MCID: GRN013
MIFTS: 34

Greenberg Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Greenberg Dysplasia

MalaCards integrated aliases for Greenberg Dysplasia:

Name: Greenberg Dysplasia 57 76 53 25 75 29 6 40
Hem Skeletal Dysplasia 57 25 75 37 13
Chondrodystrophy, Hydropic and Prenatally Lethal Type 57 25 75
Moth-Eaten Skeletal Dysplasia 57 25 75
Greenberg Skeletal Dysplasia 57 53 25
Hem Dysplasia 53 25 73
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia 57 75
Grbgd 57 75
Autosomal Recessive Lethal Chondrodystrophy with Congenital Hydrops 53
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia 25
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 53
Hydrops-Ectopic Calcification-Motheaten Syndrome 53
Skeletal Dysplasia, Greenberg Type 53
Hem/greenberg Dysplasia 53
Hem 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
fetal death


HPO:

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


Classifications:



Summaries for Greenberg Dysplasia

OMIM : 57 Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia. (215140)

MalaCards based summary : Greenberg Dysplasia, also known as hem skeletal dysplasia, is related to pelger-huet anomaly and smith-lemli-opitz syndrome. An important gene associated with Greenberg Dysplasia is LBR (Lamin B Receptor). The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include bone, lung and bone marrow, and related phenotypes are macrocephaly and malar flattening

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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. 

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.

Wikipedia : 76 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It... more...

Related Diseases for Greenberg Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 pelger-huet anomaly 11.6
2 smith-lemli-opitz syndrome 11.6
3 skeletal dysplasias 10.1
4 chondrodysplasia punctata syndrome 9.9

Symptoms & Phenotypes for Greenberg Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
large head

Head And Neck Ears:
low-set ears

Head And Neck Nose:
depressed nasal bridge

Skeletal Limbs:
micromelia
rhizomelia
mesomelia
epiphyseal punctate calcifications
moth-eaten (fragmented) long bones

Skeletal:
ectopic calcification
osteochondrodysplasia
precocious calcification
abnormal ossification centers
disorganization of the cartilage column
more
Respiratory Larynx:
laryngeal calcifications

Skeletal Skull:
deficient skull ossification

Skeletal Pelvis:
iliac apophysis, pubis and ischial punctate calcifications

Hematology:
extramedullary erythropoiesis

Laboratory Abnormalities:
elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts

Head And Neck Eyes:
hypertelorism

Abdomen Liver:
hepatomegaly

Head And Neck Face:
micrognathia
small maxilla

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
anterior rib punctate calcifications
sternal punctate calcifications

Chest External Features:
narrow thorax

Respiratory Airways:
tracheal calcifications

Skeletal Spine:
platyspondyly with multiple extra ossification centers

Skeletal Hands:
polydactyly, postaxial

Prenatal Manifestations:
severe hydrops


Clinical features from OMIM:

215140

Human phenotypes related to Greenberg Dysplasia:

32 (show top 50) (show all 79)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 malar flattening 32 HP:0000272
3 hypertelorism 32 HP:0000316
4 low-set ears 32 HP:0000369
5 hepatomegaly 32 HP:0002240
6 depressed nasal bridge 32 HP:0005280
7 bowing of the long bones 32 HP:0006487
8 cardiomegaly 32 HP:0001640
9 micrognathia 32 frequent (33%) HP:0000347
10 bone marrow hypocellularity 32 HP:0005528
11 narrow chest 32 frequent (33%) HP:0000774
12 platyspondyly 32 hallmark (90%) HP:0000926
13 micromelia 32 hallmark (90%) HP:0002983
14 lymphedema 32 hallmark (90%) HP:0001004
15 diaphyseal thickening 32 HP:0005019
16 epiphyseal stippling 32 HP:0010655
17 cystic hygroma 32 HP:0000476
18 abnormality of the calcaneus 32 HP:0008364
19 rhizomelia 32 hallmark (90%) HP:0008905
20 hypoplasia of the maxilla 32 HP:0000327
21 brachydactyly 32 hallmark (90%) HP:0001156
22 sandal gap 32 HP:0001852
23 polyhydramnios 32 HP:0001561
24 intestinal malrotation 32 HP:0002566
25 high forehead 32 HP:0000348
26 disproportionate short-limb short stature 32 HP:0008873
27 midface retrusion 32 frequent (33%) HP:0011800
28 preeclampsia 32 frequent (33%) HP:0100602
29 abnormal vertebral ossification 32 hallmark (90%) HP:0100569
30 hypoplastic fingernail 32 HP:0001804
31 postaxial hand polydactyly 32 HP:0001162
32 postaxial foot polydactyly 32 HP:0001830
33 omphalocele 32 HP:0001539
34 abnormal lung lobation 32 HP:0002101
35 misalignment of teeth 32 HP:0000692
36 broad palm 32 HP:0001169
37 decreased skull ossification 32 frequent (33%) HP:0004331
38 abnormality of cholesterol metabolism 32 HP:0003107
39 pulmonary hypoplasia 32 HP:0002089
40 hypoplastic vertebral bodies 32 HP:0008479
41 abnormal pelvis bone ossification 32 hallmark (90%) HP:0009106
42 pleural effusion 32 HP:0002202
43 short phalanx of finger 32 HP:0009803
44 hepatosplenomegaly 32 HP:0001433
45 barrel-shaped chest 32 HP:0001552
46 mesomelia 32 HP:0003027
47 abnormal joint morphology 32 HP:0001367
48 11 pairs of ribs 32 HP:0000878
49 pancreatic islet-cell hyperplasia 32 HP:0004510
50 absent toenail 32 HP:0001802

Drugs & Therapeutics for Greenberg Dysplasia

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


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

Interventional clinical trials:


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

Search NIH Clinical Center for Greenberg Dysplasia

Genetic Tests for Greenberg Dysplasia

Genetic tests related to Greenberg Dysplasia:

# Genetic test Affiliating Genes
1 Greenberg Dysplasia 29 LBR

Anatomical Context for Greenberg Dysplasia

MalaCards organs/tissues related to Greenberg Dysplasia:

41
Bone, Lung, Bone Marrow, Pancreatic Islet

Publications for Greenberg Dysplasia

Articles related to Greenberg Dysplasia:

# Title Authors Year
1
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. ( 21327084 )
2010
2
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-HA1nermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. ( 14684697 )
2003
3
Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature. ( 12210303 )
2002
4
Detailed ultrasonographic findings in Greenberg dysplasia. ( 11180245 )
2001
5
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. ( 11113916 )
2000
6
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. ( 8213919 )
1993

Variations for Greenberg Dysplasia

ClinVar genetic disease variations for Greenberg Dysplasia:

