GRBGD
MCID: GRN013
MIFTS: 54

Greenberg Dysplasia (GRBGD)

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

Aliases & Classifications for Greenberg Dysplasia

MalaCards integrated aliases for Greenberg Dysplasia:

Name: Greenberg Dysplasia 57 12 73 20 43 58 72 29 6 15 39
Hem Dysplasia 12 20 43 58 44 70
Hem Skeletal Dysplasia 57 43 72 36 13
Greenberg Skeletal Dysplasia 57 12 20 43
Chondrodystrophy, Hydropic and Prenatally Lethal Type 57 43 72
Hydrops-Ectopic Calcification-Motheaten Syndrome 12 20 58
Skeletal Dysplasia, Greenberg Type 12 20 58
Moth-Eaten Skeletal Dysplasia 57 43 72
Grbgd 57 12 72
Autosomal Recessive Lethal Chondrodystrophy with Congenital Hydrops 12 20
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 12 20
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia 57 72
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia 43
Hem/greenberg Dysplasia 20
Hem 20

Characteristics:

Orphanet epidemiological data:

58
greenberg dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
fetal death


HPO:

31
greenberg dysplasia:
Onset and clinical course neonatal death stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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) (Updated 05-Apr-2021)

MalaCards based summary : Greenberg Dysplasia, also known as hem dysplasia, is related to smith-lemli-opitz syndrome and chondrodysplasia punctata syndrome. An important gene associated with Greenberg Dysplasia is LBR (Lamin B Receptor), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prophase. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are lymphedema and brachydactyly

Disease Ontology : 12 An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has material basis in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.

MedlinePlus Genetics : 43 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features.

GARD : 20 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.

KEGG : 36 Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is inherited as an autosomal recessive trait. Homozygous mutation in LBR is the cause of HEM/Greenberg skeletal dysplasia.

UniProtKB/Swiss-Prot : 72 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 : 73 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis.... more...

Related Diseases for Greenberg Dysplasia

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

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 smith-lemli-opitz syndrome 32.4 MSMO1 EBP DHCR7
2 chondrodysplasia punctata syndrome 30.4 MSMO1 EBP
3 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 30.2 MSMO1 EBP DHCR7
4 odontochondrodysplasia 29.6 TRIP11 LEMD3 LBR EBP
5 laminopathy 28.8 SYNE2 SUN2 SUN1 LMNB2 LMNA EMD
6 pelger-huet anomaly 28.2 TM7SF2 SYNE2 SYNE1 SUN1 LMNB2 LMNB1
7 hemophilia a 10.9
8 hemophilia b 10.9
9 porphyria 10.9
10 appendicitis 10.2
11 hydrops fetalis, nonimmune 10.2
12 lymphatic malformation 7 10.2
13 astley-kendall syndrome 10.1
14 melorheostosis 10.1 LEMD3 EMD
15 first-degree atrioventricular block 10.1 LMNA EMD
16 ck syndrome 10.1 TM7SF2 MSMO1 EBP
17 nonencapsulated sclerosing carcinoma 10.1 LMNB2 LMNB1 LMNA
18 autosomal dominant limb-girdle muscular dystrophy 10.0 LMNA EMD
19 wiskott-aldrich syndrome 10.0
20 cholecystolithiasis 10.0
21 choledocholithiasis 10.0
22 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.0 SYNE2 LMNA
23 x-linked chondrodysplasia punctata 2 10.0 MSMO1 EBP DHCR7
24 muscular disease 10.0 LMNB2 LMNA EMD
25 skin atrophy 10.0 LMNA EBP
26 spondyloepimetaphyseal dysplasia, strudwick type 10.0
27 chondrodysplasia punctata 2, x-linked dominant 10.0
28 polydactyly 10.0
29 omphalocele 10.0
30 cystic lymphangioma 10.0
31 polyhydramnios 10.0
32 dwarfism 10.0
33 hygroma cervical 10.0
34 splenomegaly 10.0
35 renal cell carcinoma, nonpapillary 9.9
36 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
37 hydronephrosis 9.9
38 corneal neovascularization 9.9
39 rectum cancer 9.9
40 angiomyolipoma 9.9
41 chronic kidney disease 9.9
42 cholangitis 9.9
43 virus-associated trichodysplasia spinulosa 9.9
44 pelger-huet anomaly with mild skeletal anomalies 9.9
45 ichthyosis 9.9
46 primary hyperoxaluria 9.9 LMNB2 LMNB1 LMNA LBR
47 lipodystrophy, familial partial, type 5 9.9 LMNB2 LMNB1 LMNA EMD
48 muscle tissue disease 9.9 LMNB2 LMNB1 LMNA EMD
49 emerinopathy 9.9 SUN2 LMNA EMD
50 bladder cancer 9.8

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



Diseases related to Greenberg Dysplasia

Symptoms & Phenotypes for Greenberg Dysplasia

Human phenotypes related to Greenberg Dysplasia:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
2 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
3 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
5 abnormally ossified vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0100569
6 abnormal leukocyte morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001881
7 abnormal pelvis bone ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0009106
8 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
9 severe short-limb dwarfism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008890
10 anterior rib punctate calcifications 58 31 hallmark (90%) Very frequent (99-80%) HP:0006619
11 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
12 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
13 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
14 decreased skull ossification 58 31 frequent (33%) Frequent (79-30%) HP:0004331
15 preeclampsia 58 31 frequent (33%) Frequent (79-30%) HP:0100602
16 calvarial skull defect 31 frequent (33%) HP:0001362
17 macrocephaly 31 HP:0000256
18 hepatomegaly 31 HP:0002240
19 depressed nasal bridge 31 HP:0005280
20 hypertelorism 31 HP:0000316
21 bowing of the long bones 31 HP:0006487
22 cardiomegaly 31 HP:0001640
23 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
24 diaphyseal thickening 31 HP:0005019
25 epiphyseal stippling 31 HP:0010655
26 low-set ears 31 HP:0000369
27 cystic hygroma 31 HP:0000476
28 hypoplasia of the maxilla 31 HP:0000327
29 sandal gap 31 HP:0001852
30 polyhydramnios 31 HP:0001561
31 malar flattening 31 HP:0000272
32 intestinal malrotation 31 HP:0002566
33 high forehead 31 HP:0000348
34 skull defect 58 Frequent (79-30%)
35 hypoplastic fingernail 31 HP:0001804
36 omphalocele 31 HP:0001539
37 postaxial hand polydactyly 31 HP:0001162
38 postaxial foot polydactyly 31 HP:0001830
39 misalignment of teeth 31 HP:0000692
40 abnormal lung lobation 31 HP:0002101
41 disproportionate short-limb short stature 31 HP:0008873
42 broad palm 31 HP:0001169
43 bone marrow hypocellularity 31 HP:0005528
44 pulmonary hypoplasia 31 HP:0002089
45 hypoplastic vertebral bodies 31 HP:0008479
46 pleural effusion 31 HP:0002202
47 abnormality of the calcaneus 31 HP:0008364
48 hepatosplenomegaly 31 HP:0001433
49 short phalanx of finger 31 HP:0009803
50 abnormal joint morphology 31 HP:0001367

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
large head

Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
micrognathia
small maxilla

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

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
hypertelorism

Head And Neck Ears:
low-set ears

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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Greenberg Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 EMD LBR LEMD3 LMNA LMNB1 LMNB2
2 growth/size/body region MP:0005378 10.11 DHCR7 EBP LBR LMNA LMNB1 LMNB2
3 mortality/aging MP:0010768 10.07 DHCR7 EBP LBR LEMD3 LMNA LMNB1
4 homeostasis/metabolism MP:0005376 10.06 DHCR7 EMD LBR LMNA LMNB1 LMNB2
5 craniofacial MP:0005382 9.88 DHCR7 LBR LMNA LMNB1 TM7SF2 TRIP11
6 muscle MP:0005369 9.81 DHCR7 EMD LMNA LMNB1 LMNB2 SUN1
7 nervous system MP:0003631 9.7 DHCR7 LBR LMNA LMNB1 LMNB2 SUN1
8 respiratory system MP:0005388 9.23 DHCR7 LBR LMNA LMNB1 LMNB2 SYNE1

Drugs & Therapeutics for Greenberg Dysplasia

Search Clinical Trials , NIH Clinical Center for Greenberg Dysplasia

Cochrane evidence based reviews: hem 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:

40
Bone, Bone Marrow, Lung, Pancreatic Islet, Liver

Publications for Greenberg Dysplasia

Articles related to Greenberg Dysplasia:

(show all 24)
# Title Authors PMID Year
1
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. 57 61 20 6
18382993 2008
2
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. 57 6 61
21327084 2010
3
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. 61 6 57
14684697 2003
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. 57 6
12618959 2003
5
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. 61 57
17403717 2007
6
Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature. 61 57
12210303 2002
7
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. 61 57
11113916 2000
8
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. 61 57
8213919 1993
9
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. 6
27336722 2016
10
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. 6
27830109 2016
11
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. 57
12668600 2003
12
A new autosomal recessive lethal chondrodystrophy with congenital hydrops. 57
3377005 1988
13
A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly. 61
32827848 2020
14
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders. 61
32304187 2020
15
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. 61
30448303 2019
16
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 61
30561119 2019
17
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 61
25646736 2015
18
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 61
25348816 2015
19
Malformation syndromes caused by disorders of cholesterol synthesis. 61
20929975 2011
20
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. 61
15580635 2005
21
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. 61
14684694 2003
22
Human malformation syndromes due to inborn errors of cholesterol synthesis. 61
14631207 2003
23
Inborn errors of sterol biosynthesis. 61
11701653 2001
24
Detailed ultrasonographic findings in Greenberg dysplasia. 61
11180245 2001

Variations for Greenberg Dysplasia

ClinVar genetic disease variations for Greenberg Dysplasia:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LBR NM_002296.4(LBR):c.1748G>A (p.Arg583Gln) SNV Pathogenic 100901 rs587777172 GRCh37: 1:225591105-225591105
GRCh38: 1:225403403-225403403
2 LBR NM_002296.4(LBR):c.32_35del (p.Val11fs) Deletion Pathogenic 100902 rs863223326 GRCh37: 1:225611743-225611746
GRCh38: 1:225424041-225424044
3 LBR NM_002296.4(LBR):c.1402del (p.Tyr468fs) Deletion Pathogenic 100903 rs886037655 GRCh37: 1:225594447-225594447
GRCh38: 1:225406745-225406745
4 LBR NM_002296.4(LBR):c.226C>T (p.Arg76Ter) SNV Pathogenic 224876 rs869312905 GRCh37: 1:225609919-225609919
GRCh38: 1:225422217-225422217
5 LBR NM_002296.4(LBR):c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer) Indel Pathogenic 9529 rs387906416 GRCh37: 1:225592188-225592194
GRCh38: 1:225404486-225404492
6 LBR NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) SNV Pathogenic 224875 rs374343844 GRCh37: 1:225592153-225592153
GRCh38: 1:225404451-225404451
7 LBR NM_002296.4(LBR):c.1639A>G (p.Asn547Asp) SNV Likely pathogenic 100900 rs587777171 GRCh37: 1:225592154-225592154
GRCh38: 1:225404452-225404452
8 LBR NM_002296.4(LBR):c.1324T>C (p.Leu442=) SNV Uncertain significance 295934 rs61749338 GRCh37: 1:225594525-225594525
GRCh38: 1:225406823-225406823
9 LBR NM_002296.4(LBR):c.1366C>G (p.Leu456Val) SNV Uncertain significance 426800 rs377110126 GRCh37: 1:225594483-225594483
GRCh38: 1:225406781-225406781
10 LBR NM_002296.4(LBR):c.1828A>G (p.Ile610Val) SNV Uncertain significance 295929 rs886046051 GRCh37: 1:225591025-225591025
GRCh38: 1:225403323-225403323
11 LBR NM_002296.4(LBR):c.607C>T (p.Arg203Trp) SNV Uncertain significance 295945 rs775167348 GRCh37: 1:225606998-225606998
GRCh38: 1:225419296-225419296
12 LBR NM_002296.4(LBR):c.*624T>A SNV Uncertain significance 295926 rs886046050 GRCh37: 1:225590381-225590381
GRCh38: 1:225402679-225402679
13 LBR NM_002296.4(LBR):c.790C>T (p.Leu264=) SNV Uncertain significance 295942 rs140355742 GRCh37: 1:225605733-225605733
GRCh38: 1:225418031-225418031
14 LBR NM_002296.4(LBR):c.357G>A (p.Pro119=) SNV Uncertain significance 877056 GRCh37: 1:225609788-225609788
GRCh38: 1:225422086-225422086
15 LBR NM_002296.4(LBR):c.353C>T (p.Thr118Ile) SNV Uncertain significance 877057 GRCh37: 1:225609792-225609792
GRCh38: 1:225422090-225422090
16 LBR NM_002296.4(LBR):c.312C>T (p.Ala104=) SNV Uncertain significance 725544 rs146953852 GRCh37: 1:225609833-225609833
GRCh38: 1:225422131-225422131
17 LBR NM_002296.4(LBR):c.287G>A (p.Arg96Gln) SNV Uncertain significance 877058 GRCh37: 1:225609858-225609858
GRCh38: 1:225422156-225422156
18 LBR NM_002296.4(LBR):c.271C>T (p.Pro91Ser) SNV Uncertain significance 748574 rs201003932 GRCh37: 1:225609874-225609874
GRCh38: 1:225422172-225422172
19 LBR NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) SNV Uncertain significance 9533 rs200180113 GRCh37: 1:225599113-225599113
GRCh38: 1:225411411-225411411
20 LBR NM_002296.4(LBR):c.1115G>A (p.Arg372His) SNV Uncertain significance 874221 GRCh37: 1:225599112-225599112
GRCh38: 1:225411410-225411410
21 LBR NM_002296.4(LBR):c.743C>T (p.Pro248Leu) SNV Uncertain significance 875143 GRCh37: 1:225605780-225605780
GRCh38: 1:225418078-225418078
22 LBR NM_002296.4(LBR):c.838-16dup Duplication Uncertain significance 295941 rs533588538 GRCh37: 1:225603042-225603043
GRCh38: 1:225415340-225415341
23 LBR NM_002296.4(LBR):c.*1049C>G SNV Uncertain significance 295922 rs886046048 GRCh37: 1:225589956-225589956
GRCh38: 1:225402254-225402254
24 LBR NM_002296.4(LBR):c.396T>C (p.Tyr132=) SNV Uncertain significance 295946 rs374289757 GRCh37: 1:225607471-225607471
GRCh38: 1:225419769-225419769
25 LBR NM_002296.4(LBR):c.1328C>T (p.Thr443Met) SNV Uncertain significance 295933 rs531565954 GRCh37: 1:225594521-225594521
GRCh38: 1:225406819-225406819
26 LBR NM_002296.4(LBR):c.21C>T (p.Ala7=) SNV Uncertain significance 295950 rs184378202 GRCh37: 1:225611757-225611757
GRCh38: 1:225424055-225424055
27 LBR NM_002296.4(LBR):c.*1200T>C SNV Uncertain significance 295920 rs533835261 GRCh37: 1:225589805-225589805
GRCh38: 1:225402103-225402103
28 LBR NM_194442.3(LBR):c.-15+598G>A SNV Uncertain significance 295959 rs886046056 GRCh37: 1:225615810-225615810
GRCh38: 1:225428108-225428108
29 LBR NM_002296.4(LBR):c.899A>G (p.Tyr300Cys) SNV Uncertain significance 295939 rs2230422 GRCh37: 1:225600341-225600341
GRCh38: 1:225412639-225412639
30 LBR NM_002296.4(LBR):c.-41C>G SNV Uncertain significance 295953 rs1056605 GRCh37: 1:225615682-225615682
GRCh38: 1:225427980-225427980
31 LBR NM_002296.4(LBR):c.746C>A (p.Ala249Asp) SNV Uncertain significance 295943 rs200781118 GRCh37: 1:225605777-225605777
GRCh38: 1:225418075-225418075
32 LBR NM_194442.3(LBR):c.-15+605G>A SNV Uncertain significance 295957 rs879643716 GRCh37: 1:225615803-225615803
GRCh38: 1:225428101-225428101
33 LBR NM_002296.4(LBR):c.-66T>C SNV Uncertain significance 295954 rs886046054 GRCh37: 1:225615707-225615707
GRCh38: 1:225428005-225428005
34 LBR NM_002296.4(LBR):c.*1128G>A SNV Uncertain significance 295921 rs536222809 GRCh37: 1:225589877-225589877
GRCh38: 1:225402175-225402175
35 LBR NM_002296.4(LBR):c.*686A>G SNV Uncertain significance 295924 rs886046049 GRCh37: 1:225590319-225590319
GRCh38: 1:225402617-225402617
36 LBR NM_002296.4(LBR):c.206C>T (p.Ser69Phe) SNV Uncertain significance 295947 rs369299493 GRCh37: 1:225609939-225609939
GRCh38: 1:225422237-225422237
37 LBR NM_002296.4(LBR):c.1670C>T (p.Ala557Val) SNV Uncertain significance 295930 rs202123513 GRCh37: 1:225592123-225592123
GRCh38: 1:225404421-225404421
38 LBR NM_002296.4(LBR):c.1471A>G (p.Ile491Val) SNV Uncertain significance 295932 rs886046052 GRCh37: 1:225594378-225594378
GRCh38: 1:225406676-225406676
39 LBR NM_002296.4(LBR):c.-39G>C SNV Uncertain significance 295952 rs553408012 GRCh37: 1:225615680-225615680
GRCh38: 1:225427978-225427978
40 LBR NM_002296.4(LBR):c.-71G>C SNV Uncertain significance 295955 rs886046055 GRCh37: 1:225615712-225615712
GRCh38: 1:225428010-225428010
41 LBR NM_002296.4(LBR):c.1188+4T>C SNV Uncertain significance 295935 rs200998506 GRCh37: 1:225599035-225599035
GRCh38: 1:225411333-225411333
42 LBR NM_002296.4(LBR):c.951A>G (p.Val317=) SNV Uncertain significance 295938 rs199748938 GRCh37: 1:225600289-225600289
GRCh38: 1:225412587-225412587
43 LBR NM_002296.4(LBR):c.*1305C>G SNV Uncertain significance 295919 rs181244136 GRCh37: 1:225589700-225589700
GRCh38: 1:225401998-225401998
44 LBR NM_002296.4(LBR):c.724A>G (p.Asn242Asp) SNV Uncertain significance 295944 rs886046053 GRCh37: 1:225605799-225605799
GRCh38: 1:225418097-225418097
45 LBR NM_002296.4(LBR):c.97A>G (p.Thr33Ala) SNV Uncertain significance 295948 rs200756121 GRCh37: 1:225611681-225611681
GRCh38: 1:225423979-225423979
46 LBR NM_002296.4(LBR):c.1590G>A (p.Thr530=) SNV Uncertain significance 295931 rs766271949 GRCh37: 1:225592203-225592203
GRCh38: 1:225404501-225404501
47 LBR NM_002296.4(LBR):c.*1201A>G SNV Uncertain significance 874168 GRCh37: 1:225589804-225589804
GRCh38: 1:225402102-225402102
48 LBR NM_002296.4(LBR):c.1034A>G (p.Tyr345Cys) SNV Uncertain significance 874222 GRCh37: 1:225600206-225600206
GRCh38: 1:225412504-225412504
49 LBR NM_002296.4(LBR):c.931A>G (p.Thr311Ala) SNV Uncertain significance 715943 rs2275601 GRCh37: 1:225600309-225600309
GRCh38: 1:225412607-225412607
50 LBR NM_002296.4(LBR):c.254G>A (p.Arg85Gln) SNV Uncertain significance 874269 GRCh37: 1:225609891-225609891
GRCh38: 1:225422189-225422189

UniProtKB/Swiss-Prot genetic disease variations for Greenberg Dysplasia:

72
# Symbol AA change Variation ID SNP ID
1 LBR p.Asn547Asp VAR_081220 rs587777171
2 LBR p.Arg583Gln VAR_081221 rs587777172

Expression for Greenberg Dysplasia

Search GEO for disease gene expression data for Greenberg Dysplasia.

Pathways for Greenberg Dysplasia

Pathways related to Greenberg Dysplasia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
2
Show member pathways
12.38 LMNB1 LMNA LEMD3 EMD
3
Show member pathways
12.2 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
4 12.19 LMNB2 LMNB1 LMNA EMD
5 11.92 LMNB2 LMNB1 LMNA
6
Show member pathways
11.87 LMNB2 LMNB1 LMNA
7
Show member pathways
11.61 TM7SF2 MSMO1 LBR EBP DHCR7
8
Show member pathways
11.27 LMNB2 LMNB1 LMNA
9 11.01 LMNB2 LBR
10
Show member pathways
10.9 TM7SF2 MSMO1 LBR EBP DHCR7
11
Show member pathways
10.78 LMNB1 LMNA LEMD3 EMD

GO Terms for Greenberg Dysplasia

Cellular components related to Greenberg Dysplasia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 TRIP11 TM7SF2 SYNE2 SYNE1 SUN2 SUN1
2 nucleus GO:0005634 10.26 SYNE2 SYNE1 SUN2 SUN1 LMNB2 LMNB1
3 integral component of membrane GO:0016021 10.24 TM7SF2 SYNE2 SYNE1 SUN2 SUN1 MSMO1
4 endoplasmic reticulum GO:0005783 9.99 TM7SF2 MSMO1 LBR EMD EBP DHCR7
5 nuclear envelope GO:0005635 9.81 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
6 nuclear outer membrane GO:0005640 9.67 SYNE2 SYNE1 EMD DHCR7
7 nuclear matrix GO:0016363 9.63 LMNB1 LMNA AKAP8L
8 integral component of nuclear inner membrane GO:0005639 9.62 SUN2 SUN1 LEMD3 LBR
9 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.56 SYNE2 SYNE1 SUN2 SUN1
10 nuclear inner membrane GO:0005637 9.56 TM7SF2 SUN2 SUN1 LMNB2 LMNB1 LEMD3
11 lamin filament GO:0005638 9.4 LMNB1 LMNA
12 nuclear membrane GO:0031965 9.32 SYNE2 SYNE1 SUN2 SUN1 LMNB2 LMNB1

Biological processes related to Greenberg Dysplasia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.95 TM7SF2 MSMO1 LBR EBP DHCR7
2 steroid metabolic process GO:0008202 9.83 TM7SF2 MSMO1 LBR EBP DHCR7
3 cholesterol metabolic process GO:0008203 9.8 TM7SF2 MSMO1 LBR EBP DHCR7
4 nucleus organization GO:0006997 9.67 SYNE1 LMNA LEMD3
5 centrosome localization GO:0051642 9.63 SYNE2 SUN2 SUN1
6 regulation of cholesterol biosynthetic process GO:0045540 9.57 TM7SF2 DHCR7
7 nuclear migration GO:0007097 9.56 SYNE2 SUN2
8 nuclear envelope organization GO:0006998 9.56 SUN2 SUN1 LMNA LEMD3
9 steroid biosynthetic process GO:0006694 9.55 TM7SF2 MSMO1 LBR EBP DHCR7
10 mitotic nuclear envelope reassembly GO:0007084 9.54 LMNA EMD
11 nuclear matrix anchoring at nuclear membrane GO:0090292 9.54 SYNE1 SUN2 SUN1
12 cholesterol biosynthetic process via lathosterol GO:0033490 9.52 EBP DHCR7
13 cholesterol biosynthetic process via desmosterol GO:0033489 9.51 EBP DHCR7
14 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.5 SYNE2 SUN2 SUN1
15 nuclear migration along microfilament GO:0031022 9.48 SYNE2 SUN2
16 cholesterol biosynthetic process GO:0006695 9.35 TM7SF2 MSMO1 LBR EBP DHCR7
17 sterol biosynthetic process GO:0016126 9.02 TM7SF2 MSMO1 LBR EBP DHCR7

Molecular functions related to Greenberg Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.22 TRIP11 TM7SF2 SYNE2 SYNE1 SUN2 SUN1
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 TM7SF2 LBR DHCR7
3 protein membrane anchor GO:0043495 9.37 SUN2 SUN1
4 delta14-sterol reductase activity GO:0050613 9.16 TM7SF2 LBR
5 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor GO:0016628 9.13 TM7SF2 LBR DHCR7
6 lamin binding GO:0005521 9.02 SYNE1 SUN2 SUN1 LBR AKAP8L

Sources for Greenberg Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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