HEM
MCID: HYD028
MIFTS: 37

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

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

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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 based summary: 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 rib structure anomalies, abnormal vertebral size/shape and pelvis anomaly/narrow/broad iliac wings/pubis abnormality. 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: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, 48Orphanet, 62UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia, Aliases & Descriptions:

Name: Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 42
Greenberg Dysplasia 42 20 22 21 48 62
Greenberg Skeletal Dysplasia 42 21 46 62
Hem Dysplasia 42 21 62
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia 21 62
Moth-Eaten Skeletal Dysplasia 21 62
Autosomal Recessive Lethal Chondrodystrophy with Congenital Hydrops 42
 
Chondrodystrophy, Hydropic and Prenatally Lethal Type 21
Hydrops - Ectopic Calcification - Motheaten 48
Skeletal Dysplasia, Greenberg Type 48
Hem/greenberg Dysplasia 42
Hem Skeletal Dysplasia 21
Hemorrhage 62
Hem 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 215140
MESH via Orphanet35 C537299
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet63 C1300226

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

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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 syndrome10.7
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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Symptoms by clinical synopsis from OMIM:

215140

Clinical features from OMIM:

215140

Symptoms:

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

HPO human phenotypes related to Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

(show all 86)
id Description Frequency HPO Source Accession
1 abnormality of the ribs hallmark (90%) HP:0000772
2 lymphedema hallmark (90%) HP:0001004
3 brachydactyly syndrome hallmark (90%) HP:0001156
4 abnormality of erythrocytes hallmark (90%) HP:0001877
5 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
6 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
7 short stature hallmark (90%) HP:0004322
8 abnormality of bone mineral density hallmark (90%) HP:0004348
9 limb undergrowth hallmark (90%) HP:0009826
10 malar flattening typical (50%) HP:0000272
11 micrognathia typical (50%) HP:0000347
12 narrow chest typical (50%) HP:0000774
13 skull defect typical (50%) HP:0001362
14 decreased skull ossification typical (50%) HP:0004331
15 toxemia of pregnancy typical (50%) HP:0100603
16 autosomal recessive inheritance HP:0000007
17 macrocephaly HP:0000256
18 malar flattening HP:0000272
19 hypertelorism HP:0000316
20 hypoplasia of the maxilla HP:0000327
21 micrognathia HP:0000347
22 high forehead HP:0000348
23 low-set ears HP:0000369
24 cystic hygroma HP:0000476
25 misalignment of teeth HP:0000692
26 short ribs HP:0000773
27 narrow chest HP:0000774
28 abnormality of the scapula HP:0000782
29 11 pairs of ribs HP:0000878
30 long clavicles HP:0000890
31 short diaphyses HP:0000941
32 postaxial hand polydactyly HP:0001162
33 broad palm HP:0001169
34 abnormal joint morphology HP:0001367
35 hepatosplenomegaly HP:0001433
36 omphalocele HP:0001539
37 barrel-shaped chest HP:0001552
38 polyhydramnios HP:0001561
39 cardiomegaly HP:0001640
40 nonimmune hydrops fetalis HP:0001790
41 absent toenail HP:0001802
42 hypoplastic fingernail HP:0001804
43 postaxial foot polydactyly HP:0001830
44 sandal gap HP:0001852
45 extramedullary hematopoiesis HP:0001978
46 pulmonary hypoplasia HP:0002089
47 abnormal lung lobation HP:0002101
48 pleural effusion HP:0002202
49 hepatomegaly HP:0002240
50 intestinal malrotation HP:0002566
51 sclerosis of skull base HP:0002694
52 tracheal calcification HP:0002787
53 micromelia HP:0002983
54 flared metaphyses HP:0003015
55 metaphyseal cupping HP:0003021
56 mesomelia HP:0003027
57 abnormality of cholesterol metabolism HP:0003107
58 horizontal sacrum HP:0003440
59 decreased skull ossification HP:0004331
60 pancreatic islet-cell hyperplasia HP:0004510
61 supernumerary vertebral ossification centers HP:0004598
62 absent or minimally ossified vertebral bodies HP:0004599
63 diaphyseal thickening HP:0005019
64 severe hydrops fetalis HP:0005099
65 depressed nasal bridge HP:0005280
66 bone marrow hypocellularity HP:0005528
67 lethal skeletal dysplasia HP:0005716
68 multiple prenatal fractures HP:0005855
69 bowing of the long bones HP:0006487
70 hepatic calcification HP:0006559
71 anterior rib punctate calcifications HP:0006619
72 sternal punctate calcifications HP:0006637
73 abnormality of the calcaneus HP:0008364
74 punctate vertebral calcifications HP:0008420
75 hypoplastic vertebral bodies HP:0008479
76 abnormality of the vertebral spinous processes HP:0008516
77 laryngeal calcification HP:0008754
78 disproportionate short-limb short stature HP:0008873
79 rhizomelia HP:0008905
80 abnormal pelvis bone ossification HP:0009106
81 abnormal ossification involving the femoral head and neck HP:0009107
82 ulnar deviation of the hand HP:0009487
83 short phalanx of finger HP:0009803
84 epiphyseal stippling HP:0010655
85 patchy variation in bone mineral density HP:0010659
86 abnormal foot bone ossification HP:0010675

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

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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-RT40:

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

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

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Clinvar genetic disease variations for Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1LBRNM_194442.2(LBR): c.1639A> G (p.Asn547Asp)single nucleotide variantPathogenicGRCh37Chr 1, 225592154: 225592154
2LBRNM_194442.2(LBR): c.1748G> A (p.Arg583Gln)single nucleotide variantPathogenicGRCh37Chr 1, 225591105: 225591105
3LBRLBR, 4-BP DEL, 32TGGTdeletionPathogenic
4LBRLBR, 1-BP DEL, 1492TdeletionPathogenic
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet