GRBGD
MCID: GRN039
MIFTS: 35

Greenberg Skeletal Dysplasia (GRBGD) malady

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

Aliases & Classifications for Greenberg Skeletal Dysplasia

Aliases & Descriptions for Greenberg Skeletal Dysplasia:

Name: Greenberg Skeletal Dysplasia 54 50 25
Greenberg Dysplasia 54 50 24 25 56 66 29
Hem Dysplasia 50 25 56 69
Hem Skeletal Dysplasia 25 66 13
Chondrodystrophy, Hydropic and Prenatally Lethal Type 25 66
Hydrops-Ectopic Calcification-Motheaten Syndrome 50 56
Skeletal Dysplasia, Greenberg Type 50 56
Moth-Eaten Skeletal Dysplasia 25 66
Autosomal Recessive Lethal Chondrodystrophy with Congenital Hydrops 50
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia 25
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 50
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia 66
Chondrodystrophy, Hydropic, Prenatal Lethal Type 24
Hem/greenberg Dysplasia 50
Grbgd 66
Hem 50

Characteristics:

Orphanet epidemiological data:

56
greenberg dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal;

HPO:

32
greenberg skeletal dysplasia:
Mortality/Aging neonatal death stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 215140
Orphanet 56 ORPHA1426
MESH via Orphanet 43 C537299
UMLS via Orphanet 70 C1300226
ICD10 via Orphanet 34 Q77.3
MeSH 42 D010009

Summaries for Greenberg Skeletal Dysplasia

OMIM : 54 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 micrognathia, narrow chest and platyspondyly. An important gene associated with Greenberg Skeletal Dysplasia is LBR (Lamin B Receptor). The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung.

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 : 50 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 : 66 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 : 71 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It... more...

Related Diseases for Greenberg Skeletal Dysplasia

Diseases related to Greenberg Skeletal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pelger-huet anomaly 10.8
2 smith-lemli-opitz syndrome 10.8
3 hemophilia b 10.8
4 hemophilia a 10.8
5 porphyria 10.8
6 skeletal dysplasias 10.2
7 skeletal dysplasia 10.2

Graphical network of the top 20 diseases related to Greenberg Skeletal Dysplasia:



Diseases related to Greenberg Skeletal Dysplasia

Symptoms & Phenotypes for Greenberg Skeletal Dysplasia

Symptoms by clinical synopsis from OMIM:

215140

Clinical features from OMIM:

215140

Human phenotypes related to Greenberg Skeletal Dysplasia:

56 32 (show top 50) (show all 82)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 56 32 Frequent (79-30%) HP:0000347
2 narrow chest 56 32 Frequent (79-30%) HP:0000774
3 platyspondyly 56 32 Very frequent (99-80%) HP:0000926
4 micromelia 56 32 Very frequent (99-80%) HP:0002983
5 lymphedema 56 32 Very frequent (99-80%) HP:0001004
6 rhizomelia 56 32 Very frequent (99-80%) HP:0008905
7 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
8 midface retrusion 56 32 Frequent (79-30%) HP:0011800
9 preeclampsia 56 32 Frequent (79-30%) HP:0100602
10 abnormal vertebral ossification 56 32 Very frequent (99-80%) HP:0100569
11 abnormality of leukocytes 56 32 Very frequent (99-80%) HP:0001881
12 decreased skull ossification 56 32 Frequent (79-30%) HP:0004331
13 abnormal pelvis bone ossification 56 32 Very frequent (99-80%) HP:0009106
14 severe short-limb dwarfism 56 32 Very frequent (99-80%) HP:0008890
15 anterior rib punctate calcifications 56 32 Very frequent (99-80%) HP:0006619
16 hepatosplenomegaly 32 HP:0001433
17 macrocephaly 32 HP:0000256
18 malar flattening 32 HP:0000272
19 hypertelorism 32 HP:0000316
20 low-set ears 32 HP:0000369
21 hepatomegaly 32 HP:0002240
22 depressed nasal bridge 32 HP:0005280
23 bowing of the long bones 32 HP:0006487
24 cardiomegaly 32 HP:0001640
25 bone marrow hypocellularity 32 HP:0005528
26 abnormal form of the vertebral bodies 56 Very frequent (99-80%)
27 diaphyseal thickening 32 HP:0005019
28 epiphyseal stippling 32 HP:0010655
29 cystic hygroma 32 HP:0000476
30 abnormality of the calcaneus 32 HP:0008364
31 hypoplasia of the maxilla 32 HP:0000327
32 sandal gap 32 HP:0001852
33 abnormal bone ossification 56 Very frequent (99-80%)
34 polyhydramnios 32 HP:0001561
35 intestinal malrotation 32 HP:0002566
36 high forehead 32 HP:0000348
37 disproportionate short-limb short stature 32 HP:0008873
38 hypoplastic fingernail 32 HP:0001804
39 postaxial hand polydactyly 32 HP:0001162
40 postaxial foot polydactyly 32 HP:0001830
41 omphalocele 32 HP:0001539
42 skull defect 56 Frequent (79-30%)
43 abnormal lung lobation 32 HP:0002101
44 misalignment of teeth 32 HP:0000692
45 broad palm 32 HP:0001169
46 abnormality of cholesterol metabolism 32 HP:0003107
47 pulmonary hypoplasia 32 HP:0002089
48 hypoplastic vertebral bodies 32 HP:0008479
49 pleural effusion 32 HP:0002202
50 short phalanx of finger 32 HP:0009803

Drugs & Therapeutics for Greenberg Skeletal Dysplasia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Phytosterol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

Search NIH Clinical Center for Greenberg Skeletal Dysplasia

Genetic Tests for Greenberg Skeletal Dysplasia

Genetic tests related to Greenberg Skeletal Dysplasia:

id Genetic test Affiliating Genes
1 Greenberg Dysplasia 29 24 LBR

Anatomical Context for Greenberg Skeletal Dysplasia

MalaCards organs/tissues related to Greenberg Skeletal Dysplasia:

39
Bone, Skin, Lung, Bone Marrow, Pancreatic Islet

Publications for Greenberg Skeletal Dysplasia

Articles related to Greenberg Skeletal Dysplasia:

id Title Authors Year
1
Pelger-HuA<t anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. ( 27830109 )
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

ClinVar genetic disease variations for Greenberg Skeletal Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LBR NM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter) indel Pathogenic rs387906416 GRCh37 Chromosome 1, 225592188: 225592194
2 LBR NM_194442.2(LBR): c.1639A> G (p.Asn547Asp) single nucleotide variant Pathogenic rs587777171 GRCh37 Chromosome 1, 225592154: 225592154
3 LBR NM_194442.2(LBR): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs587777172 GRCh37 Chromosome 1, 225591105: 225591105
4 LBR NM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs) deletion Pathogenic rs863223326 GRCh37 Chromosome 1, 225611743: 225611746
5 LBR NM_194442.2(LBR): c.1402delT (p.Tyr468Thrfs) deletion Pathogenic rs886037655 GRCh37 Chromosome 1, 225594447: 225594447

Expression for Greenberg Skeletal Dysplasia

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

Pathways for Greenberg Skeletal Dysplasia

GO Terms for Greenberg Skeletal Dysplasia

Sources for Greenberg Skeletal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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