Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
18q21.31
Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels. [from OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 177000.1.1 | Lebanon | Male | Yes | Yes | Cutaneous photosensitivity; Lichenifica... Cutaneous photosensitivity; Lichenification; Abnormality of the liver  | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | |
| 177000.1.2 | Lebanon | Male | Yes | Yes | Cutaneous photosensitivity; Lichenifica... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Sibling of 177000.1.... |
| 177000.1.3 | Lebanon | Female | Yes | Yes | Cutaneous photosensitivity; Lichenifica... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Deceased sibling of ... |
| 177000.1.4 | Lebanon | Female | Yes | Yes | Cutaneous photosensitivity; Lichenifica... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Deceased sibling of ... |
| 177000.1.5 | Lebanon | Male | Yes | Yes | Cutaneous photosensitivity; Lichenific... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Sibling of 177000.1.... |
| 177000.1.6 | Lebanon | Female | Yes | Yes | Cutaneous photosensitivity; Lichenific... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Sibling of 177000.1.... |
| 177000.1.7 | Lebanon | Male | Yes | No | Cutaneous photosensitivity; Lichenific... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Offspring of 177000.... |
| 177000.2.1 | Lebanon | Female | Yes | Yes | Cutaneous photosensitivity; Lichenifica... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | |
| 177000.2.2 | Lebanon | Female | Yes | Yes | Cutaneous photosensitivity; Lichenifica... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Sibling of 177000.2.... |
| 177000.2.3 | Lebanon | Female | Yes | Yes | Cutaneous photosensitivity; Lichenifica... Cutaneous photosensitivity; Lichenification; Abnormality of the liver | NM_001012515.3:c.881T>C | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | Deceased sibling of ... |
| 177000.3 | Syria | Male | No | Yes | Hepatosplenomegaly; Jaundice; Increase... Hepatosplenomegaly; Jaundice; Increased erythrocyte protoporphyrin concentration | NM_001012515.3:c.690T>G | Homozygous | Autosomal, Recessive | Kadara et al. 2017 | |
| 177000.4 | Lebanon | Unknown | No | Intrahepatic cholestasis Intrahepatic cholestasis | NM_000140.5:c.863T>C | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 | Parents unrelated, b... |