Greenberg Skeletal Dysplasia malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases
Aliases & Descriptions for Greenberg Skeletal Dysplasia:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; 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:49 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 limb undergrowth, abnormality of bone mineral density and short stature. 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 brain, liver and heart.
NIH Rare Diseases:45 Hem (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. according to the reported cases of hem in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands and feet, a "moth-eaten" appearance of the skeleton, flat vertebral bodies and ectopic calcifications. hem is an autosomal recessive condition caused by a mutation in the lamin b receptor (lbr) gene. no treatment or cure is currently known for hem. last updated: 7/17/2009
UniProtKB/Swiss-Prot:67 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.
Genetics Home Reference:23 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.
Wikipedia:68 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:51 (show all 16)
HPO human phenotypes related to Greenberg Skeletal Dysplasia:(show all 84)
UMLS symptoms related to Greenberg Skeletal Dysplasia:hepatomegaly, bleeding of eyebrows, easy bleeding, anal pain accompanied by bleeding, systemic symptoms, coffee ground vomiting, symptoms, blood in stool, nail bed hemorrhage, mucosal haemorrhage, gastrointestinal gas, mid-cycle bleeding, regular intermenstrual bleeding, bloody nipple discharge, vertigo/dizziness, bleeding/hemorrhage nos, blood in feces symptom, traumatic hematuria, blood discharge from ear, cullen's sign, intermenstrual heavy bleeding, umbilical bleeding, ovulation bleeding, muscle weakness, chronic pain, polydipsia, syncope, signs and symptoms, sciatica, pruritus, pelvic pain, pain, nausea and vomiting, hemorrhagic ascites, hemoptysis, hematocolpometra, hematemesis, heartburn, headache, halitosis, fatigue, dyspepsia, diarrhea, coughing, constipation, chest pain, abdominal pain
Drugs for Greenberg Skeletal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 1009)
Interventional clinical trials:(show top 50) (show all 5001)
Search NIH Clinical Center for Greenberg Skeletal Dysplasia
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Greenberg Skeletal Dysplasia:33
Brain, Liver, Heart, Bone, Lung, Testes, Placenta
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.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet