MCID: CRN246
MIFTS: 33

Cranioosteoarthropathy

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

Aliases & Classifications for Cranioosteoarthropathy

MalaCards integrated aliases for Cranioosteoarthropathy:

Name: Cranioosteoarthropathy 54 71 13 69
Touraine-Solente-Gole Syndrome 24 71
Phoar1 24 71
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 71
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 54
Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 1 24
Pachydermoperiostosis, Autosomal Recessive 24
Pachydermoperiostosis Autosomal Recessive 71
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 71
Pho Autosomal Recessive 71
Currarino Disease 56
Coa 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
males are more severely affected than females
exacerbation at puberty
male to female ratio of 7:1


HPO:

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


Classifications:



Summaries for Cranioosteoarthropathy

OMIM : 54
Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. (259100)

MalaCards based summary : Cranioosteoarthropathy, also known as touraine-solente-gole syndrome, is related to succinyl coa:3-oxoacid coa transferase deficiency and peroxisomal acyl-coa oxidase deficiency, and has symptoms including mottled pigmentation, large fontanelles and arthritis. An important gene associated with Cranioosteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include heart, bone and skin.

UniProtKB/Swiss-Prot : 71 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 288)
id Related Disease Score Top Affiliating Genes
1 succinyl coa:3-oxoacid coa transferase deficiency 12.4
2 peroxisomal acyl-coa oxidase deficiency 12.3
3 malonyl-coa decarboxylase deficiency 12.2
4 hmg-coa lyase 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 12.0
12 acyl-coa dehydrogenase, medium chain, deficiency of 12.0
13 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 12.0
14 2,4-dienoyl-coa reductase deficiency 12.0
15 hmg-coa synthase-2 deficiency 12.0
16 methylmalonyl-coa epimerase deficiency 12.0
17 3-methylcrotonyl-coa carboxylase 1 deficiency 12.0
18 peroxisomal fatty acyl-coa reductase 1 disorder 12.0
19 succinate-coa ligase deficiency 11.9
20 3-methylcrotonyl-coa carboxylase 2 deficiency 11.9
21 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.9
22 vlcad deficiency 11.9
23 2-methylbutyrylglycinuria 11.9
24 lchad deficiency 11.8
25 3-methylglutaconic aciduria, type i 11.8
26 2-methylacetoacetyl coa thiolase deficiency 11.7
27 isovaleric acidemia 11.7
28 acetyl coa acetyltransferase 2 deficiency 11.7
29 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.6
30 hmg coa synthetase deficiency 11.6
31 medium-chain 3-ketoacyl-coa thiolase deficiency 11.6
32 mccc1-related 3-methylcrotonyl-coa carboxylase deficiency 11.6
33 transient neonatal multiple acyl-coa dehydrogenase deficiency 11.6
34 mccc2-related 3-methylcrotonyl-coa carboxylase deficiency 11.6
35 multiple acyl-coa dehydrogenase deficiency, mild type 11.6
36 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 11.6
37 3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency 11.6
38 3 alpha methylcrotonyl-coa carboxylase 2 deficiency 11.6
39 acetyl-coa carboxylase-beta deficiency 11.6
40 bile acid coa ligase deficiency and defective amidation 11.6
41 propionicacidemia 11.6
42 glutaric acidemia iic 11.5
43 mitochondrial complex i deficiency due to acad9 deficiency 11.5
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 trifunctional protein deficiency 11.3
50 d-bifunctional protein deficiency 11.2

Graphical network of the top 20 diseases related to Cranioosteoarthropathy:



Diseases related to Cranioosteoarthropathy

Symptoms & Phenotypes for Cranioosteoarthropathy

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate

Head And Neck- Face:
coarse facial features
furrowing of the forehead
prominent facial folds

Cardiovascular- Vascular:
patent ductus arteriosus

Skeletal- Limbs:
acroosteolysis
periosteal bone formation
subperiosteal ossification
expanded diaphyses
expanded metaphyses
more
Skeletal- Feet:
digital clubbing
enlargement of the feet

Skin Nails & Hair- Skin:
hyperhidrosis
eczema
redundant skin
pachydermia
thickened, furrowed skin
more
Growth- Other:
marfanoid habitus

Head And Neck- Eyes:
ptosis
thickened eyelids

Skeletal- Skull:
wormian bones
thickened calvarium
delayed closure of the fontanels

Skeletal:
osteoporosis
osteopenia
arthritis
arthralgia
swollen joints
more
Skin Nails & Hair- Nails:
digital clubbing
turtle-backed nails

Skeletal- Hands:
digital clubbing
enlargement of the hands

Chest- Ribs Sternum Clavicles And Scapulae:
long clavicles

Laboratory- Abnormalities:
increased urinary prostaglandin e2


Clinical features from OMIM:

259100

Human phenotypes related to Cranioosteoarthropathy:

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mottled pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001070
2 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
3 arthritis 56 32 frequent (33%) Frequent (79-30%) HP:0001369
4 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
5 osteoarthritis 56 32 frequent (33%) Frequent (79-30%) HP:0002758
6 eczema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000964
7 arthralgia 56 32 frequent (33%) Frequent (79-30%) HP:0002829
8 joint swelling 56 32 frequent (33%) Frequent (79-30%) HP:0001386
9 clubbing of toes 56 32 frequent (33%) Frequent (79-30%) HP:0100760
10 abnormal cortical bone morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0003103
11 deviation of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004097
12 abnormality of the knee 56 32 frequent (33%) Frequent (79-30%) HP:0002815
13 ptosis 32 HP:0000508
14 coarse facial features 32 HP:0000280
15 wormian bones 32 HP:0002645
16 patent ductus arteriosus 32 HP:0001643
17 osteoporosis 32 HP:0000939
18 pectus excavatum 32 HP:0000767
19 osteopenia 32 HP:0000938
20 arthropathy 32 HP:0003040
21 eczematoid dermatitis 32 HP:0000976
22 high palate 32 HP:0000218
23 hyperhidrosis 32 HP:0000975
24 long clavicles 32 HP:0000890
25 redundant skin 32 HP:0001582
26 seborrheic dermatitis 32 HP:0001051
27 palmoplantar hyperkeratosis 32 HP:0000972
28 clubbing 32 HP:0001217
29 thickened calvaria 32 HP:0002684
30 limitation of joint mobility 32 HP:0001376
31 abnormality of the skull 56 Very frequent (99-80%)
32 disproportionate tall stature 32 HP:0001519
33 abnormality of the tibia 56 Frequent (79-30%)
34 osteolytic defects of the phalanges of the hand 32 HP:0009771
35 abnormality of tibia morphology 32 frequent (33%) HP:0002992

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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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