FHCL4 is a form of autosomal recessive familial hypercholesterolemia resulting from mutations in the LDL Receptor Adaptor Protein. In these patients, LDLR function is reduced in the liver, but not in the fibroblasts.
Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
1p36.11
FHCL4 is a form of autosomal recessive familial hypercholesterolemia resulting from mutations in the LDL Receptor Adaptor Protein. In these patients, LDLR function is reduced in the liver, but not in the fibroblasts.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 603813.1.1 | Lebanon | Male | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis  | NM_015627.2:c.406C>T | Homozygous | Autosomal | Garcia et al, 2001 | |
| 603813.1.2 | Lebanon | Female | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.406C>T | Homozygous | Autosomal, Recessive | Garcia et al, 2001 | Sibling of 603813.1.... |
| 603813.1.3 | Lebanon | Male | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.406C>T | Homozygous | Autosomal, Recessive | Garcia et al, 2001 | Sibling of 603813.1.... |
| 603813.1.4 | Lebanon | Female | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.406C>T | Homozygous | Autosomal, Recessive | Garcia et al, 2001 | Sibling of 603813.1.... |
| 603813.2.1 | Lebanon | Female | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.605C>A | Homozygous | Autosomal, Recessive | Garcia et al, 2001 | |
| 603813.2.2 | Lebanon | Female | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.605C>A | Homozygous | Autosomal, Recessive | Garcia et al, 2001 | Sibling of 603813.2.... |
| 603813.3.1 | Lebanon | Female | Yes | No | Hypercholesterolemia; Xanthomatosis; C... Hypercholesterolemia; Xanthomatosis; Coronary artery atherosclerosis | NM_015627.2:c.406C>T | Homozygous | Autosomal, Recessive | Eden et al, 2002 | Turkish patient with... |
| 603813.3.2 | Lebanon | Female | Yes | No | Hypercholesterolemia Hypercholesterolemia | NM_015627.2:c.406C>T | Homozygous | Autosomal, Recessive | Eden et al, 2002 | Sister of 603813.3.1 |
| 603813.3.3 | Lebanon | Male | Yes | No | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.406C>T | Homozygous | Autosomal, Recessive | Eden et al, 2002 | Cousin of of 603813.... |
| 603813.4.1 | Lebanon | Male | No | Yes | Hypercholesterolemia; Xanthomatosis; Hypercholesterolemia; Xanthomatosis; | NM_015627.2:c.89-1G>C | Homozygous | Autosomal, Recessive | Lind et al, 2004 | |
| 603813.5.1 | Syria | Male | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.89-1G>C | Homozygous | Autosomal, Recessive | Al-Kateb et al, 2002 | |
| 603813.5.2 | Syria | Female | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.89-1G>C | Homozygous | Autosomal, Recessive | Al-Kateb et al, 2002 | |
| 603813.5.3 | Syria | Female | Yes | Yes | Hypercholesterolemia; Xanthomatosis Hypercholesterolemia; Xanthomatosis | NM_015627.2:c.89-1G>C | Homozygous | Autosomal, Recessive | Al-Kateb et al, 2002 | |
| 603813.6 | Lebanon | Unknown | Hypercholesterolemia Hypercholesterolemia | NM_015627.2:c.406C>T | Heterozygous | Autosomal, Dominant | Fahed et al, 2017 | |||
| 603813.7 | Lebanon | Female | Yes | Yes | Increased LDL cholesterol concentration;... Increased LDL cholesterol concentration; Xanthomatosis | NM_015627.2:c.406C>T, "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous, Homozygous | Autosomal, Recessive, Dominant | Fahed et al. 2016 | |
| 603813.8 | Lebanon | Male | Yes | Yes | Increased LDL cholesterol concentration;... Increased LDL cholesterol concentration; Xanthomatosis | NM_015627.2:c.406C>T, NM_000527.4:c.1171G>A | Heterozygous, Homozygous | Autosomal, Recessive, Dominant | Fahed et al. 2016 | |
| 603813.9 | Lebanon | Male | Yes | Increased LDL cholesterol concentration Increased LDL cholesterol concentration | NM_015627.2:c.406C>T, NM_000527.4:c.1171G>A, "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Recessive, Dominant | Fahed et al. 2016 | ||
| 603813.G.1 | Lebanon | Unknown | Hypercholesterolemia ; Abnormal heart ... Hypercholesterolemia ; Abnormal heart valve morphology | NM_015627.2:c.406C>T | Homozygous | Autosomal, Dominant | Fahed et al, 2017 | Group of 8 patients ... | ||
| 603813.G.2.1 | Lebanon | Unknown | Yes | Increased LDL cholesterol concentration Increased LDL cholesterol concentration | NM_015627.2:c.406C>T | Heterozygous | Autosomal, Recessive | Fahed et al. 2016 | Group of 11 patients | |
| 603813.G.2.2 | Lebanon | Unknown | Yes | Increased LDL cholesterol concentration;... Increased LDL cholesterol concentration; Xanthomatosis | NM_015627.2:c.406C>T | Homozygous | Autosomal, Recessive | Fahed et al. 2016 | Group of 9 patients | |
| 603813.G.2.3 | Lebanon | Unknown | Yes | Increased LDL cholesterol concentration;... Increased LDL cholesterol concentration; Xanthomatosis | NM_015627.2:c.406C>T, "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Recessive, Dominant | Fahed et al. 2016 | Group of 2 patients | |
| 603813.G.2.4 | Lebanon | Unknown | Yes | Increased LDL cholesterol concentration Increased LDL cholesterol concentration | NM_015627.2:c.406C>T, NM_000527.4:c.1171G>A | Heterozygous | Autosomal, Recessive, Dominant | Fahed et al. 2016 | Group of 4 patients |