MCID: CRN246
MIFTS: 25

Cranioosteoarthropathy malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Cranioosteoarthropathy

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OMIM:47 Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy,... (259100) more...

MalaCards based summary: Cranioosteoarthropathy, is also known as hypertrophic osteoarthropathy, primary, autosomal recessive, 1, and has symptoms including abnormality of the fontanelles or cranial sutures, thickened skin and abnormal cortical bone morphology. An important gene associated with Cranioosteoarthropathy is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). Affiliated tissues include bone, heart and skin.

Aliases & Classifications for Cranioosteoarthropathy

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cranioosteoarthropathy, Aliases & Descriptions:

Name: Cranioosteoarthropathy 47 11
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 47
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 47
Currarino Idiopathic Osteoarthropathy 49
 
Reginato-Schiapachasse Syndrome 49
Cranio-Osteoarthropathy 49
Cranio Osteoarthropathy 43
Currarino Disease 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM47 259100
Orphanet49 1525
ICD10 via Orphanet28 M89.4
UMLS via Orphanet63 C2930922

Related Diseases for Cranioosteoarthropathy

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Symptoms for Cranioosteoarthropathy

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Symptoms by clinical synopsis from OMIM:

259100

Clinical features from OMIM:

259100

Symptoms:

 49 (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 36)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 thickened skin hallmark (90%) HP:0001072
3 abnormal cortical bone morphology hallmark (90%) HP:0003103
4 limitation of joint mobility typical (50%) HP:0001376
5 joint swelling typical (50%) HP:0001386
6 osteoarthritis typical (50%) HP:0002758
7 abnormality of the knees typical (50%) HP:0002815
8 arthralgia typical (50%) HP:0002829
9 abnormality of the tibia typical (50%) HP:0002992
10 clubbing of toes typical (50%) HP:0100760
11 eczema occasional (7.5%) HP:0000964
12 deviation of finger occasional (7.5%) HP:0004097
13 autosomal recessive inheritance HP:0000007
14 high palate HP:0000218
15 large fontanelles HP:0000239
16 coarse facial features HP:0000280
17 ptosis HP:0000508
18 pectus excavatum HP:0000767
19 long clavicles HP:0000890
20 osteopenia HP:0000938
21 osteoporosis HP:0000939
22 palmoplantar hyperkeratosis HP:0000972
23 hyperhidrosis HP:0000975
24 eczematoid dermatitis HP:0000976
25 seborrheic dermatitis HP:0001051
26 clubbing HP:0001217
27 arthritis HP:0001369
28 limitation of joint mobility HP:0001376
29 disproportionate tall stature HP:0001519
30 redundant skin HP:0001582
31 patent ductus arteriosus HP:0001643
32 wormian bones HP:0002645
33 thickened calvaria HP:0002684
34 arthralgia HP:0002829
35 congenital onset HP:0003577
36 osteolytic defects of the phalanges of the hand HP:0009771

Drugs & Therapeutics for Cranioosteoarthropathy

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Drug clinical trials:

Search ClinicalTrials for Cranioosteoarthropathy

Search NIH Clinical Center for Cranioosteoarthropathy

Genetic Tests for Cranioosteoarthropathy

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Anatomical Context for Cranioosteoarthropathy

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MalaCards organs/tissues related to Cranioosteoarthropathy:

33
Bone, Heart, Skin

Animal Models for Cranioosteoarthropathy or affiliated genes

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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:

64
id Symbol AA change Variation ID SNP ID
1HPGDp.Ala140ProVAR_046209

Clinvar genetic disease variations for Cranioosteoarthropathy:

7
id Gene Variation Type Significance SNP ID Assembly Location
1HPGDHPGD, 10-BP DEL/2-BP INS, NT232indelPathogenic
2HPGDHPGD, 2-BP DEL, 175CTdeletionPathogenic

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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Compounds for genes affiliated with Cranioosteoarthropathy

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GO Terms for genes affiliated with Cranioosteoarthropathy

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Products for genes affiliated with Cranioosteoarthropathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cranioosteoarthropathy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet