MCID: GRN039
MIFTS: 40

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:
50OMIM, 46NIH Rare Diseases, 24Genetics Home Reference, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 12diseasecard, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Greenberg Skeletal Dysplasia:

Name: Greenberg Skeletal Dysplasia 50 46 24
Greenberg Dysplasia 50 46 23 24 52 68 25
Hem Dysplasia 46 24 52 66
Hem Skeletal Dysplasia 24 68 12
Chondrodystrophy, Hydropic and Prenatally Lethal Type 24 68
Hydrops-Ectopic Calcification-Motheaten Syndrome 46 52
Skeletal Dysplasia, Greenberg Type 46 52
Moth-Eaten Skeletal Dysplasia 24 68
Autosomal Recessive Lethal Chondrodystrophy with Congenital Hydrops 46
 
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia 24
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 46
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia 68
Chondrodystrophy, Hydropic, Prenatal Lethal Type 23
Hem/greenberg Dysplasia 46
Hemorrhage 66
Grbgd 68
Hem 46

Characteristics:

Orphanet epidemiological data:

52
greenberg dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal

HPO:

62
greenberg skeletal dysplasia:
Inheritance: autosomal recessive inheritance
Mortality/Aging: neonatal death, stillbirth


Classifications:



External Ids:

OMIM50 215140
Orphanet52 ORPHA1426
ICD10 via Orphanet29 Q77.3
MESH via Orphanet38 C537299
UMLS via Orphanet67 C1300226
MeSH37 D010009

Summaries for Greenberg Skeletal Dysplasia

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OMIM:50 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 hemophilia b and hemophilia a, 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 desmopressin have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and pancreatic islet.

Genetics Home Reference:24 Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.

NIH Rare Diseases:46 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:68 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:69 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 for Greenberg Skeletal Dysplasia

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Symptoms by clinical synopsis from OMIM:

215140

Clinical features from OMIM:

215140

Symptoms:

 52 (show all 18)
  • micrognathia
  • narrow chest
  • platyspondyly
  • lymphedema
  • brachydactyly syndrome
  • skull defect
  • abnormality of leukocytes
  • micromelia
  • abnormal form of the vertebral bodies
  • decreased skull ossification
  • anterior rib punctate calcifications
  • severe short-limb dwarfism
  • rhizomelia
  • abnormal pelvis bone ossification
  • midface retrusion
  • abnormal bone ossification
  • abnormal vertebral ossification
  • preeclampsia

HPO human phenotypes related to Greenberg Skeletal Dysplasia:

(show all 84)
id Description Frequency HPO Source Accession
1 abnormality of the ribs hallmark (90%) HP:0000772
2 lymphedema hallmark (90%) HP:0001004
3 brachydactyly syndrome hallmark (90%) HP:0001156
4 abnormality of erythrocytes hallmark (90%) HP:0001877
5 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
6 short stature hallmark (90%) HP:0004322
7 abnormality of bone mineral density hallmark (90%) HP:0004348
8 limb undergrowth hallmark (90%) HP:0009826
9 malar flattening typical (50%) HP:0000272
10 micrognathia typical (50%) HP:0000347
11 narrow chest typical (50%) HP:0000774
12 calvarial skull defect typical (50%) HP:0001362
13 decreased skull ossification typical (50%) HP:0004331
14 toxemia of pregnancy typical (50%) HP:0100603
15 macrocephaly HP:0000256
16 malar flattening HP:0000272
17 hypertelorism HP:0000316
18 hypoplasia of the maxilla HP:0000327
19 micrognathia HP:0000347
20 high forehead HP:0000348
21 low-set ears HP:0000369
22 cystic hygroma HP:0000476
23 misalignment of teeth HP:0000692
24 short ribs HP:0000773
25 narrow chest HP:0000774
26 abnormality of the scapula HP:0000782
27 11 pairs of ribs HP:0000878
28 long clavicles HP:0000890
29 short diaphyses HP:0000941
30 postaxial hand polydactyly HP:0001162
31 broad palm HP:0001169
32 abnormal joint morphology HP:0001367
33 hepatosplenomegaly HP:0001433
34 omphalocele HP:0001539
35 barrel-shaped chest HP:0001552
36 polyhydramnios HP:0001561
37 cardiomegaly HP:0001640
38 nonimmune hydrops fetalis HP:0001790
39 absent toenail HP:0001802
40 hypoplastic fingernail HP:0001804
41 postaxial foot polydactyly HP:0001830
42 sandal gap HP:0001852
43 extramedullary hematopoiesis HP:0001978
44 pulmonary hypoplasia HP:0002089
45 abnormal lung lobation HP:0002101
46 pleural effusion HP:0002202
47 hepatomegaly HP:0002240
48 intestinal malrotation HP:0002566
49 sclerosis of skull base HP:0002694
50 tracheal calcification HP:0002787
51 micromelia HP:0002983
52 flared metaphysis HP:0003015
53 metaphyseal cupping HP:0003021
54 mesomelia HP:0003027
55 abnormality of cholesterol metabolism HP:0003107
56 horizontal sacrum HP:0003440
57 decreased skull ossification HP:0004331
58 pancreatic islet-cell hyperplasia HP:0004510
59 supernumerary vertebral ossification centers HP:0004598
60 absent or minimally ossified vertebral bodies HP:0004599
61 diaphyseal thickening HP:0005019
62 severe hydrops fetalis HP:0005099
63 depressed nasal bridge HP:0005280
64 bone marrow hypocellularity HP:0005528
65 lethal skeletal dysplasia HP:0005716
66 multiple prenatal fractures HP:0005855
67 bowing of the long bones HP:0006487
68 hepatic calcification HP:0006559
69 anterior rib punctate calcifications HP:0006619
70 sternal punctate calcifications HP:0006637
71 abnormality of the calcaneus HP:0008364
72 punctate vertebral calcifications HP:0008420
73 hypoplastic vertebral bodies HP:0008479
74 abnormality of the vertebral spinous processes HP:0008516
75 laryngeal calcification HP:0008754
76 disproportionate short-limb short stature HP:0008873
77 rhizomelia HP:0008905
78 abnormal pelvis bone ossification HP:0009106
79 abnormal ossification involving the femoral head and neck HP:0009107
80 ulnar deviation of the hand HP:0009487
81 short phalanx of finger HP:0009803
82 epiphyseal stippling HP:0010655
83 patchy variation in bone mineral density HP:0010659
84 abnormal foot bone ossification HP:0010675

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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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 UMLS66/NDF-RT44:

Genetic Tests for Greenberg Skeletal Dysplasia

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Genetic tests related to Greenberg Skeletal Dysplasia:

id Genetic test Affiliating Genes
1 Greenberg Dysplasia25 23 LBR

Anatomical Context for Greenberg Skeletal Dysplasia

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MalaCards organs/tissues related to Greenberg Skeletal Dysplasia:

34
Bone, Skin, Pancreatic islet, Lung, Bone marrow

Animal Models for Greenberg Skeletal Dysplasia or affiliated genes

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Publications for Greenberg Skeletal Dysplasia

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Articles related to Greenberg Skeletal Dysplasia:

idTitleAuthorsYear
1
Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo. (23565302)
2013
2
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. (18382993)
2008
3
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)single nucleotide variantPathogenicrs587777171GRCh37Chr 1, 225592154: 225592154
2LBRNM_194442.2(LBR): c.1748G> A (p.Arg583Gln)single nucleotide variantPathogenicrs587777172GRCh37Chr 1, 225591105: 225591105
3LBRNM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs)deletionPathogenicrs863223326GRCh37Chr 1, 225611743: 225611746
4LBRLBR, 1-BP DEL, 1492TdeletionPathogenic
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet