Details of FH gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Fumarase deficiency (FHD) [MIM:606812]: Characterized by progressive encephalopathy |
hypotonia |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]: A disorder characterized by predisposition to cutaneous and uterine leiomyomas |
136850 |
Phenotypes
"Intellectual disability, Abnormal axial skeleton morphology, Abnormal cortical gyration, Abnormal internal genitalia, Abnormal muscle tone, Abnormal nasal morphology, Abnormal shape of the frontal region, Abnormality of blood and blood-forming tissues, Abnormality of acid-base homeostasis, Abnormality of adipose tissue, Abnormality of amino acid metabolism, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of carboxylic acid metabolism, Abnormality of connective tissue, Abnormality of erythrocytes, Abnormality of female internal genitalia, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of Krebs cycle metabolism, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of neuronal migration, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of skull size, Abnormality of subcutaneous fat tissue, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebral cortex, Abnormality of the cerebral ventricles, Abnormality of the cerebrum, Abnormality of the choroid plexus, Abnormality of the external nose, Abnormality of the eye, Abnormality of the face, Abnormality of the female genitalia, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the integument, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the palate, Abnormality of the posterior segment of the eye, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the uterus, Abnormality of urine homeostasis, Abnormality of vision, Acidosis, Aciduria, All, Aminoaciduria, Anteverted nares, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebral atrophy, Choroid plexus cyst, Cognitive impairment, Cutaneous leiomyoma, Decreased body weight, Decreased fumarate hydratase activity, Decreased subcutaneous fat, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Genital neoplasm, Global developmental delay, Growth abnormality, High palate, Hypertelorism, Intellectual disability, Lactic acidosis, Leiomyosarcoma, Macrocephaly, Microcephaly, Mitochondrial inheritance, Mode of inheritance, Morphological abnormality of the central nervous system, Multiple cutaneous leiomyomas, Muscular hypotonia, Narrow palate, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of the genitourinary tract, Neoplasm of the skin, Neurological speech impairment, Optic atrophy, Pallor, Phenotypic abnormality, Polycythemia, Polymicrogyria, Relative macrocephaly, Sarcoma, Seizures, Status epilepticus, Uterine leiomyoma, Uterine leiomyosarcoma, Uterine neoplasm, Visual impairment.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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