Disease #01897 (CMRD (chylomicron retention disease), OMIM:246700)

Official abbreviation CMRD
Name chylomicron retention disease
OMIM ID 246700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 28
Phenotype entries for this disease 28
Associated with 1 gene SAR1B
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

28 entries on 1 page. Showing entries 1 - 28.
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00445297 - - - - - - - - - - - CMRD - SAR1B SAR1B 2 1 Guido Neidhardt
00445343 Fam1PatII1 PubMed: Jones 2003 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Algeria - - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 1 2 Johan den Dunnen
00445344 Fam1PatII2 PubMed: Jones 2003 sister F - Algeria - - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 1 1 Johan den Dunnen
00445345 Fam2PatII1 PubMed: Jones 2003 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 1 2 Johan den Dunnen
00445346 Fam2PatII2 PubMed: Jones 2003 sister F - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 1 1 Johan den Dunnen
00445347 Fam3PatII1 PubMed: Jones 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 2 1 Johan den Dunnen
00445348 Fam4PatII1 PubMed: Jones 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada white - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 1 1 Johan den Dunnen
00445349 Fam5PatII1 PubMed: Jones 2003 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Turkey - - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 1 2 Johan den Dunnen
00445350 Fam5PatII2 PubMed: Jones 2003 sister F - Turkey - - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 1 1 Johan den Dunnen
00445351 Fam6PatII1 PubMed: Jones 2003, PubMed: Annesi 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; segregation of two diseases M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy SAR1B, SIL1 SAR1B, SIL1 2 2 Johan den Dunnen
00445352 Fam6PatII2 PubMed: Jones 2003, PubMed: Annesi 2007 brother M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy SAR1B, SIL1 SAR1B, SIL1 2 1 Johan den Dunnen
00445353 Fam7PatII1 PubMed: Jones 2003 - - - Pakistan - - - - - CMRD see paper; ..., failure to thrive in infancy SAR1B SAR1B 2 1 Johan den Dunnen
00445354 Fam8PatII1 PubMed: Jones 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) F yes Algeria - - - - - CMRD see paper; ..., chronic diarrhoea, weight loss SAR1B SAR1B 1 1 Johan den Dunnen
00445356 FamIPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents F - Algeria - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 2 Johan den Dunnen
00445357 FamIPat2 PubMed: Charcosset 2008 brother M - Algeria - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 1 Johan den Dunnen
00445358 FamIIPat1 PubMed: Charcosset 2008 2-generation family, 4 affected, unaffected heterozygous parents M - Turkey - - - - - CMRD see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 4 Johan den Dunnen
00445359 FamIIPat2 PubMed: Charcosset 2008 sister F - Turkey - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 1 Johan den Dunnen
00445360 FamIIPat3 PubMed: Charcosset 2008 sister F - Turkey - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 1 Johan den Dunnen
00445361 FamIIPat4 PubMed: Charcosset 2008 brother M - Turkey - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes upper limbs decreased, lower limbs absent SAR1B SAR1B 1 1 Johan den Dunnen
00445362 FamIIIPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents M - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 2 Johan den Dunnen
00445363 FamIIIPat2 PubMed: Charcosset 2008 brother M - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 1 Johan den Dunnen
00445364 FamIVPat1 PubMed: Charcosset 2008 2-generation family, 1 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 1 Johan den Dunnen
00445365 FamVPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, vomiting; hepatic signs HM; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 2 2 Johan den Dunnen
00445366 FamVPat2 PubMed: Charcosset 2008 brother M - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 2 1 Johan den Dunnen
00445367 FamVIPat1 PubMed: Charcosset 2008 2-generation family, 2 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 2 Johan den Dunnen
00445368 FamVIPat2 PubMed: Charcosset 2008 brother M - Canada French-Canadian - - - - CMRD see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 1 Johan den Dunnen
00445369 FamVIIPat1 PubMed: Charcosset 2008 2-generation family, 1 affected, unaffected heterozygous parents F - Canada French-Canadian - - - - CMRD see paper; ..., no diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs) SAR1B SAR1B 1 1 Johan den Dunnen
00445370 FamVIIIPat1 PubMed: Charcosset 2008 2-generation family, 1 affected, unaffected heterozygous parents F - Portugal - - - - - CMRD see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes upper limbs quick, lower limbs decreased SAR1B SAR1B 1 1 Johan den Dunnen
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