6
(show top 50) (show all 104)
# 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.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter) indel Pathogenic rs387906416 GRCh38 Chromosome 1, 225404486: 225404492
3 LBR NM_194442.2(LBR): c.1639A> G (p.Asn547Asp) single nucleotide variant Pathogenic rs587777171 GRCh37 Chromosome 1, 225592154: 225592154
4 LBR NM_194442.2(LBR): c.1639A> G (p.Asn547Asp) single nucleotide variant Pathogenic rs587777171 GRCh38 Chromosome 1, 225404452: 225404452
5 LBR NM_194442.2(LBR): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs587777172 GRCh37 Chromosome 1, 225591105: 225591105
6 LBR NM_194442.2(LBR): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs587777172 GRCh38 Chromosome 1, 225403403: 225403403
7 LBR NM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs) deletion Pathogenic rs863223326 GRCh37 Chromosome 1, 225611743: 225611746
8 LBR NM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs) deletion Pathogenic rs863223326 GRCh38 Chromosome 1, 225424041: 225424044
9 LBR NM_194442.2(LBR): c.1402delT (p.Tyr468Thrfs) deletion Pathogenic rs886037655 GRCh37 Chromosome 1, 225594447: 225594447
10 LBR NM_194442.2(LBR): c.1402delT (p.Tyr468Thrfs) deletion Pathogenic rs886037655 GRCh38 Chromosome 1, 225406745: 225406745
11 LBR NM_002296.3(LBR): c.1609T> G (p.Ser537Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80299691 GRCh37 Chromosome 1, 225592184: 225592184
12 LBR NM_002296.3(LBR): c.1609T> G (p.Ser537Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80299691 GRCh38 Chromosome 1, 225404482: 225404482
13 LBR NM_002296.3(LBR): c.461G> A (p.Ser154Asn) single nucleotide variant Benign rs2230419 GRCh38 Chromosome 1, 225419442: 225419442
14 LBR NM_002296.3(LBR): c.461G> A (p.Ser154Asn) single nucleotide variant Benign rs2230419 GRCh37 Chromosome 1, 225607144: 225607144
15 LBR NM_002296.3(LBR): c.261T> C (p.Pro87=) single nucleotide variant Benign rs1056608 GRCh37 Chromosome 1, 225609884: 225609884
16 LBR NM_002296.3(LBR): c.261T> C (p.Pro87=) single nucleotide variant Benign rs1056608 GRCh38 Chromosome 1, 225422182: 225422182
17 LBR NM_002296.3(LBR): c.117G> A (p.Val39=) single nucleotide variant Benign rs1056607 GRCh37 Chromosome 1, 225611661: 225611661
18 LBR NM_002296.3(LBR): c.117G> A (p.Val39=) single nucleotide variant Benign rs1056607 GRCh38 Chromosome 1, 225423959: 225423959
19 LBR NM_002296.3(LBR): c.*656G> A single nucleotide variant Uncertain significance rs80028106 GRCh38 Chromosome 1, 225402647: 225402647
20 LBR NM_002296.3(LBR): c.*656G> A single nucleotide variant Uncertain significance rs80028106 GRCh37 Chromosome 1, 225590349: 225590349
21 LBR NM_002296.3(LBR): c.*624T> A single nucleotide variant Uncertain significance rs886046050 GRCh38 Chromosome 1, 225402679: 225402679
22 LBR NM_002296.3(LBR): c.*624T> A single nucleotide variant Uncertain significance rs886046050 GRCh37 Chromosome 1, 225590381: 225590381
23 LBR NM_002296.3(LBR): c.1670C> T (p.Ala557Val) single nucleotide variant Uncertain significance rs202123513 GRCh38 Chromosome 1, 225404421: 225404421
24 LBR NM_002296.3(LBR): c.1670C> T (p.Ala557Val) single nucleotide variant Uncertain significance rs202123513 GRCh37 Chromosome 1, 225592123: 225592123
25 LBR NM_002296.3(LBR): c.1590G> A (p.Thr530=) single nucleotide variant Uncertain significance rs766271949 GRCh38 Chromosome 1, 225404501: 225404501
26 LBR NM_002296.3(LBR): c.1590G> A (p.Thr530=) single nucleotide variant Uncertain significance rs766271949 GRCh37 Chromosome 1, 225592203: 225592203
27 LBR NM_002296.3(LBR): c.959A> G (p.His320Arg) single nucleotide variant Uncertain significance rs201654506 GRCh38 Chromosome 1, 225412579: 225412579
28 LBR NM_002296.3(LBR): c.959A> G (p.His320Arg) single nucleotide variant Uncertain significance rs201654506 GRCh37 Chromosome 1, 225600281: 225600281
29 LBR NM_002296.3(LBR): c.951A> G (p.Val317=) single nucleotide variant Uncertain significance rs199748938 GRCh38 Chromosome 1, 225412587: 225412587
30 LBR NM_002296.3(LBR): c.951A> G (p.Val317=) single nucleotide variant Uncertain significance rs199748938 GRCh37 Chromosome 1, 225600289: 225600289
31 LBR NM_002296.3(LBR): c.607C> T (p.Arg203Trp) single nucleotide variant Uncertain significance rs775167348 GRCh37 Chromosome 1, 225606998: 225606998
32 LBR NM_002296.3(LBR): c.607C> T (p.Arg203Trp) single nucleotide variant Uncertain significance rs775167348 GRCh38 Chromosome 1, 225419296: 225419296
33 LBR NM_002296.3(LBR): c.206C> T (p.Ser69Phe) single nucleotide variant Uncertain significance rs369299493 GRCh37 Chromosome 1, 225609939: 225609939
34 LBR NM_002296.3(LBR): c.206C> T (p.Ser69Phe) single nucleotide variant Uncertain significance rs369299493 GRCh38 Chromosome 1, 225422237: 225422237
35 LBR NM_002296.3(LBR): c.-39G> C single nucleotide variant Uncertain significance rs553408012 GRCh38 Chromosome 1, 225427978: 225427978
36 LBR NM_002296.3(LBR): c.-39G> C single nucleotide variant Uncertain significance rs553408012 GRCh37 Chromosome 1, 225615680: 225615680
37 LBR NM_002296.3(LBR): c.-162G> A single nucleotide variant Uncertain significance rs879643716 GRCh38 Chromosome 1, 225428101: 225428101
38 LBR NM_002296.3(LBR): c.-162G> A single nucleotide variant Uncertain significance rs879643716 GRCh37 Chromosome 1, 225615803: 225615803
39 LBR NM_002296.3(LBR): c.*1361T> C single nucleotide variant Likely benign rs14205 GRCh38 Chromosome 1, 225401942: 225401942
40 LBR NM_002296.3(LBR): c.*1361T> C single nucleotide variant Likely benign rs14205 GRCh37 Chromosome 1, 225589644: 225589644
41 LBR NM_002296.3(LBR): c.*1305C> G single nucleotide variant Uncertain significance rs181244136 GRCh38 Chromosome 1, 225401998: 225401998
42 LBR NM_002296.3(LBR): c.*1305C> G single nucleotide variant Uncertain significance rs181244136 GRCh37 Chromosome 1, 225589700: 225589700
43 LBR NM_002296.3(LBR): c.*1200T> C single nucleotide variant Uncertain significance rs533835261 GRCh38 Chromosome 1, 225402103: 225402103
44 LBR NM_002296.3(LBR): c.*1200T> C single nucleotide variant Uncertain significance rs533835261 GRCh37 Chromosome 1, 225589805: 225589805
45 LBR NM_002296.3(LBR): c.*769A> T single nucleotide variant Uncertain significance rs75904736 GRCh38 Chromosome 1, 225402534: 225402534
46 LBR NM_002296.3(LBR): c.*769A> T single nucleotide variant Uncertain significance rs75904736 GRCh37 Chromosome 1, 225590236: 225590236
47 LBR NM_002296.3(LBR): c.*686A> G single nucleotide variant Uncertain significance rs886046049 GRCh37 Chromosome 1, 225590319: 225590319
48 LBR NM_002296.3(LBR): c.*686A> G single nucleotide variant Uncertain significance rs886046049 GRCh38 Chromosome 1, 225402617: 225402617
49 LBR NM_002296.3(LBR): c.*330T> G single nucleotide variant Likely benign rs16844841 GRCh38 Chromosome 1, 225402973: 225402973
50 LBR NM_002296.3(LBR): c.*330T> G single nucleotide variant Likely benign rs16844841 GRCh37 Chromosome 1, 225590675: 225590675

Expression for Greenberg Dysplasia

Search GEO for disease gene expression data for Greenberg Dysplasia.

Pathways for Greenberg Dysplasia

GO Terms for Greenberg Dysplasia

Sources for Greenberg Dysplasia

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9 Cosmic
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11 DGIdb
17 ExPASy
19 FMA
28 GO
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74 UMLS via Orphanet
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