MCID: ANN018
MIFTS: 15

Anonychia, Total, with Microcephaly

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Anonychia, Total, with Microcephaly

MalaCards integrated aliases for Anonychia, Total, with Microcephaly:

Name: Anonychia, Total, with Microcephaly 54
Total Anonychia Congenita and Microcephaly 50
Anonychia Total with Microcephaly 50
Total Anonychia with Microcephaly 50
Anonychia-Microcephaly Syndrome 56
Teebi Kaurah Syndrome 69
Teebi-Kaurah Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
anonychia-microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

OMIM 54 607214
Orphanet 56 ORPHA1094
MESH via Orphanet 43 C536948
UMLS via Orphanet 70 C2931373
ICD10 via Orphanet 34 Q87.8
SNOMED-CT via HPO 65 271611007 80967001 23610003

Summaries for Anonychia, Total, with Microcephaly

MalaCards based summary : Anonychia, Total, with Microcephaly, also known as total anonychia congenita and microcephaly, is related to teebi kaurah syndrome and anonychia congenita, and has symptoms including microcephaly, sloping forehead and anonychia.

Description from OMIM: 607214

Related Diseases for Anonychia, Total, with Microcephaly

Diseases related to Anonychia, Total, with Microcephaly via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 teebi kaurah syndrome 11.2
2 anonychia congenita 10.1
3 microcephaly 10.1

Symptoms & Phenotypes for Anonychia, Total, with Microcephaly

Clinical features from OMIM:

607214

Human phenotypes related to Anonychia, Total, with Microcephaly:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
2 sloping forehead 56 32 occasional (7.5%) Occasional (29-5%) HP:0000340
3 anonychia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001798
4 carious teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000670
5 bilateral single transverse palmar creases 56 32 frequent (33%) Frequent (79-30%) HP:0007598
6 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
7 aplastic/hypoplastic toenail 56 32 hallmark (90%) Very frequent (99-80%) HP:0010624
8 abnormality of the teeth 56 Frequent (79-30%)

Drugs & Therapeutics for Anonychia, Total, with Microcephaly

Search Clinical Trials , NIH Clinical Center for Anonychia, Total, with Microcephaly

Genetic Tests for Anonychia, Total, with Microcephaly

Anatomical Context for Anonychia, Total, with Microcephaly

Publications for Anonychia, Total, with Microcephaly

Variations for Anonychia, Total, with Microcephaly

Expression for Anonychia, Total, with Microcephaly

Search GEO for disease gene expression data for Anonychia, Total, with Microcephaly.

Pathways for Anonychia, Total, with Microcephaly

GO Terms for Anonychia, Total, with Microcephaly

Sources for Anonychia, Total, with Microcephaly

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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