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BOCD
MCID: CHN054
MIFTS: 47

Chondrodysplasia, Blomstrand Type (BOCD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Chondrodysplasia, Blomstrand Type

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MalaCards integrated aliases for Chondrodysplasia, Blomstrand Type:

Name: Chondrodysplasia, Blomstrand Type 57 58 12 43 38 71
Chondrodysplasia Blomstrand Type 11 19 73 28 5 14
Bocd 57 19 58 73
Blomstrand Lethal Chondrodysplasia 11 58
Blomstrand Lethal Osteochondrodysplasia 19
Blomstrand's Lethal Chondrodysplasia 19
Blomstrand Osteochondrodysplasia 58
Blomstrand Chondrodysplasia 58
Blc 58

Characteristics:


Inheritance:

Chondrodysplasia, Blomstrand Type: Autosomal recessive 57
Blomstrand Lethal Chondrodysplasia: Autosomal recessive 58

Prevelance:

Blomstrand Lethal Chondrodysplasia: <1/1000000 (Worldwide) 58

Age Of Onset:

Blomstrand Lethal Chondrodysplasia: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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,


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060387
OMIM® 57 215045
MeSH 43 C537914
NCIt 49 C131420
MESH via Orphanet 44 C537914
ICD10 via Orphanet 32 Q78.8
UMLS via Orphanet 72 C1859148
Orphanet 58 ORPHA50945
MedGen 40 C1859148
UMLS 71 C1859148
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Summaries for Chondrodysplasia, Blomstrand Type

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OMIM®: 57 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) (Updated 08-Dec-2022)

MalaCards based summary: Chondrodysplasia, Blomstrand Type, also known as chondrodysplasia blomstrand type, is related to pseudo-torch syndrome 1 and porphyria, acute hepatic. An important gene associated with Chondrodysplasia, Blomstrand Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include bone, eye and tongue, and related phenotypes are cataract and depressed nasal bridge

Disease Ontology: 11 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.

GARD: 19 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.

Orphanet: 58 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.

UniProtKB/Swiss-Prot: 73 Severe skeletal dysplasia.
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Related Diseases for Chondrodysplasia, Blomstrand Type

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 pseudo-torch syndrome 1 11.2
2 porphyria, acute hepatic 11.1
3 bladder cancer 11.0
4 osteochondrodysplasia 10.5
5 polyhydramnios 10.3
6 systemic lupus erythematosus 10.1
7 lupus erythematosus 10.1
8 endosteal hyperostosis, autosomal dominant 10.1
9 hydrops fetalis, nonimmune 10.1
10 isolated growth hormone deficiency, type ia 10.1
11 lethal chondrodysplasia 10.1
12 tooth ankylosis 10.1 PTHLH PTH1R
13 autoimmune disease 10.1
14 hypercalcemia, infantile, 1 10.0 PTHLH PTH1R
15 eiken syndrome 10.0 PTHLH PTH1R
16 failure of tooth eruption, primary 10.0 PTHLH PTH1R
17 metachondromatosis 10.0 PTHLH PTH1R
18 multiple enchondromatosis, maffucci type 10.0 PTHLH PTH1R
19 chondroblastoma 10.0 PTHLH PTH1R
20 mastocytosis, cutaneous 10.0
21 mast cell neoplasm 10.0
22 phosphorus metabolism disease 10.0 SLC34A3 PTHLH
23 enchondromatosis, multiple, ollier type 9.9 PTHLH PTH1R
24 parathyroid gland disease 9.9 PTHLH PTH1R
25 burkitt lymphoma 9.9
26 systemic lupus erythematosus 1 9.9
27 lung cancer susceptibility 3 9.9
28 lymphoma 9.9
29 lyme disease 9.9
30 leukemia 9.9
31 hypolipoproteinemia 9.9
32 gastroenteritis 9.9
33 adenocarcinoma 9.9
34 b-cell lymphoma 9.9
35 intraocular lymphoma 9.9
36 systemic autoimmune disease 9.9
37 chronic bilirubin encephalopathy 9.9
38 metaphyseal dysplasia 9.9 SLC34A3 PTHLH PTH1R
39 mineral metabolism disease 9.9 SLC34A3 PTHLH PTH1R
40 hypophosphatemia 9.9 SLC34A3 PTHLH PTH1R
41 cleidocranial dysplasia 1 9.9 PTHLH PTH1R
42 pseudopseudohypoparathyroidism 9.9 PTHLH PDE4D
43 osseous heteroplasia, progressive 9.8 PTHLH PDE4D
44 pseudohypoparathyroidism 9.8 PTHLH PTH1R PDE4D
45 hypertension and brachydactyly syndrome 9.8 PTHLH PTH1R PDE4D
46 pseudohypoparathyroidism, type ia 9.8 PTHLH PTH1R PDE4D
47 acrodysostosis 9.8 PTHLH PTH1R PDE4D
48 osteomalacia 9.7 SLC34A3 PTHLH
49 isolated growth hormone deficiency, type ib 9.7 SCTR PTH2R GLP2R ADCYAP1R1
50 pseudohypoparathyroidism, type ib 9.6 SLC34A3 PTHLH PTH1R PDE4D

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



Diseases related to Chondrodysplasia, Blomstrand Type
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Symptoms & Phenotypes for Chondrodysplasia, Blomstrand Type

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Human phenotypes related to Chondrodysplasia, Blomstrand Type:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000518
2 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005280
3 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003196
4 short thorax 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010306
5 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000347
6 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000369
7 polyhydramnios 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001561
8 platyspondyly 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000926
9 proptosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000520
10 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000272
11 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000506
12 increased bone mineral density 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011001
13 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000774
14 neonatal short-limb short stature 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008921
15 premature birth 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001622
16 accelerated skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005616
17 pulmonary hypoplasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002089
18 rhizomelia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008905
19 protuberant abdomen 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001538
20 mesomelia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003027
21 short ribs 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000773
22 lethal skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005716
23 broad clavicles 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000916
24 flared metaphysis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003015
25 metaphyseal cupping 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003021
26 distal shortening of limbs 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0006402
27 aplastic clavicle 30 Hallmark (90%) HP:0006660
28 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
29 bowing of the long bones 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006487
30 synostosis of joints 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100240
31 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000463
32 hydrops fetalis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001789
33 protruding tongue 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010808
34 long philtrum 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000343
35 short metacarpal 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010049
36 natal tooth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000695
37 coarctation of aorta 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001680
38 abnormality of epiphysis morphology 58 Very frequent (99-80%)
39 micromelia 30 HP:0002983
40 generalized osteosclerosis 30 HP:0005789
41 squared iliac bones 30 HP:0003177
42 aplastic clavicles 58 Very frequent (99-80%)
43 advanced tarsal ossification 30 HP:0008108
44 laryngeal calcification 30 HP:0008754
45 advanced ossification of carpal bones 30 HP:0004233

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Prenatal Manifestations:
hydrops fetalis

Skeletal Limbs:
micromelia
marked metaphyseal flaring of long bones

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Chondrodysplasia, Blomstrand Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.35 ADCYAP1R1 CUL7 GLP2R PDE4D PTH2R
2 homeostasis/metabolism MP:0005376 9.28 ADCYAP1R1 CUL7 GLP2R PDE4D PTH1R PTH2R
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Drugs & Therapeutics for Chondrodysplasia, Blomstrand Type

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

Cochrane evidence based reviews: chondrodysplasia, blomstrand type

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Genetic Tests for Chondrodysplasia, Blomstrand Type

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Genetic tests related to Chondrodysplasia, Blomstrand Type:

# Genetic test Affiliating Genes
1 Chondrodysplasia Blomstrand Type 28 PTH1R
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Anatomical Context for Chondrodysplasia, Blomstrand Type

About this section

Organs/tissues related to Chondrodysplasia, Blomstrand Type:

MalaCards : Bone, Eye, Tongue, Breast
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Publications for Chondrodysplasia, Blomstrand Type

About this section

Articles related to Chondrodysplasia, Blomstrand Type:

(show all 30)
# 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. 62 57 5
17164305 2007
2
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. 62 57 5
9745456 1998
3
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. 62 57 5
9649554 1998
4
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. 62 57 5
9268097 1997
5
A case of lethal congenital dwarfism with accelerated skeletal maturation. 57 5
3975110 1985
6
Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. 62 57
11297619 2001
7
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. 62 57
10664159 2000
8
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. 62 5
10523019 1999
9
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. 62 57
9415697 1997
10
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? 62 57
8445622 1993
11
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis. 62
35808914 2022
12
Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism. 62
35720667 2022
13
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases. 62
27353973 2017
14
[Pathophysiology of Hypoparathyroidism]. 62
27230838 2016
15
Loss of function of parathyroid hormone receptor 1 induces Notch-dependent aortic defects during zebrafish vascular development. 62
23559631 2013
16
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption. 62
24058597 2013
17
Stimulation of Fas signaling down-regulates activity of neutrophils from major trauma patients with SIRS. 62
20832139 2011
18
[Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia]. 62
20890029 2010
19
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. 62
19061984 2008
20
Rat wild-type parathyroid hormone receptor (PTH-R) and mutant PTH-R(P132L) show the different intracellular localization in vitro. 62
18480546 2008
21
zVAD-fmk, unlike BocD-fmk, does not inhibit caspase-6 acting on 14-3-3/Bad pathway in apoptosis of p815 mastocytoma cells. 62
17202839 2006
22
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. 62
15525660 2005
23
PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development. 62
14745975 2003
24
Capacitation induces cyclic adenosine 3',5'-monophosphate-dependent, but apoptosis-unrelated, exposure of aminophospholipids at the apical head plasma membrane of boar sperm cells. 62
12080038 2002
25
Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development. 62
10912527 2000
26
Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review. 62
10552065 1999
27
Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. 62
9832466 1998
28
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. 62
9605285 1998
29
Blomstrand lethal osteochondrodysplasia. 62
8723092 1996
30
Ectoenzyme activity and bacterial secondary production in nutrient-impoverished and nutrient-enriched freshwater mesocosms. 62
24189811 1993
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Variations for Chondrodysplasia, Blomstrand Type

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ClinVar genetic disease variations for Chondrodysplasia, Blomstrand Type:

5 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTH1R NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln) SNV Pathogenic
 13744 rs398122843 GRCh37: 3:46943287-46943287
GRCh38: 3:46901797-46901797
2 PTH1R NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu) SNV Pathogenic
 13745 rs121434599 GRCh37: 3:46939426-46939426
GRCh38: 3:46897936-46897936
3 PTH1R NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter) SNV Pathogenic
 13750 rs121434604 GRCh37: 3:46937356-46937356
GRCh38: 3:46895866-46895866
4 PTH1R NM_000316.3(PTH1R):c.1049+29C>T SNV Pathogenic
 13751 GRCh37: 3:46942604-46942604
GRCh38: 3:46901114-46901114
5 PTH1R NM_000316.3(PTH1R):c.1093del (p.Val365fs) DEL Pathogenic
 13746 GRCh37: 3:46942946-46942946
GRCh38: 3:46901456-46901456
6 PTH1R NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) SNV Uncertain Significance
 345580 rs148414587 GRCh37: 3:46937272-46937272
GRCh38: 3:46895782-46895782
7 PTH1R NM_000316.3(PTH1R):c.313+4C>T SNV Uncertain Significance
 345582 rs200207404 GRCh37: 3:46937363-46937363
GRCh38: 3:46895873-46895873
8 PTH1R NM_000316.3(PTH1R):c.75+9C>T SNV Uncertain Significance
 345575 rs200710310 GRCh37: 3:46925133-46925133
GRCh38: 3:46883643-46883643
9 PTH1R NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) SNV Uncertain Significance
 345594 rs758673796 GRCh37: 3:46944059-46944059
GRCh38: 3:46902569-46902569
10 PTH1R NM_000316.3(PTH1R):c.638+7G>A SNV Uncertain Significance
 345590 rs886058584 GRCh37: 3:46939969-46939969
GRCh38: 3:46898479-46898479
11 PTH1R NM_000316.3(PTH1R):c.876G>T (p.Leu292=) SNV Uncertain Significance
 345591 rs200475872 GRCh37: 3:46940834-46940834
GRCh38: 3:46899344-46899344
12 PTH1R NM_000316.3(PTH1R):c.1152G>T (p.Val384=) SNV Uncertain Significance
 345593 rs763816214 GRCh37: 3:46943291-46943291
GRCh38: 3:46901801-46901801
13 PTH1R NM_000316.3(PTH1R):c.144C>T (p.Cys48=) SNV Uncertain Significance
 345578 rs568635759 GRCh37: 3:46935465-46935465
GRCh38: 3:46893975-46893975
14 PTH1R NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) SNV Uncertain Significance
 345601 rs138646765 GRCh37: 3:46945008-46945008
GRCh38: 3:46903518-46903518
15 PTH1R NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) SNV Uncertain Significance
 345599 rs199740724 GRCh37: 3:46944950-46944950
GRCh38: 3:46903460-46903460
16 PTH1R NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) SNV Uncertain Significance
 902323 rs771579145 GRCh37: 3:46945059-46945059
GRCh38: 3:46903569-46903569
17 PTH1R NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) SNV Uncertain Significance
 903131 rs151330461 GRCh37: 3:46943321-46943321
GRCh38: 3:46901831-46901831
18 PTH1R NM_000316.3(PTH1R):c.1212-10G>A SNV Uncertain Significance
 733286 rs202090342 GRCh37: 3:46944006-46944006
GRCh38: 3:46902516-46902516
19 PTH1R NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) SNV Uncertain Significance
 345598 rs749111054 GRCh37: 3:46944791-46944791
GRCh38: 3:46903301-46903301
20 PTH1R NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) SNV Uncertain Significance
 345588 rs762939698 GRCh37: 3:46939612-46939612
GRCh38: 3:46898122-46898122
21 PTH1R NM_000316.3(PTH1R):c.-166G>A SNV Uncertain Significance
 345573 rs886058583 GRCh37: 3:46919273-46919273
GRCh38: 3:46877783-46877783
22 PTH1R NM_000316.3(PTH1R):c.57C>G (p.Leu19=) SNV Uncertain Significance
 899408 rs780469309 GRCh37: 3:46925106-46925106
GRCh38: 3:46883616-46883616
23 PTH1R NM_000316.3(PTH1R):c.449G>A (p.Arg150His) SNV Uncertain Significance
 899444 rs73067029 GRCh37: 3:46939588-46939588
GRCh38: 3:46898098-46898098
24 PTH1R NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) SNV Uncertain Significance
 64398 rs387907460 GRCh37: 3:46944108-46944108
GRCh38: 3:46902618-46902618
25 PTH1R NM_000316.3(PTH1R):c.1330G>A (p.Glu444Lys) SNV Uncertain Significance
 899513 rs2032196022 GRCh37: 3:46944134-46944134
GRCh38: 3:46902644-46902644
26 PTH1R NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) SNV Uncertain Significance
 900527 rs199670451 GRCh37: 3:46935458-46935458
GRCh38: 3:46893968-46893968
27 PTH1R NM_000316.3(PTH1R):c.638+11C>A SNV Uncertain Significance
 900571 rs1172297627 GRCh37: 3:46939973-46939973
GRCh38: 3:46898483-46898483
28 PTH1R NM_000316.3(PTH1R):c.662A>G (p.Tyr221Cys) SNV Uncertain Significance
 900572 rs200817639 GRCh37: 3:46940175-46940175
GRCh38: 3:46898685-46898685
29 PTH1R NM_000316.3(PTH1R):c.691A>G (p.Met231Val) SNV Uncertain Significance
 900573 rs1353904110 GRCh37: 3:46940204-46940204
GRCh38: 3:46898714-46898714
30 PTH1R NM_000316.3(PTH1R):c.827C>T (p.Ala276Val) SNV Uncertain Significance
 902259 rs2031934502 GRCh37: 3:46940340-46940340
GRCh38: 3:46898850-46898850
31 PTH1R NM_000316.3(PTH1R):c.1048G>A (p.Gly350Arg) SNV Uncertain Significance
 902260 rs201363790 GRCh37: 3:46942574-46942574
GRCh38: 3:46901084-46901084
32 PTH1R NM_000316.3(PTH1R):c.1732C>T (p.Pro578Ser) SNV Uncertain Significance
 902324 rs2032267228 GRCh37: 3:46945096-46945096
GRCh38: 3:46903606-46903606
33 PTH1R NM_000316.3(PTH1R):c.-64C>A SNV Uncertain Significance
 903019 rs2030528606 GRCh37: 3:46922593-46922593
GRCh38: 3:46881103-46881103
34 PTH1R NM_000316.3(PTH1R):c.408T>C (p.Tyr136=) SNV Uncertain Significance
 903068 rs2031851380 GRCh37: 3:46939439-46939439
GRCh38: 3:46897949-46897949
35 PTH1R NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp) SNV Uncertain Significance
 903189 rs139381461 GRCh37: 3:46945102-46945102
GRCh38: 3:46903612-46903612
36 PTH1R NM_000316.3(PTH1R):c.*7G>A SNV Likely Benign
 345602 rs199649688 GRCh37: 3:46945153-46945153
GRCh38: 3:46903663-46903663
37 PTH1R NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) SNV Likely Benign
 345595 rs142921504 GRCh37: 3:46944109-46944109
GRCh38: 3:46902619-46902619
38 PTH1R NM_000316.3(PTH1R):c.771C>A (p.Thr257=) SNV Likely Benign
 750608 rs201016660 GRCh37: 3:46940284-46940284
GRCh38: 3:46898794-46898794
39 PTH1R NM_000316.3(PTH1R):c.375G>A (p.Glu125=) SNV Likely Benign
 345586 rs138339848 GRCh37: 3:46939406-46939406
GRCh38: 3:46897916-46897916
40 PTH1R NM_000316.3(PTH1R):c.128G>A (p.Arg43His) SNV Likely Benign
 345577 rs141466964 GRCh37: 3:46935449-46935449
GRCh38: 3:46893959-46893959
41 PTH1R NM_000316.3(PTH1R):c.-37G>A SNV Likely Benign
 345574 rs201663714 GRCh37: 3:46925013-46925013
GRCh38: 3:46883523-46883523
42 PTH1R NM_000316.3(PTH1R):c.357G>A (p.Pro119=) SNV Likely Benign
 345585 rs143692596 GRCh37: 3:46939388-46939388
GRCh38: 3:46897898-46897898
43 PTH1R NM_000316.3(PTH1R):c.436C>A (p.Arg146=) SNV Likely Benign
 345587 rs143863124 GRCh37: 3:46939575-46939575
GRCh38: 3:46898085-46898085
44 PTH1R NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) SNV Likely Benign
 281247 rs121434601 GRCh37: 3:46939587-46939587
GRCh38: 3:46898097-46898097
45 PTH1R NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) SNV Likely Benign
 345581 rs41290646 GRCh37: 3:46937345-46937345
GRCh38: 3:46895855-46895855
46 PTH1R NM_000316.3(PTH1R):c.1395+15G>A SNV Benign
 345597 rs151077141 GRCh37: 3:46944295-46944295
GRCh38: 3:46902805-46902805
47 PTH1R NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) SNV Benign
 345600 rs77048718 GRCh37: 3:46945000-46945000
GRCh38: 3:46903510-46903510
48 PTH1R NM_000316.3(PTH1R):c.543+14T>C SNV Benign
 345589 rs114449768 GRCh37: 3:46939696-46939696
GRCh38: 3:46898206-46898206
49 PTH1R NM_000316.3(PTH1R):c.216G>A (p.Ala72=) SNV Benign
 345579 rs116789130 GRCh37: 3:46937262-46937262
GRCh38: 3:46895772-46895772
50 PTH1R NM_000316.3(PTH1R):c.75+12G>A SNV Benign
 345576 rs200603325 GRCh37: 3:46925136-46925136
GRCh38: 3:46883646-46883646

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

Sources

Expression for Chondrodysplasia, Blomstrand Type

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

Pathways for Chondrodysplasia, Blomstrand Type

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

# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.27 ADCYAP1R1 GLP2R PDE4D PTH1R PTH2R PTHLH
2
GPCR downstream signalling 66
Show member pathways
 13.14 SCTR PTHLH PTH2R PTH1R PDE4D GLP2R
3
Class A/1 (Rhodopsin-like receptors) 66
Show member pathways
 12.97 SCTR PTHLH PTH2R PTH1R GLP2R ADCYAP1R1
4
Presynaptic function of Kainate receptors 66
Show member pathways
 12.04 SCTR PTHLH PTH2R PTH1R GLP2R ADCYAP1R1
5
G alpha (s) signalling events 66
Show member pathways
 11.37 SCTR PTHLH PTH2R PTH1R PDE4D GLP2R
6
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.02 PTHLH PTH1R
7
FGFR3 signaling in chondrocyte proliferation and terminal differentiation 74
10.84 PTHLH PTH1R
8
GPCRs, class B secretin-like 74
10.72 SCTR PTH2R PTH1R GLP2R ADCYAP1R1
Sources

GO Terms for Chondrodysplasia, Blomstrand Type

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.85 ADCYAP1R1 GLP2R PDE4D PTH1R PTH2R PTHLH
2 cAMP-mediated signaling GO:0019933 9.71 PDE4D ADCYAP1R1
3 osteoblast development GO:0002076 9.67 PTHLH PTH1R
4 cell surface receptor signaling pathway GO:0007166 9.65 SCTR PTH2R PTH1R GLP2R ADCYAP1R1
5 positive regulation of cAMP-mediated signaling GO:0043950 9.62 SCTR ADCYAP1R1
6 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.56 PTH1R ADCYAP1R1
7 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.32 SCTR PTH2R PTH1R GLP2R ADCYAP1R1

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.8 SCTR PTH2R PTH1R GLP2R ADCYAP1R1
2 G protein-coupled peptide receptor activity GO:0008528 9.65 SCTR PTH2R PTH1R GLP2R ADCYAP1R1
3 parathyroid hormone receptor activity GO:0004991 9.56 PTH2R PTH1R
4 transmembrane signaling receptor activity GO:0004888 9.55 SCTR PTH2R PTH1R GLP2R ADCYAP1R1
5 peptide hormone binding GO:0017046 9.32 SCTR PTH2R PTH1R GLP2R ADCYAP1R1
Sources

Sources for Chondrodysplasia, Blomstrand Type

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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