MCID: CRN192
MIFTS: 17

Craniorhiny

Categories: Bone diseases, Fetal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Craniorhiny

MalaCards integrated aliases for Craniorhiny:

Name: Craniorhiny 56 58 71

Characteristics:

Orphanet epidemiological data:

58
craniorhiny
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
craniorhiny:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 123050
ICD10 via Orphanet 33 Q30.8
UMLS via Orphanet 72 C1852501
Orphanet 58 ORPHA157832
MedGen 41 C1852501
UMLS 71 C1852501

Summaries for Craniorhiny

MalaCards based summary : Craniorhiny is related to hypertelorism and frontonasal dysplasia 1. Affiliated tissues include bone, and related phenotypes are anteverted nares and turricephaly

More information from OMIM: 123050

Related Diseases for Craniorhiny

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

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.3
2 frontonasal dysplasia 1 10.2
3 rhiny 10.2
4 cleft lip 10.2
5 bifid nose 10.2

Graphical network of the top 20 diseases related to Craniorhiny:



Diseases related to Craniorhiny

Symptoms & Phenotypes for Craniorhiny

Human phenotypes related to Craniorhiny:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 anteverted nares 31 HP:0000463
2 turricephaly 31 HP:0000262
3 craniosynostosis 31 HP:0001363
4 wide nose 31 HP:0000445
5 hirsutism 31 HP:0001007
6 oxycephaly 31 HP:0000263

Symptoms via clinical synopsis from OMIM:

56
Skull:
craniosynostosis
oxycephaly
recessed forehead
lack of nasofrontal angle

Nose:
wide nose
anteverted nostrils
nasal hirsutism
infranasal spherical cyst-like formations with fistulas

Clinical features from OMIM:

123050

Drugs & Therapeutics for Craniorhiny

Search Clinical Trials , NIH Clinical Center for Craniorhiny

Genetic Tests for Craniorhiny

Anatomical Context for Craniorhiny

MalaCards organs/tissues related to Craniorhiny:

40
Bone

Publications for Craniorhiny

Articles related to Craniorhiny:

# Title Authors PMID Year
1
An unknown syndrome of nose deformity, oxycephaly, aplasia of the nasolacrimal ducts, and symmetrical cyst formation on the upper lip in siblings: craniorhiny. 56 61
1896543 1991
2
Noses nobody knows--for real: rhiny and craniorhiny. 56 61
1897582 1991
3
Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 61
19293680 2009
4
Two siblings with an unusual nasal malformation: further instances of craniorhiny? 61
17963218 2007

Variations for Craniorhiny

Expression for Craniorhiny

Search GEO for disease gene expression data for Craniorhiny.

Pathways for Craniorhiny

GO Terms for Craniorhiny

Sources for Craniorhiny

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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