BOCD
MCID: CHN054
MIFTS: 50

Chondrodysplasia, Blomstrand Type (BOCD)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia, Blomstrand Type

MalaCards integrated aliases for Chondrodysplasia, Blomstrand Type:

Name: Chondrodysplasia, Blomstrand Type 56 58 13 43 39 71
Chondrodysplasia Blomstrand Type 12 52 73 29 6 15
Bocd 56 52 58 73
Blomstrand Lethal Chondrodysplasia 12 58
Blomstrand Lethal Osteochondrodysplasia 52
Blomstrand's Lethal Chondrodysplasia 52
Blomstrand Osteochondrodysplasia 58
Blomstrand Chondrodysplasia 58
Blc 58

Characteristics:

Orphanet epidemiological data:

58
blomstrand lethal chondrodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
die at birth or shortly after birth
caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia,


HPO:

31
chondrodysplasia, blomstrand type:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060387
OMIM 56 215045
MeSH 43 C537914
NCIt 49 C131420
MESH via Orphanet 44 C537914
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 72 C1859148
Orphanet 58 ORPHA50945
MedGen 41 C1859148
UMLS 71 C1859148

Summaries for Chondrodysplasia, Blomstrand Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 50945 Definition Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. Epidemiology To date, less than 10 cases have been described in the literature. Clinical description BLC is a congenital disorder characterized by a low birth weight, facial dysmorphism (widely spaced and protruding eyes (which typically show cataract ), depressed nasal bridge, short columella, long philtrum, macroglossia, protruding tongue, severe micrognathia ), short trunk, narrow thorax and severe rhizo-meso-acromelic shortness of the limbs. Other anomalies also observed include tooth and mammary gland development defects, hypoplastic lungs, aorta coarctation (see this term), and bowel malrotation. Two forms of BCL, have been described: type I which is the severe, classical form and type II which has less severe features (such as absence of short trunk or, severely shortened arms but moderately shortened legs). Etiology BLC is caused by inactivating homozygous or compound heterozygous mutations in PTH1R (3p22-p21.1) which encodes the parathyroid hormone (PTH)/parathyroid-hormone-related peptide (PTHrP) receptor (PTH1R). These mutations result in the decrease in binding or response to PTH and PTHrP. Diagnostic methods Diagnosis is based on the clinical and radiological characteristics which show generalized increase in bone density with advanced ossification, severe shortness of the long bones with wide metaphyses and club-shaped distal ends, long narrow thorax, calcified hyoid bone and laryngeal cartilage and underdeveloped viscerocranium. Histopathological examination shows an important acceleration of the endochondral ossification in tubular bones, narrow cartilages of the epiphyses and large epiphyseal ossification centers. Diagnosis is confirmed by the genetic screening of PTH1R . Differential diagnosis Differential diagnosis includes primary failure of tooth eruption (see this term) and other lethal short limbed dwarfisms. Antenatal diagnosis Prenatal diagnosis is achieved by sonographic examination showing polyhydramnios, hydrops fetalis (see this term) and a fetus with very short limbs, nuchale dema, macroglossia, a protuberant abdomen, internal anomalies and markedly advanced endochondral bone formation. Genetic counseling Transmission is autosomal recessive . Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child. Prognosis Both forms of BLC are lethal either prenatally or shortly after birth. Visit the Orphanet disease page for more resources.

MalaCards based summary : Chondrodysplasia, Blomstrand Type, also known as chondrodysplasia blomstrand type, is related to endosteal hyperostosis, autosomal dominant and odontochondrodysplasia. An important gene associated with Chondrodysplasia, Blomstrand Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Peptide ligand-binding receptors and Presynaptic function of Kainate receptors. Affiliated tissues include bone, eye and lung, and related phenotypes are malar flattening and low-set ears

Disease Ontology : 12 An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has material basis in autosomal recessive inheritance of mutation in the PTH1R gene.

OMIM : 56 Blomstrand chondrodysplasia is an autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997). (215045)

UniProtKB/Swiss-Prot : 73 Chondrodysplasia Blomstrand type: Severe skeletal dysplasia.

Related Diseases for Chondrodysplasia, Blomstrand Type

Diseases related to Chondrodysplasia, Blomstrand Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 endosteal hyperostosis, autosomal dominant 30.3 TNFSF11 PTH GNAS
2 odontochondrodysplasia 29.4 TNFSF11 PTHLH PTH1R PTH IHH BGLAP
3 pseudo-torch syndrome 1 11.9
4 bladder cancer 11.2
5 congenital intrauterine infection-like syndrome 11.2
6 polyhydramnios 10.4
7 chief cell adenoma 10.4 PTH GCM2
8 postsurgical hypothyroidism 10.3 TSHR PTH
9 isolated growth hormone deficiency type iii 10.3 SOX3 GHRH
10 substernal goiter 10.3 PTH NLRP5 GCM2
11 hydrops fetalis, nonimmune 10.3
12 dwarfism 10.3
13 lethal chondrodysplasia 10.3
14 endemic goiter 10.3 TSHR PTH
15 pediatric ovarian germ cell tumor 10.3 PTHLH PTH
16 pediatric ovarian dysgerminoma 10.3 PTHLH PTH
17 sagliker syndrome 10.2 GNAS CASR
18 mast cell neoplasm 10.2
19 extracutaneous mastocytoma 10.2
20 hypocalciuric hypercalcemia, familial, type i 10.2 PTH CASR
21 hypocalciuric hypercalcemia, familial, type ii 10.2 PTH CASR
22 hypocalciuric hypercalcemia, familial, type iii 10.2 PTH CASR
23 oncogenic osteomalacia 10.2 PTHLH PTH
24 sclerosing hepatic carcinoma 10.2 PTHLH PTH
25 hormone producing pituitary cancer 10.2 GNAS GHRH
26 systemic lupus erythematosus 10.2
27 lung cancer susceptibility 3 10.2
28 lymphoma 10.2
29 adenocarcinoma 10.2
30 b-cell lymphoma 10.2
31 intraocular lymphoma 10.2
32 peritonitis 10.2
33 hypoparathyroidism-retardation-dysmorphism syndrome 10.2 TBCE GCM2
34 hypervitaminosis d 10.2 PTHLH PTH
35 congenital hypopituitarism 10.2 SOX3 GHRH
36 gorham's disease 10.2 TNFSF11 PTH
37 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 CASR AIRE
38 autoimmune disease of endocrine system 10.1 TSHR PTH AIRE
39 chondromyxoid fibroma 10.1 PTHLH PTH1R
40 anal spasm 10.1 PTH AIRE
41 autoimmune polyendocrine syndrome type 1 10.1 NLRP5 CASR AIRE
42 autoimmune polyendocrine syndrome 10.1 NLRP5 CASR AIRE
43 multinodular goiter 10.1 TSHR PTH GNAS
44 adrenal cortex disease 10.1 PTH GNAS AIRE
45 pituitary gland disease 10.1 SOX3 GNAS GHRH
46 adrenal gland disease 10.1 PTH GNAS AIRE
47 endocrine organ benign neoplasm 10.0 PTH GNAS GHRH
48 metal metabolism disorder 10.0 PTH GNAS CASR
49 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 PTH GCM2 GATA3
50 calciphylaxis 10.0 PTH CASR

Graphical network of the top 20 diseases related to Chondrodysplasia, Blomstrand Type:



Diseases related to Chondrodysplasia, Blomstrand Type

Symptoms & Phenotypes for Chondrodysplasia, Blomstrand Type

Human phenotypes related to Chondrodysplasia, Blomstrand Type:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
4 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
9 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
10 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
11 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
12 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
13 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
14 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
15 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
16 neonatal short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008921
17 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
18 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
19 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
20 mesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003027
21 lethal skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005716
22 short ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000773
23 flared metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003015
24 protuberant abdomen 58 31 hallmark (90%) Very frequent (99-80%) HP:0001538
25 broad clavicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000916
26 distal shortening of limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006402
27 metaphyseal cupping 58 31 hallmark (90%) Very frequent (99-80%) HP:0003021
28 aplastic clavicle 31 hallmark (90%) HP:0006660
29 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
30 synostosis of joints 58 31 frequent (33%) Frequent (79-30%) HP:0100240
31 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
32 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
33 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
34 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
35 protruding tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010808
36 natal tooth 58 31 frequent (33%) Frequent (79-30%) HP:0000695
37 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
38 generalized osteosclerosis 31 HP:0005789
39 micromelia 31 HP:0002983
40 squared iliac bones 31 HP:0003177
41 aplastic clavicles 58 Very frequent (99-80%)
42 advanced tarsal ossification 31 HP:0008108
43 advanced ossification of carpal bones 31 HP:0004233
44 laryngeal calcification 31 HP:0008754

Symptoms via clinical synopsis from OMIM:

56
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations:
hydrops fetalis

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
anterior rib widening

Respiratory Larynx:
laryngeal calcification

Skeletal:
generalized sclerosis
advanced skeletal maturation

Skeletal Pelvis:
square ilia

Skeletal Limbs:
micromelia
marked metaphyseal flaring of long bones

Prenatal Manifestations Delivery:
premature birth
die at birth or shortly after birth

