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PKND
MCID: PYC001
MIFTS: 55

Pycnodysostosis (PKND)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Pycnodysostosis

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MalaCards integrated aliases for Pycnodysostosis:

Name: Pycnodysostosis 57 12 73 25 20 58 72 36 13 54 44 15 39 70
Pyknodysostosis 57 25 20 58 29 6
Pknd 57 20 72
Pycd 57 20
Toulouse-Lautrec Syndrome 25
Pyknodysostosis; Pknd 57

Characteristics:

Orphanet epidemiological data:

58
pycnodysostosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
pycnodysostosis:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Sources

Summaries for Pycnodysostosis

About this section
GARD : 20 Pycnodysostosis impacts bone growth and is present from birth. Symptoms include a large head and high forehead, undeveloped facial bones, and short fingers and toes. People with pycnodysostosis may have short stature, dental abnormalities, brittle bones, and delayed closure of the skull bones. Bones may become more brittle with age. Other complications like trouble breathing during sleep ( sleep apnea ) and bone infections may occur. Pycnodysostosis is caused by a CTSK gene that is not working correctly and inherited in an autosomal recessive pattern. The diagnosis of pycnodysostosis is based on clinical examination and X-ray findings, and is confirmed by genetic testing. Treatment is based on managing the symptoms.

MalaCards based summary : Pycnodysostosis, also known as pyknodysostosis, is related to osteomyelitis and bone resorption disease, and has symptoms including grooving of nail An important gene associated with Pycnodysostosis is CTSK (Cathepsin K), and among its related pathways/superpathways are Lysosome and Toll-like receptor signaling pathway. Affiliated tissues include bone, thyroid and pituitary, and related phenotypes are frontal bossing and skeletal dysplasia

Disease Ontology : 12 An osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.

KEGG : 36 Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis is characterized by short stature, osteosclerosis, acroosteolysis, separated cranial sutures with open fontanelles, bone fragility, and loss of mandibular angle.

UniProtKB/Swiss-Prot : 72 Pycnodysostosis: A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone.

Wikipedia : 73 Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition... more...

More information from OMIM: 265800
GeneReviews: NBK563694
Sources

Related Diseases for Pycnodysostosis

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Diseases related to Pycnodysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 30.0 TNFSF11 CTSK ACP5
2 bone resorption disease 29.8 TNFSF11 SOST CTSK ACP5
3 osteochondrodysplasia 29.5 TNFSF11 SPARC SOST CTSK CLCN7 ACP5
4 periodontitis 29.3 TNFSF11 CTSK ACP5
5 multicentric carpotarsal osteolysis syndrome 29.2 TNFSF11 CTSK ACP5
6 mammary paget's disease 29.2 TNFSF11 CTSK ACP5
7 paget's disease of bone 28.8 TNFSF11 SPARC SOST ACP5
8 bone disease 28.7 TNFSF11 SPARC SOST OSTM1 CTSK CLCN7
9 microphthalmia 28.6 TNFSF11 TFEB TFE3 MITF CTSK ACP5
10 osteoporosis 28.5 TNFSF11 TCIRG1 SPARC SOST CTSK CLCN7
11 osteopetrosis 28.1 TNFSF11 TFEB TFE3 TCIRG1 PLEKHM1 OSTM1
12 endosteal hyperostosis, autosomal dominant 28.1 TNFSF11 TCIRG1 SOST OSTM1 CTSK CLCN7
13 cleidocranial dysplasia 11.1
14 acroosteolysis 10.5
15 perivascular epithelioid cell tumor 10.3 TFE3 MITF
16 autosomal recessive disease 10.3
17 dwarfism 10.3
18 eosinophilic variant of chromophobe renal cell carcinoma 10.2 TFEB TFE3
19 clear cell papillary renal cell carcinoma 10.2 TFE3 MITF
20 renal cell carcinoma, xp11-associated 10.2 TFEB TFE3
21 sleep apnea 10.2
22 craniosynostosis 10.2
23 autosomal dominant non-syndromic intellectual disability 19 10.2 TFE3 MITF
24 albinism, ocular, with late-onset sensorineural deafness 10.2 TFE3 MITF
25 uterus perivascular epithelioid cell tumor 10.2 TFE3 MITF CTSK
26 childhood kidney cell carcinoma 10.2 TFEB TFE3 MITF
27 osteopetrosis, autosomal recessive 1 10.2 TCIRG1 CLCN7
28 waardenburg syndrome, type 2a 10.2 TFEB TFE3 MITF
29 waardenburg syndrome, type 4b 10.1 TFEB MITF
30 waardenburg's syndrome 10.1 TFEB TFE3 MITF
31 waardenburg syndrome, type 2e 10.1 TFEB MITF
32 dysostosis 10.1
33 perivascular tumor 10.1 TFEB TFE3 MITF CTSK
34 mycobacterium tuberculosis 1 10.1
35 chlamydia 10.1
36 kummell's disease 10.0 TNFSF11 SOST
37 renal cell carcinoma, papillary, 1 10.0 TFEB TFE3 MITF
38 benign giant cell tumor 10.0 TNFSF11 MITF CTSK
39 scoliosis 10.0
40 dental caries 10.0
41 spondylolysis 10.0
42 exophthalmos 10.0
43 hyperostosis 10.0
44 axial osteomalacia 10.0 TCIRG1 OSTM1 CLCN7
45 fibrogenesis imperfecta ossium 10.0 TCIRG1 OSTM1 CLCN7
46 osteopetrosis, autosomal recessive 4 10.0 TNFSF11 TCIRG1 CLCN7
47 autosomal recessive malignant osteopetrosis 10.0 TNFSF11 TCIRG1 CLCN7
48 osteopetrosis, autosomal recessive 7 10.0 TNFSF11 TCIRG1 CLCN7
49 osteopetrosis, autosomal recessive 3 9.9 TCIRG1 OSTM1 CLCN7
50 sclerosteosis 9.9 TNFSF11 SOST CTSK

Graphical network of the top 20 diseases related to Pycnodysostosis:



Diseases related to Pycnodysostosis
Sources

Symptoms & Phenotypes for Pycnodysostosis

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Human phenotypes related to Pycnodysostosis:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000189
4 abnormal vertebral morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003468
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
8 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
9 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
10 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
11 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
12 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
13 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
14 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
15 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
16 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
17 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
18 persistent open anterior fontanelle 58 31 hallmark (90%) Very frequent (99-80%) HP:0004474
19 abnormal pelvis bone ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0009106
20 abnormal clavicle morphology 31 hallmark (90%) HP:0000889
21 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
22 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
23 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
24 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
25 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
26 ridged nail 58 31 frequent (33%) Frequent (79-30%) HP:0001807
27 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
28 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
29 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
30 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
31 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
32 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
33 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
34 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
35 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
36 abnormality of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000951
37 abnormal pattern of respiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002793
38 abnormality of pelvic girdle bone morphology 58 31 Occasional (29-5%) HP:0002644
39 scoliosis 31 HP:0002650
40 abnormality of the dentition 58 Frequent (79-30%)
41 carious teeth 31 HP:0000670
42 abnormality of the nail 58 Occasional (29-5%)
43 prominent occiput 31 HP:0000269
44 micrognathia 31 HP:0000347
45 abnormality of the skeletal system 58 Very frequent (99-80%)
46 abnormality of the face 58 Very frequent (99-80%)
47 spondylolisthesis 31 HP:0003302
48 hypodontia 31 HP:0000668
49 increased bone mineral density 31 HP:0011001
50 abnormality of the vertebral column 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
micrognathia

Head And Neck Mouth:
narrow palate

Skeletal Hands:
brachydactyly
acro-osteolysis of distal phalanges

Head And Neck Nose:
prominent nose

Skeletal Skull:
absent frontal sinus
wormian bone
dense skull
delayed suture closure
obtuse angle to mandible

Chest Ribs Sternum Clavicles And Scapulae:
aplasia of clavicle
hypoplasia of clavicle

Skin Nails Hair Skin:
wrinkled skin over dorsa of fingers

Skeletal Spine:
scoliosis
spondylolisthesis
spondylolysis

Growth Height:
short stature
adult height less than 150 cm

Head And Neck Teeth:
hypodontia
delayed eruption of permanent teeth
delayed eruption of deciduous teeth
caries
persistence of deciduous teeth

Head And Neck Head:
persistent open anterior fontanelle
frontal and occipital prominence

Skeletal:
osteosclerosis
susceptibility to fracture

Skeletal Pelvis:
narrow ilia

Skin Nails Hair Nails:
grooved nails
flattened nails

Clinical features from OMIM®:

265800 (Updated 20-May-2021)

UMLS symptoms related to Pycnodysostosis:


grooving of nail

MGI Mouse Phenotypes related to Pycnodysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 CLCN7 CTSK IL6R MITF OSTM1 SOST
2 hematopoietic system MP:0005397 10.13 CLCN7 CTSK IL6R MITF OSTM1 PLEKHM1
3 immune system MP:0005387 10.1 CLCN7 CTSK IL6R MITF OSTM1 PLEKHM1
4 craniofacial MP:0005382 10.08 CLCN7 CTSK MITF OSTM1 SPARC TCIRG1
5 limbs/digits/tail MP:0005371 9.97 CLCN7 CTSK MITF OSTM1 PLEKHM1 SOST
6 integument MP:0010771 9.91 CLCN7 MITF OSTM1 SPARC TFE3 TFEB
7 normal MP:0002873 9.91 CLCN7 IL6R MITF PLEKHM1 SOST TCIRG1
8 skeleton MP:0005390 9.7 CLCN7 CTSK MITF OSTM1 PLEKHM1 SOST
9 pigmentation MP:0001186 9.63 CLCN7 MITF OSTM1 SPARC TFE3 TFEB
10 vision/eye MP:0005391 9.23 CLCN7 MITF OSTM1 PLEKHM1 SPARC TFE3
Sources

Drugs & Therapeutics for Pycnodysostosis

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Search Clinical Trials , NIH Clinical Center for Pycnodysostosis

Cochrane evidence based reviews: pycnodysostosis

Sources

Genetic Tests for Pycnodysostosis

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Genetic tests related to Pycnodysostosis:

# Genetic test Affiliating Genes
1 Pyknodysostosis 29 CTSK
Sources

Anatomical Context for Pycnodysostosis

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MalaCards organs/tissues related to Pycnodysostosis:

40
Bone, Thyroid, Pituitary, Kidney, Uterus
Sources

Publications for Pycnodysostosis

About this section

Articles related to Pycnodysostosis:

(show top 50) (show all 393)
# Title Authors PMID Year
1
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. 54 61 57 6
9529353 1998
2
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. 61 6 57 54
8703060 1996
3
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. 61 6 57
10074491 1999
4
The gene for pycnodysostosis maps to human chromosome 1cen-q21. 61 57 6
7663522 1995
5
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. 6 61 25
24767306 2014
6
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. 61 6 25
21569238 2011
7
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. 6 54 61
19674475 2009
8
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. 61 54 6
17397052 2007
9
Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. 6 61 54
15070910 2004
10
Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts. 61 54 6
12874701 2003
11
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. 6 61 54
10571690 1999
12
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. 61 54 6
8938428 1996
13
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. 61 57 54
7663521 1995
14
Pycnodysostosis: mutation spectrum in five unrelated Indian children. 6 61
27092432 2016
15
Challenges in the orthodontic treatment of a patient with pycnodysostosis. 61 6
23786531 2014
16
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. 6 61
24269275 2014
17
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis. 61 6
22822386 2012
18
Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K). 61 6
21099701 2011
19
Use of CBCT in the orthodontic diagnosis of a patient with pycnodysostosis. 6 61
21217630 2010
20
Near normalization of adult height and body proportions by growth hormone in pycnodysostosis. 61 25 54
20357177 2010
21
High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. 6 61
17206399 2007
22
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. 61 6
10878663 2000
23
Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. 6 61
10634420 2000
24
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. 6 61
10491211 1999
25
Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment. 57 61
8976667 1996
26
Pycnodysostosis. Orthopedic aspects with a description of 14 new cases. 57 61
1611757 1992
27
Porencephalic cyst in pycnodysostosis. 57 61
2614800 1989
28
Pycnodysostosis. 61 57
3172150 1988
29
Pycnodysostosis. A case report. 57 61
102649 1978
30
Pycnodysostosis. A clinical, pathological, and ultramicroscopic study of a case. 61 57
721866 1978
31
Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report. 57 61
1277671 1976
32
Pycnodysostosis. A variant form with visceral manifestations. 61 57
5086514 1972
33
Pycnodysostosis. Clinical and genetic considerations. 61 57
5657357 1968
34
Pycnodysostosis. 57 61
5935756 1966
35
Pycnodysostosis, with a familial chromosome anomaly. 57 61
5902268 1966
36
[Pyknodysostosis]. 61 57
14470123 1962
37
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review. 25 61
31237352 2019
38
Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients. 25 61
31048950 2019
39
Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect. 25 61
29796728 2018
40
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis. 61 25
26892377 2016
41
Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. 61 25
26649209 2015
42
Current research on pycnodysostosis. 61 25
25364650 2014
43
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review. 61 25
24715708 2014
44
Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings. 61 25
25550899 2014
45
A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with Pyknodysostosis. 61 25
23506830 2013
46
Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features. 61 25
21968522 2012
47
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. 61 25
20814951 2010
48
Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. 61 25
11474477 2001
49
Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation. 6
11181082 2001
50
Toulouse-Lautrec's diagnosis. 57
7493012 1995
Sources

Variations for Pycnodysostosis

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ClinVar genetic disease variations for Pycnodysostosis:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTSK NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) SNV Pathogenic 8424 rs74315305 GRCh37: 1:150778585-150778585
GRCh38: 1:150806109-150806109
2 CTSK NM_000396.4(CTSK):c.154A>T (p.Lys52Ter) SNV Pathogenic 8425 rs74315306 GRCh37: 1:150778667-150778667
GRCh38: 1:150806191-150806191
3 CTSK NM_000396.4(CTSK):c.990A>G (p.Ter330Trp) SNV Pathogenic 8420 rs74315301 GRCh37: 1:150769275-150769275
GRCh38: 1:150796799-150796799
4 CTSK NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) SNV Pathogenic 8421 rs74315302 GRCh37: 1:150776679-150776679
GRCh38: 1:150804203-150804203
5 CTSK NM_000396.4(CTSK):c.891-1G>T SNV Pathogenic 623333 rs1557823855 GRCh37: 1:150769375-150769375
GRCh38: 1:150796899-150796899
6 CTSK NM_000396.4(CTSK):c.5G>A (p.Trp2Ter) SNV Pathogenic 982107 GRCh37: 1:150779277-150779277
GRCh38: 1:150806801-150806801
7 CTSK NM_000396.4(CTSK):c.458del (p.Lys153fs) Deletion Pathogenic 981506 GRCh37: 1:150776657-150776657
GRCh38: 1:150804181-150804181
8 CTSK NM_000396.4(CTSK):c.907G>A (p.Gly303Arg) SNV Pathogenic 981508 GRCh37: 1:150769358-150769358
GRCh38: 1:150796882-150796882
9 CTSK NM_000396.4(CTSK):c.158dup (p.Asn53fs) Duplication Pathogenic 954275 GRCh37: 1:150778662-150778663
GRCh38: 1:150806186-150806187
10 CTSK NM_000396.4(CTSK):c.402del (p.Gln135fs) Deletion Pathogenic 981511 GRCh37: 1:150776713-150776713
GRCh38: 1:150804237-150804237
11 CTSK NM_000396.4(CTSK):c.431_432del (p.Ser144fs) Microsatellite Pathogenic 981509 GRCh37: 1:150776683-150776684
GRCh38: 1:150804207-150804208
12 CTSK NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) SNV Pathogenic/Likely pathogenic 8422 rs74315303 GRCh37: 1:150772083-150772083
GRCh38: 1:150799607-150799607
13 CTSK NM_000396.4(CTSK):c.547A>C (p.Thr183Pro) SNV Likely pathogenic 977220 GRCh37: 1:150776568-150776568
GRCh38: 1:150804092-150804092
14 CTSK NM_000396.4(CTSK):c.827A>G (p.His276Arg) SNV Likely pathogenic 983497 GRCh37: 1:150771707-150771707
GRCh38: 1:150799231-150799231
15 CTSK NM_000396.4(CTSK):c.556T>C (p.Phe186Leu) SNV Likely pathogenic 981507 GRCh37: 1:150776559-150776559
GRCh38: 1:150804083-150804083
16 CTSK NM_000396.4(CTSK):c.244-29A>G SNV Likely pathogenic 982106 GRCh37: 1:150778521-150778521
GRCh38: 1:150806045-150806045
17 CTSK NM_000396.4(CTSK):c.826C>T (p.His276Tyr) SNV Likely pathogenic 801542 rs1571123333 GRCh37: 1:150771708-150771708
GRCh38: 1:150799232-150799232
18 CTSK NM_000396.4(CTSK):c.830C>T (p.Ala277Val) SNV Likely pathogenic 8423 rs74315304 GRCh37: 1:150771704-150771704
GRCh38: 1:150799228-150799228
19 CTSK NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) SNV Likely pathogenic 553560 rs371277428 GRCh37: 1:150778685-150778685
GRCh38: 1:150806209-150806209
20 CTSK NM_000396.4(CTSK):c.891-21_892dup Duplication Likely pathogenic 554307 rs1553196764 GRCh37: 1:150769372-150769373
GRCh38: 1:150796896-150796897
21 CTSK NM_000396.4(CTSK):c.826del (p.His276fs) Deletion Likely pathogenic 556938 rs1553196906 GRCh37: 1:150771708-150771708
GRCh38: 1:150799232-150799232
22 CTSK NM_000396.4(CTSK):c.618+2T>G SNV Likely pathogenic 623298 rs75481239 GRCh37: 1:150776495-150776495
GRCh38: 1:150804019-150804019
23 CTSK NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) SNV Likely pathogenic 8426 rs29001685 GRCh37: 1:150769339-150769339
GRCh38: 1:150796863-150796863
24 CTSK NM_000396.4(CTSK):c.669del (p.Tyr224fs) Deletion Likely pathogenic 550217 rs1553196945 GRCh37: 1:150772135-150772135
GRCh38: 1:150799659-150799659
25 CTSK NM_000396.4(CTSK):c.400-1G>C SNV Likely pathogenic 550892 rs1553197262 GRCh37: 1:150776716-150776716
GRCh38: 1:150804240-150804240
26 CTSK NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs) Indel Likely pathogenic 551101 rs1553197239 GRCh37: 1:150776538-150776539
GRCh38: 1:150804062-150804063
27 CTSK NM_000396.4(CTSK):c.784+1G>A SNV Likely pathogenic 551299 rs1553196934 GRCh37: 1:150772019-150772019
GRCh38: 1:150799543-150799543
28 CTSK NM_000396.4(CTSK):c.618+1G>A SNV Likely pathogenic 551416 rs1553197230 GRCh37: 1:150776496-150776496
GRCh38: 1:150804020-150804020
29 CTSK NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) SNV Likely pathogenic 551507 rs1553196900 GRCh37: 1:150771658-150771658
GRCh38: 1:150799182-150799182
30 CTSK NM_000396.4(CTSK):c.3G>A (p.Met1Ile) SNV Likely pathogenic 551777 rs778368118 GRCh37: 1:150779279-150779279
GRCh38: 1:150806803-150806803
31 CTSK NM_000396.4(CTSK):c.243+1G>A SNV Likely pathogenic 371429 rs1057517263 GRCh37: 1:150778577-150778577
GRCh38: 1:150806101-150806101
32 CTSK NM_000396.4(CTSK):c.289_290del (p.Leu97fs) Deletion Likely pathogenic 371513 rs773943327 GRCh37: 1:150778446-150778447
GRCh38: 1:150805970-150805971
33 CTSK NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) SNV Likely pathogenic 371328 rs202040269 GRCh37: 1:150776547-150776547
GRCh38: 1:150804071-150804071
34 CTSK NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) Insertion Likely pathogenic 370625 rs758450569 GRCh37: 1:150772124-150772125
GRCh38: 1:150799648-150799649
35 CTSK NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) SNV Likely pathogenic 371412 rs1057517252 GRCh37: 1:150779256-150779256
GRCh38: 1:150806780-150806780
36 CTSK NM_000396.4(CTSK):c.648del (p.Lys217fs) Deletion Likely pathogenic 370951 rs1057516891 GRCh37: 1:150772156-150772156
GRCh38: 1:150799680-150799680
37 CTSK NM_000396.4(CTSK):c.426del (p.Phe142fs) Deletion Likely pathogenic 370473 rs1057516514 GRCh37: 1:150776689-150776689
GRCh38: 1:150804213-150804213
38 CTSK NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) SNV Likely pathogenic 370960 rs375958814 GRCh37: 1:150769331-150769331
GRCh38: 1:150796855-150796855
39 CTSK NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) SNV Likely pathogenic 371426 rs375958814 GRCh37: 1:150769331-150769331
GRCh38: 1:150796855-150796855
40 CTSK NM_000396.4(CTSK):c.121-2A>G SNV Likely pathogenic 370558 rs1057516587 GRCh37: 1:150778702-150778702
GRCh38: 1:150806226-150806226
41 CTSK NM_000396.4(CTSK):c.120+1G>A SNV Likely pathogenic 371447 rs1057517279 GRCh37: 1:150779161-150779161
GRCh38: 1:150806685-150806685
42 CTSK NM_000396.4(CTSK):c.399+2del Deletion Likely pathogenic 370882 rs1057516839 GRCh37: 1:150778335-150778335
GRCh38: 1:150805859-150805859
43 CTSK NM_000396.4(CTSK):c.423_450del (p.Phe142fs) Deletion Likely pathogenic 370610 rs1057516627 GRCh37: 1:150776665-150776692
GRCh38: 1:150804189-150804216
44 CTSK NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) SNV Likely pathogenic 370345 rs780202604 GRCh37: 1:150778608-150778608
GRCh38: 1:150806132-150806132
45 CTSK NM_000396.4(CTSK):c.395dup (p.Asn132fs) Duplication Likely pathogenic 370731 rs1057516725 GRCh37: 1:150778340-150778341
GRCh38: 1:150805864-150805865
46 CTSK NM_000396.4(CTSK):c.3G>T (p.Met1Ile) SNV Likely pathogenic 371240 rs778368118 GRCh37: 1:150779279-150779279
GRCh38: 1:150806803-150806803
47 CTSK NM_000396.4(CTSK):c.48del (p.Tyr17fs) Deletion Likely pathogenic 370816 rs1057516790 GRCh37: 1:150779234-150779234
GRCh38: 1:150806758-150806758
48 CTSK NM_000396.4(CTSK):c.577C>T (p.Arg193Trp) SNV Uncertain significance 550003 rs747914097 GRCh37: 1:150776538-150776538
GRCh38: 1:150804062-150804062
49 CTSK NM_000396.4(CTSK):c.114_116CAA[1] (p.Asn39del) Microsatellite Uncertain significance 553284 rs750595350 GRCh37: 1:150779163-150779165
GRCh38: 1:150806687-150806689
50 CTSK NM_000396.3(CTSK):c.-72T>C SNV Uncertain significance 292589 rs187955801 GRCh37: 1:150780760-150780760
GRCh38: 1:150808284-150808284

UniProtKB/Swiss-Prot genetic disease variations for Pycnodysostosis:

72
# Symbol AA change Variation ID SNP ID
1 CTSK p.Gly146Arg VAR_006725 rs74315302
2 CTSK p.Leu309Pro VAR_006726 rs29001685
3 CTSK p.Gly79Glu VAR_015738 rs74315305
4 CTSK p.Ala277Val VAR_015739 rs74315304
5 CTSK p.Arg122Pro VAR_074023
6 CTSK p.Tyr283Cys VAR_074024

Sources

Expression for Pycnodysostosis

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Search GEO for disease gene expression data for Pycnodysostosis.
Sources

Pathways for Pycnodysostosis

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Pathways related to Pycnodysostosis according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142
2 Toll-like receptor signaling pathway hsa04620

Pathways related to Pycnodysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
RANK Signaling in Osteoclasts 63
Show member pathways
 12.25 TNFSF11 MITF CTSK ACP5
2
Lysosome 36
11.56 TCIRG1 CTSL CTSK ACP5
3
IL-6 signaling pathway 1
Show member pathways
 11.43 TNFSF11 MITF IL6R
4
Mitophagy - animal 36
11.27 TFEB TFE3 MITF
5
Rheumatoid arthritis 36
10.99 TNFSF11 TCIRG1 CTSL CTSK ACP5
6
Osteoclast Signaling 1
10.34 TNFSF11 CTSK ACP5
Sources

GO Terms for Pycnodysostosis

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Cellular components related to Pycnodysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.72 SPARC PLEKHM1 CTSL CTSK CLCN7
2 apical plasma membrane GO:0016324 9.56 TCIRG1 IL6R CTSL CTSK
3 lysosomal membrane GO:0005765 9.35 TFEB TCIRG1 PLEKHM1 OSTM1 CLCN7
4 lysosome GO:0005764 9.23 TFEB TCIRG1 PLEKHM1 OSTM1 CTSL CTSK
5 endolysosome lumen GO:0036021 9.16 CTSL CTSK

Biological processes related to Pycnodysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.65 TFEB TCIRG1 PLEKHM1
2 ossification GO:0001503 9.55 TNFSF11 TCIRG1 SPARC SOST ACP5
3 lysosome localization GO:0032418 9.46 TFEB PLEKHM1
4 positive regulation of bone resorption GO:0045780 9.43 TNFSF11 PLEKHM1
5 regulation of osteoclast differentiation GO:0045670 9.43 TNFSF11 TFE3 MITF
6 regulation of keratinocyte differentiation GO:0045616 9.4 CTSL CTSK
7 tooth eruption GO:0044691 9.37 TNFSF11 TCIRG1
8 osteoclast proliferation GO:0002158 9.32 TNFSF11 TCIRG1
9 osteoclast differentiation GO:0030316 9.26 TNFSF11 TCIRG1 OSTM1 MITF
10 bone resorption GO:0045453 8.92 TNFSF11 TCIRG1 CTSK ACP5

Molecular functions related to Pycnodysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 9.43 TFEB TFE3 MITF
2 fibronectin binding GO:0001968 9.16 CTSL CTSK
3 proteoglycan binding GO:0043394 8.96 CTSL CTSK
4 collagen binding GO:0005518 8.8 SPARC CTSL CTSK
Sources

Sources for Pycnodysostosis

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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