Details of SUMF1 gene in Homo sapiens
Disease |
Disease |
OMIM id |
Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Note=The disease is caused by mutations affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases. |
272200 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal bone ossification, Abnormal bone structure, Abnormal epiphyseal ossification, Abnormal facial shape, Abnormality of blood and blood-forming tissues, Abnormality of cellular immune system, Abnormality of granulocytes, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of leukocytes, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of metabolism/homeostasis, Abnormality of myeloid leukocytes, Abnormality of neutrophil morphology, Abnormality of neutrophils, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of the central nervous system, Abnormality of the cerebral ventricles, Abnormality of the cerebrospinal fluid, Abnormality of the digits, Abnormality of the elbow, Abnormality of the epiphyses, Abnormality of the face, Abnormality of the foot, Abnormality of the hallux, Abnormality of the head, Abnormality of the immune system, Abnormality of the integument, Abnormality of the joints of the upper limbs, Abnormality of the lower limb, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the upper limb, Abnormality of toe, Abnormal joint morphology, All, Autosomal recessive inheritance, Broad hallux, Broad toe, Coarse facial features, Cognitive impairment, Dysostosis multiplex, Ectopic calcification, Epidermal thickening, Epiphyseal stippling, Generalized abnormality of skin, Global developmental delay, Hydrocephalus, Ichthyosiform abnormality of the skin, Increased CSF protein, Limitation of joint mobility, Limited elbow extension, Limited elbow movement, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Neutrophil inclusion bodies, Phenotypic abnormality, Progressive neurologic deterioration, Rapid neurologic deterioration, Thickened skin.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Sumf1 | CG7049 | --- | Sp-Sumf1 |