Metaphyseal Chondrodysplasia, Jansen Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCDJ MCID: MTP034 MIFTS: 50	Metaphyseal Chondrodysplasia, Jansen Type (MCDJ) Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Metaphyseal dysplasia

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080020

OMIM® ⁵⁷ 156400

MeSH ⁴⁴ D010009

MESH via Orphanet ⁴⁵ C537564

ICD10 via Orphanet ³³ Q78.5

UMLS via Orphanet ⁷¹ C0265295

Orphanet ⁵⁸ ORPHA33067

MedGen ⁴¹ C0265295

UMLS ⁷⁰ C0265295

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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.

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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:

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Symptoms & Phenotypes for Metaphyseal Chondrodysplasia, Jansen Type

Human phenotypes related to Metaphyseal Chondrodysplasia, Jansen Type:

³¹ (show all 30)

#	Description	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

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Drugs & Therapeutics for Metaphyseal Chondrodysplasia, Jansen Type

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

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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

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Anatomical Context for Metaphyseal Chondrodysplasia, Jansen Type

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

⁴⁰

Bone

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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	Schipani E...Juppner H	7701349	1995
2	The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. ⁵⁷	Csukasi F...Krakow D	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	Bastepe M...Gillis D	15240651	2004
4	Some chondrodysplasias with short limbs: molecular perspectives. ⁵⁷	Cohen MM	12357475	2002
5	A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. ⁶	Schipani E...Juppner H	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	Schipani E...Juppner H	9178745	1997
7	Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. ⁶	Schipani E...Juppner H	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	Juppner H	8076140	1994
9	Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. ⁵⁷	Karaplis AC...Mulligan RC	8314082	1994
10	Calcium metabolism in the Jansen type of metaphyseal dysplasia. ⁵⁷	Kruse K...Schutz C	8276022	1993
11	The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult. ⁵⁷	Charrow J...Poznanski AK	6331768	1984
12	Jansen's metaphyseal dysostosis. ⁵⁷	Gordon SL...Maisels MJ	972797	1976
13	The skull in metaphyseal chondrodysplasia type Jansen. ⁵⁷	Holthusen W...Stoeckenius M	1233427	1975
14	Metaphyseal dysostosis of Jansen. ⁵⁷	Ozonoff MB	5350670	1969
15	Metaphysial dysostosis. A late follow-up of the first reported case. ⁵⁷	de Haas WH...Griffioen F	5770408	1969
16	Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report. ⁶¹	Khan R...Blount JP	28241124	2017
17	Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type. ⁶¹	Nazara Z...Cantu JM	6974367	1981
18	[Radiological diagnosis (and differential diagnosis) of lethal type (congenital type) of hypophosphatasia (author's transl)]. ⁶¹	Nolte K...Schiebe G	959514	1976
19	Asphyxiating thoracic dysplasia as a complication of metaphyseal chondrodysplasia (Jansen type). ⁶¹	Ozonoff MB	4461094	1974

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Genes for Metaphyseal Chondrodysplasia, Jansen Type

Genes related to Metaphyseal Chondrodysplasia, Jansen Type (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	1677.73	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	7701349 8076140 8703170
2	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	7.6	DISEASES inferred ¹⁵
3	PTH	Parathyroid Hormone	Protein Coding	7.09	DISEASES inferred ¹⁵
4	FGF23	Fibroblast Growth Factor 23	Protein Coding	6.71	DISEASES inferred ¹⁵
5	GALNT3	Polypeptide N-Acetylgalactosaminyltransferase 3	Protein Coding	6.12	DISEASES inferred ¹⁵
6	PHEX	Phosphate Regulating Endopeptidase Homolog X-Linked	Protein Coding	6.05	DISEASES inferred ¹⁵
7	SIK3	SIK Family Kinase 3	Protein Coding	5.71	DISEASES inferred ¹⁵
8	SLC9A3R1	SLC9A3 Regulator 1	Protein Coding	5.66	DISEASES inferred ¹⁵
9	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	5.61	DISEASES inferred ¹⁵
10	NKX3-2	NK3 Homeobox 2	Protein Coding	5.49	DISEASES inferred ¹⁵
11	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	5.44	DISEASES inferred ¹⁵
12	KL	Klotho	Protein Coding	5.35	DISEASES inferred ¹⁵
13	CASR	Calcium Sensing Receptor	Protein Coding	5.34	DISEASES inferred ¹⁵
14	COL27A1	Collagen Type XXVII Alpha 1 Chain	Protein Coding	5.34	DISEASES inferred ¹⁵
15	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	5.33	DISEASES inferred ¹⁵

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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

Sources

Expression for Metaphyseal Chondrodysplasia, Jansen Type

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

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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	Negative regulation of FGFR3 signaling ⁶⁵ Show member pathways FGFR1 ligand binding and activation ⁶⁵ FGFR1c ligand binding and activation ⁶⁵ FGFRL1 modulation of FGFR1 signaling ⁶⁵ Negative regulation of FGFR1 signaling ⁶⁵ Negative regulation of FGFR2 signaling ⁶⁵ Negative regulation of FGFR4 signaling ⁶⁵ Signaling by activated point mutants of FGFR1 ⁶⁵ Signaling by FGFR1 ⁶⁵ Signaling by FGFR3 ⁶⁵ Signaling by FGFR4 ⁶⁵ Spry regulation of FGF signaling ⁶⁵	12.27	KL GALNT3 FGFR3 FGF23
2	Presynaptic function of Kainate receptors ⁶⁵ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁵ Activation of Kainate Receptors upon glutamate binding ⁶⁵ Activation of Na-permeable Kainate Receptors ⁶⁵ Calcitonin-like ligand receptors ⁶⁵ Class B/2 (Secretin family receptors) ⁶⁵ G beta-gamma signalling through PLC beta ⁶⁵ Glucagon-type ligand receptors ⁶⁵ G-Protein Signaling through Tubby Protein ⁶³ Ionotropic activity of Kainate Receptors ⁶⁵	12.13	PTHLH PTH1R PTH IHH
3	Signaling by FGFR2 ⁶⁵ Show member pathways FGFR2 ligand binding and activation ⁶⁵ FGFR2b ligand binding and activation ⁶⁵ Signaling by FGFR ⁶⁵	11.96	KL GALNT3 FGFR3 FGF23
4	G alpha (s) signalling events ⁶⁵	11.82	PTHLH PTH1R PTH
5	Signaling by activated point mutants of FGFR3 ⁶⁵ Show member pathways FGFR3 ligand binding and activation ⁶⁵ FGFR3 mutant receptor activation ⁶⁵ FGFR3b ligand binding and activation ⁶⁵ FGFR3c ligand binding and activation ⁶⁵ t(4;14) translocations of FGFR3 ⁶⁵	11.34	GALNT3 FGFR3 FGF23
6	Endochondral Ossification ¹	11.25	PTHLH PTH1R PTH NKX3-2 IHH FGFR3
7	Parathyroid hormone synthesis, secretion and action ³⁶	11.25	SLC9A3R1 SLC34A3 PTHLH PTH1R PTH KL
8	Endocrine and other factor-regulated calcium reabsorption ³⁶	11.22	PTH1R PTH KL
9	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	11.05	PTHLH PTH1R PTH IHH
10	Osteoblast Signaling ¹	10.58	PTH1R PTH FGF23

Sources

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

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⁷⁰ UMLS

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⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Metaphyseal Chondrodysplasia, Jansen Type (MCDJ)

Aliases & Classifications for Metaphyseal Chondrodysplasia, Jansen Type

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Summaries for Metaphyseal Chondrodysplasia, Jansen Type

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Expression for Metaphyseal Chondrodysplasia, Jansen Type

Pathways for Metaphyseal Chondrodysplasia, Jansen Type

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

GO Terms for Metaphyseal Chondrodysplasia, Jansen Type

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

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

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

Sources for Metaphyseal Chondrodysplasia, Jansen Type