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


Orphanet epidemiological data:

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


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


External Ids:

OMIM49 259100
Orphanet51 1525
UMLS via Orphanet66 C2930922
ICD10 via Orphanet28 M89.4
MeSH36 D010004
UMLS65 C2678439, C2930922

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 touraine-solente-gole syndrome, is related to succinyl coa:3-oxoacid coa transferase deficiency and hmg-coa lyase deficiency, and has symptoms including abnormal cortical bone morphology, abnormality of the fontanelles or cranial sutures and clubbing of toes. An important gene associated with Cranioosteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include heart, bone 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 329)
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
62-methylbutyryl-coa dehydrogenase deficiency12.2
73-hydroxyacyl-coa dehydrogenase deficiency12.2
8isobutyryl-coa dehydrogenase deficiency12.2
9alpha-methylacyl-coa racemase deficiency12.1
10acyl-coa dehydrogenase, short-chain, deficiency of12.1
11acetyl-coa carboxylase deficiency12.1
122,4-dienoyl-coa reductase deficiency12.0
133-hydroxyisobutryl-coa hydrolase deficiency12.0
143-methylcrotonyl-coa carboxylase 1 deficiency12.0
15hmg-coa synthase-2 deficiency12.0
16methylmalonyl-coa epimerase deficiency12.0
17succinate-coa ligase deficiency12.0
183-methylcrotonyl-coa carboxylase 2 deficiency12.0
19mitochondrial short-chain enoyl-coa hydratase 1 deficiency12.0
20acyl-coa dehydrogenase, medium chain, deficiency of11.9
21peroxisomal fatty acyl-coa reductase 1 disorder11.9
222-methylacetoacetyl coa thiolase deficiency11.9
233-hydroxy-3-methylglutaryl-coa synthase deficiency11.9
243-alpha hydroxyacyl-coa dehydrogenase deficiency11.8
25acetyl coa acetyltransferase 2 deficiency11.8
26methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency11.8
27medium-chain 3-ketoacyl-coa thiolase deficiency11.8
28hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency11.8
293 alpha methylcrotonyl-coa carboxylase 2 deficiency11.7
30hmg coa synthetase deficiency11.7
313-hydroxy-3-methylglutaryl-coa synthase 2 deficiency11.7
32neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency11.7
33lchad deficiency11.7
34isovaleric acidemia11.7
35acetyl-coa carboxylase-beta deficiency11.7
36mccc1-related 3-methylcrotonyl-coa carboxylase deficiency11.7
37mccc2-related 3-methylcrotonyl-coa carboxylase deficiency11.7
38bile acid coa ligase deficiency and defective amidation11.7
39transient neonatal multiple acyl-coa dehydrogenase deficiency11.7
40multiple acyl-coa dehydrogenation deficiency, mild type11.7
41multiple acyl-coa dehydrogenation deficiency, severe neonatal type11.7
42severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-coa reductase 1 deficiency11.7
433-methylglutaconic aciduria, type i11.7
44vlcad deficiency11.6
46primary hypertrophic osteoarthropathy11.5
47glutaric acidemia iic11.5
49medium-chain acyl-coenzyme a dehydrogenase deficiency11.4
5017-beta-hydroxysteroid dehydrogenase x deficiency11.4

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:


Clinical features from OMIM:



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

UMLS symptoms related to Cranioosteoarthropathy:

joint swelling, clubbing, metatarsalgia, flushing, arthralgia

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:

Heart, Bone, Skin, Brain, Lung, Endothelial, Prostate

Animal Models for Cranioosteoarthropathy or affiliated genes

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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)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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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet