| Disease ID | Source | Name | Description |
| 251880 | OMIM | Mitochondrial DNA depletion syndrome 3 (MTDPS3) | A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion. The disease is caused by variants affecting the gene represented in this entry. |
| 617068 | OMIM | Portal hypertension, non-cirrhotic (NCPH) | An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH patients show normal liver function. The disease is caused by variants affecting the gene represented in this entry. |
| 617070 | OMIM | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) | A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |