MCID: GRN039
MIFTS: 38

Greenberg Skeletal Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Greenberg Skeletal Dysplasia

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Greenberg Skeletal Dysplasia:

Name: Greenberg Skeletal Dysplasia 51 47 25
Greenberg Dysplasia 51 47 24 25 53 69 26
Hem Dysplasia 47 25 53 67
Hem Skeletal Dysplasia 25 69 12
Chondrodystrophy, Hydropic and Prenatally Lethal Type 25 69
Hydrops-Ectopic Calcification-Motheaten Syndrome 47 53
Skeletal Dysplasia, Greenberg Type 47 53
Moth-Eaten Skeletal Dysplasia 25 69
Autosomal Recessive Lethal Chondrodystrophy with Congenital Hydrops 47
 
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia 25
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 47
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia 69
Chondrodystrophy, Hydropic, Prenatal Lethal Type 24
Hem/greenberg Dysplasia 47
Hemorrhage 67
Grbgd 69
Hem 47

Characteristics:

Orphanet epidemiological data:

53
greenberg dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal

HPO:

63
greenberg skeletal dysplasia:
Inheritance: autosomal recessive inheritance
Mortality/Aging: neonatal death, stillbirth

Classifications:



External Ids:

OMIM51 215140
Orphanet53 ORPHA1426
MESH via Orphanet39 C537299
UMLS via Orphanet68 C1300226
ICD10 via Orphanet30 Q77.3
MeSH38 D010009

Summaries for Greenberg Skeletal Dysplasia

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OMIM:51 Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare... (215140) more...

MalaCards based summary: Greenberg Skeletal Dysplasia, also known as greenberg dysplasia, is related to pelger-huet anomaly and smith-lemli-opitz syndrome, and has symptoms including abnormality of the ribs, lymphedema and brachydactyly syndrome. An important gene associated with Greenberg Skeletal Dysplasia is LBR (Lamin B Receptor). The drugs mesna and cellulose, oxidized have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pancreatic islet.

Genetics Home Reference:25 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.

NIH Rare Diseases:47 Greenberg dysplasia is a very severe disorder that that affects the bones. It is called a skeletal dysplasia because the bones do not develop properly. This condition is sometimes called HEM based on the main features of Hydrops fetalis, Ectopic calcifications, and Moth-eaten appearance of the skeleton. Greenberg dysplasia is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene. Because of the very severe symptoms of Greenberg dysplasia, fetuses with this condition do not survive until birth.  Last updated: 8/24/2016

UniProtKB/Swiss-Prot:69 Greenberg dysplasia: A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers.

Wikipedia:70 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It... more...

Related Diseases for Greenberg Skeletal Dysplasia

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Graphical network of diseases related to Greenberg Skeletal Dysplasia:



Diseases related to greenberg skeletal dysplasia

Symptoms for Greenberg Skeletal Dysplasia

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Symptoms by clinical synopsis from OMIM:

215140

Clinical features from OMIM:

215140

Human phenotypes related to Greenberg Skeletal Dysplasia:

 63 53 (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ribs63 hallmark (90%) HP:0000772
2 lymphedema63 53 hallmark (90%) Very frequent (99-80%) HP:0001004
3 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
4 abnormality of erythrocytes63 hallmark (90%) HP:0001877
5 abnormality of pelvic girdle bone morphology63 hallmark (90%) HP:0002644
6 short stature63 hallmark (90%) HP:0004322
7 abnormality of bone mineral density63 hallmark (90%) HP:0004348
8 limb undergrowth63 hallmark (90%) HP:0009826
9 malar flattening63 typical (50%) HP:0000272
10 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
11 narrow chest63 53 typical (50%) Frequent (79-30%) HP:0000774
12 calvarial skull defect63 typical (50%) HP:0001362
13 decreased skull ossification63 53 typical (50%) Frequent (79-30%) HP:0004331
14 toxemia of pregnancy63 typical (50%) HP:0100603
15 macrocephaly63 HP:0000256
16 hypertelorism63 HP:0000316
17 hypoplasia of the maxilla63 HP:0000327
18 high forehead63 HP:0000348
19 low-set ears63 HP:0000369
20 cystic hygroma63 HP:0000476
21 misalignment of teeth63 HP:0000692
22 short ribs63 HP:0000773
23 abnormality of the scapula63 HP:0000782
24 11 pairs of ribs63 HP:0000878
25 long clavicles63 HP:0000890
26 short diaphyses63 HP:0000941
27 postaxial hand polydactyly63 HP:0001162
28 broad palm63 HP:0001169
29 abnormal joint morphology63 HP:0001367
30 hepatosplenomegaly63 HP:0001433
31 omphalocele63 HP:0001539
32 barrel-shaped chest63 HP:0001552
33 polyhydramnios63 HP:0001561
34 cardiomegaly63 HP:0001640
35 nonimmune hydrops fetalis63 HP:0001790
36 absent toenail63 HP:0001802
37 hypoplastic fingernail63 HP:0001804
38 postaxial foot polydactyly63 HP:0001830
39 sandal gap63 HP:0001852
40 extramedullary hematopoiesis63 HP:0001978
41 pulmonary hypoplasia63 HP:0002089
42 abnormal lung lobation63 HP:0002101
43 pleural effusion63 HP:0002202
44 hepatomegaly63 HP:0002240
45 intestinal malrotation63 HP:0002566
46 sclerosis of skull base63 HP:0002694
47 tracheal calcification63 HP:0002787
48 micromelia63 53 Very frequent (99-80%) HP:0002983
49 flared metaphysis63 HP:0003015
50 metaphyseal cupping63 HP:0003021
51 mesomelia63 HP:0003027
52 abnormality of cholesterol metabolism63 HP:0003107
53 horizontal sacrum63 HP:0003440
54 pancreatic islet-cell hyperplasia63 HP:0004510
55 supernumerary vertebral ossification centers63 HP:0004598
56 absent or minimally ossified vertebral bodies63 HP:0004599
57 diaphyseal thickening63 HP:0005019
58 severe hydrops fetalis63 HP:0005099
59 depressed nasal bridge63 HP:0005280
60 bone marrow hypocellularity63 HP:0005528
61 lethal skeletal dysplasia63 HP:0005716
62 multiple prenatal fractures63 HP:0005855
63 bowing of the long bones63 HP:0006487
64 hepatic calcification63 HP:0006559
65 anterior rib punctate calcifications63 53 Very frequent (99-80%) HP:0006619
66 sternal punctate calcifications63 HP:0006637
67 abnormality of the calcaneus63 HP:0008364
68 punctate vertebral calcifications63 HP:0008420
69 hypoplastic vertebral bodies63 HP:0008479
70 abnormality of the vertebral spinous processes63 HP:0008516
71 laryngeal calcification63 HP:0008754
72 disproportionate short-limb short stature63 HP:0008873
73 rhizomelia63 53 Very frequent (99-80%) HP:0008905
74 abnormal pelvis bone ossification63 53 Very frequent (99-80%) HP:0009106
75 abnormal ossification involving the femoral head and neck63 HP:0009107
76 ulnar deviation of the hand63 HP:0009487
77 short phalanx of finger63 HP:0009803
78 epiphyseal stippling63 HP:0010655
79 patchy variation in bone mineral density63 HP:0010659
80 abnormal foot bone ossification63 HP:0010675
81 platyspondyly53 Very frequent (99-80%)
82 skull defect53 Frequent (79-30%)
83 abnormality of leukocytes53 Very frequent (99-80%)
84 abnormal form of the vertebral bodies53 Very frequent (99-80%)
85 severe short-limb dwarfism53 Very frequent (99-80%)
86 midface retrusion53 Frequent (79-30%)
87 abnormal bone ossification53 Very frequent (99-80%)
88 abnormal vertebral ossification53 Very frequent (99-80%)
89 preeclampsia53 Frequent (79-30%)

