PKND
MCID: PYC001
MIFTS: 56

Pycnodysostosis (PKND)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Pycnodysostosis

MalaCards integrated aliases for Pycnodysostosis:

Name: Pycnodysostosis 57 11 24 19 58 75 73 12 53 43 14 38 71
Pyknodysostosis 57 24 19 58 28 5
Pknd 57 19 73
Pycd 57 19
Toulouse-Lautrec Syndrome 24

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Pycnodysostosis

GARD: 19 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.

MalaCards based summary: Pycnodysostosis, also known as pyknodysostosis, is related to osteomyelitis and cleidocranial dysplasia 1, and has symptoms including grooving of nail An important gene associated with Pycnodysostosis is CTSK (Cathepsin K), and among its related pathways/superpathways are Clock-controlled autophagy in bone metabolism and IL6-mediated signaling events. Affiliated tissues include bone, skin and pituitary, and related phenotypes are frontal bossing and brachydactyly

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone.

Orphanet: 58 Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

Wikipedia: 75 Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition... more...

More information from OMIM: 265800
GeneReviews: NBK563694

Related Diseases for Pycnodysostosis

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

(show top 50) (show all 195)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 30.6 TNFSF11 CTSK ACP5
2 cleidocranial dysplasia 1 30.1 TNFSF11 CTSK BGLAP
3 endosteal hyperostosis, autosomal dominant 30.0 TNFSF11 TCIRG1 SOST OSTM1 CTSK CLCN7
4 chronic recurrent multifocal osteomyelitis 29.9 TNFSF11 BGLAP
5 scoliosis 29.5 TNFSF11 CTSK BGLAP ACP5
6 fibrous dysplasia 29.4 TNFSF11 SPARC BGLAP
7 periodontitis 29.4 TNFSF11 CTSK BGLAP ACP5
8 paget's disease of bone 29.4 TNFSF11 CTSK BGLAP ACP5
9 microphthalmia 29.2 TNFSF11 TFEB TFE3 MITF CTSK ACP5
10 osteochondrodysplasia 29.2 TNFSF11 TCIRG1 SPARC SOST OSTM1 CTSK
11 bone disease 29.2 TNFSF11 SPARC SOST OSTM1 CTSK CLCN7
12 mammary paget's disease 29.1 TNFSF11 SOST CTSK BGLAP ACP5
13 osteopetrosis, autosomal dominant 2 28.8 TNFSF11 TCIRG1 OSTM1 CTSK CLCN7 BGLAP
14 osteoporosis 28.7 TNFSF11 TCIRG1 SPARC SOST CTSK CLCN7
15 osteopetrosis 28.1 TNFSF11 TFEB TFE3 TCIRG1 SNX10 PLEKHM1
16 mycobacterium tuberculosis 1 10.3
17 acroosteolysis 10.3
18 craniosynostosis 10.3
19 hepatic angiomyolipoma 10.3 TFE3 MITF
20 eosinophilic variant of chromophobe renal cell carcinoma 10.3 TFEB TFE3
21 renal cell carcinoma, xp11-associated 10.3 TFEB TFE3
22 autosomal dominant intellectual developmental disorder 19 10.3 TFE3 MITF
23 osteopetrosis, autosomal recessive 1 10.2 TCIRG1 CLCN7
24 kidney angiomyolipoma 10.2 TFE3 MITF
25 osteopetrosis, autosomal recessive 7 10.2 TCIRG1 CLCN7
26 angiomyolipoma 10.2 TFEB TFE3 MITF
27 beach ear 10.2 TCIRG1 CLCN7
28 uterus perivascular epithelioid cell tumor 10.2 TFE3 MITF CTSK
29 perivascular tumor 10.2 TFE3 MITF CTSK
30 childhood kidney cell carcinoma 10.2 TFEB TFE3 MITF
31 waardenburg syndrome, type 2a 10.2 TFEB TFE3 MITF
32 sleep apnea 10.2
33 collecting duct carcinoma 10.2 TFEB TFE3
34 apnea, obstructive sleep 10.1
35 osteogenesis imperfecta, type vi 10.1 TNFSF11 SOST
36 renal cell carcinoma, papillary, 1 10.1 TFEB TFE3 MITF
37 malignant giant cell tumor 10.1 TNFSF11 ACP5
38 epithelioid type angiomyolipoma 10.1 TFEB TFE3 MITF CTSK
39 femoral cancer 10.1 TNFSF11 ACP5
40 renal oncocytoma 10.1 TFEB TFE3
41 perivascular epithelioid cell tumor 10.1 TFEB TFE3 MITF CTSK
42 alveolar soft part sarcoma 10.1 TFEB TFE3 MITF CTSK
43 dysostosis 10.1
44 axial osteomalacia 10.1 TCIRG1 OSTM1 CLCN7
45 waardenburg syndrome, type 2e 10.1 TFEB MITF
46 fibrogenesis imperfecta ossium 10.1 TCIRG1 OSTM1 CLCN7
47 osteopetrosis, autosomal recessive 5 10.1 TCIRG1 OSTM1 CLCN7
48 osteopetrosis, autosomal recessive 4 10.1 TCIRG1 OSTM1 CLCN7
49 chlamydia 10.1
50 osteopetrosis, autosomal recessive 3 10.1 TCIRG1 OSTM1 CLCN7

Graphical network of the top 20 diseases related to Pycnodysostosis:



Diseases related to Pycnodysostosis

Symptoms & Phenotypes for Pycnodysostosis

Human phenotypes related to Pycnodysostosis:

58 30 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
3 persistent open anterior fontanelle 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004474
4 obtuse angle of mandible 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005446
5 osteolytic defects of the distal phalanges of the hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009839
6 decreased serum insulin-like growth factor 1 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030353
7 delayed pneumatization of the mastoid process 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005906
8 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
9 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
10 proptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000520
11 convex nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000444
12 small hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0200055
13 blue sclerae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000592
14 short finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0009381
15 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0011800
16 hypoplasia of the maxilla 58 30 Frequent (33%) Frequent (79-30%)
HP:0000327
17 generalized osteosclerosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0005789
18 short foot 58 30 Frequent (33%) Frequent (79-30%)
HP:0001773
19 prominent nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000448
20 increased susceptibility to fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002659
21 obstructive sleep apnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002870
22 chronic pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0012532
23 mild conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0008598
24 decreased response to growth hormone stimulation test 30 Frequent (33%) HP:0000824
25 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
26 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
27 dental malocclusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000689
28 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
29 spondylolisthesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003302
30 laryngomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001601
31 hypodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000668
32 wormian bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002645
33 lower limb asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100559
34 delayed eruption of primary teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000680
35 mild global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011342
36 stridor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010307
37 rhizomelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008905
38 persistence of primary teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006335
39 mesomelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003027
40 ridged nail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001807
41 hypoplastic iliac wing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002866
42 delayed eruption of permanent teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000696
43 overweight 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025502
44 spondylolysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003304
45 acromelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010884
46 enamel hypoplasia 30 Occasional (7.5%) HP:0006297
47 abnormal clavicle morphology 30 Occasional (7.5%) HP:0000889
48 kyphosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002808
49 hyperlordosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003307
50 increased intracranial pressure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002516

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Pycnodysostosis:


grooving of nail

GenomeRNAi Phenotypes related to Pycnodysostosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.07 ACP5 BGLAP CHKA CLCN7 CTSK CTSL
2 no effect GR00402-S-2 10.07 ACP5 BGLAP CTSL IL6R OSTM1 PLEKHM1

MGI Mouse Phenotypes related to Pycnodysostosis:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 BGLAP CHKA CLCN7 CTSK CTSL IL6R
2 growth/size/body region MP:0005378 10.25 CLCN7 CTSK CTSL IL6R MITF OSTM1
3 limbs/digits/tail MP:0005371 10.2 ACP5 CLCN7 CTSK MITF OSTM1 PLEKHM1
4 immune system MP:0005387 10.17 ACP5 BGLAP CLCN7 CTSK CTSL IL6R
5 normal MP:0002873 10.13 CLCN7 IL6R MITF PLEKHM1 SOST TCIRG1
6 skeleton MP:0005390 10.13 ACP5 BGLAP CLCN7 CTSK CTSL MITF
7 craniofacial MP:0005382 10.07 CLCN7 CTSK CTSL MITF OSTM1 SNX10
8 pigmentation MP:0001186 9.97 CLCN7 MITF OSTM1 SPARC TFE3 TFEB
9 vision/eye MP:0005391 9.85 CLCN7 CTSL MITF OSTM1 PLEKHM1 SNX10
10 hematopoietic system MP:0005397 9.83 ACP5 BGLAP CLCN7 CTSK CTSL IL6R
11 integument MP:0010771 9.23 CLCN7 CTSL MITF OSTM1 SPARC TFE3

Drugs & Therapeutics for Pycnodysostosis

Search Clinical Trials, NIH Clinical Center for Pycnodysostosis

Cochrane evidence based reviews: pycnodysostosis

Genetic Tests for Pycnodysostosis

Genetic tests related to Pycnodysostosis:

# Genetic test Affiliating Genes
1 Pyknodysostosis 28 CTSK

Anatomical Context for Pycnodysostosis

Organs/tissues related to Pycnodysostosis:

MalaCards : Bone, Skin, Pituitary, Thyroid, Heart, Liver, Brain

Publications for Pycnodysostosis

Articles related to Pycnodysostosis:

(show top 50) (show all 449)
# Title Authors PMID Year
1
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. 53 62 57 5
9529353 1998
2
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. 53 62 57 5
8703060 1996
3
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. 62 57 5
10074491 1999
4
The gene for pycnodysostosis maps to human chromosome 1cen-q21. 62 57 5
7663522 1995
5
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. 62 24 5
24767306 2014
6
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. 62 24 5
21569238 2011
7
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. 53 62 5
19674475 2009
8
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. 53 62 5
17397052 2007
9
Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. 53 62 5
15070910 2004
10
Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts. 53 62 5
12874701 2003
11
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. 53 62 5
10571690 1999
12
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. 53 62 5
8938428 1996
13
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. 53 62 57
7663521 1995
14
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor. 62 5
29441215 2018
15
Pycnodysostosis: mutation spectrum in five unrelated Indian children. 62 5
27092432 2016
16
Challenges in the orthodontic treatment of a patient with pycnodysostosis. 62 5
23786531 2014
17
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. 62 5
24269275 2014
18
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis. 62 5
22822386 2012
19
Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K). 62 5
21099701 2011
20
Use of CBCT in the orthodontic diagnosis of a patient with pycnodysostosis. 62 5
21217630 2010
21
Near normalization of adult height and body proportions by growth hormone in pycnodysostosis. 53 62 24
20357177 2010
22
High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. 62 5
17206399 2007
23
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. 62 5
10878663 2000
24
Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. 62 5
10634420 2000
25
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. 62 5
10491211 1999
26
Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment. 62 57
8976667 1996
27
Pycnodysostosis. Orthopedic aspects with a description of 14 new cases. 62 57
1611757 1992
28
Porencephalic cyst in pycnodysostosis. 62 57
2614800 1989
29
Pycnodysostosis. 62 57
3172150 1988
30
Pycnodysostosis. A clinical, pathological, and ultramicroscopic study of a case. 62 57
721866 1978
31
Pycnodysostosis. A case report. 62 57
102649 1978
32
Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report. 62 57
1277671 1976
33
Pycnodysostosis. A variant form with visceral manifestations. 62 57
5086514 1972
34
[A genetic study of pycnodysostosis]. 62 57
4537729 1972
35
Pycnodysostosis. Clinical and genetic considerations. 62 57
5657357 1968
36
Pycnodysostosis. 62 57
5935756 1966
37
Pycnodysostosis, with a familial chromosome anomaly. 62 57
5902268 1966
38
[Pyknodysostosis]. 62 57
14470123 1962
39
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review. 62 24
31237352 2019
40
Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients. 62 24
31048950 2019
41
Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect. 62 24
29796728 2018
42
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis. 62 24
26892377 2016
43
Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. 62 24
26649209 2015
44
Current research on pycnodysostosis. 62 24
25364650 2014
45
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review. 62 24
24715708 2014
46
Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings. 62 24
25550899 2014
47
A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with Pyknodysostosis. 62 24
23506830 2013
48
Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features. 62 24
21968522 2012
49
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. 62 24
20814951 2010
50
Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. 62 24
11474477 2001

Variations for Pycnodysostosis

ClinVar genetic disease variations for Pycnodysostosis:

5 (show top 50) (show all 104)
# 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.891-1G>T SNV Pathogenic
623333 rs1557823855 GRCh37: 1:150769375-150769375
GRCh38: 1:150796899-150796899
5 CTSK NM_000396.4(CTSK):c.5G>A (p.Trp2Ter) SNV Pathogenic
982107 rs1654102585 GRCh37: 1:150779277-150779277
GRCh38: 1:150806801-150806801
6 CTSK NM_000396.4(CTSK):c.458del (p.Lys153fs) DEL Pathogenic
981506 GRCh37: 1:150776657-150776657
GRCh38: 1:150804181-150804181
7 CTSK NM_000396.4(CTSK):c.907G>A (p.Gly303Arg) SNV Pathogenic
981508 GRCh37: 1:150769358-150769358
GRCh38: 1:150796882-150796882
8 CTSK NM_000396.4(CTSK):c.402del (p.Gln135fs) DEL Pathogenic
981511 GRCh37: 1:150776713-150776713
GRCh38: 1:150804237-150804237
9 CTSK NM_000396.4(CTSK):c.120+1G>T SNV Pathogenic
1332837 GRCh37: 1:150779161-150779161
GRCh38: 1:150806685-150806685
10 CTSK NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) SNV Pathogenic
8421 rs74315302 GRCh37: 1:150776679-150776679
GRCh38: 1:150804203-150804203
11 CTSK NM_000396.4(CTSK):c.158dup (p.Asn53fs) DUP Pathogenic
954275 rs764168526 GRCh37: 1:150778662-150778663
GRCh38: 1:150806186-150806187
12 CTSK NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) SNV Pathogenic
649051 rs762780994 GRCh37: 1:150769312-150769312
GRCh38: 1:150796836-150796836
13 CTSK NM_000396.4(CTSK):c.83dup (p.Trp29fs) DUP Pathogenic
1685684 GRCh37: 1:150779198-150779199
GRCh38: 1:150806722-150806723
14 CTSK NM_000396.4(CTSK):c.399+1G>A SNV Pathogenic
1332709 GRCh37: 1:150778336-150778336
GRCh38: 1:150805860-150805860
15 CTSK NM_000396.4(CTSK):c.431_432del (p.Ser144fs) MICROSAT Pathogenic
981509 GRCh37: 1:150776683-150776684
GRCh38: 1:150804207-150804208
16 CTSK NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) SNV Pathogenic/Likely Pathogenic
371328 rs202040269 GRCh37: 1:150776547-150776547
GRCh38: 1:150804071-150804071
17 CTSK NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) INSERT Likely Pathogenic
370625 rs758450569 GRCh37: 1:150772124-150772125
GRCh38: 1:150799648-150799649
18 CTSK NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) SNV Likely Pathogenic
371412 rs1057517252 GRCh37: 1:150779256-150779256
GRCh38: 1:150806780-150806780
19 CTSK NM_000396.4(CTSK):c.648del (p.Lys217fs) DEL Likely Pathogenic
370951 rs1057516891 GRCh37: 1:150772156-150772156
GRCh38: 1:150799680-150799680
20 CTSK NM_000396.4(CTSK):c.426del (p.Phe142fs) DEL Likely Pathogenic
370473 rs1057516514 GRCh37: 1:150776689-150776689
GRCh38: 1:150804213-150804213
21 CTSK NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) SNV Likely Pathogenic
370960 rs375958814 GRCh37: 1:150769331-150769331
GRCh38: 1:150796855-150796855
22 CTSK NM_000396.4(CTSK):c.121-2A>G SNV Likely Pathogenic
370558 rs1057516587 GRCh37: 1:150778702-150778702
GRCh38: 1:150806226-150806226
23 CTSK NM_000396.4(CTSK):c.120+1G>A SNV Likely Pathogenic
371447 rs1057517279 GRCh37: 1:150779161-150779161
GRCh38: 1:150806685-150806685
24 CTSK NM_000396.4(CTSK):c.399+2del DEL Likely Pathogenic
370882 rs1057516839 GRCh37: 1:150778335-150778335
GRCh38: 1:150805859-150805859
25 CTSK NM_000396.4(CTSK):c.423_450del (p.Phe142fs) DEL Likely Pathogenic
370610 rs1057516627 GRCh37: 1:150776665-150776692
GRCh38: 1:150804189-150804216
26 CTSK NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) SNV Likely Pathogenic
370345 rs780202604 GRCh37: 1:150778608-150778608
GRCh38: 1:150806132-150806132
27 CTSK NM_000396.4(CTSK):c.395dup (p.Asn132fs) DUP Likely Pathogenic
370731 rs1057516725 GRCh37: 1:150778340-150778341
GRCh38: 1:150805864-150805865
28 CTSK NM_000396.4(CTSK):c.3G>T (p.Met1Ile) SNV Likely Pathogenic
371240 rs778368118 GRCh37: 1:150779279-150779279
GRCh38: 1:150806803-150806803
29 CTSK NM_000396.4(CTSK):c.48del (p.Tyr17fs) DEL Likely Pathogenic
370816 rs1057516790 GRCh37: 1:150779234-150779234
GRCh38: 1:150806758-150806758
30 CTSK NM_000396.4(CTSK):c.826C>T (p.His276Tyr) SNV Likely Pathogenic
801542 rs1571123333 GRCh37: 1:150771708-150771708
GRCh38: 1:150799232-150799232
31 CTSK NM_000396.4(CTSK):c.830C>T (p.Ala277Val) SNV Likely Pathogenic
8423 rs74315304 GRCh37: 1:150771704-150771704
GRCh38: 1:150799228-150799228
32 CTSK NM_000396.4(CTSK):c.243+1G>A SNV Likely Pathogenic
371429 rs1057517263 GRCh37: 1:150778577-150778577
GRCh38: 1:150806101-150806101
33 CTSK NM_000396.4(CTSK):c.289_290del (p.Leu97fs) DEL Likely Pathogenic
371513 rs773943327 GRCh37: 1:150778446-150778447
GRCh38: 1:150805970-150805971
34 CTSK NM_000396.4(CTSK):c.669del (p.Tyr224fs) DEL Likely Pathogenic
550217 rs1553196945 GRCh37: 1:150772135-150772135
GRCh38: 1:150799659-150799659
35 CTSK NM_000396.4(CTSK):c.400-1G>C SNV Likely Pathogenic
550892 rs1553197262 GRCh37: 1:150776716-150776716
GRCh38: 1:150804240-150804240
36 CTSK NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs) INDEL Likely Pathogenic
551101 rs1553197239 GRCh37: 1:150776538-150776539
GRCh38: 1:150804062-150804063
37 CTSK NM_000396.4(CTSK):c.618+1G>A SNV Likely Pathogenic
551416 rs1553197230 GRCh37: 1:150776496-150776496
GRCh38: 1:150804020-150804020
38 CTSK NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) SNV Likely Pathogenic
551507 rs1553196900 GRCh37: 1:150771658-150771658
GRCh38: 1:150799182-150799182
39 CTSK NM_000396.4(CTSK):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
551777 rs778368118 GRCh37: 1:150779279-150779279
GRCh38: 1:150806803-150806803
40 CTSK NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) SNV Likely Pathogenic
8426 rs29001685 GRCh37: 1:150769339-150769339
GRCh38: 1:150796863-150796863
41 CTSK NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) SNV Likely Pathogenic
8422 rs74315303 GRCh37: 1:150772083-150772083
GRCh38: 1:150799607-150799607
42 CTSK NM_000396.4(CTSK):c.784+1G>A SNV Likely Pathogenic
551299 rs1553196934 GRCh37: 1:150772019-150772019
GRCh38: 1:150799543-150799543
43 CTSK NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) SNV Likely Pathogenic
553560 rs371277428 GRCh37: 1:150778685-150778685
GRCh38: 1:150806209-150806209
44 CTSK NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) SNV Likely Pathogenic
371426 rs375958814 GRCh37: 1:150769331-150769331
GRCh38: 1:150796855-150796855
45 CTSK NM_000396.4(CTSK):c.826del (p.His276fs) DEL Likely Pathogenic
556938 rs1553196906 GRCh37: 1:150771708-150771708
GRCh38: 1:150799232-150799232
46 CTSK NM_000396.4(CTSK):c.148T>G (p.Trp50Gly) SNV Likely Pathogenic
1332840 GRCh37: 1:150778673-150778673
GRCh38: 1:150806197-150806197
47 CTSK NM_000396.4(CTSK):c.827A>G (p.His276Arg) SNV Likely Pathogenic
983497 GRCh37: 1:150771707-150771707
GRCh38: 1:150799231-150799231
48 CTSK NM_000396.4(CTSK):c.746T>A (p.Ile249Asn) SNV Likely Pathogenic
1301984 GRCh37: 1:150772058-150772058
GRCh38: 1:150799582-150799582
49 CTSK NM_000396.4(CTSK):c.556T>C (p.Phe186Leu) SNV Likely Pathogenic
981507 GRCh37: 1:150776559-150776559
GRCh38: 1:150804083-150804083
50 CTSK NM_000396.4(CTSK):c.891-21_892dup DUP Likely Pathogenic
554307 rs1553196764 GRCh37: 1:150769372-150769373
GRCh38: 1:150796896-150796897

UniProtKB/Swiss-Prot genetic disease variations for Pycnodysostosis:

73
# 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

Expression for Pycnodysostosis

Search GEO for disease gene expression data for Pycnodysostosis.

Pathways for Pycnodysostosis

GO Terms for Pycnodysostosis

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.85 TFEB TCIRG1 PLEKHM1 OSTM1 CLCN7
2 lysosome GO:0005764 9.4 TFEB TCIRG1 PLEKHM1 OSTM1 CTSL CTSK
3 endolysosome lumen GO:0036021 9.26 CTSL CTSK

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

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.87 TNFSF11 TCIRG1 SOST BGLAP
2 cellular response to zinc ion starvation GO:0034224 9.73 CTSK BGLAP
3 tooth eruption GO:0044691 9.73 TNFSF11 TCIRG1 SNX10
4 transepithelial chloride transport GO:0030321 9.71 OSTM1 CLCN7
5 regulation of osteoclast differentiation GO:0045670 9.7 BGLAP MITF TFE3 TNFSF11
6 osteoclast proliferation GO:0002158 9.67 TNFSF11 TCIRG1
7 osteoclast differentiation GO:0030316 9.65 TNFSF11 TCIRG1 SNX10 OSTM1 MITF
8 bone resorption GO:0045453 9.32 TNFSF11 TCIRG1 SNX10 CTSK ACP5

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

# Name GO ID Score Top Affiliating Genes
1 proteoglycan binding GO:0043394 9.26 CTSL CTSK
2 collagen binding GO:0005518 9.1 SPARC CTSL CTSK

Sources for Pycnodysostosis

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
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