MCID: ANN018
MIFTS: 17

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 57
Total Anonychia Congenita and Microcephaly 53
Anonychia Total with Microcephaly 53
Total Anonychia with Microcephaly 53
Anonychia-Microcephaly Syndrome 59
Teebi Kaurah Syndrome 73
Teebi-Kaurah Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
anonychia-microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

OMIM 57 607214
Orphanet 59 ORPHA1094
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 45 C536948
UMLS via Orphanet 74 C2931373
SNOMED-CT via HPO 69 271611007 80967001 23610003
UMLS 73 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. Related phenotypes are microcephaly and sloping forehead

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
2 sloping forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000340
3 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
4 anonychia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001798
5 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
6 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
7 aplastic/hypoplastic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0010624
8 abnormality of the dentition 59 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
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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