MCID: CRN246
MIFTS: 23

Cranioosteoarthropathy malady

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

Aliases & Classifications for Cranioosteoarthropathy

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Cranioosteoarthropathy:

Name: Cranioosteoarthropathy 46 9 61
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 46
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 46
Currarino Idiopathic Osteoarthropathy 48
Reginato-Schiapachasse Syndrome 48
 
Reginato Schiapachasse Syndrome 61
Cranio Osteoarthropathy 42
Cranio-Osteoarthropathy 48
Currarino Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM46 259100
Orphanet48 1525
ICD10 via Orphanet26 M89.4
UMLS via Orphanet62 C2930922

Summaries for Cranioosteoarthropathy

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OMIM:46 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.

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:

 48 (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:

31
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:

63
id Symbol AA change Variation ID SNP ID
1HPGDp.Ala140ProVAR_046209

Clinvar genetic disease variations for Cranioosteoarthropathy:

5
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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Sources for Cranioosteoarthropathy

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet