COA
MCID: CRN246
MIFTS: 31

Cranioosteoarthropathy (COA) malady

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

Aliases & Classifications for Cranioosteoarthropathy

Aliases & Descriptions for Cranioosteoarthropathy:

Name: Cranioosteoarthropathy 54 66 13 69
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 54 66
Touraine-Solente-Gole Syndrome 24 66
Phoar1 24 66
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 54
Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 1 24
Pachydermoperiostosis, Autosomal Recessive 24
Pachydermoperiostosis Autosomal Recessive 66
Osteoarthropathy, Primary Hypertrophic 69
Currarino Idiopathic Osteoarthropathy 56
Reginato-Schiapachasse Syndrome 56
Reginato Schiapachasse Syndrome 69
Cranio Osteoarthropathy 50
Cranio-Osteoarthropathy 56
Pdp Autosomal Recessive 66
Pho Autosomal Recessive 66
Currarino Disease 56
Coa 66

Characteristics:

Orphanet epidemiological data:

56
cranio-osteoarthropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
cranioosteoarthropathy:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 259100
Orphanet 56 ORPHA1525
ICD10 via Orphanet 34 M89.4
UMLS via Orphanet 70 C2930922
MeSH 42 D010004

Summaries for Cranioosteoarthropathy

OMIM : 54 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, joint swelling and joint stiffness. An important gene associated with Cranioosteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include heart, bone and skin.

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 295)
id Related Disease Score Top Affiliating Genes
1 succinyl coa:3-oxoacid coa transferase deficiency 12.4
2 hmg-coa lyase deficiency 12.2
3 peroxisomal acyl-coa oxidase deficiency 12.2
4 malonyl-coa decarboxylase deficiency 12.2
5 3-methylcrotonyl-coa carboxylase deficiency 12.2
6 isobutyryl-coa dehydrogenase deficiency 12.2
7 3-hydroxyacyl-coa dehydrogenase deficiency 12.1
8 alpha-methylacyl-coa racemase deficiency 12.1
9 acyl-coa dehydrogenase, short-chain, deficiency of 12.1
10 3-hydroxyisobutryl-coa hydrolase deficiency 12.1
11 acetyl-coa carboxylase deficiency 12.1
12 acyl-coa dehydrogenase, medium chain, deficiency of 12.0
13 hmg-coa synthase-2 deficiency 12.0
14 2,4-dienoyl-coa reductase deficiency 12.0
15 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 12.0
16 methylmalonyl-coa epimerase deficiency 12.0
17 3-methylcrotonyl-coa carboxylase 1 deficiency 12.0
18 succinate-coa ligase deficiency 12.0
19 peroxisomal fatty acyl-coa reductase 1 disorder 12.0
20 3-methylcrotonyl-coa carboxylase 2 deficiency 12.0
21 vlcad deficiency 11.9
22 2-methylbutyrylglycinuria 11.9
23 lchad deficiency 11.8
24 2-methylacetoacetyl coa thiolase deficiency 11.8
25 isovaleric acidemia 11.7
26 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.7
27 acetyl coa acetyltransferase 2 deficiency 11.7
28 3-methylglutaconic aciduria, type i 11.7
29 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.7
30 medium-chain 3-ketoacyl-coa thiolase deficiency 11.7
31 hmg coa synthetase deficiency 11.6
32 3 alpha methylcrotonyl-coa carboxylase 2 deficiency 11.6
33 multiple acyl-coa dehydrogenation deficiency, mild type 11.6
34 multiple acyl-coa dehydrogenation deficiency, severe neonatal type 11.6
35 acetyl-coa carboxylase-beta deficiency 11.6
36 bile acid coa ligase deficiency and defective amidation 11.6
37 mccc1-related 3-methylcrotonyl-coa carboxylase deficiency 11.6
38 mccc2-related 3-methylcrotonyl-coa carboxylase deficiency 11.6
39 transient neonatal multiple acyl-coa dehydrogenase deficiency 11.6
40 propionicacidemia 11.6
41 glutaric acidemia iic 11.6
42 mitochondrial complex i deficiency due to acad9 deficiency 11.5
43 17-beta-hydroxysteroid dehydrogenase x deficiency 11.4
44 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.4
45 glutaric aciduria iii 11.4
46 primary hypertrophic osteoarthropathy 11.4
47 methylmalonic aciduria and homocystinuria, cblc type 11.3
48 mucopolysaccharidosis type iiic 11.3
49 d-bifunctional protein deficiency 11.2
50 ketothiolase deficiency 11.1

Graphical network of the top 20 diseases related to Cranioosteoarthropathy:



Diseases related to Cranioosteoarthropathy

Symptoms & Phenotypes for Cranioosteoarthropathy

Symptoms by clinical synopsis from OMIM:

259100

Clinical features from OMIM:

259100

Human phenotypes related to Cranioosteoarthropathy:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 joint swelling 56 32 Frequent (79-30%) HP:0001386
3 joint stiffness 56 32 Frequent (79-30%) HP:0001387
4 osteoarthritis 56 32 Frequent (79-30%) HP:0002758
5 arthritis 56 32 Frequent (79-30%) HP:0001369
6 abnormal cortical bone morphology 56 32 Very frequent (99-80%) HP:0003103
7 eczema 56 32 Occasional (29-5%) HP:0000964
8 clubbing of toes 56 32 Frequent (79-30%) HP:0100760
9 large fontanelles 56 32 Very frequent (99-80%) HP:0000239
10 deviation of finger 56 32 Occasional (29-5%) HP:0004097
11 abnormality of the tibia 56 32 Frequent (79-30%) HP:0002992
12 abnormality of the knee 56 32 Frequent (79-30%) HP:0002815
13 mottled pigmentation 56 32 Very frequent (99-80%) HP:0001070
14 clubbing 32 HP:0001217
15 pectus excavatum 32 HP:0000767
16 high palate 32 HP:0000218
17 ptosis 32 HP:0000508
18 osteopenia 32 HP:0000938
19 hyperhidrosis 32 HP:0000975
20 coarse facial features 32 HP:0000280
21 thickened calvaria 32 HP:0002684
22 osteoporosis 32 HP:0000939
23 patent ductus arteriosus 32 HP:0001643
24 limitation of joint mobility 32 HP:0001376
25 wormian bones 32 HP:0002645
26 abnormality of the skull 56 Very frequent (99-80%)
27 disproportionate tall stature 32 HP:0001519
28 seborrheic dermatitis 32 HP:0001051
29 redundant skin 32 HP:0001582
30 palmoplantar hyperkeratosis 32 HP:0000972
31 arthropathy 32 HP:0003040
32 osteolytic defects of the phalanges of the hand 32 HP:0009771
33 eczematoid dermatitis 32 HP:0000976
34 long clavicles 32 HP:0000890

UMLS symptoms related to Cranioosteoarthropathy:


arthralgia, flushing, metatarsalgia, joint swelling

Drugs & Therapeutics for Cranioosteoarthropathy

Search Clinical Trials , NIH Clinical Center for Cranioosteoarthropathy

Genetic Tests for Cranioosteoarthropathy

Genetic tests related to Cranioosteoarthropathy:

id Genetic test Affiliating Genes
1 Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 1 24 HPGD

Anatomical Context for Cranioosteoarthropathy

MalaCards organs/tissues related to Cranioosteoarthropathy:

39
Heart, Bone, Skin

Publications for Cranioosteoarthropathy

Articles related to Cranioosteoarthropathy:

id Title Authors Year
1
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. ( 19568269 )
2009

Variations for Cranioosteoarthropathy

UniProtKB/Swiss-Prot genetic disease variations for Cranioosteoarthropathy:

66
id Symbol AA change Variation ID SNP ID
1 HPGD p.Ala140Pro VAR_046209 rs121434480

ClinVar genetic disease variations for Cranioosteoarthropathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HPGD NM_000860.5(HPGD): c.418G> C (p.Ala140Pro) single nucleotide variant Pathogenic rs121434480 GRCh37 Chromosome 4, 175429850: 175429850
2 HPGD NM_000860.5(HPGD): c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs) indel Pathogenic rs587776676 GRCh38 Chromosome 4, 174518054: 174518063
3 HPGD NM_000860.5(HPGD): c.175_176delCT (p.Leu59Valfs) deletion Pathogenic rs548208942 GRCh37 Chromosome 4, 175443136: 175443137
4 HPGD NM_000860.5(HPGD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs577045722 GRCh38 Chromosome 4, 174522451: 174522451
5 HPGD NM_000860.5(HPGD): c.310_311delCT (p.Leu104Alafs) deletion Pathogenic rs587777719 GRCh37 Chromosome 4, 175439135: 175439136

Expression for Cranioosteoarthropathy

Search GEO for disease gene expression data for Cranioosteoarthropathy.

Pathways for Cranioosteoarthropathy

GO Terms for Cranioosteoarthropathy

Sources for Cranioosteoarthropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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