HEM
MCID: HYD028
MIFTS: 43

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia (HEM) malady

Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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

MalaCards: Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia, also known as greenberg dysplasia, is related to hemorrhagic disease and hereditary hemorrhagic telangiectasia, and has symptoms including maternal hypertension/eclampsia/preeclampsia/gravidic toxemia, narrow rib cage/thorax and micrognathia/retrognathia/micrognathism/retrognathism. An important gene associated with Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia is LBR (lamin B receptor). The drugs mesna and 6-aminocaproic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and skin.

Genetics Home Reference:21 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.

Wikipedia:63 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It... more...

Description from OMIM:46 215140

Aliases & Classifications for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
greenberg dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hydrops, ectopic calcification, moth-eaten skeletal dysplasia 42
greenberg dysplasia 42 20 22 21 48 60
hem dysplasia 42 21 60
greenberg skeletal dysplasia 42 21
hem skeletal dysplasia 21 46
autosomal recessive lethal chondrodystrophy with congenital hydrops 42
hydrops - ectopic calcification - moth-eaten skeletal dysplasia 21
chondrodystrophy, hydropic and prenatally lethal type 21
hydrops - ectopic calcification - motheaten 48
skeletal dysplasia, greenberg type 48
moth-eaten skeletal dysplasia 21
hemorrhage 60
hem 42


External Ids:

OMIM46 215140
MESH via Orphanet35 C537299
ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet57 389261002
UMLS via Orphanet61 C1300226

Related Diseases for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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Graphical network of the top 20 diseases related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:



Diseases related to hydrops, ectopic calcification, moth-eaten skeletal dysplasia

Clinical Features for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

215140

Clinical synopsis from OMIM:

215140

Symptoms:

48 (show all 16)
  • maternal hypertension/eclampsia/preeclampsia/gravidic toxemia
  • narrow rib cage/thorax
  • micrognathia/retrognathia/micrognathism/retrognathism
  • mid-facial hypoplasia/short/small midface
  • scalp/skull defect
  • poorly ossified skull/calvarium
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • red cell disorders
  • abnormal/absent ossification
  • lymphedema
  • short hand/brachydactyly
  • rhizomelic micromelia
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • abnormal vertebral size/shape
  • rib structure anomalies

Drugs & Therapeutics for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Drug clinical trials:

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Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

id Genetic test Affiliating Genes
1 Greenberg Dysplasia20 22 LBR

Anatomical Context for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

32
Bone, Skin

Animal Models for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia or affiliated genes

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Publications for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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Genetic Variations for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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Expression for genes affiliated with Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Search GEO for disease gene expression data for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia.

Pathways for genes affiliated with Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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Compounds for genes affiliated with Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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GO Terms for genes affiliated with Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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Products for genes affiliated with Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet