Details of MYH8 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Carney complex variant (CACOV) [MIM:608837]: Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. Note=The disease is caused by mutations affecting the gene represented in this entry. |
608837 |
Arthrogryposis, distal, 7 (DA7) [MIM:158300]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature. Note=The disease is caused by mutations affecting the gene represented in this entry. |
158300 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal facial shape, Abnormality of body height, Abnormality of facial skeleton, Abnormality of head and neck, Abnormality of limb bone morphology, Abnormality of pelvic girdle bone morphology, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the digits, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the face, Abnormality of the foot, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the joints of the lower limbs, Abnormality of the lower limb, Abnormality of the mandible, Abnormality of the metatarsal bones, Abnormality of the mouth, Abnormality of the nervous system, Abnormality of the philtrum, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of toe, Abnormal joint morphology, All, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the mandible, Autosomal dominant inheritance, Cutaneous syndactyly of toes, Deep philtrum, Dysphagia, Facial asymmetry, Growth abnormality, Growth delay, Hammertoe, Hip dislocation, Joint dislocation, Macrocephaly, Metatarsus adductus, Micrognathia, Mode of inheritance, Phenotypic abnormality, Positional foot deformities, Ptosis, Short stature, Syndactyly, Talipes, Talipes equinovarus, Toe syndactyly, Trismus.
