GO
MCID: GRD005
MIFTS: 50
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Geroderma Osteodysplasticum (GO)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Geroderma Osteodysplasticum:
Characteristics:Inheritance:
Geroderma Osteodysplasticum:
Autosomal recessive 57
Geroderma Osteodysplastica:
Autosomal recessive 58
Prevelance:
Geroderma Osteodysplastica:
<1/1000000 (Worldwide) 58
Age Of Onset:
Geroderma Osteodysplastica:
Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Skin diseases Mental diseases
ICD10:
32
Orphanet: 58
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GARD: 19 Geroderma osteodysplastica is a rare disease characterized by lax, wrinkled skin, loose joints, and a typical face with a prematurely aged appearance. Bone problems may include severe osteoporosis leading to frequent fractures, underdeveloped cheekbones and jaw (malar and mandibular hypoplasia), and a variable degree of growth deficiency. This condition is caused by genetic changes in the GORAB gene. Inheritance is autosomal recessive. MalaCards based summary: Geroderma Osteodysplasticum, also known as gerodermia osteodysplastica, is related to cutis laxa, autosomal dominant 1 and cutis laxa, autosomal dominant 3. An important gene associated with Geroderma Osteodysplasticum is GORAB (Golgin, RAB6 Interacting), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. Affiliated tissues include skin, bone and eye, and related phenotypes are beaking of vertebral bodies and osteoporosis OMIM®: 57 Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008). (231070) (Updated 08-Dec-2022) Disease Ontology: 11 A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has material basis in homozygous or compound heterozygous mutation in GORAB on 1q24.2. Orphanet: 58 Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. UniProtKB/Swiss-Prot: 73 A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. Wikipedia: 75 Gerodermia osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder included in... more... |
Human phenotypes related to Geroderma Osteodysplasticum:58 30 (show all 49)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:231070 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:25
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Cochrane evidence based reviews: gerodermia osteodysplastica |
Organs/tissues related to Geroderma Osteodysplasticum:
MalaCards :
Skin,
Bone,
Eye
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Articles related to Geroderma Osteodysplasticum:(show all 44)
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ClinVar genetic disease variations for Geroderma Osteodysplasticum:5 (show top 50) (show all 81)
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Search
GEO
for disease gene expression data for Geroderma Osteodysplasticum.
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Pathways related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:
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Cellular components related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:
Biological processes related to Geroderma Osteodysplasticum according to GeneCards Suite gene sharing:
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