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, 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
Hemorrhage 68
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 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: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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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:

 64 54 (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ribs64 hallmark (90%) HP:0000772
2 lymphedema64 54 hallmark (90%) Very frequent (99-80%) HP:0001004
3 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
4 abnormality of erythrocytes64 hallmark (90%) HP:0001877
5 abnormality of pelvic girdle bone morphology64 hallmark (90%) HP:0002644
6 short stature64 hallmark (90%) HP:0004322
7 abnormality of bone mineral density64 hallmark (90%) HP:0004348
8 limb undergrowth64 hallmark (90%) HP:0009826
9 malar flattening64 typical (50%) HP:0000272
10 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
11 narrow chest64 54 typical (50%) Frequent (79-30%) HP:0000774
12 calvarial skull defect64 typical (50%) HP:0001362
13 decreased skull ossification64 54 typical (50%) Frequent (79-30%) HP:0004331
14 toxemia of pregnancy64 typical (50%) HP:0100603
15 macrocephaly64 HP:0000256
16 hypertelorism64 HP:0000316
17 hypoplasia of the maxilla64 HP:0000327
18 high forehead64 HP:0000348
19 low-set ears64 HP:0000369
20 cystic hygroma64 HP:0000476
21 misalignment of teeth64 HP:0000692
22 short ribs64 HP:0000773
23 abnormality of the scapula64 HP:0000782
24 11 pairs of ribs64 HP:0000878
25 long clavicles64 HP:0000890
26 short diaphyses64 HP:0000941
27 postaxial hand polydactyly64 HP:0001162
28 broad palm64 HP:0001169
29 abnormal joint morphology64 HP:0001367
30 hepatosplenomegaly64 HP:0001433
31 omphalocele64 HP:0001539
32 barrel-shaped chest64 HP:0001552
33 polyhydramnios64 HP:0001561
34 cardiomegaly64 HP:0001640
35 nonimmune hydrops fetalis64 HP:0001790
36 absent toenail64 HP:0001802
37 hypoplastic fingernail64 HP:0001804
38 postaxial foot polydactyly64 HP:0001830
39 sandal gap64 HP:0001852
40 extramedullary hematopoiesis64 HP:0001978
41 pulmonary hypoplasia64 HP:0002089
42 abnormal lung lobation64 HP:0002101
43 pleural effusion64 HP:0002202
44 hepatomegaly64 HP:0002240
45 intestinal malrotation64 HP:0002566
46 sclerosis of skull base64 HP:0002694
47 tracheal calcification64 HP:0002787
48 micromelia64 54 Very frequent (99-80%) HP:0002983
49 flared metaphysis64 HP:0003015
50 metaphyseal cupping64 HP:0003021
51 mesomelia64 HP:0003027
52 abnormality of cholesterol metabolism64 HP:0003107
53 horizontal sacrum64 HP:0003440
54 pancreatic islet-cell hyperplasia64 HP:0004510
55 supernumerary vertebral ossification centers64 HP:0004598
56 absent or minimally ossified vertebral bodies64 HP:0004599
57 diaphyseal thickening64 HP:0005019
58 severe hydrops fetalis64 HP:0005099
59 depressed nasal bridge64 HP:0005280
60 bone marrow hypocellularity64 HP:0005528
61 lethal skeletal dysplasia64 HP:0005716
62 multiple prenatal fractures64 HP:0005855
63 bowing of the long bones64 HP:0006487
64 hepatic calcification64 HP:0006559
65 anterior rib punctate calcifications64 54 Very frequent (99-80%) HP:0006619
66 sternal punctate calcifications64 HP:0006637
67 abnormality of the calcaneus64 HP:0008364
68 punctate vertebral calcifications64 HP:0008420
69 hypoplastic vertebral bodies64 HP:0008479
70 abnormality of the vertebral spinous processes64 HP:0008516
71 laryngeal calcification64 HP:0008754
72 disproportionate short-limb short stature64 HP:0008873
73 rhizomelia64 54 Very frequent (99-80%) HP:0008905
74 abnormal pelvis bone ossification64 54 Very frequent (99-80%) HP:0009106
75 abnormal ossification involving the femoral head and neck64 HP:0009107
76 ulnar deviation of the hand64 HP:0009487
77 short phalanx of finger64 HP:0009803
78 epiphyseal stippling64 HP:0010655
79 patchy variation in bone mineral density64 HP:0010659
80 abnormal foot bone ossification64 HP:0010675
81 platyspondyly54 Very frequent (99-80%)
82 skull defect54 Frequent (79-30%)
83 abnormality of leukocytes54 Very frequent (99-80%)
84 abnormal form of the vertebral bodies54 Very frequent (99-80%)
85 severe short-limb dwarfism54 Very frequent (99-80%)
86 midface retrusion54 Frequent (79-30%)
87 abnormal bone ossification54 Very frequent (99-80%)
88 abnormal vertebral ossification54 Very frequent (99-80%)
89 preeclampsia54 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 UMLS68/NDF-RT46:

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