UMLS symptoms related to Greenberg Skeletal Dysplasia:


abdominal pain, chest pain, constipation, coughing, diarrhea, dyspepsia, fatigue, halitosis, headache, heartburn, hematemesis, hematocolpometra, hemoptysis, hemorrhagic ascites, nausea and vomiting, pain, pelvic pain, pruritus, sciatica, signs and symptoms, syncope, polydipsia, chronic pain, muscle weakness, ovulation bleeding, umbilical bleeding, intermenstrual heavy bleeding, cullen's sign, blood discharge from ear, traumatic hematuria, blood in feces symptom, bleeding/hemorrhage nos, vertigo/dizziness, bloody nipple discharge, regular intermenstrual bleeding, mid-cycle bleeding, gastrointestinal gas, mucosal haemorrhage, nail bed hemorrhage, blood in stool, symptoms, coffee ground vomiting, systemic symptoms, anal pain accompanied by bleeding, easy bleeding, bleeding of eyebrows, hepatomegaly

Drugs & Therapeutics for Greenberg Skeletal Dysplasia

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Drugs for Greenberg Skeletal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PhytosterolNutraceutical115

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Inborn Errors of Cholesterol Synthesis and Related DisordersRecruitingNCT00046202

Search NIH Clinical Center for Greenberg Skeletal Dysplasia

Inferred drug relations via UMLS67/NDF-RT45:

Genetic Tests for Greenberg Skeletal Dysplasia

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Genetic tests related to Greenberg Skeletal Dysplasia:

id Genetic test Affiliating Genes
1 Greenberg Dysplasia26 24 LBR

Anatomical Context for Greenberg Skeletal Dysplasia

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MalaCards organs/tissues related to Greenberg Skeletal Dysplasia:

35
Bone, Skin, Pancreatic islet, Lung, Bone marrow

Animal Models for Greenberg Skeletal Dysplasia or affiliated genes

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Publications for Greenberg Skeletal Dysplasia

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Articles related to Greenberg Skeletal Dysplasia:

idTitleAuthorsYear
1
Pelger-HuA27830109)
2016
2
Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo. (23565302)
2013
3
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. (18382993)
2008
4
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. (12618959)
2003

Variations for Greenberg Skeletal Dysplasia

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Clinvar genetic disease variations for Greenberg Skeletal Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LBRNM_194442.2(LBR): c.1639A> G (p.Asn547Asp)SNVPathogenicrs587777171GRCh37Chr 1, 225592154: 225592154
2LBRNM_194442.2(LBR): c.1748G> A (p.Arg583Gln)SNVPathogenicrs587777172GRCh37Chr 1, 225591105: 225591105
3LBRNM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs)deletionPathogenicrs863223326GRCh37Chr 1, 225611743: 225611746
4LBRNM_194442.2(LBR): c.1402delT (p.Tyr468Thrfs)deletionPathogenicrs886037655GRCh37Chr 1, 225594447: 225594447
5LBRNM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter)indelPathogenicrs387906416GRCh37Chr 1, 225592188: 225592194

Expression for genes affiliated with Greenberg Skeletal Dysplasia

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Search GEO for disease gene expression data for Greenberg Skeletal Dysplasia.

Pathways for genes affiliated with Greenberg Skeletal Dysplasia

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GO Terms for genes affiliated with Greenberg Skeletal Dysplasia

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Sources for Greenberg Skeletal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet