Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCalcinosis (D002114)
Parent Node:
expandDiseases (C)
Parent Node:
expandHEM dysplasia (C535858)
Parent Node:
expandHydrops Fetalis (D015160)
..Starting node
..expandGREENBERG DYSPLASIA (OMIM:215140)

       Child Nodes:



 Sister Nodes: 
..expandDehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..expandGREENBERG DYSPLASIA (OMIM:215140)
..expandHydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)
..expandNuchal bleb, familial (C537852)
..expandXerocytosis, hereditary (C536764)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4815
Name:GREENBERG DYSPLASIA
Definition:
Alternative IDs:
ParentIDs:MESH:C535858|MESH:D002114|MESH:D015160
TreeNumbers:C05.116.099.708/C535858/215140 |C13.703.277.060.480/215140 |C15.378.295.480/215140 |C15.378.420.826.100.350/215140 |C16.300.060.480/215140 |C16.320.365.826.100.350/215140 |C18.452.174.130/215140 |C20.306.480/215140 |C23.888.277.395/215140
Synonyms:CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE |GRBGD |HEM SKELETAL DYSPLASIA |HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA |MOTH-EATEN SKELETAL DYSPLASIA
Slim Mappings:Blood disease|Fetal disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Musculoskeletal disease|Pregnancy complication|Signs and symptoms
Reference: MedGen: 215140
MeSH: 215140
OMIM: 215140;

Genes: LBR;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:000087811 pairs of ribs
3 HP:0003107Abnormal circulating cholesterol concentration
4 HP:0010675Abnormal foot bone ossification
5 HP:0001367Abnormal joint morphology
6 HP:0002101Abnormal lung lobation
7 HP:0009107Abnormal ossification involving the femoral head and neck
8 HP:0009106Abnormal pelvis bone ossification
9 HP:0000782Abnormal scapula morphology
10 HP:0008364Abnormality of the calcaneus
11 HP:0008516Abnormality of the vertebral spinous processes
12 HP:0004599Absent or minimally ossified vertebral bodies
13 HP:0001802Absent toenail
14 HP:0006619Anterior rib punctate calcifications
15 HP:0001552Barrel-shaped chest
16 HP:0005528Bone marrow hypocellularity
17 HP:0006487Bowing of the long bones
18 HP:0001169Broad palm
19 HP:0001640Cardiomegaly
20 HP:0000476Cystic hygroma
21 HP:0004331Decreased skull ossification
22 HP:0005280Depressed nasal bridge
23 HP:0005019Diaphyseal thickening
24 HP:0008873Disproportionate short-limb short stature
25 HP:0010655Epiphyseal stippling
26 HP:0001978Extramedullary hematopoiesis
27 HP:0003015Flared metaphysis
28 HP:0006559Hepatic calcification
29 HP:0002240Hepatomegaly
30 HP:0001433Hepatosplenomegaly
31 HP:0000348High forehead
32 HP:0003440Horizontal sacrum
33 HP:0000316Hypertelorism
34 HP:0000327Hypoplasia of the maxilla
35 HP:0001804Hypoplastic fingernail
36 HP:0008479Hypoplastic vertebral bodies
37 HP:0002566Intestinal malrotation
38 HP:0008754Laryngeal calcification
39 HP:0005716Lethal skeletal dysplasia
40 HP:0000890Long clavicles
41 HP:0000369Low-set ears
42 HP:0000256Macrocephaly
43 HP:0000272Malar flattening
44 HP:0003027Mesomelia
45 HP:0003021Metaphyseal cupping
46 HP:0000347Micrognathia
47 HP:0002983Micromelia
48 HP:0005855Multiple prenatal fractures
49 HP:0000774Narrow chest
50 HP:0003811Neonatal death
51 HP:0001790Nonimmune hydrops fetalis
52 HP:0001539Omphalocele
53 HP:0004510Pancreatic islet-cell hyperplasia
54 HP:0010659Patchy variation in bone mineral density
55 HP:0002202Pleural effusion
56 HP:0001561Polyhydramnios
57 HP:0001830Postaxial foot polydactyly
58 HP:0001162Postaxial hand polydactyly
59 HP:0002089Pulmonary hypoplasia
60 HP:0008420Punctate vertebral calcifications
61 HP:0008905Rhizomelia
62 HP:0001852Sandal gap
63 HP:0002694Sclerosis of skull base
64 HP:0005099Severe hydrops fetalis
65 HP:0000941Short diaphyses
66 HP:0009803Short phalanx of finger
67 HP:0000773Short ribs
68 HP:0006637Sternal punctate calcifications
69 HP:0003826Stillbirth
70 HP:0004598Supernumerary vertebral ossification centers
71 HP:0000692Tooth malposition
72 HP:0002787Tracheal calcification
73 HP:0009487Ulnar deviation of the hand
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_194442.2(LBR):c.1748G>A (p.Arg583Gln)3930LBRPathogenic587777172RCV000087264; NMedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:3892610021225591105225591105NM_194442.2:c.1748G>ANP_919424.1:p.Arg583GlnNC_000001.10:g.225591105C>TOMIM Allelic Variant:600024.0009C1300226 215140 Greenberg dysplasia
NM_194442.2(LBR):c.1639A>G (p.Asn547Asp)3930LBRPathogenic587777171RCV000087263; NMedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:3892610021225592154225592154NM_194442.2:c.1639A>GNP_919424.1:p.Asn547Asp1:g.225592154T>COMIM Allelic Variant:600024.0008C1300226 215140 Greenberg dysplasia
NM_194442.2(LBR):c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter)3930LBRPathogenic387906416RCV000087262; RCV000010137; NMedGen:C0030779,OMIM:169400,SNOMED CT:85559002; MedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:3892610021225592188225592194NM_194442.2:c.1599_1605delTCTTCTAinsCTAGAAGNP_919424.1:p.Leu534TerNC_000001.10:g.225592188_225592194delTAGAAGAinsCTTCTAGOMIM Allelic Variant:600024.0003C1300226 215140 Greenberg dysplasia; C0030779 169400 Pelger-Huët anomaly
NM_194442.2(LBR):c.32_35delTGGT (p.Val11Glufs)3930LBRPathogenic863223326RCV000087266; RCV000087265; NMedGen:C0030779,OMIM:169400,SNOMED CT:85559002; MedGen:C1300226,OMIM:215140,ORPHA:1426,SNOMED CT:3892610021225611743225611746NM_194442.2:c.32_35delTGGTNP_919424.1:p.Val11GlufsNC_000001.10:g.225611743_225611746delACCAOMIM Allelic Variant:600024.0010C1300226 215140 Greenberg dysplasia; C0030779 169400 Pelger-Huët anomaly