HEM
MCID: HYD028
MIFTS: 36

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

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

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

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 smith-lemli-opitz syndrome and skeletal dysplasias, 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:22 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.

Wikipedia:66 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It... more...

Description from OMIM:48 215140

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

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
greenberg dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hydrops, ectopic calcification, moth-eaten skeletal dysplasia 44
greenberg dysplasia 44 21 23 22 50 63
greenberg skeletal dysplasia 44 22 48
hem dysplasia 44 22 63
autosomal recessive lethal chondrodystrophy with congenital hydrops 44
hydrops - ectopic calcification - moth-eaten skeletal dysplasia 22
chondrodystrophy, hydropic and prenatally lethal type 22
hydrops - ectopic calcification - motheaten 50
skeletal dysplasia, greenberg type 50
moth-eaten skeletal dysplasia 22
hem/greenberg dysplasia 44
hem skeletal dysplasia 22
hemorrhage 63
hem 44


External Ids:

OMIM48 215140
MESH via Orphanet37 C537299
ICD10 via Orphanet27 Q77.3
SNOMED-CT via Orphanet60 389261002
UMLS via Orphanet64 C1300226

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

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18GeneCards, 19GeneDecks
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Diseases related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1smith-lemli-opitz syndrome10.6
2skeletal dysplasias10.4
3chondrodysplasia10.2
4hemophilia b10.0
5porphyria10.0
6hemophilia a, congenital10.0
7lymphangiomatosis10.0
8angiomatosis10.0
9endotheliitis10.0

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



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

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

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

215140

Clinical features from OMIM:

215140

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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

Drug clinical trials:

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

Search NIH Clinical Center for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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

Inferred drug relations via UMLS63/NDF-RT42:

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

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21GeneTests, 23GTR
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Genetic tests related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

id Genetic test Affiliating Genes
1 Greenberg Dysplasia21 23 LBR

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

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34MalaCards
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MalaCards organs/tissues related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

34
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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Variations for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1LBRNM_194442.2(LBR): c.1639A> G (p.Asn547Asp)single nucleotide variantPathogenic/card/hydrops_ectopic_calcification_moth_eaten_skeletal_dysplasiaGRCh37Chr 1, 225592154: 225592154
2LBRNM_194442.2(LBR): c.1748G> A (p.Arg583Gln)single nucleotide variantPathogenic/card/hydrops_ectopic_calcification_moth_eaten_skeletal_dysplasiaGRCh37Chr 1, 225591105: 225591105
3LBRLBR, 4-BP DEL, 32TGGTdeletionPathogenic/card/hydrops_ectopic_calcification_moth_eaten_skeletal_dysplasia
4LBRLBR, 1-BP DEL, 1492TdeletionPathogenic/card/hydrops_ectopic_calcification_moth_eaten_skeletal_dysplasia
5LBRNM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter)indelPathogenicrs387906416GRCh37Chr 1, 225592188: 225592194

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

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2BioGPS, 16Gene 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
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  • Lysates
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet