PKND
MCID: PYC001
MIFTS: 47

Pycnodysostosis (PKND)

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

Aliases & Classifications for Pycnodysostosis

MalaCards integrated aliases for Pycnodysostosis:

Name: Pycnodysostosis 58 12 77 54 60 76 38 13 56 45 15 41 74
Pyknodysostosis 58 54 60 30 6
Pknd 58 54 76
Pycd 58 54
Pyknodysostosis; Pknd 58

Characteristics:

Orphanet epidemiological data:

60
pycnodysostosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
pycnodysostosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pycnodysostosis

NIH Rare Diseases : 54 Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities. Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzymecathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.

MalaCards based summary : Pycnodysostosis, also known as pyknodysostosis, is related to osteopetrosis and cleidocranial dysplasia, 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, testes and skin, and related phenotypes are malar flattening and frontal bossing

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.

UniProtKB/Swiss-Prot : 76 Pycnodysostosis: A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone.

Wikipedia : 77 Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense",dys ("defective"), and ostosis ("condition... more...

Description from OMIM: 265800

Related Diseases for Pycnodysostosis

Graphical network of the top 20 diseases related to Pycnodysostosis:



Diseases related to Pycnodysostosis

Symptoms & Phenotypes for Pycnodysostosis

Human phenotypes related to Pycnodysostosis:

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
4 narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000189
5 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
6 abnormal vertebral morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003468
7 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
8 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
9 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
10 short toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0001831
11 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
12 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
13 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
14 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
15 osteolysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002797
16 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
17 abnormality of the clavicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0000889
18 persistent open anterior fontanelle 60 33 hallmark (90%) Very frequent (99-80%) HP:0004474
19 abnormal pelvis bone ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0009106
20 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
21 wormian bones 60 33 frequent (33%) Frequent (79-30%) HP:0002645
22 bone pain 60 33 frequent (33%) Frequent (79-30%) HP:0002653
23 abnormality of dental morphology 60 33 frequent (33%) Frequent (79-30%) HP:0006482
24 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
25 blue sclerae 60 33 frequent (33%) Frequent (79-30%) HP:0000592
26 ridged nail 60 33 frequent (33%) Frequent (79-30%) HP:0001807
27 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
28 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
29 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
30 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
31 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
32 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
33 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
34 narrow chest 60 33 occasional (7.5%) Occasional (29-5%) HP:0000774
35 osteomyelitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002754
36 abnormality of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000951
37 abnormal pattern of respiration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002793
38 abnormality of pelvic girdle bone morphology 60 33 Occasional (29-5%) HP:0002644
39 scoliosis 33 HP:0002650
40 abnormality of the dentition 60 Frequent (79-30%)
41 carious teeth 33 HP:0000670
42 abnormality of the nail 60 Occasional (29-5%)
43 micrognathia 33 HP:0000347
44 abnormality of the thorax 33 HP:0000765
45 prominent occiput 33 HP:0000269
46 abnormality of the fingernails 60 Very frequent (99-80%)
47 abnormality of the skeletal system 60 Very frequent (99-80%)
48 abnormality of the face 60 Very frequent (99-80%)
49 spondylolisthesis 33 HP:0003302
50 hypodontia 33 HP:0000668

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Pycnodysostosis:


grooving of nail

MGI Mouse Phenotypes related to Pycnodysostosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.95 ATP6V0D2 CLCN7 CTSK GPR68 IL6R MITF
2 hematopoietic system MP:0005397 9.95 ATP6V0D2 CLCN7 CTSK EDARADD GPR68 IL6R
3 homeostasis/metabolism MP:0005376 9.85 CLCN7 CTSK EDARADD GPR68 IL6R MITF
4 endocrine/exocrine gland MP:0005379 9.83 CTSK EDARADD GPR68 IL6R MITF
5 immune system MP:0005387 9.8 ATP6V0D2 CLCN7 CTSK GPR68 IL6R MITF
6 craniofacial MP:0005382 9.76 CLCN7 CTSK EDARADD MITF
7 limbs/digits/tail MP:0005371 9.56 CLCN7 CTSK EDARADD MITF
8 pigmentation MP:0001186 9.33 CLCN7 EDARADD MITF
9 respiratory system MP:0005388 9.26 CLCN7 CTSK EDARADD GPR68
10 skeleton MP:0005390 9.1 ATP6V0D2 CLCN7 CTSK EDARADD GPR68 MITF

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 30 CTSK

Anatomical Context for Pycnodysostosis

MalaCards organs/tissues related to Pycnodysostosis:

42
Bone, Testes, Skin, Thyroid, Heart

Publications for Pycnodysostosis

Articles related to Pycnodysostosis:

(show top 50) (show all 228)
# Title Authors Year
1
Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox? ( 30394969 )
2019
2
A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report. ( 30967749 )
2019
3
Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients. ( 31048950 )
2019
4
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor. ( 29441215 )
2018
5
An Update on Osteomyelitis Treatment in a Pycnodysostosis Patient. ( 30030999 )
2018
6
Short stature and bone structure abnormalities in two siblings. Pycnodysostosis (also known as osteopetrosis acro-osteolytica). ( 29687148 )
2018
7
Traumatic cervical spine injuries in a patient with pycnodysostosis. ( 29480369 )
2018
8
Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect. ( 29796728 )
2018
9
Pycnodysostosis: the disease of Henri de Toulouse-Lautrec. ( 29797092 )
2018
10
Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T. ( 30199612 )
2018
11
Anaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery. ( 30538866 )
2018
12
Bilateral choanal atresia in an adult woman with pycnodysostosis. ( 27933642 )
2017
13
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes. ( 28328823 )
2017
14
Pycnodysostosis: Clinicoradiographic Report of a Rare Case. ( 28566865 )
2017
15
Pycnodysostosis at otorhinolaryngology. ( 28576543 )
2017
16
Clinical and radiographic features of pycnodysostosis: A case report. ( 29167721 )
2017
17
Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems. ( 29318055 )
2017
18
Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report. ( 29390266 )
2017
19
Fracture Management in Pyknodysostosis - A Rare Case Report. ( 29051881 )
2017
20
Pycnodysostosis presenting as atypical stridor. ( 26856677 )
2016
21
Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences. ( 27001692 )
2016
22
Risk of difficult intubation may increase with age in pediatric patients with pycnodysostosis. ( 27059420 )
2016
23
Pycnodysostosis: mutation spectrum in five unrelated Indian children. ( 27092432 )
2016
24
Oral Lesions in Pycnodysostosis Syndrome: Eleven Years of Follow-Up. ( 27483107 )
2016
25
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. ( 27558267 )
2016
26
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases. ( 27562807 )
2016
27
Short stature Revealing a Pycnodysostosis: A Case Report. ( 27703936 )
2016
28
Accordion Maneuver with Modified Ilizarov Frame for treatment of recalcitrant nonunion of shaft of femur in a patient with Pycnodysostosis. ( 28018070 )
2016
29
Left clavicular fracture. Pyknodysostosis. ( 26746201 )
2016
30
Papilledema from craniosynostosis in pycnodysostosis. ( 25451018 )
2015
31
Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy. ( 26283855 )
2015
32
Osteomyelitis in pycnodysostosis - report of 2 clinical cases. ( 25738091 )
2015
33
Pycnodysostosis and the making of an artist. ( 25280595 )
2015
34
Novel mutation and white matter involvement in an Indian child with pycnodysostosis. ( 25304337 )
2015
35
A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin. ( 25725806 )
2015
36
Pycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament. ( 25901243 )
2015
37
Atypical femur fractures in a patient with pycnodysostosis: a case report. ( 26040945 )
2015
38
Pycnodysostosis with a patella fracture. ( 26143287 )
2015
39
Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis. ( 26448892 )
2015
40
Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. ( 26649209 )
2015
41
Pycnodysostosis: A rare cause of short stature. ( 26663972 )
2015
42
Clinical and cephalometric analysis of three cases with pycnodysostosis: case reports. ( 28955526 )
2015
43
Case Report - Pyknodysostosis. ( 26155532 )
2015
44
A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt. ( 25414231 )
2014
45
Unusual feature of pycnodysostosis: pectus carinatum. ( 24938251 )
2014
46
Challenges in the orthodontic treatment of a patient with pycnodysostosis. ( 23786531 )
2014
47
A case of pycnodysostosis presented with pathological femoral shaft fracture. ( 24604056 )
2014
48
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review. ( 24715708 )
2014
49
Clinical and radiographic maxillofacial features of pycnodysostosis. ( 24753741 )
2014
50
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. ( 24767306 )
2014

Variations for Pycnodysostosis

UniProtKB/Swiss-Prot genetic disease variations for Pycnodysostosis:

76
# 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

ClinVar genetic disease variations for Pycnodysostosis:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSK NM_000396.3(CTSK): c.154A> T (p.Lys52Ter) single nucleotide variant Pathogenic rs74315306 GRCh38 Chromosome 1, 150806191: 150806191
2 CTSK NM_000396.3(CTSK): c.926T> C (p.Leu309Pro) single nucleotide variant Likely pathogenic rs29001685 GRCh37 Chromosome 1, 150769339: 150769339
3 CTSK NM_000396.3(CTSK): c.990A> G (p.Ter330Trp) single nucleotide variant Pathogenic rs74315301 GRCh37 Chromosome 1, 150769275: 150769275
4 CTSK NM_000396.3(CTSK): c.990A> G (p.Ter330Trp) single nucleotide variant Pathogenic rs74315301 GRCh38 Chromosome 1, 150796799: 150796799
5 CTSK NM_000396.3(CTSK): c.436G> C (p.Gly146Arg) single nucleotide variant Pathogenic rs74315302 GRCh37 Chromosome 1, 150776679: 150776679
6 CTSK NM_000396.3(CTSK): c.436G> C (p.Gly146Arg) single nucleotide variant Pathogenic rs74315302 GRCh38 Chromosome 1, 150804203: 150804203
7 CTSK NM_000396.3(CTSK): c.721C> T (p.Arg241Ter) single nucleotide variant Likely pathogenic rs74315303 GRCh37 Chromosome 1, 150772083: 150772083
8 CTSK NM_000396.3(CTSK): c.721C> T (p.Arg241Ter) single nucleotide variant Likely pathogenic rs74315303 GRCh38 Chromosome 1, 150799607: 150799607
9 CTSK NM_000396.3(CTSK): c.830C> T (p.Ala277Val) single nucleotide variant Likely pathogenic rs74315304 GRCh37 Chromosome 1, 150771704: 150771704
10 CTSK NM_000396.3(CTSK): c.830C> T (p.Ala277Val) single nucleotide variant Likely pathogenic rs74315304 GRCh38 Chromosome 1, 150799228: 150799228
11 CTSK NM_000396.3(CTSK): c.236G> A (p.Gly79Glu) single nucleotide variant Pathogenic rs74315305 GRCh37 Chromosome 1, 150778585: 150778585
12 CTSK NM_000396.3(CTSK): c.236G> A (p.Gly79Glu) single nucleotide variant Pathogenic rs74315305 GRCh38 Chromosome 1, 150806109: 150806109
13 CTSK NM_000396.3(CTSK): c.154A> T (p.Lys52Ter) single nucleotide variant Pathogenic rs74315306 GRCh37 Chromosome 1, 150778667: 150778667
14 CTSK NM_000396.3(CTSK): c.926T> C (p.Leu309Pro) single nucleotide variant Likely pathogenic rs29001685 GRCh38 Chromosome 1, 150796863: 150796863
15 CTSK NM_000396.3(CTSK): c.-1-9C> T single nucleotide variant Uncertain significance rs200480574 GRCh37 Chromosome 1, 150779291: 150779291
16 CTSK NM_000396.3(CTSK): c.-1-9C> T single nucleotide variant Uncertain significance rs200480574 GRCh38 Chromosome 1, 150806815: 150806815
17 CTSK NM_000396.3(CTSK): c.684C> T (p.Pro228=) single nucleotide variant Uncertain significance rs142097792 GRCh37 Chromosome 1, 150772120: 150772120
18 CTSK NM_000396.3(CTSK): c.684C> T (p.Pro228=) single nucleotide variant Uncertain significance rs142097792 GRCh38 Chromosome 1, 150799644: 150799644
19 CTSK NM_000396.3(CTSK): c.490C> A (p.Pro164Thr) single nucleotide variant Uncertain significance rs886045274 GRCh37 Chromosome 1, 150776625: 150776625
20 CTSK NM_000396.3(CTSK): c.490C> A (p.Pro164Thr) single nucleotide variant Uncertain significance rs886045274 GRCh38 Chromosome 1, 150804149: 150804149
21 CTSK NM_000396.3(CTSK): c.-185C> T single nucleotide variant Uncertain significance rs886045275 GRCh37 Chromosome 1, 150780873: 150780873
22 CTSK NM_000396.3(CTSK): c.-185C> T single nucleotide variant Uncertain significance rs886045275 GRCh38 Chromosome 1, 150808397: 150808397
23 CTSK NM_000396.3(CTSK): c.675A> G (p.Arg225=) single nucleotide variant Uncertain significance rs41271965 GRCh37 Chromosome 1, 150772129: 150772129
24 CTSK NM_000396.3(CTSK): c.675A> G (p.Arg225=) single nucleotide variant Uncertain significance rs41271965 GRCh38 Chromosome 1, 150799653: 150799653
25 CTSK NM_000396.3(CTSK): c.115A> T (p.Asn39Tyr) single nucleotide variant Uncertain significance rs771768736 GRCh37 Chromosome 1, 150779167: 150779167
26 CTSK NM_000396.3(CTSK): c.115A> T (p.Asn39Tyr) single nucleotide variant Uncertain significance rs771768736 GRCh38 Chromosome 1, 150806691: 150806691
27 CTSK NM_000396.3(CTSK): c.-91G> A single nucleotide variant Uncertain significance rs587638612 GRCh37 Chromosome 1, 150780779: 150780779
28 CTSK NM_000396.3(CTSK): c.-91G> A single nucleotide variant Uncertain significance rs587638612 GRCh38 Chromosome 1, 150808303: 150808303
29 CTSK NM_000396.3(CTSK): c.812G> A (p.Ser271Asn) single nucleotide variant Uncertain significance rs183135762 GRCh37 Chromosome 1, 150771722: 150771722
30 CTSK NM_000396.3(CTSK): c.812G> A (p.Ser271Asn) single nucleotide variant Uncertain significance rs183135762 GRCh38 Chromosome 1, 150799246: 150799246
31 CTSK NM_000396.3(CTSK): c.244-10_244-8delTTT deletion Uncertain significance rs774922287 GRCh37 Chromosome 1, 150778500: 150778502
32 CTSK NM_000396.3(CTSK): c.244-10_244-8delTTT deletion Uncertain significance rs774922287 GRCh38 Chromosome 1, 150806024: 150806026
33 CTSK NM_000396.3(CTSK): c.169A> G (p.Ile57Val) single nucleotide variant Uncertain significance rs201446793 GRCh37 Chromosome 1, 150778652: 150778652
34 CTSK NM_000396.3(CTSK): c.169A> G (p.Ile57Val) single nucleotide variant Uncertain significance rs201446793 GRCh38 Chromosome 1, 150806176: 150806176
35 CTSK NM_000396.3(CTSK): c.890+6G> A single nucleotide variant Uncertain significance rs886045273 GRCh37 Chromosome 1, 150771638: 150771638
36 CTSK NM_000396.3(CTSK): c.890+6G> A single nucleotide variant Uncertain significance rs886045273 GRCh38 Chromosome 1, 150799162: 150799162
37 CTSK NM_000396.3(CTSK): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs774888582 GRCh37 Chromosome 1, 150776564: 150776564
38 CTSK NM_000396.3(CTSK): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs774888582 GRCh38 Chromosome 1, 150804088: 150804088
39 CTSK NM_000396.3(CTSK): c.-72T> C single nucleotide variant Uncertain significance rs187955801 GRCh37 Chromosome 1, 150780760: 150780760
40 CTSK NM_000396.3(CTSK): c.-72T> C single nucleotide variant Uncertain significance rs187955801 GRCh38 Chromosome 1, 150808284: 150808284
41 CTSK NM_000396.3(CTSK): c.243+1G> A single nucleotide variant Likely pathogenic rs1057517263 GRCh38 Chromosome 1, 150806101: 150806101
42 CTSK NM_000396.3(CTSK): c.213T> A (p.Tyr71Ter) single nucleotide variant Likely pathogenic rs780202604 GRCh37 Chromosome 1, 150778608: 150778608
43 CTSK NM_000396.3(CTSK): c.213T> A (p.Tyr71Ter) single nucleotide variant Likely pathogenic rs780202604 GRCh38 Chromosome 1, 150806132: 150806132
44 CTSK NM_000396.3(CTSK): c.243+1G> A single nucleotide variant Likely pathogenic rs1057517263 GRCh37 Chromosome 1, 150778577: 150778577
45 CTSK NM_000396.3(CTSK): c.934C> T (p.Arg312Ter) single nucleotide variant Likely pathogenic rs375958814 GRCh37 Chromosome 1, 150769331: 150769331
46 CTSK NM_000396.3(CTSK): c.934C> T (p.Arg312Ter) single nucleotide variant Likely pathogenic rs375958814 GRCh38 Chromosome 1, 150796855: 150796855
47 CTSK NM_000396.3(CTSK): c.934C> G (p.Arg312Gly) single nucleotide variant Likely pathogenic rs375958814 GRCh37 Chromosome 1, 150769331: 150769331
48 CTSK NM_000396.3(CTSK): c.934C> G (p.Arg312Gly) single nucleotide variant Likely pathogenic rs375958814 GRCh38 Chromosome 1, 150796855: 150796855
49 CTSK NM_000396.3(CTSK): c.679_680insAA (p.Ile227Lysfs) insertion Likely pathogenic rs758450569 GRCh37 Chromosome 1, 150772124: 150772125
50 CTSK NM_000396.3(CTSK): c.679_680insAA (p.Ile227Lysfs) insertion Likely pathogenic rs758450569 GRCh38 Chromosome 1, 150799648: 150799649

Expression for Pycnodysostosis

Search GEO for disease gene expression data for Pycnodysostosis.

Pathways for Pycnodysostosis

Pathways related to Pycnodysostosis according to KEGG:

38
# 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 11.36 CTSK MITF
2 11.25 ATP6V0D2 CTSK
3 10.91 ATP6V0D2 CTSK
4 9.83 CTSK GPR68

GO Terms for Pycnodysostosis

Sources for Pycnodysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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