MCID: CRN246
MIFTS: 32

Cranioosteoarthropathy malady

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

Aliases & Classifications for Cranioosteoarthropathy

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Aliases & Descriptions for Cranioosteoarthropathy:

Name: Cranioosteoarthropathy 50 68 12 66
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 50 68
Touraine-Solente-Gole Syndrome 23 68
Phoar1 23 68
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 50
Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 1 23
Pachydermoperiostosis, Autosomal Recessive 23
Pachydermoperiostosis Autosomal Recessive 68
Osteoarthropathy, Primary Hypertrophic 66
 
Currarino Idiopathic Osteoarthropathy 52
Reginato Schiapachasse Syndrome 66
Reginato-Schiapachasse Syndrome 52
Cranio Osteoarthropathy 46
Pdp Autosomal Recessive 68
Cranio-Osteoarthropathy 52
Pho Autosomal Recessive 68
Currarino Disease 52
Coa 68

Characteristics:

Orphanet epidemiological data:

52
currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
cranioosteoarthropathy:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 259100
Orphanet52 ORPHA1525
UMLS via Orphanet67 C2930922
ICD10 via Orphanet29 M89.4
MeSH37 D010004

Summaries for Cranioosteoarthropathy

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OMIM:50 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 succinyl coa:3-oxoacid coa transferase deficiency and hmg-coa lyase 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 heart, bone and skin.

UniProtKB/Swiss-Prot:68 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 316)
idRelated DiseaseScoreTop Affiliating Genes
1succinyl coa:3-oxoacid coa transferase deficiency12.4
2hmg-coa lyase deficiency12.2
3peroxisomal acyl-coa oxidase deficiency12.2
43-methylcrotonyl-coa carboxylase deficiency12.2
5malonyl-coa decarboxylase deficiency12.2
63-hydroxyacyl-coa dehydrogenase deficiency12.2
7isobutyryl-coa dehydrogenase deficiency12.2
8alpha-methylacyl-coa racemase deficiency12.1
9acyl-coa dehydrogenase, short-chain, deficiency of12.1
10acetyl-coa carboxylase deficiency12.1
11hmg-coa synthase-2 deficiency12.1
12methylmalonyl-coa epimerase deficiency12.1
133-hydroxyisobutryl-coa hydrolase deficiency12.1
142,4-dienoyl-coa reductase deficiency12.1
15acyl-coa dehydrogenase, medium chain, deficiency of12.0
163-methylcrotonyl-coa carboxylase 1 deficiency12.0
17mitochondrial short-chain enoyl-coa hydratase 1 deficiency12.0
18succinate-coa ligase deficiency12.0
193-methylcrotonyl-coa carboxylase 2 deficiency12.0
20peroxisomal fatty acyl-coa reductase 1 disorder12.0
212-methylacetoacetyl coa thiolase deficiency11.9
22acetyl coa acetyltransferase 2 deficiency11.8
233-alpha hydroxyacyl-coa dehydrogenase deficiency11.8
24medium-chain 3-ketoacyl-coa thiolase deficiency11.8
25hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency11.8
262-methylbutyrylglycinuria11.8
27hmg coa synthetase deficiency11.8
283 alpha methylcrotonyl-coa carboxylase 2 deficiency11.8
29lchad deficiency11.8
30vlcad deficiency11.7
31acetyl-coa carboxylase-beta deficiency11.7
32mccc1-related 3-methylcrotonyl-coa carboxylase deficiency11.7
33mccc2-related 3-methylcrotonyl-coa carboxylase deficiency11.7
34bile acid coa ligase deficiency and defective amidation11.7
35transient neonatal multiple acyl-coa dehydrogenase deficiency11.7
36multiple acyl-coa dehydrogenation deficiency, mild type11.7
37multiple acyl-coa dehydrogenation deficiency, severe neonatal type11.7
38isovaleric acidemia11.7
393-methylglutaconic aciduria, type i11.7
40glutaric acidemia iic11.5
41propionicacidemia11.5
42primary hypertrophic osteoarthropathy11.5
4317-beta-hydroxysteroid dehydrogenase x deficiency11.4
44mitochondrial complex i deficiency due to acad9 deficiency11.4
45medium-chain acyl-coenzyme a dehydrogenase deficiency11.4
46glutaric aciduria iii11.3
47ketothiolase deficiency11.3
48methylmalonic acidemia11.2
49mucopolysaccharidosis type iiic11.2
50alpha-methylacetoacetic aciduria11.1

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:

 52 (show all 14)
  • large fontanelles
  • abnormality of the skull
  • eczema
  • mottled pigmentation
  • arthritis
  • joint swelling
  • joint stiffness
  • osteoarthritis
  • abnormality of the knees
  • arthralgia
  • abnormality of the tibia
  • abnormal cortical bone morphology
  • deviation of finger
  • clubbing of toes

HPO human phenotypes related to Cranioosteoarthropathy:

(show all 33)
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 knee 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 high palate HP:0000218
12 large fontanelles HP:0000239
13 coarse facial features HP:0000280
14 ptosis HP:0000508
15 pectus excavatum HP:0000767
16 long clavicles HP:0000890
17 osteopenia HP:0000938
18 osteoporosis HP:0000939
19 palmoplantar hyperkeratosis HP:0000972
20 hyperhidrosis HP:0000975
21 eczematoid dermatitis HP:0000976
22 seborrheic dermatitis HP:0001051
23 clubbing HP:0001217
24 arthritis HP:0001369
25 limitation of joint mobility HP:0001376
26 disproportionate tall stature HP:0001519
27 redundant skin HP:0001582
28 patent ductus arteriosus HP:0001643
29 wormian bones HP:0002645
30 thickened calvaria HP:0002684
31 arthralgia HP:0002829
32 arthropathy HP:0003040
33 osteolytic defects of the phalanges of the hand HP:0009771

UMLS symptoms related to Cranioosteoarthropathy:


arthralgia, flushing, metatarsalgia, clubbing, joint swelling

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 123 HPGD

Anatomical Context for Cranioosteoarthropathy

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MalaCards organs/tissues related to Cranioosteoarthropathy:

34
Heart, Bone, 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:

68
id Symbol AA change Variation ID SNP ID
1HPGDp.Ala140ProVAR_046209rs121434480

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet