MCID: CRN246
MIFTS: 36

Cranioosteoarthropathy malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Cranioosteoarthropathy

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Sources:
49OMIM, 11diseasecard, 65UMLS, 67UniProtKB/Swiss-Prot, 22GeneTests, 45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Cranioosteoarthropathy:

Name: Cranioosteoarthropathy 49 11 65 67
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 49 22
Phoar1 22 67
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 67
Pachydermoperiostosis, Autosomal Recessive 22
Pachydermoperiostosis Autosomal Recessive 67
Currarino Idiopathic Osteoarthropathy 51
Reginato Schiapachasse Syndrome 65
Reginato-Schiapachasse Syndrome 51
 
Touraine-Solente-Gole Syndrome 67
Touraine Solente Gole Syndrome 22
Cranio Osteoarthropathy 45
Cranio-Osteoarthropathy 51
Pho Autosomal Recessive 67
Pdp Autosomal Recessive 67
Currarino Disease 51
Coa 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM49 259100
Orphanet51 1525
ICD10 via Orphanet28 M89.4
UMLS via Orphanet66 C2930922
MeSH36 D010004

Summaries for Cranioosteoarthropathy

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OMIM:49 Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy,... (259100) more...

MalaCards based summary: Cranioosteoarthropathy, also known as hypertrophic osteoarthropathy, primary, autosomal recessive 1, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and 3-methylcrotonyl-coa carboxylase deficiency, and has symptoms including abnormality of the fontanelles or cranial sutures, abnormal cortical bone morphology and limitation of joint mobility. An important gene associated with Cranioosteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include bone, heart and skin.

UniProtKB/Swiss-Prot:67 Cranioosteoarthropathy: A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. Hypertrophic osteoarthropathy, primary, autosomal recessive, 1: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease.

Related Diseases for Cranioosteoarthropathy

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

(show top 50)    (show all 392)
idRelated DiseaseScoreTop Affiliating Genes
13-hydroxyacyl-coa dehydrogenase deficiency10.8
23-methylcrotonyl-coa carboxylase deficiency10.8
3prostatitis10.7
4succinyl coa:3-oxoacid coa transferase deficiency10.7
5prostate cancer10.7
6hmg-coa lyase deficiency10.7
7hepatitis10.6
8malonyl-coa decarboxylase deficiency10.6
9endotheliitis10.6
10lchad deficiency10.6
11primary hypertrophic osteoarthropathy10.6
12cutis verticis gyrata10.6
13acyl-coa dehydrogenase, short-chain, deficiency of10.6
14peroxisomal acyl-coa oxidase deficiency10.6
152-methylbutyryl-coa dehydrogenase deficiency10.6
16isobutyryl-coa dehydrogenase deficiency10.5
17breast cancer10.5
18vlcad deficiency10.5
19isovaleric acidemia10.5
20alpha-methylacyl-coa racemase deficiency10.5
21adenocarcinoma10.5
22obesity10.5
233-methylglutaconic aciduria, type i10.5
24atherosclerosis10.5
25myopathy10.5
26artery disease10.4
27methylmalonic acidemia10.4
28coronary artery disease10.4
293-methylcrotonyl-coa carboxylase 1 deficiency10.4
302-methylacetoacetyl coa thiolase deficiency10.4
31cardiomyopathy10.4
322,4-dienoyl-coa reductase deficiency10.4
33medium-chain acyl-coenzyme a dehydrogenase deficiency10.4
343-hydroxyisobutryl-coa hydrolase deficiency10.4
35refsum disease10.4
36adrenoleukodystrophy10.4
37hepatocellular carcinoma10.3
38glutaric acidemia iic10.3
39succinate-coa ligase deficiency10.3
40hmg-coa synthase-2 deficiency10.3
41methylmalonyl-coa epimerase deficiency10.3
423-methylcrotonyl-coa carboxylase 2 deficiency10.3
43acetyl-coa carboxylase deficiency10.3
44cerebritis10.3
453-alpha hydroxyacyl-coa dehydrogenase deficiency10.3
46tuberculosis10.3
47acetyl coa acetyltransferase 2 deficiency10.3
48myocardial infarction10.3
49acyl-coa dehydrogenase, medium chain, deficiency of10.3
50propionicacidemia10.3

Graphical network of the top 20 diseases related to Cranioosteoarthropathy:



Diseases related to cranioosteoarthropathy

Symptoms for Cranioosteoarthropathy

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Symptoms by clinical synopsis from OMIM:

259100

Clinical features from OMIM:

259100

Symptoms:

 51 (show all 16)
  • skull/cranial anomalies
  • large fontanelle/delayed fontanelle closure
  • thick skin/pachydermia/orange skin
  • bone tumefaction/swelling
  • cortical anomaly/thick bone cortical layer
  • autosomal recessive inheritance
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • knee anomalies (excluding patella)
  • terminal broadening/clubbing of toes
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • osteoarthritis
  • arthritis/synovitis/synovial proliferation
  • restricted joint mobility/joint stiffness/ankylosis
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • eczema

HPO human phenotypes related to Cranioosteoarthropathy:

(show all 35)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 abnormal cortical bone morphology hallmark (90%) HP:0003103
3 limitation of joint mobility typical (50%) HP:0001376
4 joint swelling typical (50%) HP:0001386
5 osteoarthritis typical (50%) HP:0002758
6 abnormality of the knees typical (50%) HP:0002815
7 arthralgia typical (50%) HP:0002829
8 abnormality of the tibia typical (50%) HP:0002992
9 clubbing of toes typical (50%) HP:0100760
10 deviation of finger occasional (7.5%) HP:0004097
11 autosomal recessive inheritance HP:0000007
12 high palate HP:0000218
13 large fontanelles HP:0000239
14 coarse facial features HP:0000280
15 ptosis HP:0000508
16 pectus excavatum HP:0000767
17 long clavicles HP:0000890
18 osteopenia HP:0000938
19 osteoporosis HP:0000939
20 palmoplantar hyperkeratosis HP:0000972
21 hyperhidrosis HP:0000975
22 eczematoid dermatitis HP:0000976
23 seborrheic dermatitis HP:0001051
24 clubbing HP:0001217
25 arthritis HP:0001369
26 limitation of joint mobility HP:0001376
27 disproportionate tall stature HP:0001519
28 redundant skin HP:0001582
29 patent ductus arteriosus HP:0001643
30 wormian bones HP:0002645
31 thickened calvaria HP:0002684
32 arthralgia HP:0002829
33 arthropathy HP:0003040
34 congenital onset HP:0003577
35 osteolytic defects of the phalanges of the hand HP:0009771

Drugs & Therapeutics for Cranioosteoarthropathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cranioosteoarthropathy

Genetic Tests for Cranioosteoarthropathy

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Genetic tests related to Cranioosteoarthropathy:

id Genetic test Affiliating Genes
1 Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 122 HPGD

Anatomical Context for Cranioosteoarthropathy

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MalaCards organs/tissues related to Cranioosteoarthropathy:

33
Bone, Heart, Skin

Animal Models for Cranioosteoarthropathy or affiliated genes

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Publications for Cranioosteoarthropathy

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Articles related to Cranioosteoarthropathy:

idTitleAuthorsYear
1
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. (19568269)
2009

Variations for Cranioosteoarthropathy

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UniProtKB/Swiss-Prot genetic disease variations for Cranioosteoarthropathy:

67
id Symbol AA change Variation ID SNP ID
1HPGDp.Ala140ProVAR_046209

Clinvar genetic disease variations for Cranioosteoarthropathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HPGDNM_000860.5(HPGD): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs577045722GRCh38Chr 4, 174522451: 174522451
2HPGDNM_000860.5(HPGD): c.310_311delCT (p.Leu104Alafs)deletionPathogenicrs587777719GRCh37Chr 4, 175439135: 175439136
3HPGDNM_000860.5(HPGD): c.418G> C (p.Ala140Pro)single nucleotide variantPathogenicrs121434480GRCh37Chr 4, 175429850: 175429850
4HPGDNM_000860.5(HPGD): c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs)indelPathogenicrs587776676GRCh38Chr 4, 174518054: 174518063
5HPGDNM_000860.5(HPGD): c.175_176delCT (p.Leu59Valfs)deletionPathogenicrs548208942GRCh37Chr 4, 175443136: 175443137

Expression for genes affiliated with Cranioosteoarthropathy

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Search GEO for disease gene expression data for Cranioosteoarthropathy.

Pathways for genes affiliated with Cranioosteoarthropathy

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GO Terms for genes affiliated with Cranioosteoarthropathy

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Sources for Cranioosteoarthropathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet