MCID: CRN246
MIFTS: 31

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 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 54
Reginato Schiapachasse Syndrome 68
Cranio Osteoarthropathy 48
Pdp Autosomal Recessive 70
Cranio-Osteoarthropathy 54
Pho Autosomal Recessive 70
Currarino Disease 54
Coa 70

Characteristics:

Orphanet epidemiological data:

54
currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
cranioosteoarthropathy:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



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 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: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 288)
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
10acetyl-coa carboxylase deficiency12.1
113-hydroxyisobutryl-coa hydrolase deficiency12.1
12hmg-coa synthase-2 deficiency12.0
132,4-dienoyl-coa reductase deficiency12.0
14acyl-coa dehydrogenase, medium chain, deficiency of12.0
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 deficiency11.8
22lchad deficiency11.8
232-methylbutyrylglycinuria11.8
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
40propionicacidemia11.6
41glutaric acidemia iic11.5
4217-beta-hydroxysteroid dehydrogenase x deficiency11.4
43mitochondrial complex i deficiency due to acad9 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:

259100

Clinical features from OMIM:

259100

Human phenotypes related to Cranioosteoarthropathy:

 64 54 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
2 abnormal cortical bone morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0003103
3 limitation of joint mobility64 typical (50%) HP:0001376
4 joint swelling64 54 typical (50%) Frequent (79-30%) HP:0001386
5 osteoarthritis64 54 typical (50%) Frequent (79-30%) HP:0002758
6 abnormality of the knee64 typical (50%) HP:0002815
7 arthralgia64 54 typical (50%) Frequent (79-30%) HP:0002829
8 abnormality of the tibia64 54 typical (50%) Frequent (79-30%) HP:0002992
9 clubbing of toes64 54 typical (50%) Frequent (79-30%) HP:0100760
10 deviation of finger64 54 occasional (7.5%) Occasional (29-5%) HP:0004097
11 high palate64 HP:0000218
12 large fontanelles64 54 Very frequent (99-80%) HP:0000239
13 coarse facial features64 HP:0000280
14 ptosis64 HP:0000508
15 pectus excavatum64 HP:0000767
16 long clavicles64 HP:0000890
17 osteopenia64 HP:0000938
18 osteoporosis64 HP:0000939
19 palmoplantar hyperkeratosis64 HP:0000972
20 hyperhidrosis64 HP:0000975
21 eczematoid dermatitis64 HP:0000976
22 seborrheic dermatitis64 HP:0001051
23 clubbing64 HP:0001217
24 arthritis64 54 Frequent (79-30%) HP:0001369
25 disproportionate tall stature64 HP:0001519
26 redundant skin64 HP:0001582
27 patent ductus arteriosus64 HP:0001643
28 wormian bones64 HP:0002645
29 thickened calvaria64 HP:0002684
30 arthropathy64 HP:0003040
31 osteolytic defects of the phalanges of the hand64 HP:0009771
32 abnormality of the skull54 Very frequent (99-80%)
33 eczema54 Occasional (29-5%)
34 mottled pigmentation54 Very frequent (99-80%)
35 joint stiffness54 Frequent (79-30%)
36 abnormality of the knees54 Frequent (79-30%)

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 124 HPGD

Anatomical Context for Cranioosteoarthropathy

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MalaCards organs/tissues related to Cranioosteoarthropathy:

36
Heart, Bone, Skin

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:

70
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)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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet