HEM
MCID: HYD028
MIFTS: 37

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

Bone, Metabolic, Fetal categories

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

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 hemorrhagic fever and hereditary hemorrhagic telangiectasia, and has symptoms including autosomal recessive inheritance, pelvis anomaly/narrow/broad iliac wings/pubis abnormality and abnormal vertebral size/shape. 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.

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:64 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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


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 61
hem dysplasia 43 21 61
greenberg skeletal dysplasia 43 21
hem skeletal dysplasia 21 47
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
hemorrhage 61
hem 43


External Ids:

OMIM47 215140
MESH via Orphanet36 C537299
ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet58 389261002
UMLS via Orphanet62 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:

(show top 50)    (show all 1070)
idRelated DiseaseScoreTop Affiliating Genes
1hemorrhagic fever11.2
2hereditary hemorrhagic telangiectasia11.0
3dengue hemorrhagic fever11.0
4crimean-congo hemorrhagic fever10.9
5hemorrhage, intracerebral10.9
6diffuse alveolar hemorrhage10.8
7acute hemorrhagic conjunctivitis10.7
8acute conjunctivitis10.7
9arteriovenous malformation10.7
10stroke, hemorrhagic10.7
11cerebral amyloid angiopathy10.7
12pontine hemorrhage10.7
13smith-lemli-opitz syndrome10.6
14viral hemorrhagic fever10.6
15ebola hemorrhagic fever10.6
16argentine hemorrhagic fever10.6
17brain edema10.6
18stroke, ischemic10.5
19acute hemorrhagic leukoencephalitis10.5
20amyloidosis cerebral10.5
21hereditary amyloidosis10.5
22korean hemorrhagic fever10.5
23marburg hemorrhagic fever10.5
24intracranial aneurysm10.4
25pulmonary arteriovenous malformation10.4
26thrombocytopenia10.4
27hemophilia10.4
28brain injury10.4
29moyamoya disease10.4
30proctitis10.4
31radiation proctitis10.4
32bolivian hemorrhagic fever10.4
33leukomalacia10.4
34periventricular leukomalacia10.4
35telangiectasis10.4
36vasculitis10.4
37dengue shock syndrome10.4
38pituitary apoplexy10.3
39char syndrome10.3
40omsk hemorrhagic fever10.3
41antiphospholipid syndrome10.3
42leptospirosis10.3
43microscopic polyangiitis10.3
44polyarteritis nodosa10.3
45duodenal ulcer10.3
46pulmonary edema10.3
47systemic lupus erythematosus10.3
48hemorrhagic thrombocythemia10.3
49gastric ulcer10.3
50pilocytic astrocytoma10.3

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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

215140

Clinical synopsis from OMIM:

215140

Symptoms:

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

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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

Drug clinical trials:

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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 UMLS61/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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

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

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

Sources:
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

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

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

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

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet