Cranioosteoarthropathy (COA) malady

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

Aliases & Classifications for Cranioosteoarthropathy

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Aliases & Descriptions for Cranioosteoarthropathy:

Name: Cranioosteoarthropathy 52 70 12 68
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 52 70
Touraine-Solente-Gole Syndrome 24 70
Phoar1 24 70
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 52
Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 1 24
Pachydermoperiostosis, Autosomal Recessive 24
Pachydermoperiostosis Autosomal Recessive 70
Osteoarthropathy, Primary Hypertrophic 68
Currarino Idiopathic Osteoarthropathy 54
Reginato Schiapachasse Syndrome 68
Reginato-Schiapachasse Syndrome 54
Cranio Osteoarthropathy 48
Pdp Autosomal Recessive 70
Cranio-Osteoarthropathy 54
Pho Autosomal Recessive 70
Currarino Disease 54
Coa 70


Orphanet epidemiological data:

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


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


External Ids:

OMIM52 259100
Orphanet54 ORPHA1525
ICD10 via Orphanet31 M89.4
UMLS via Orphanet69 C2930922
MeSH39 D010004

Summaries for Cranioosteoarthropathy

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OMIM:52 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 arthralgia, flushing and metatarsalgia. An important gene associated with Cranioosteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include heart, bone and skin.

UniProtKB/Swiss-Prot:70 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 295)
idRelated DiseaseScoreTop Affiliating Genes
1succinyl coa:3-oxoacid coa transferase deficiency12.4
2hmg-coa lyase deficiency12.2
3peroxisomal acyl-coa oxidase deficiency12.2
4malonyl-coa decarboxylase deficiency12.2
53-methylcrotonyl-coa carboxylase deficiency12.2
6isobutyryl-coa dehydrogenase deficiency12.2
73-hydroxyacyl-coa dehydrogenase deficiency12.1
8alpha-methylacyl-coa racemase deficiency12.1
9acyl-coa dehydrogenase, short-chain, deficiency of12.1
103-hydroxyisobutryl-coa hydrolase deficiency12.1
11acetyl-coa carboxylase deficiency12.1
12acyl-coa dehydrogenase, medium chain, deficiency of12.0
13hmg-coa synthase-2 deficiency12.0
142,4-dienoyl-coa reductase deficiency12.0
15mitochondrial short-chain enoyl-coa hydratase 1 deficiency12.0
16methylmalonyl-coa epimerase deficiency12.0
173-methylcrotonyl-coa carboxylase 1 deficiency12.0
18succinate-coa ligase deficiency12.0
19peroxisomal fatty acyl-coa reductase 1 disorder12.0
203-methylcrotonyl-coa carboxylase 2 deficiency12.0
21vlcad deficiency11.9
23lchad deficiency11.8
242-methylacetoacetyl coa thiolase deficiency11.8
25isovaleric acidemia11.7
263-alpha hydroxyacyl-coa dehydrogenase deficiency11.7
27acetyl coa acetyltransferase 2 deficiency11.7
283-methylglutaconic aciduria, type i11.7
29medium-chain 3-ketoacyl-coa thiolase deficiency11.7
30hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency11.7
313 alpha methylcrotonyl-coa carboxylase 2 deficiency11.6
32hmg coa synthetase deficiency11.6
33acetyl-coa carboxylase-beta deficiency11.6
34mccc1-related 3-methylcrotonyl-coa carboxylase deficiency11.6
35mccc2-related 3-methylcrotonyl-coa carboxylase deficiency11.6
36bile acid coa ligase deficiency and defective amidation11.6
37transient neonatal multiple acyl-coa dehydrogenase deficiency11.6
38multiple acyl-coa dehydrogenation deficiency, mild type11.6
39multiple acyl-coa dehydrogenation deficiency, severe neonatal type11.6
41glutaric acidemia iic11.6
42mitochondrial complex i deficiency due to acad9 deficiency11.5
4317-beta-hydroxysteroid dehydrogenase x deficiency11.4
44medium-chain acyl-coenzyme a dehydrogenase deficiency11.4
45glutaric aciduria iii11.4
46primary hypertrophic osteoarthropathy11.4
47methylmalonic aciduria and homocystinuria, cblc type11.3
48mucopolysaccharidosis type iiic11.3
49d-bifunctional protein deficiency11.2
50ketothiolase deficiency11.1

Graphical network of the top 20 diseases related to Cranioosteoarthropathy:

Diseases related to cranioosteoarthropathy

Symptoms & Phenotypes for Cranioosteoarthropathy

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Cranioosteoarthropathy:

 54 64 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 large fontanelles64 54 Very frequent (99-80%) HP:0000239
2 abnormality of the skull54 Very frequent (99-80%)
3 eczema64 54 Occasional (29-5%) HP:0000964
4 mottled pigmentation64 54 Very frequent (99-80%) HP:0001070
5 arthritis64 54 Frequent (79-30%) HP:0001369
6 joint swelling64 54 Frequent (79-30%) HP:0001386
7 joint stiffness64 54 Frequent (79-30%) HP:0001387
8 osteoarthritis64 54 Frequent (79-30%) HP:0002758
9 abnormality of the knee64 54 Frequent (79-30%) HP:0002815
10 arthralgia64 54 Frequent (79-30%) HP:0002829
11 abnormality of the tibia64 54 Frequent (79-30%) HP:0002992
12 abnormal cortical bone morphology64 54 Very frequent (99-80%) HP:0003103
13 deviation of finger64 54 Occasional (29-5%) HP:0004097
14 clubbing of toes64 54 Frequent (79-30%) HP:0100760
15 high palate64 HP:0000218
16 coarse facial features64 HP:0000280
17 ptosis64 HP:0000508
18 pectus excavatum64 HP:0000767
19 long clavicles64 HP:0000890
20 osteopenia64 HP:0000938
21 osteoporosis64 HP:0000939
22 palmoplantar hyperkeratosis64 HP:0000972
23 hyperhidrosis64 HP:0000975
24 eczematoid dermatitis64 HP:0000976
25 seborrheic dermatitis64 HP:0001051
26 clubbing64 HP:0001217
27 limitation of joint mobility64 HP:0001376
28 disproportionate tall stature64 HP:0001519
29 redundant skin64 HP:0001582
30 patent ductus arteriosus64 HP:0001643
31 wormian bones64 HP:0002645
32 thickened calvaria64 HP:0002684
33 arthropathy64 HP:0003040
34 osteolytic defects of the phalanges of the hand64 HP:0009771

UMLS symptoms related to Cranioosteoarthropathy:

arthralgia, flushing, metatarsalgia, 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 124 HPGD

Anatomical Context for Cranioosteoarthropathy

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MalaCards organs/tissues related to Cranioosteoarthropathy:

Heart, Bone, Skin

Publications for Cranioosteoarthropathy

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Articles related to Cranioosteoarthropathy:

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

Variations for Cranioosteoarthropathy

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UniProtKB/Swiss-Prot genetic disease variations for Cranioosteoarthropathy:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Cranioosteoarthropathy:

id Gene Variation Type Significance SNP ID Assembly Location
1HPGDNM_ 000860.5(HPGD): c.1A> T (p.Met1Leu)SNVPathogenicrs577045722GRCh38Chr 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)SNVPathogenicrs121434480GRCh37Chr 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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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet