HEM
MCID: HYD028
MIFTS: 36

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

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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:21 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.

Wikipedia:65 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It... more...

Description from OMIM:47 215140

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

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS 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):

49
greenberg dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hydrops, ectopic calcification, moth-eaten skeletal dysplasia 43
greenberg dysplasia 43 20 22 21 49 62
greenberg skeletal dysplasia 43 21 47
hem dysplasia 43 21 62
autosomal recessive lethal chondrodystrophy with congenital hydrops 43
hydrops - ectopic calcification - moth-eaten skeletal dysplasia 21
chondrodystrophy, hydropic and prenatally lethal type 21
hydrops - ectopic calcification - motheaten 49
skeletal dysplasia, greenberg type 49
moth-eaten skeletal dysplasia 21
hem/greenberg dysplasia 43
hem skeletal dysplasia 21
hemorrhage 62
hem 43


External Ids:

OMIM47 215140
MESH via Orphanet36 C537299
ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet59 389261002
UMLS via Orphanet63 C1300226

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

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

215140

Clinical features from OMIM:

215140

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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

Inferred drug relations via UMLS62/NDF-RT41:

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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33MalaCards
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MalaCards organs/tissues related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

33
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, 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
  • Lysates
  • Antibodies

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

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet