PKND
MCID: PYC001
MIFTS: 50

Pycnodysostosis (PKND)

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

Aliases & Classifications for Pycnodysostosis

MalaCards integrated aliases for Pycnodysostosis:

Name: Pycnodysostosis 57 12 76 53 59 75 37 13 55 44 15 40 73
Pyknodysostosis 57 53 59 29 6
Pknd 57 53 75
Pycd 57 53
Pyknodysostosis; Pknd 57

Characteristics:

Orphanet epidemiological data:

59
pycnodysostosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pycnodysostosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pycnodysostosis

NIH Rare Diseases : 53 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 : 75 Pycnodysostosis: A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone.

Wikipedia : 76 Pycnodysostosis (from Greek: �?�?κν�?�? (puknos) meaning "dense",dys ("defective"), and ostosis... 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pycnodysostosis:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
6 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
7 narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000189
8 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
9 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
10 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
11 abnormal vertebral morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003468
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
15 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
16 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
17 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
18 wormian bones 59 32 frequent (33%) Frequent (79-30%) HP:0002645
19 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
20 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
21 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
22 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
23 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
24 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
25 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
26 abnormality of pelvic girdle bone morphology 59 32 Occasional (29-5%) HP:0002644
27 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
28 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
29 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
30 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
31 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
32 blue sclerae 59 32 frequent (33%) Frequent (79-30%) HP:0000592
33 abnormality of the clavicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000889
34 ridged nail 59 32 frequent (33%) Frequent (79-30%) HP:0001807
35 abnormality of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000951
36 abnormal pattern of respiration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002793
37 persistent open anterior fontanelle 59 32 hallmark (90%) Very frequent (99-80%) HP:0004474
38 abnormal pelvis bone ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0009106
39 scoliosis 32 HP:0002650
40 abnormality of the dentition 59 Frequent (79-30%)
41 carious teeth 32 HP:0000670
42 abnormality of the nail 59 Occasional (29-5%)
43 micrognathia 32 HP:0000347
44 abnormality of the thorax 32 HP:0000765
45 prominent occiput 32 HP:0000269
46 abnormality of the skeletal system 59 Very frequent (99-80%)
47 abnormality of the face 59 Very frequent (99-80%)
48 spondylolisthesis 32 HP:0003302
49 hypodontia 32 HP:0000668
50 increased bone mineral density 32 HP:0011001

UMLS symptoms related to Pycnodysostosis:


grooving of nail

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.28 SLC26A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.28 SLC26A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.28 SLC26A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.28 MITF SLC26A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.28 SLC26A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.28 SLC26A2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.28 MITF
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.28 MITF

MGI Mouse Phenotypes related to Pycnodysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.88 ATP6V0D2 CLCN7 CTSK IL6R MITF SLC26A2
2 growth/size/body region MP:0005378 9.8 CLCN7 CTSK EDARADD IL6R MITF SLC26A2
3 craniofacial MP:0005382 9.77 CLCN7 CTSK EDARADD MITF SLC26A2
4 hematopoietic system MP:0005397 9.73 ATP6V0D2 CLCN7 CTSK EDARADD IL6R MITF
5 limbs/digits/tail MP:0005371 9.55 CLCN7 CTSK EDARADD MITF SLC26A2
6 pigmentation MP:0001186 9.13 CLCN7 EDARADD MITF
7 skeleton MP:0005390 9.1 ATP6V0D2 CLCN7 CTSK EDARADD MITF SLC26A2

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 29 CTSK

Anatomical Context for Pycnodysostosis

MalaCards organs/tissues related to Pycnodysostosis:

41
Bone, Testes, Skin, Liver, Heart, Thyroid

Publications for Pycnodysostosis

Articles related to Pycnodysostosis:

(show top 50) (show all 222)
# Title Authors Year
1
Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect. ( 29796728 )
2018
2
Pycnodysostosis: the disease of Henri de Toulouse-Lautrec. ( 29797092 )
2018
3
Traumatic cervical spine injuries in a patient with pycnodysostosis. ( 29480369 )
2018
4
Pycnodysostosis: Novel Variants in<i>CTSK</i>and Occurrence of Giant Cell Tumor. ( 29441215 )
2018
5
Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox? ( 30394969 )
2018
6
An Update on Osteomyelitis Treatment in a Pycnodysostosis Patient. ( 30030999 )
2018
7
Short stature and bone structure abnormalities in two siblings. Pycnodysostosis (also known as osteopetrosis acro-osteolytica). ( 29687148 )
2018
8
Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T. ( 30199612 )
2018
9
Anaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery. ( 30538866 )
2018
10
Pycnodysostosis: Clinicoradiographic Report of a Rare Case. ( 28566865 )
2017
11
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes. ( 28328823 )
2017
12
Pycnodysostosis at otorhinolaryngology. ( 28576543 )
2017
13
Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report. ( 29390266 )
2017
14
Clinical and radiographic features of pycnodysostosis: A case report. ( 29167721 )
2017
15
Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems. ( 29318055 )
2017
16
Fracture Management in Pyknodysostosis - A Rare Case Report. ( 29051881 )
2017
17
Accordion Maneuver with Modified Ilizarov Frame for treatment of recalcitrant nonunion of shaft of femur in a patient with Pycnodysostosis. ( 28018070 )
2016
18
Pycnodysostosis: mutation spectrum in five unrelated Indian children. ( 27092432 )
2016
19
Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences. ( 27001692 )
2016
20
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases. ( 27562807 )
2016
21
An interesting case of pycnodysostosis /Toulouse Lautrec syndrome. ( 27727946 )
2016
22
Pycnodysostosis presenting as atypical stridor. ( 26856677 )
2016
23
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
24
Risk of difficult intubation may increase with age in pediatric patients with pycnodysostosis. ( 27059420 )
2016
25
Bilateral choanal atresia in an adult woman with pycnodysostosis. ( 27933642 )
2016
26
Short stature Revealing a Pycnodysostosis: A Case Report. ( 27703936 )
2016
27
Oral Lesions in Pycnodysostosis Syndrome: Eleven Years of Follow-Up. ( 27483107 )
2016
28
Left clavicular fracture. Pyknodysostosis. ( 26746201 )
2016
29
Pycnodysostosis with a patella fracture. ( 26143287 )
2015
30
Osteomyelitis in pycnodysostosis - report of 2 clinical cases. ( 25738091 )
2015
31
Pycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament. ( 25901243 )
2015
32
Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy. ( 26283855 )
2015
33
A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin. ( 25725806 )
2015
34
Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. ( 26649209 )
2015
35
Atypical femur fractures in a patient with pycnodysostosis: a case report. ( 26040945 )
2015
36
Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis. ( 26448892 )
2015
37
Pycnodysostosis: A rare cause of short stature. ( 26663972 )
2015
38
Papilledema from craniosynostosis in pycnodysostosis. ( 25451018 )
2015
39
Clinical and cephalometric analysis of three cases with pycnodysostosis: case reports. ( 28955526 )
2015
40
Case Report - Pyknodysostosis. ( 26155532 )
2015
41
Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis. ( 25304337 )
2014
42
Pycnodysostosis and the making of an artist. ( 25280595 )
2014
43
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. ( 24767306 )
2014
44
Pycnodysostosis: review and case report. ( 25267152 )
2014
45
A case of pycnodysostosis presented with pathological femoral shaft fracture. ( 24604056 )
2014
46
Unusual feature of pycnodysostosis: pectus carinatum. ( 24938251 )
2014
47
Current research on pycnodysostosis. ( 25364650 )
2014
48
Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review. ( 24715708 )
2014
49
Pycnodysostosis: A bone dysplasia with unusual oral manifestation. ( 25565757 )
2014
50
A patient with pycnodysostosis presenting with seizures and porencephalic cysts. ( 25002775 )
2014

Variations for Pycnodysostosis

UniProtKB/Swiss-Prot genetic disease variations for Pycnodysostosis:

75
# 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 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSK NM_000396.3(CTSK): c.990A> G (p.Ter330Trp) single nucleotide variant Pathogenic rs74315301 GRCh37 Chromosome 1, 150769275: 150769275
2 CTSK NM_000396.3(CTSK): c.990A> G (p.Ter330Trp) single nucleotide variant Pathogenic rs74315301 GRCh38 Chromosome 1, 150796799: 150796799
3 CTSK NM_000396.3(CTSK): c.436G> C (p.Gly146Arg) single nucleotide variant Pathogenic rs74315302 GRCh37 Chromosome 1, 150776679: 150776679
4 CTSK NM_000396.3(CTSK): c.436G> C (p.Gly146Arg) single nucleotide variant Pathogenic rs74315302 GRCh38 Chromosome 1, 150804203: 150804203
5 CTSK NM_000396.3(CTSK): c.721C> T (p.Arg241Ter) single nucleotide variant Likely pathogenic rs74315303 GRCh37 Chromosome 1, 150772083: 150772083
6 CTSK NM_000396.3(CTSK): c.721C> T (p.Arg241Ter) single nucleotide variant Likely pathogenic rs74315303 GRCh38 Chromosome 1, 150799607: 150799607
7 CTSK NM_000396.3(CTSK): c.830C> T (p.Ala277Val) single nucleotide variant Likely pathogenic rs74315304 GRCh37 Chromosome 1, 150771704: 150771704
8 CTSK NM_000396.3(CTSK): c.830C> T (p.Ala277Val) single nucleotide variant Likely pathogenic rs74315304 GRCh38 Chromosome 1, 150799228: 150799228
9 CTSK NM_000396.3(CTSK): c.236G> A (p.Gly79Glu) single nucleotide variant Pathogenic rs74315305 GRCh37 Chromosome 1, 150778585: 150778585
10 CTSK NM_000396.3(CTSK): c.236G> A (p.Gly79Glu) single nucleotide variant Pathogenic rs74315305 GRCh38 Chromosome 1, 150806109: 150806109
11 CTSK NM_000396.3(CTSK): c.154A> T (p.Lys52Ter) single nucleotide variant Pathogenic rs74315306 GRCh37 Chromosome 1, 150778667: 150778667
12 CTSK NM_000396.3(CTSK): c.154A> T (p.Lys52Ter) single nucleotide variant Pathogenic rs74315306 GRCh38 Chromosome 1, 150806191: 150806191
13 CTSK NM_000396.3(CTSK): c.926T> C (p.Leu309Pro) single nucleotide variant Likely pathogenic rs29001685 GRCh37 Chromosome 1, 150769339: 150769339
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.-72T> C single nucleotide variant Uncertain significance rs187955801 GRCh38 Chromosome 1, 150808284: 150808284
36 CTSK NM_000396.3(CTSK): c.890+6G> A single nucleotide variant Uncertain significance rs886045273 GRCh37 Chromosome 1, 150771638: 150771638
37 CTSK NM_000396.3(CTSK): c.890+6G> A single nucleotide variant Uncertain significance rs886045273 GRCh38 Chromosome 1, 150799162: 150799162
38 CTSK NM_000396.3(CTSK): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs774888582 GRCh37 Chromosome 1, 150776564: 150776564
39 CTSK NM_000396.3(CTSK): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs774888582 GRCh38 Chromosome 1, 150804088: 150804088
40 CTSK NM_000396.3(CTSK): c.-72T> C single nucleotide variant Uncertain significance rs187955801 GRCh37 Chromosome 1, 150780760: 150780760
41 CTSK NM_000396.3(CTSK): c.289_290delCT (p.Leu97Valfs) deletion Likely pathogenic rs773943327 GRCh37 Chromosome 1, 150778446: 150778447
42 CTSK NM_000396.3(CTSK): c.934C> T (p.Arg312Ter) single nucleotide variant Likely pathogenic rs375958814 GRCh37 Chromosome 1, 150769331: 150769331
43 CTSK NM_000396.3(CTSK): c.934C> T (p.Arg312Ter) single nucleotide variant Likely pathogenic rs375958814 GRCh38 Chromosome 1, 150796855: 150796855
44 CTSK NM_000396.3(CTSK): c.934C> G (p.Arg312Gly) single nucleotide variant Likely pathogenic rs375958814 GRCh37 Chromosome 1, 150769331: 150769331
45 CTSK NM_000396.3(CTSK): c.934C> G (p.Arg312Gly) single nucleotide variant Likely pathogenic rs375958814 GRCh38 Chromosome 1, 150796855: 150796855
46 CTSK NM_000396.3(CTSK): c.679_680insAA (p.Ile227Lysfs) insertion Likely pathogenic rs758450569 GRCh37 Chromosome 1, 150772124: 150772125
47 CTSK NM_000396.3(CTSK): c.679_680insAA (p.Ile227Lysfs) insertion Likely pathogenic rs758450569 GRCh38 Chromosome 1, 150799648: 150799649
48 CTSK NM_000396.3(CTSK): c.648delC (p.Lys217Argfs) deletion Likely pathogenic rs1057516891 GRCh37 Chromosome 1, 150772156: 150772156
49 CTSK NM_000396.3(CTSK): c.648delC (p.Lys217Argfs) deletion Likely pathogenic rs1057516891 GRCh38 Chromosome 1, 150799680: 150799680
50 CTSK NM_000396.3(CTSK): c.568C> T (p.Gln190Ter) single nucleotide variant Likely pathogenic rs202040269 GRCh37 Chromosome 1, 150776547: 150776547

Expression for Pycnodysostosis

Search GEO for disease gene expression data for Pycnodysostosis.

Pathways for Pycnodysostosis

Pathways related to Pycnodysostosis according to KEGG:

37
# 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
Show member pathways
10.56 IL6R MITF

GO Terms for Pycnodysostosis

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.8 ATP6V0D2 IL6R SLC26A2

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.13 ATP6V0D2 CLCN7 SLC26A2
2 chloride transmembrane transport GO:1902476 8.62 CLCN7 SLC26A2

Sources for Pycnodysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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