Disease #02190 (MCLDS (McLeod syndrome (neuroacanthocytosis)), OMIM:300842)

Official abbreviation MCLDS
Name McLeod syndrome (neuroacanthocytosis)
OMIM ID 300842
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked
Individuals reported having this disease 26
Phenotype entries for this disease 21
Associated with 1 gene XK
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-10-13 10:22:25 +02:00 (CEST)


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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     
00034399 - PubMed: Brown 1996 - M - - - - - - - CGDX, MCLDS - DMD DMD 1 1 Johan den Dunnen
00122125 08921393-PatBB PubMed: Brown 1996 - M - - - - - - - CGDX, DMD, MCLDS, retinal disease dystrophy, muscular, Duchenne type (DMD), McLeod phenotype, chronic granulomatous disease; retinitis pigmentosa DMD DMD 1 1 Johan den Dunnen
00138540 - PubMed: Brown - M - - - - - - - CGD, DMD, MCLDS - DMD DMD 1 1 Johan den Dunnen
00138541 - PubMed: Brown - M - - - - - - - CGD, DMD, MCLDS - DMD DMD 1 1 Johan den Dunnen
00431392 Pat1 PubMed: Peng 2007 2-generation family, 2 affected brothers, unaffected carrier mother M - United States - - - - - MCLDS see paper; ..., 30y-acanthocytosis, McLeod Kell phenotype; 50y-problems walking, leg weakness; 55y-seizure; 56y-occasional auras, tongue biting, bruxism, leg restlessness, memory problems, very mild leg chorea, speech mildly dysarthric, power/tone diminished throughout, deep tendon reflexes absent XK XK 1 2 Johan den Dunnen
00437160 D687 PubMed: Kekou 2023 contiguous gene syndrome M - Greece - - - - - BMD/DMD, CGD, MCLDS chronic granulomatous disease, elevated CK (15,000 IU/L) DMD CYBB, DMD, XK 1 1 Johan den Dunnen
00460867 Pat1;Pat1;Pat1;Pat1;Pat1;Pat17 PubMed: Danek 1990, PubMed: Witt 1992, PubMed: Danek 2001, PubMed: Danek 1994, PubMed: Oechsner 2001, PubMed: Danek 2001 - M - Germany - - - - - MCLDS see paper; ..., 62y-deceased, acanthocytosisatrial fibrillation XK XK 1 1 Johan den Dunnen
00460868 Pat2;FamPat5 PubMed: Bertelson 1988, PubMed: Danek 2001 family, 2 affected brothers M - - - - - - - MCLDS see paper; ..., acanthocytosis, Kell antigen McLeod phenotype XK XK 1 2 Johan den Dunnen
00460869 Pat1;FamPat6 PubMed: Bertelson 1988, PubMed: Danek 2001 brother M - - - - - - - MCLDS see paper; ..., acanthocytosis, Kell antigen McLeod phenotype XK XK 1 1 Johan den Dunnen
00460870 Pat13 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, splenomegaly XK XK 1 1 Johan den Dunnen
00460871 PatLIII4;Pat2 PubMed: Hardie 1991, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, movement disorder, family investigation XK XK 1 1 Johan den Dunnen
00460872 Pat2;Pat6;Pat1 PubMed: Oechsner 2001, PubMed: Danek 2001, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, muscle fatigue XK XK 1 1 Johan den Dunnen
00460873 Pat20 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, seizure XK XK 1 1 Johan den Dunnen
00460874 Pat22 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, seizure XK XK 1 1 Johan den Dunnen
00460875 Pat21 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, Kell antigen McLeod phenotype XK XK 1 1 Johan den Dunnen
00460876 PatiIII8;Pat14 PubMed: Malandrini 1994, PubMed: Danek 2001 family, 3 affected (3M) M - - - - - - - MCLDS see paper; ..., 55y-deceased, acanthocytosis, movement disorder, depression XK XK 1 3 Johan den Dunnen
00460877 patient;Pat15 PubMed: Dotti 2000, PubMed: Danek 2001 - M - Italy - - - - - MCLDS see paper; ..., 56y-deceased, acanthocytosis, movement disorder XK XK 1 1 Johan den Dunnen
00460878 Pat23 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., XK XK 1 1 Johan den Dunnen
00460879 Pat18 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, movement disorder XK XK 1 1 Johan den Dunnen
00460880 Pat19 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, seizure, movement disorder XK XK 1 1 Johan den Dunnen
00460881 PatFD9 PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., Kell antigen McLeod phenotype XK XK 1 1 Johan den Dunnen
00460882 Pat4;FamPat9 PubMed: Danek 2001, PubMed: Danek 2001 family, 2 affected brothers M - - - - - - - MCLDS see paper; ..., acanthocytosis, muscle fatigue, movement disorder XK XK 1 2 Johan den Dunnen
00460883 Pat5;FamPat10 PubMed: Danek 2001, PubMed: Danek 2001 brother M - - - - - - - MCLDS see paper; ..., acanthocytosis, family investigation XK XK 1 1 Johan den Dunnen
00460884 PatED9 PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., Kell antigen McLeod phenotype XK XK 1 1 Johan den Dunnen
00460885 Pat11 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, movement disorder XK XK 1 1 Johan den Dunnen
00460886 Pat3;Pat12 PubMed: Danek 2001, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, disruptive behavior, movement disorder XK XK 1 1 Johan den Dunnen
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.