Greenberg Skeletal Dysplasia malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases
Aliases & Descriptions for Greenberg Skeletal Dysplasia:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Bone diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
OMIM:50 Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare... (215140) more...
MalaCards based summary: Greenberg Skeletal Dysplasia, also known as greenberg dysplasia, is related to hemophilia b and hemophilia a, and has symptoms including abnormality of the ribs, lymphedema and brachydactyly syndrome. An important gene associated with Greenberg Skeletal Dysplasia is LBR (Lamin B Receptor). The drugs mesna and desmopressin have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pancreatic islet.
Genetics Home Reference:24 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.
NIH Rare Diseases:46 Greenberg dysplasia is a very severe disorder that that affects the bones. it is called a skeletal dysplasia because the bones do not develop properly. this condition is sometimes called hem based on the main features of hydrops fetalis, ectopic calcifications, and "moth-eaten" appearance of the skeleton. greenberg dysplasia is an autosomal recessive condition caused by a mutation in the lamin b receptor (lbr) gene. because of the very severe symptoms of greenberg dysplasia, fetuses with this condition do not survive until birth. last updated: 8/24/2016
UniProtKB/Swiss-Prot:68 Greenberg dysplasia: A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers.
Wikipedia:69 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It... more...
Diseases related to Greenberg Skeletal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:
Comorbidity relations with Greenberg Skeletal Dysplasia via Phenotypic Disease Network (PDN):
Graphical network of diseases related to Greenberg Skeletal Dysplasia:
Symptoms by clinical synopsis from OMIM:215140
Clinical features from OMIM:215140
Symptoms:52 (show all 18)
HPO human phenotypes related to Greenberg Skeletal Dysplasia:(show all 84)
UMLS symptoms related to Greenberg Skeletal Dysplasia:abdominal pain, chest pain, constipation, coughing, diarrhea, dyspepsia, fatigue, halitosis, headache, heartburn, hematemesis, hematocolpometra, hemoptysis, hemorrhagic ascites, nausea and vomiting, pain, pelvic pain, pruritus, sciatica, signs and symptoms, syncope, polydipsia, chronic pain, muscle weakness, ovulation bleeding, umbilical bleeding, intermenstrual heavy bleeding, cullen's sign, blood discharge from ear, traumatic hematuria, blood in feces symptom, bleeding/hemorrhage nos, vertigo/dizziness, bloody nipple discharge, regular intermenstrual bleeding, mid-cycle bleeding, gastrointestinal gas, mucosal haemorrhage, nail bed hemorrhage, blood in stool, symptoms, coffee ground vomiting, systemic symptoms, anal pain accompanied by bleeding, easy bleeding, bleeding of eyebrows, hepatomegaly
Interventional clinical trials:
Search NIH Clinical Center for Greenberg Skeletal Dysplasia
Inferred drug relations via UMLS66/NDF-RT44:
MalaCards organs/tissues related to Greenberg Skeletal Dysplasia:34
Bone, Skin, Pancreatic islet, Lung, Bone marrow
Articles related to Greenberg Skeletal Dysplasia:
Clinvar genetic disease variations for Greenberg Skeletal Dysplasia:5
Search GEO for disease gene expression data for Greenberg Skeletal Dysplasia.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet