MCID: ANN018
MIFTS: 18

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 53
Total Anonychia Congenita and Microcephaly 49
Anonychia Total with Microcephaly 49
Total Anonychia with Microcephaly 49
Anonychia-Microcephaly Syndrome 55
Teebi Kaurah Syndrome 69
Teebi-Kaurah Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
anonychia-microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

OMIM 53 607214
Orphanet 55 ORPHA1094
MESH via Orphanet 42 C536948
UMLS via Orphanet 70 C2931373
ICD10 via Orphanet 33 Q87.8
SNOMED-CT via HPO 65 271611007 80967001 23610003
UMLS 69 C2931373

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 nail disorder, nonsyndromic congenital, 4, and has symptoms including carious teeth, microcephaly and clinodactyly of the 5th finger.

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:

# Related Disease Score Top Affiliating Genes
1 teebi kaurah syndrome 11.7
2 nail disorder, nonsyndromic congenital, 4 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:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
2 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
3 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
4 bilateral single transverse palmar creases 55 31 frequent (33%) Frequent (79-30%) HP:0007598
5 anonychia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001798
6 sloping forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0000340
7 aplastic/hypoplastic toenail 55 31 hallmark (90%) Very frequent (99-80%) HP:0010624
8 abnormality of the dentition 55 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

Articles related to Anonychia, Total, with Microcephaly:

# Title Authors Year
1
Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome? ( 8985482 )
1996

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....