ANIC
MCID: ANS017
MIFTS: 21

Anosmia, Isolated Congenital (ANIC)

Categories: Rare diseases, Smell/Taste diseases

Aliases & Classifications for Anosmia, Isolated Congenital

MalaCards integrated aliases for Anosmia, Isolated Congenital:

Name: Anosmia, Isolated Congenital 57 13
Isolated Congenital Anosmia 53 59
Anic 57 53
Anosmia, Congenital 57
Congenital Anosmia 53

Characteristics:

Orphanet epidemiological data:

59
isolated congenital anosmia
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
anosmia, isolated congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 107200
Orphanet 59 ORPHA88620
ICD10 via Orphanet 34 Q07.8
UMLS via Orphanet 74 C0393778
MedGen 42 C0393778
SNOMED-CT via HPO 69 263681008 44169009

Summaries for Anosmia, Isolated Congenital

NIH Rare Diseases : 53 Congenital anosmia is a condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome or congenital insensitivity to pain). Isolated congenital anosmia is usually sporadic, although some familial cases have been reported. In most cases of isolated congenital anosmia, the genetic cause in unknown. Unfortunately, there is currently no cure or treatment for congenital anosmia.

MalaCards based summary : Anosmia, Isolated Congenital, also known as isolated congenital anosmia, is related to hypogonadotropic hypogonadism 7 with or without anosmia and anosmia. An important gene associated with Anosmia, Isolated Congenital is TENM1 (Teneurin Transmembrane Protein 1). Affiliated tissues include olfactory bulb, and related phenotypes are anosmia and Increased shRNA abundance (Z-score > 2)

Description from OMIM: 107200

Related Diseases for Anosmia, Isolated Congenital

Diseases related to Anosmia, Isolated Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 10.9
2 anosmia 9.9

Symptoms & Phenotypes for Anosmia, Isolated Congenital

Symptoms via clinical synopsis from OMIM:

57
Neuro:
congenital anosmia


Clinical features from OMIM:

107200

Human phenotypes related to Anosmia, Isolated Congenital:

32
# Description HPO Frequency HPO Source Accession
1 anosmia 32 HP:0000458

GenomeRNAi Phenotypes related to Anosmia, Isolated Congenital according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.28 CNGA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.28 CNGA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.28 CNGA2 TENM1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.28 TENM1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.28 TENM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.28 TENM1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.28 TENM1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.28 TENM1

Drugs & Therapeutics for Anosmia, Isolated Congenital

Search Clinical Trials , NIH Clinical Center for Anosmia, Isolated Congenital

Genetic Tests for Anosmia, Isolated Congenital

Anatomical Context for Anosmia, Isolated Congenital

MalaCards organs/tissues related to Anosmia, Isolated Congenital:

41
Olfactory Bulb

Publications for Anosmia, Isolated Congenital

Articles related to Anosmia, Isolated Congenital:

# Title Authors Year
1
Isolated Congenital Anosmia and CNGA2 Mutation. ( 28572688 )
2017
2
[Isolated congenital anosmia--clinical and daily life aspects of a life without a sense of smell]. ( 23184504 )
2013
3
Gray matter alteration in isolated congenital anosmia patient: a voxel-based morphometry study. ( 23765063 )
2013
4
PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency. ( 23082007 )
2013
5
Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity? ( 15150785 )
2004
6
Isolated congenital anosmia locus maps to 18p11.23-q12.2. ( 15060109 )
2004
7
Children who can't smell the coffee: isolated congenital anosmia. ( 9568760 )
1998

Variations for Anosmia, Isolated Congenital

Expression for Anosmia, Isolated Congenital

Search GEO for disease gene expression data for Anosmia, Isolated Congenital.

Pathways for Anosmia, Isolated Congenital

GO Terms for Anosmia, Isolated Congenital

Sources for Anosmia, Isolated Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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