Skeletal Feet:
advanced tarsal ossification

Head And Neck Face:
mandibular hypoplasia
severe midface hypoplasia

Skeletal Spine:
normal vertebrae

Skeletal Hands:
advanced carpal ossification

Clinical features from OMIM:

215045

GenomeRNAi Phenotypes related to Chondrodysplasia, Blomstrand Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.74 AIRE GCM2 GNAS HHIP PRR16 TNFSF11
2 Decreased viability after Maraba virus infection GR00252-A-2 9.74 AIRE GCM2 GNAS HHIP PRR16 TNFSF11
3 Decreased viability after Maraba virus infection GR00252-A-3 9.74 GNAS

MGI Mouse Phenotypes related to Chondrodysplasia, Blomstrand Type:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.4 AIRE CASR GATA3 GCM2 GHRH GNAS
2 growth/size/body region MP:0005378 10.36 AIRE CASR GATA3 GHRH GNAS HHIP
3 behavior/neurological MP:0005386 10.32 AIRE CASR GHRH GNAS PTH1R PTHLH
4 cellular MP:0005384 10.31 CASR GATA3 GCM2 GNAS HHIP IHH
5 craniofacial MP:0005382 10.3 GATA3 GCM2 GNAS HHIP IHH PTH
6 mortality/aging MP:0010768 10.28 AIRE CASR GATA3 GCM2 GNAS HHIP
7 homeostasis/metabolism MP:0005376 10.26 AIRE CASR GATA3 GCM2 GHRH GNAS
8 hematopoietic system MP:0005397 10.24 AIRE CASR GATA3 GNAS HHIP PTH
9 immune system MP:0005387 10.23 AIRE CASR GATA3 GHRH GNAS HHIP
10 embryo MP:0005380 10.19 CASR GATA3 GCM2 HHIP IHH NLRP5
11 digestive/alimentary MP:0005381 10.15 AIRE CASR GATA3 HHIP IHH PTH1R
12 nervous system MP:0003631 10.07 AIRE GATA3 GCM2 GHRH GNAS HHIP
13 limbs/digits/tail MP:0005371 10.03 GNAS IHH PTH PTH1R PTHLH TBX1
14 muscle MP:0005369 9.91 CASR GATA3 GNAS IHH TBCE TBX1
15 respiratory system MP:0005388 9.81 AIRE GNAS HHIP IHH PTH1R PTHLH
16 neoplasm MP:0002006 9.8 AIRE GNAS PTH1R PTHLH TNFSF11 TSHR
17 skeleton MP:0005390 9.77 CASR GATA3 GCM2 GHRH GNAS IHH
18 vision/eye MP:0005391 9.36 AIRE CASR GATA3 HHIP IHH PTH

Drugs & Therapeutics for Chondrodysplasia, Blomstrand Type

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia, Blomstrand Type

Cochrane evidence based reviews: chondrodysplasia, blomstrand type

Genetic Tests for Chondrodysplasia, Blomstrand Type

Genetic tests related to Chondrodysplasia, Blomstrand Type:

# Genetic test Affiliating Genes
1 Chondrodysplasia Blomstrand Type 29 PTH1R

Anatomical Context for Chondrodysplasia, Blomstrand Type

MalaCards organs/tissues related to Chondrodysplasia, Blomstrand Type:

40
Bone, Eye, Lung, Tongue, Pituitary, Breast, Neutrophil

Publications for Chondrodysplasia, Blomstrand Type

Articles related to Chondrodysplasia, Blomstrand Type:

(show all 16)
# Title Authors PMID Year
1
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. 61 56 6
17164305 2007
2
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. 56 6
9745456 1998
3
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. 56 6
9649554 1998
4
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. 56 6
9268097 1997
5
A case of lethal congenital dwarfism with accelerated skeletal maturation. 56 6
3975110 1985
6
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. 61 56
10664159 2000
7
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. 61 6
10523019 1999
8
Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. 56
11297619 2001
9
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. 56
9415697 1997
10
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? 56
8445622 1993
11
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases. 61
27353973 2017
12
Stimulation of Fas signaling down-regulates activity of neutrophils from major trauma patients with SIRS. 61
20832139 2011
13
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 61
19061984 2008
14
zVAD-fmk, unlike BocD-fmk, does not inhibit caspase-6 acting on 14-3-3/Bad pathway in apoptosis of p815 mastocytoma cells. 61
17202839 2006
15
Capacitation induces cyclic adenosine 3',5'-monophosphate-dependent, but apoptosis-unrelated, exposure of aminophospholipids at the apical head plasma membrane of boar sperm cells. 61
12080038 2002
16
Ectoenzyme activity and bacterial secondary production in nutrient-impoverished and nutrient-enriched freshwater mesocosms. 61
24189811 1993

Variations for Chondrodysplasia, Blomstrand Type

ClinVar genetic disease variations for Chondrodysplasia, Blomstrand Type:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTH1R NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln)SNV Pathogenic 13744 rs398122843 3:46943287-46943287 3:46901797-46901797
2 PTH1R NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)SNV Pathogenic 13745 rs121434599 3:46939426-46939426 3:46897936-46897936
3 PTH1R PTH1R, 1-BP DEL, 1122Gdeletion Pathogenic 13746
4 PTH1R NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter)SNV Pathogenic 13750 rs121434604 3:46937356-46937356 3:46895866-46895866
5 PTH1R PTH1R, IVSM4, C-T, +27SNV Pathogenic 13751

UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia, Blomstrand Type:

73
# Symbol AA change Variation ID SNP ID
1 PTH1R p.Pro132Leu VAR_016062 rs121434599

Expression for Chondrodysplasia, Blomstrand Type

Search GEO for disease gene expression data for Chondrodysplasia, Blomstrand Type.

Pathways for Chondrodysplasia, Blomstrand Type

Pathways related to Chondrodysplasia, Blomstrand Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 TSHR PTHLH PTH1R PTH IHH GNAS
2
Show member pathways
12.2 PTHLH PTH1R PTH IHH GNAS GHRH
3 11.9 TSHR PTHLH PTH1R PTH GNAS GHRH
4 11.52 PTHLH PTH1R PTH IHH
5 11.36 PTH1R PTH GNAS
6 11.32 TNFSF11 PTH1R PTH BGLAP
7 11.3 TNFSF11 PTHLH PTH1R PTH GNAS GCM2
8
Show member pathways
11.09 PTHLH IHH HHIP
9 11.09 TNFSF11 PTHLH PTH1R PTH IHH GNAS
10 10.6 TNFSF11 PTH1R PTH BGLAP

GO Terms for Chondrodysplasia, Blomstrand Type

Biological processes related to Chondrodysplasia, Blomstrand Type according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.1 TSHR PTHLH PTH1R PTH GNAS GHRH
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 TNFSF11 TBX1 PTH IHH GCM2 GATA3
3 positive regulation of cell proliferation GO:0008284 9.91 TSHR TBX1 PTHLH PTH1R IHH GHRH
4 response to drug GO:0042493 9.9 PTH GNAS GATA3 BGLAP
5 cell-cell signaling GO:0007267 9.83 TSHR PTHLH PTH IHH GHRH
6 response to ethanol GO:0045471 9.79 PTH GATA3 BGLAP
7 cellular calcium ion homeostasis GO:0006874 9.76 PTH1R PTH GCM2 CASR
8 bone development GO:0060348 9.72 TNFSF11 GNAS BGLAP
9 bone mineralization GO:0030282 9.69 PTHLH PTH1R BGLAP
10 cell maturation GO:0048469 9.67 PTH1R IHH GATA3
11 ossification GO:0001503 9.65 TNFSF11 PTH1R IHH CASR BGLAP
12 negative regulation of chondrocyte differentiation GO:0032331 9.62 PTHLH PTH
13 pharyngeal system development GO:0060037 9.61 TBX1 GATA3
14 response to vitamin D GO:0033280 9.61 PTH BGLAP
15 regulation of osteoclast differentiation GO:0045670 9.59 TNFSF11 BGLAP
16 cellular response to vitamin D GO:0071305 9.58 CASR BGLAP
17 response to fibroblast growth factor GO:0071774 9.58 PTH CASR
18 osteoblast development GO:0002076 9.58 PTHLH PTH1R BGLAP
19 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.57 PTH1R PTH
20 response to parathyroid hormone GO:0071107 9.52 PTH GNAS
21 parathyroid gland development GO:0060017 9.5 TBX1 GCM2 GATA3
22 cAMP metabolic process GO:0046058 9.48 PTHLH PTH
23 bone resorption GO:0045453 9.46 TNFSF11 PTH1R PTH IHH
24 skeletal system development GO:0001501 9.43 PTHLH PTH1R PTH IHH GNAS BGLAP
25 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.1 TSHR PTHLH PTH1R PTH GNAS GHRH

Molecular functions related to Chondrodysplasia, Blomstrand Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 TBX1 SOX3 PTH GCM2 GATA3 AIRE
2 peptide hormone receptor binding GO:0051428 8.8 PTHLH PTH GHRH

Sources for Chondrodysplasia, Blomstrand Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....