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

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Greenberg Skeletal Dysplasia:

Name: Greenberg Skeletal Dysplasia 52 48 25
Greenberg Dysplasia 52 48 24 25 54 70 27
Hem Dysplasia 48 25 54 68
Hem Skeletal Dysplasia 25 70 12
Chondrodystrophy, Hydropic and Prenatally Lethal Type 25 70
Hydrops-Ectopic Calcification-Motheaten Syndrome 48 54
Skeletal Dysplasia, Greenberg Type 48 54
Moth-Eaten Skeletal Dysplasia 25 70
 
Autosomal Recessive Lethal Chondrodystrophy with Congenital Hydrops 48
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia 25
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 48
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia 70
Chondrodystrophy, Hydropic, Prenatal Lethal Type 24
Hem/greenberg Dysplasia 48
Grbgd 70
Hem 48

Characteristics:

Orphanet epidemiological data:

54
greenberg dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal

HPO:

64
greenberg skeletal dysplasia:
Inheritance: autosomal recessive inheritance
Mortality/Aging: neonatal death, stillbirth

Classifications:



External Ids:

OMIM52 215140
Orphanet54 ORPHA1426
MESH via Orphanet40 C537299
UMLS via Orphanet69 C1300226
ICD10 via Orphanet31 Q77.3
MeSH39 D010009

Summaries for Greenberg Skeletal Dysplasia

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OMIM:52 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 Array, Array and Array. An important gene associated with Greenberg Skeletal Dysplasia is LBR (Lamin B Receptor). 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:48 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:70 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

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

idRelated DiseaseScoreTop Affiliating Genes
1pelger-huet anomaly10.8
2smith-lemli-opitz syndrome10.8
3hemophilia b10.8
4hemophilia a10.8
5porphyria10.8
6skeletal dysplasias10.2
7skeletal dysplasia10.2

Graphical network of diseases related to Greenberg Skeletal Dysplasia:



Diseases related to greenberg skeletal dysplasia

Symptoms & Phenotypes 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:

 54 64 (show all 82)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia64 54 Frequent (79-30%) HP:0000347
2 narrow chest64 54 Frequent (79-30%) HP:0000774
3 platyspondyly64 54 Very frequent (99-80%) HP:0000926
4 lymphedema64 54 Very frequent (99-80%) HP:0001004
5 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
6 skull defect54 Frequent (79-30%)
7 abnormality of leukocytes64 54 Very frequent (99-80%) HP:0001881
8 micromelia64 54 Very frequent (99-80%) HP:0002983
9 abnormal form of the vertebral bodies54 Very frequent (99-80%)
10 decreased skull ossification64 54 Frequent (79-30%) HP:0004331
11 anterior rib punctate calcifications64 54 Very frequent (99-80%) HP:0006619
12 severe short-limb dwarfism64 54 Very frequent (99-80%) HP:0008890
13 rhizomelia64 54 Very frequent (99-80%) HP:0008905
14 abnormal pelvis bone ossification64 54 Very frequent (99-80%) HP:0009106
15 midface retrusion64 54 Frequent (79-30%) HP:0011800
16 abnormal bone ossification54 Very frequent (99-80%)
17 abnormal vertebral ossification64 54 Very frequent (99-80%) HP:0100569
18 preeclampsia64 54 Frequent (79-30%) HP:0100602
19 macrocephaly64 HP:0000256
20 malar flattening64 HP:0000272
21 hypertelorism64 HP:0000316
22 hypoplasia of the maxilla64 HP:0000327
23 high forehead64 HP:0000348
24 low-set ears64 HP:0000369
25 cystic hygroma64 HP:0000476
26 misalignment of teeth64 HP:0000692
27 short ribs64 HP:0000773
28 abnormality of the scapula64 HP:0000782
29 11 pairs of ribs64 HP:0000878
30 long clavicles64 HP:0000890
31 short diaphyses64 HP:0000941
32 postaxial hand polydactyly64 HP:0001162
33 broad palm64 HP:0001169
34 abnormal joint morphology64 HP:0001367
35 hepatosplenomegaly64 HP:0001433
36 omphalocele64 HP:0001539
37 barrel-shaped chest64 HP:0001552
38 polyhydramnios64 HP:0001561
39 cardiomegaly64 HP:0001640
40 nonimmune hydrops fetalis64 HP:0001790
41 absent toenail64 HP:0001802
42 hypoplastic fingernail64 HP:0001804
43 postaxial foot polydactyly64 HP:0001830
44 sandal gap64 HP:0001852
45 extramedullary hematopoiesis64 HP:0001978
46 pulmonary hypoplasia64 HP:0002089
47 abnormal lung lobation64 HP:0002101
48 pleural effusion64 HP:0002202
49 hepatomegaly64 HP:0002240
50 intestinal malrotation64 HP:0002566
51 sclerosis of skull base64 HP:0002694
52 tracheal calcification64 HP:0002787
53 flared metaphysis64 HP:0003015
54 metaphyseal cupping64 HP:0003021
55 mesomelia64 HP:0003027
56 abnormality of cholesterol metabolism64 HP:0003107
57 horizontal sacrum64 HP:0003440
58 pancreatic islet-cell hyperplasia64 HP:0004510
59 supernumerary vertebral ossification centers64 HP:0004598
60 absent or minimally ossified vertebral bodies64 HP:0004599
61 diaphyseal thickening64 HP:0005019
62 severe hydrops fetalis64 HP:0005099
63 depressed nasal bridge64 HP:0005280
64 bone marrow hypocellularity64 HP:0005528
65 lethal skeletal dysplasia64 HP:0005716
66 multiple prenatal fractures64 HP:0005855
67 bowing of the long bones64 HP:0006487
68 hepatic calcification64 HP:0006559
69 sternal punctate calcifications64 HP:0006637
70 abnormality of the calcaneus64 HP:0008364
71 punctate vertebral calcifications64 HP:0008420
72 hypoplastic vertebral bodies64 HP:0008479
73 abnormality of the vertebral spinous processes64 HP:0008516
74 laryngeal calcification64 HP:0008754
75 disproportionate short-limb short stature64 HP:0008873
76 abnormal ossification involving the femoral head and neck64 HP:0009107
77 ulnar deviation of the hand64 HP:0009487
78 short phalanx of finger64 HP:0009803
79 epiphyseal stippling64 HP:0010655
80 patchy variation in bone mineral density64 HP:0010659
81 abnormal foot bone ossification64 HP:0010675
82 calvarial skull defect64 HP:0001362

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
1PhytosterolNutraceutical118

Interventional clinical trials:

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

Search NIH Clinical Center for Greenberg Skeletal Dysplasia

Genetic Tests for Greenberg Skeletal Dysplasia

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Genetic tests related to Greenberg Skeletal Dysplasia:

id Genetic test Affiliating Genes
1 Greenberg Dysplasia27 24 LBR

Anatomical Context for Greenberg Skeletal Dysplasia

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MalaCards organs/tissues related to Greenberg Skeletal Dysplasia:

36
Bone, Skin, Pancreatic islet, Lung, Bone marrow

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet