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-11-26 14:25:49 +01:00 (CET)


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00229597 03239 - - F - Croatia (Hrvatska) - - - - - CMTX1 - GJB1 GJB1 1 1 Ana Merkler
00229599 patient1 Merkler, ESHG2015, AbsPM10.14 2-generation family, 2 affected M - Croatia (Hrvatska) - - - - - CMTX1 - GJB1 GJB1 1 2 Ana Merkler
00229600 patient2 Merkler, ESHG2015, AbsPM10.14 patient2 F - Croatia (Hrvatska) - - - - - CMTX1 - GJB1 GJB1 1 1 Ana Merkler
00276350 - - - - - - - - - - - CMTX1 - GJB1 GJB1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00320260 172496 - - M ? Germany - - - - - CMTX1 clinical suspicion of HS(A)N, Charcot foot, sensitive axonal PNP, wound healing disorder GJB1 GJB1 1 1 Andreas Laner
00398575 FamPatIII27 PubMed: Liu 2020 PatIII27 M no China China - - - - CMTX1 see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Upper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315), Distal sensory impairment (HP:0002936) GJB1 GJB1 1 1 Farina Kemper
00398593 FamPatIV27 PubMed: Liu 2020 PatIV27 M yes China China - - - - CMTX1 see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Upper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315) GJB1 GJB1 1 1 Farina Kemper
00398594 FamPatIV34 PubMed: Liu 2020 PatIV34 M yes China China - - - - CMTX1 see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Upper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315), Hand tremor (HP:0002378), No pyramidal signs (-HP:0002936), EMG abnormality (HP:0003457) GJB1 GJB1 1 1 Farina Kemper
00398595 FamPatV2 PubMed: Liu 2020 PatV2 M no China China - - - - CMTX1 see paper; No pyramidal signs (-HP:0001288), No pyramidal signs (-HP:0001761), No pyramidal signs (-HP:0003484), No pyramidal signs (-HP:0007340), Upper limb amyotrophy (HP:0009129), No pyramidal signs (-HP:0001315), No pyramidal signs (-HP:0002378), No pyramidal signs (-HP:0002936), EMG abnormality (HP:0003457) GJB1 GJB1 1 1 Farina Kemper
00398979 Fam1PatIII2 PubMed: Lui 2017 3-generation family, 5 affected (2F, 3M) M ? China - >32y - - - CMTX1 see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); foot dorsiflexor weakness (HP:0009027); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); mixed demyelinating and axonal polyneuropathy (HP:0007327) - GJB1 1 5 Maeve Soen
00399473 Fam1PatII3 PubMed: Lui 2017 mother F ? China - >57y - - - CMTX1 see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315) - GJB1 1 1 Maeve Soen
00399474 Fam1PatII1 PubMed: Lui 2017 uncle M - China - >60y - - - CMTX1 see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); gait disturbance (HP:0001288) - GJB1 1 1 Maeve Soen
00399475 Fam1PatII5 PubMed: Lui 2017 uncle M - China - >55y - - - CMTX1 see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315) - GJB1 1 1 Maeve Soen
00399476 Fam2PatIII3 PubMed: Lui 2017 3-generation family, 3 affected (1F, 2M) M - China - >11y - - - CMTX1 see paper;…, distal lower limb muscle weakness (HP:0009053); steppage gait (HP:0003376); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); peripheral neuropathy (HP:0009830); mixed demyelinating and axonal polyneuropathy (HP:0007327) - GJB1 1 2 Maeve Soen
00399477 Fam2PatII5 PubMed: Lui 2017 mother F ? China - >41y - - - CMTX1 see paper;…, decreased compound muscle action potential amplitude (HP:0033383) - GJB1 1 1 Maeve Soen
00399563 Fam9PatII3 PubMed: Lui 2017 2-generation family, 2 affected (2M) , unaffected heterozygous carrier parents M ? China - >20y - - - CMTX1 see paper; ..., steppage gait (HP:0003376); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); distal amyotrophy (HP:0003693); areflexia (HP:0001284); clubbing of fingers (HP:0100759); soft tissue swelling of interphalangeal joints (HP:0006162); mixed demyelinating and axonal polyneuropathy (HP:0007327); decreased compound muscle action potential amplitude (HP:0033383) - GJB1 1 2 Maeve Soen
00399564 Fam9PatII1 PubMed: Lui 2017 brother M ? China - >29y - - - CMTX1 see paper; ..., distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); gait disturbance (HP:0001288); distal amyotrophy (HP:0003693) - GJB1 1 1 Maeve Soen
00399565 Fam11PatIII6 PubMed: Lui 2017 3-generation family, 4 affected (1F, 3M) M ? China - >37y - - - CMTX1 see paper; ..., distal lower limb amyotrophy (HP:0008944); lower limb muscle weakness (HP:0007340); distal lower limb amyotrophy (HP:0008944); areflexia (HP:0001284); pes cavus (HP:0001761); steppage gait (HP:0003376); mixed demyelinating and axonal polyneuropathy (HP:0007327); reduced tendon reflexes (HP:0001315) - GJB1 1 4 Maeve Soen
00399566 Fam11PatII3 PubMed: Lui 2017 mother F - China - >65y - - - CMTX1 see paper; ..., muscle weakness (HP:0001324); reduced tendon reflexes (HP:0001315); gait disturbance (HP:0001288); pes cavus (HP:0001761) - GJB1 1 1 Maeve Soen
00399569 Fam13PatIII3 PubMed: Lui 2017 3-generation family, 3 affected (2F, 1M) M ? China - >46y - - - CMTX1 see paper; ..., muscle weakness (HP:0001324); distal lower limb amyotrophy (HP:0008944); reduced tendon reflexes (HP:0001315); pes cavus (HP:0001761); steppage gait (HP:0003376); areflexia (HP:0001284); split hand HP:0001171; mixed demyelinating and axonal polyneuropathy (HP:0007327) - GJB1 1 3 Maeve Soen
00399570 Fam15PatIII2 PubMed: Lui 2017 3-generation family, 4 affected (1F, 3M) M - China - >39y - - - CMTX1 see paper; ..., hearing impairment (HP:0000365); dysesthesia (HP:0012534); muscle weakness (HP:0001324); reduced tendon reflexes (HP:0001315); distal amyotrophy (HP:0003693); areflexia (HP:0001284); clubbing of fingers (HP:0100759); soft tissue swelling of interphalangeal joints (HP:0006162); split hand HP:0001171; pes cavus (HP:0001761); steppage gait (HP:0003376); mixed demyelinating and axonal polyneuropathy (HP:0007327) - GJB1 1 4 Maeve Soen
00399571 Fam15PatII3 PubMed: Lui 2017 mother F ? China - >72y - - - CMTX1 see paper; ..., muscle weakness (HP:0001324); distal amyotrophy (HP:0003693); reduced tendon reflexes (HP:0001315); pes cavus (HP:0001761) - GJB1 1 1 Maeve Soen
00407631 - - - M - Italy - >50y - - - CMTX1 - - GJB1 1 1 Leonardo Salviati
00464284 319336 - - M no Germany - - - - - CMTX1 Sensorimotor neuropathy, Distal sensory impairment, educed motor nerve conduction velocity, positive family history of HSMN (brother and mother, carriers of the same variant p.Arg181Ala) GJB1 GJB1 1 1 Andreas Laner
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