MCDJ
MCID: MTP034
MIFTS: 50

Metaphyseal Chondrodysplasia, Jansen Type (MCDJ)

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

Aliases & Classifications for Metaphyseal Chondrodysplasia, Jansen Type

MalaCards integrated aliases for Metaphyseal Chondrodysplasia, Jansen Type:

Name: Metaphyseal Chondrodysplasia, Jansen Type 57 58 72 29 6
Metaphyseal Chondrodysplasia, Murk Jansen Type 57 72 13
Murk Jansen Type Metaphyseal Chondrodysplasia 12 20
Jansen Type Metaphyseal Chondrodysplasia 20 70
Jansen's Metaphyseal Chondrodysplasia 12 15
Mcdj 57 72
Chondrodysplasia, Metaphyseal, Murk Jansen Type 39
Metaphyseal Chondrodysplasia Murk Jansen Type 20
Jansen Metaphyseal Chondrodysplasia 12
Jansen Metaphyseal Dysostosis 12
Jansen Disease 12

Characteristics:

Orphanet epidemiological data:

58
metaphyseal chondrodysplasia, jansen type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
waddling gait
majority of cases are sporadic

Inheritance:
autosomal dominant


HPO:

31
metaphyseal chondrodysplasia, jansen type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Metaphyseal Chondrodysplasia, Jansen Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33067 Definition Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging ), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone -independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

MalaCards based summary : Metaphyseal Chondrodysplasia, Jansen Type, also known as metaphyseal chondrodysplasia, murk jansen type, is related to metaphyseal dysplasia and hypercalcemia, infantile, 1, and has symptoms including waddling gait An important gene associated with Metaphyseal Chondrodysplasia, Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Presynaptic function of Kainate receptors. Affiliated tissues include bone, and related phenotypes are osteopenia and hearing impairment

Disease Ontology : 12 A metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism.

OMIM® : 57 The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002). (156400) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Metaphyseal chondrodysplasia, Jansen type: A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.

Related Diseases for Metaphyseal Chondrodysplasia, Jansen Type

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia 30.5 PTHLH PTH1R NKX3-2
2 hypercalcemia, infantile, 1 30.4 PTHLH PTH1R PTH CASR
3 nephrocalcinosis 30.0 SLC34A3 PHEX CASR
4 nephrolithiasis 29.9 SLC9A3R1 SLC34A3 PTH FGF23 CASR
5 hyperparathyroidism 29.5 PTHLH PTH PHEX KL FGF23 CASR
6 hypophosphatemia 29.4 SLC9A3R1 SLC34A3 PTHLH PTH1R PTH PHEX
7 rickets 29.3 SLC34A3 PTH PHEX KL FGF23 CASR
8 dwarfism 10.7
9 pediatric ovarian germ cell tumor 10.3 PTHLH PTH
10 malignant ovarian brenner tumor 10.3 PTHLH PTH
11 pediatric ovarian dysgerminoma 10.3 PTHLH PTH
12 paraneoplastic syndromes 10.3 PTHLH FGF23
13 sclerosing hepatic carcinoma 10.3 PTHLH PTH
14 invasive malignant thymoma 10.3 PTHLH PTH
15 gorham's disease 10.3 PTH GALNT3
16 opsismodysplasia 10.3 PHEX FGF23
17 hypertension and brachydactyly syndrome 10.2 PTHLH PTH1R
18 chondrosarcoma 10.2
19 vitamin d-dependent rickets 10.2 PTH PHEX
20 eiken syndrome 10.2 PTHLH PTH1R PTH
21 pseudohypoparathyroidism, type ia 10.2 PTHLH PTH1R PTH
22 acrodysostosis 10.2 PTHLH PTH1R PTH
23 pseudopseudohypoparathyroidism 10.2 PTHLH PTH
24 spondyloepimetaphyseal dysplasia 10.2
25 acrocapitofemoral dysplasia 10.2 PTH1R IHH
26 hypophosphatasia 10.2 PTH PHEX FGF23
27 metachondromatosis 10.2 PTHLH PTH1R IHH
28 multiple enchondromatosis, maffucci type 10.1 PTHLH PTH1R IHH
29 blount's disease 10.1 SLC34A3 FGF23
30 brachydactyly, type a1 10.1 PTHLH PTH1R IHH
31 failure of tooth eruption, primary 10.1 PTHLH PTH1R
32 chondromyxoid fibroma 10.1 PTHLH PTH1R FGFR3
33 skeletal dysplasias 10.1 PTHLH PTH1R FGFR3
34 fanconi renotubular syndrome 2 10.1 SLC34A3 PHEX
35 chondroblastoma 10.1 PTHLH PTH1R FGFR3
36 hepatocellular clear cell carcinoma 10.1 KL FGF23
37 bone resorption disease 10.1 PTHLH PTH1R PTH FGF23
38 hypocalciuric hypercalcemia, familial, type i 10.1 PTH CASR
39 hypocalciuric hypercalcemia, familial, type ii 10.1 PTH CASR
40 hypocalciuric hypercalcemia, familial, type iii 10.1 PTH CASR
41 oncogenic osteomalacia 10.1 PTHLH PTH PHEX FGF23
42 tracheal calcification 10.1 PTH KL FGF23
43 osteochondroma 10.0 PTHLH FGFR3
44 conjunctival deposit 10.0 KL GALNT3 FGF23
45 hyperlipoproteinemia, type v 10.0 KL FGF23
46 cleidocranial dysplasia 10.0 PTH1R NKX3-2 IHH
47 thanatophoric dysplasia, type i 10.0 PTH1R IHH FGFR3
48 enchondromatosis, multiple, ollier type 10.0 PTHLH PTH1R PTH IHH
49 pulmonary alveolar microlithiasis 10.0 SLC34A3 GALNT3 FGF23
50 hypophosphatemic rickets, x-linked recessive 10.0 SLC34A3 PHEX FGF23

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



Diseases related to Metaphyseal Chondrodysplasia, Jansen Type

Symptoms & Phenotypes for Metaphyseal Chondrodysplasia, Jansen Type

Human phenotypes related to Metaphyseal Chondrodysplasia, Jansen Type:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 hearing impairment 31 HP:0000365
3 hypertelorism 31 HP:0000316
4 bowing of the long bones 31 HP:0006487
5 hypophosphatemia 31 HP:0002148
6 brachycephaly 31 HP:0000248
7 micrognathia 31 HP:0000347
8 waddling gait 31 HP:0002515
9 clinodactyly of the 5th finger 31 HP:0004209
10 choanal atresia 31 HP:0000453
11 nephrocalcinosis 31 HP:0000121
12 hypercalciuria 31 HP:0002150
13 proptosis 31 HP:0000520
14 hypoparathyroidism 31 HP:0000829
15 hypercalcemia 31 HP:0003072
16 hip contracture 31 HP:0003273
17 misalignment of teeth 31 HP:0000692
18 knee flexion contracture 31 HP:0006380
19 severe short stature 31 HP:0003510
20 short long bone 31 HP:0003026
21 short ribs 31 HP:0000773
22 choanal stenosis 31 HP:0000452
23 metaphyseal chondrodysplasia 31 HP:0005871
24 pathologic fracture 31 HP:0002756
25 metaphyseal cupping 31 HP:0003021
26 hyperphosphaturia 31 HP:0003109
27 elevated alkaline phosphatase 31 HP:0003155
28 clubbing of fingers 31 HP:0100759
29 thick skull base 31 HP:0002737
30 prominent supraorbital arches in adult 31 HP:0004676

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
prominent eyes

Head And Neck Head:
brachycephaly

Head And Neck Nose:
choanal atresia
choanal stenosis

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Skeletal:
pathologic fracture
generalized osteopenia

Head And Neck Ears:
deafness

Growth Height:
severe short stature, postnatal onset
average adult height 125cm

Skeletal Limbs:
flexion contracture of knees
bowing of long bones, especially lower limb
markedly expanded cup-shaped metaphyses, infancy
short, mildly broad diaphyses
short tubular bones

Laboratory Abnormalities:
hypophosphatemia
hypercalciuria
hypercalcemia
hyperphosphaturia
elevated alkaline phosphatase
more
Head And Neck Face:
micrognathia
prominent supraorbital arches in adult
mild frontonasal hyperplasia in adult

Genitourinary Kidneys:
nephrocalcinosis

Skeletal Hands:
clinodactyly
short, clubbed fingers

Skeletal Skull:
thick skull base
mandibular cyst

Head And Neck Teeth:
malposition of teeth

Skeletal Pelvis:
flexion contracture of hips

Clinical features from OMIM®:

156400 (Updated 05-Apr-2021)

UMLS symptoms related to Metaphyseal Chondrodysplasia, Jansen Type:


waddling gait

MGI Mouse Phenotypes related to Metaphyseal Chondrodysplasia, Jansen Type:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 CASR COL27A1 FGF23 FGFR3 GALNT3 IHH
2 craniofacial MP:0005382 10.34 CASR COL27A1 FGFR3 GALNT3 IHH KL
3 digestive/alimentary MP:0005381 10.33 CASR FGF23 FGFR3 GALNT3 IHH KL
4 endocrine/exocrine gland MP:0005379 10.28 CASR FGF23 GALNT3 IHH KL NKX3-2
5 cardiovascular system MP:0005385 10.27 COL27A1 FGF23 GALNT3 IHH KL PHEX
6 cellular MP:0005384 10.27 CASR FGFR3 GALNT3 IHH KL NKX3-2
7 homeostasis/metabolism MP:0005376 10.27 CASR FGF23 FGFR3 GALNT3 KL PHEX
8 hematopoietic system MP:0005397 10.25 CASR FGF23 FGFR3 GALNT3 KL NKX3-2
9 limbs/digits/tail MP:0005371 10.23 COL27A1 FGF23 FGFR3 GALNT3 IHH KL
10 immune system MP:0005387 10.22 CASR FGF23 FGFR3 GALNT3 KL NKX3-2
11 mortality/aging MP:0010768 10.22 CASR COL27A1 FGF23 FGFR3 IHH KL
12 nervous system MP:0003631 10.07 CASR FGFR3 IHH KL NKX3-2 PHEX
13 renal/urinary system MP:0005367 10.02 CASR FGF23 FGFR3 GALNT3 KL PHEX
14 liver/biliary system MP:0005370 9.91 COL27A1 KL PHEX PTH1R PTHLH SIK3
15 reproductive system MP:0005389 9.86 COL27A1 FGF23 FGFR3 GALNT3 KL PTHLH
16 skeleton MP:0005390 9.83 CASR COL27A1 FGF23 FGFR3 GALNT3 IHH
17 respiratory system MP:0005388 9.76 COL27A1 FGF23 FGFR3 IHH KL NKX3-2
18 vision/eye MP:0005391 9.23 CASR FGFR3 IHH KL PTH PTH1R

Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Jansen Type

Search Clinical Trials , NIH Clinical Center for Metaphyseal Chondrodysplasia, Jansen Type

Genetic Tests for Metaphyseal Chondrodysplasia, Jansen Type

Genetic tests related to Metaphyseal Chondrodysplasia, Jansen Type:

# Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Jansen Type 29 PTH1R

Anatomical Context for Metaphyseal Chondrodysplasia, Jansen Type

MalaCards organs/tissues related to Metaphyseal Chondrodysplasia, Jansen Type:

40
Bone

Publications for Metaphyseal Chondrodysplasia, Jansen Type

Articles related to Metaphyseal Chondrodysplasia, Jansen Type:

(show all 19)
# Title Authors PMID Year
1
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. 57 6
7701349 1995
2
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. 57
30232230 2018
3
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. 6
15240651 2004
4
Some chondrodysplasias with short limbs: molecular perspectives. 57
12357475 2002
5
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. 6
10487664 1999
6
Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. 57
9178745 1997
7
Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. 6
8703170 1996
8
Molecular cloning and characterization of a parathyroid hormone/parathyroid hormone-related peptide receptor: a member of an ancient family of G protein-coupled receptors. 6
8076140 1994
9
Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. 57
8314082 1994
10
Calcium metabolism in the Jansen type of metaphyseal dysplasia. 57
8276022 1993
11
The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult. 57
6331768 1984
12
Jansen's metaphyseal dysostosis. 57
972797 1976
13
The skull in metaphyseal chondrodysplasia type Jansen. 57
1233427 1975
14
Metaphyseal dysostosis of Jansen. 57
5350670 1969
15
Metaphysial dysostosis. A late follow-up of the first reported case. 57
5770408 1969
16
Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report. 61
28241124 2017
17
Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type. 61
6974367 1981
18
[Radiological diagnosis (and differential diagnosis) of lethal type (congenital type) of hypophosphatasia (author's transl)]. 61
959514 1976
19
Asphyxiating thoracic dysplasia as a complication of metaphyseal chondrodysplasia (Jansen type). 61
4461094 1974

Variations for Metaphyseal Chondrodysplasia, Jansen Type

ClinVar genetic disease variations for Metaphyseal Chondrodysplasia, Jansen Type:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTH1R NM_000316.3(PTH1R):c.668A>G (p.His223Arg) SNV Pathogenic 13742 rs121434597 GRCh37: 3:46940181-46940181
GRCh38: 3:46898691-46898691
2 PTH1R NM_000316.3(PTH1R):c.1228A>C (p.Thr410Pro) SNV Pathogenic 13743 rs121434598 GRCh37: 3:46944032-46944032
GRCh38: 3:46902542-46902542
3 PTH1R NM_000316.3(PTH1R):c.1373T>G (p.Ile458Arg) SNV Pathogenic 13747 rs121434600 GRCh37: 3:46944258-46944258
GRCh38: 3:46902768-46902768
4 PTH1R NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg) SNV Pathogenic 13748 rs121434602 GRCh37: 3:46944033-46944033
GRCh38: 3:46902543-46902543
5 PTH1R NM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys) SNV Pathogenic 1030731 GRCh37: 3:46944258-46944258
GRCh38: 3:46902768-46902768
6 PTH1R NM_000316.3(PTH1R):c.638+11C>A SNV Uncertain significance 900571 GRCh37: 3:46939973-46939973
GRCh38: 3:46898483-46898483
7 PTH1R NM_000316.3(PTH1R):c.662A>G (p.Tyr221Cys) SNV Uncertain significance 900572 GRCh37: 3:46940175-46940175
GRCh38: 3:46898685-46898685
8 PTH1R NM_000316.3(PTH1R):c.691A>G (p.Met231Val) SNV Uncertain significance 900573 GRCh37: 3:46940204-46940204
GRCh38: 3:46898714-46898714
9 PTH1R NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp) SNV Uncertain significance 903189 GRCh37: 3:46945102-46945102
GRCh38: 3:46903612-46903612
10 PTH1R NM_000316.3(PTH1R):c.617T>C (p.Val206Ala) SNV Uncertain significance 953070 GRCh37: 3:46939941-46939941
GRCh38: 3:46898451-46898451
11 PTH1R NM_000316.3(PTH1R):c.-166G>A SNV Uncertain significance 345573 rs886058583 GRCh37: 3:46919273-46919273
GRCh38: 3:46877783-46877783
12 PTH1R NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) SNV Uncertain significance 345588 rs762939698 GRCh37: 3:46939612-46939612
GRCh38: 3:46898122-46898122
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.638+7G>A SNV Uncertain significance 345590 rs886058584 GRCh37: 3:46939969-46939969
GRCh38: 3:46898479-46898479
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.57C>G (p.Leu19=) SNV Uncertain significance 899408 GRCh37: 3:46925106-46925106
GRCh38: 3:46883616-46883616
17 PTH1R NM_000316.3(PTH1R):c.1330G>A (p.Glu444Lys) SNV Uncertain significance 899513 GRCh37: 3:46944134-46944134
GRCh38: 3:46902644-46902644
18 PTH1R NM_000316.3(PTH1R):c.827C>T (p.Ala276Val) SNV Uncertain significance 902259 GRCh37: 3:46940340-46940340
GRCh38: 3:46898850-46898850
19 PTH1R NM_000316.3(PTH1R):c.1048G>A (p.Gly350Arg) SNV Uncertain significance 902260 GRCh37: 3:46942574-46942574
GRCh38: 3:46901084-46901084
20 PTH1R NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) SNV Uncertain significance 902323 GRCh37: 3:46945059-46945059
GRCh38: 3:46903569-46903569
21 PTH1R NM_000316.3(PTH1R):c.1732C>T (p.Pro578Ser) SNV Uncertain significance 902324 GRCh37: 3:46945096-46945096
GRCh38: 3:46903606-46903606
22 PTH1R NM_000316.3(PTH1R):c.-64C>A SNV Uncertain significance 903019 GRCh37: 3:46922593-46922593
GRCh38: 3:46881103-46881103
23 PTH1R NM_000316.3(PTH1R):c.408T>C (p.Tyr136=) SNV Uncertain significance 903068 GRCh37: 3:46939439-46939439
GRCh38: 3:46897949-46897949
24 PTH1R NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) SNV Likely benign 900527 GRCh37: 3:46935458-46935458
GRCh38: 3:46893968-46893968
25 PTH1R NM_000316.3(PTH1R):c.449G>A (p.Arg150His) SNV Likely benign 899444 GRCh37: 3:46939588-46939588
GRCh38: 3:46898098-46898098
26 PTH1R NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) SNV Likely benign 64398 rs387907460 GRCh37: 3:46944108-46944108
GRCh38: 3:46902618-46902618
27 PTH1R NM_000316.3(PTH1R):c.*7G>A SNV Likely benign 345602 rs199649688 GRCh37: 3:46945153-46945153
GRCh38: 3:46903663-46903663
28 PTH1R NM_000316.3(PTH1R):c.876G>T (p.Leu292=) SNV Likely benign 345591 rs200475872 GRCh37: 3:46940834-46940834
GRCh38: 3:46899344-46899344
29 PTH1R NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) SNV Likely benign 345598 rs749111054 GRCh37: 3:46944791-46944791
GRCh38: 3:46903301-46903301
30 PTH1R NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) SNV Likely benign 281247 rs121434601 GRCh37: 3:46939587-46939587
GRCh38: 3:46898097-46898097
31 PTH1R NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) SNV Likely benign 345581 rs41290646 GRCh37: 3:46937345-46937345
GRCh38: 3:46895855-46895855
32 PTH1R NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) SNV Benign 345595 rs142921504 GRCh37: 3:46944109-46944109
GRCh38: 3:46902619-46902619
33 PTH1R NM_000316.3(PTH1R):c.436C>A (p.Arg146=) SNV Benign 345587 rs143863124 GRCh37: 3:46939575-46939575
GRCh38: 3:46898085-46898085
34 PTH1R NM_000316.3(PTH1R):c.216G>A (p.Ala72=) SNV Benign 345579 rs116789130 GRCh37: 3:46937262-46937262
GRCh38: 3:46895772-46895772
35 PTH1R NM_000316.3(PTH1R):c.313+4C>T SNV Benign 345582 rs200207404 GRCh37: 3:46937363-46937363
GRCh38: 3:46895873-46895873
36 PTH1R NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) SNV Benign 345580 rs148414587 GRCh37: 3:46937272-46937272
GRCh38: 3:46895782-46895782
37 PTH1R NM_000316.3(PTH1R):c.771C>A (p.Thr257=) SNV Benign 750608 rs201016660 GRCh37: 3:46940284-46940284
GRCh38: 3:46898794-46898794
38 PTH1R NM_000316.3(PTH1R):c.75+9C>T SNV Benign 345575 rs200710310 GRCh37: 3:46925133-46925133
GRCh38: 3:46883643-46883643
39 PTH1R NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) SNV Benign 345601 rs138646765 GRCh37: 3:46945008-46945008
GRCh38: 3:46903518-46903518
40 PTH1R NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) SNV Benign 345600 rs77048718 GRCh37: 3:46945000-46945000
GRCh38: 3:46903510-46903510
41 PTH1R NM_000316.3(PTH1R):c.1152G>T (p.Val384=) SNV Benign 345593 rs763816214 GRCh37: 3:46943291-46943291
GRCh38: 3:46901801-46901801
42 PTH1R NM_000316.3(PTH1R):c.-37G>A SNV Benign 345574 rs201663714 GRCh37: 3:46925013-46925013
GRCh38: 3:46883523-46883523
43 PTH1R NM_000316.3(PTH1R):c.128G>A (p.Arg43His) SNV Benign 345577 rs141466964 GRCh37: 3:46935449-46935449
GRCh38: 3:46893959-46893959
44 PTH1R NM_000316.3(PTH1R):c.75+12G>A SNV Benign 345576 rs200603325 GRCh37: 3:46925136-46925136
GRCh38: 3:46883646-46883646
45 PTH1R NM_000316.3(PTH1R):c.1395+15G>A SNV Benign 345597 rs151077141 GRCh37: 3:46944295-46944295
GRCh38: 3:46902805-46902805
46 PTH1R NM_000316.3(PTH1R):c.543+14T>C SNV Benign 345589 rs114449768 GRCh37: 3:46939696-46939696
GRCh38: 3:46898206-46898206
47 PTH1R NM_000316.3(PTH1R):c.1389T>C (p.Asn463=) SNV Benign 345596 rs1138518 GRCh37: 3:46944274-46944274
GRCh38: 3:46902784-46902784
48 PTH1R NM_000316.3(PTH1R):c.357G>A (p.Pro119=) SNV Benign 345585 rs143692596 GRCh37: 3:46939388-46939388
GRCh38: 3:46897898-46897898
49 PTH1R NM_000316.3(PTH1R):c.375G>A (p.Glu125=) SNV Benign 345586 rs138339848 GRCh37: 3:46939406-46939406
GRCh38: 3:46897916-46897916
50 PTH1R NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) SNV Benign 345594 rs758673796 GRCh37: 3:46944059-46944059
GRCh38: 3:46902569-46902569

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

72
# Symbol AA change Variation ID SNP ID
1 PTH1R p.His223Arg VAR_003582 rs121434597
2 PTH1R p.Thr410Pro VAR_003583 rs121434598
3 PTH1R p.Ile458Arg VAR_016064 rs121434600
4 PTH1R p.Thr410Arg VAR_038811 rs121434602

Expression for Metaphyseal Chondrodysplasia, Jansen Type

Search GEO for disease gene expression data for Metaphyseal Chondrodysplasia, Jansen Type.

Pathways for Metaphyseal Chondrodysplasia, Jansen Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 KL GALNT3 FGFR3 FGF23
2
Show member pathways
12.13 PTHLH PTH1R PTH IHH
3
Show member pathways
11.96 KL GALNT3 FGFR3 FGF23
4 11.82 PTHLH PTH1R PTH
5
Show member pathways
11.34 GALNT3 FGFR3 FGF23
6 11.25 PTHLH PTH1R PTH NKX3-2 IHH FGFR3
7 11.25 SLC9A3R1 SLC34A3 PTHLH PTH1R PTH KL
8 11.22 PTH1R PTH KL
9 11.05 PTHLH PTH1R PTH IHH
10 10.58 PTH1R PTH FGF23

GO Terms for Metaphyseal Chondrodysplasia, Jansen Type

Cellular components related to Metaphyseal Chondrodysplasia, Jansen Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 9.13 SLC9A3R1 SLC34A3 PTH1R
2 apical plasma membrane GO:0016324 9.02 SLC9A3R1 SLC34A3 PTH1R KL CASR

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.93 PTHLH PTH1R IHH FGFR3 FGF23 CASR
2 positive regulation of protein kinase B signaling GO:0051897 9.8 KL FGFR3 FGF23
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.77 PTHLH PTH1R PTH
4 cellular calcium ion homeostasis GO:0006874 9.77 PTH1R PTH CASR
5 cell-cell signaling GO:0007267 9.77 PTHLH PTH PHEX IHH FGFR3
6 ossification GO:0001503 9.76 PTH1R IHH CASR
7 calcium ion homeostasis GO:0055074 9.62 PTH KL
8 pancreas development GO:0031016 9.62 NKX3-2 IHH
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.62 KL GALNT3 FGFR3 FGF23
10 response to vitamin D GO:0033280 9.61 PTH PHEX
11 osteoblast development GO:0002076 9.61 PTHLH PTH1R
12 bone resorption GO:0045453 9.61 PTH1R PTH IHH
13 chondrocyte proliferation GO:0035988 9.58 IHH FGFR3
14 negative regulation of chondrocyte differentiation GO:0032331 9.58 PTHLH PTH NKX3-2
15 cellular response to parathyroid hormone stimulus GO:0071374 9.57 PHEX FGF23
16 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.56 PTH1R PTH
17 response to fibroblast growth factor GO:0071774 9.55 PTH CASR
18 phosphate ion homeostasis GO:0055062 9.54 PTH FGF23
19 bile acid secretion GO:0032782 9.52 SLC9A3R1 CASR
20 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.51 KL FGF23
21 response to sodium phosphate GO:1904383 9.49 PHEX FGF23
22 cAMP metabolic process GO:0046058 9.48 PTHLH PTH
23 cellular response to vitamin D GO:0071305 9.43 PHEX FGF23 CASR
24 cellular phosphate ion homeostasis GO:0030643 9.33 SLC9A3R1 SLC34A3 FGF23
25 bone mineralization GO:0030282 9.26 PTHLH PTH1R PHEX FGFR3
26 skeletal system development GO:0001501 9.17 PTHLH PTH1R PTH PHEX NKX3-2 IHH

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 9.26 KL FGF23
2 fibroblast growth factor binding GO:0017134 9.16 KL FGFR3
3 hormone activity GO:0005179 9.13 PTHLH PTH KL
4 peptide hormone receptor binding GO:0051428 8.62 PTHLH PTH

Sources for Metaphyseal Chondrodysplasia, Jansen Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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