MCID: ALB022
MIFTS: 11

Albinism-Microcephaly-Digital Anomalies Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Albinism-Microcephaly-Digital Anomalies Syndrome

MalaCards integrated aliases for Albinism-Microcephaly-Digital Anomalies Syndrome:

Name: Albinism-Microcephaly-Digital Anomalies Syndrome 54
Microcephaly-Albinism-Digital Anomalies Syndrome 50 56
Castro Gago-Pombo-Novo Syndrome 50 56
Albinism-Microcephaly Digital Anomalies Syndrome 50
Microcephaly Albinism Digital Anomalies Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
microcephaly-albinism-digital anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 54 203340
Orphanet 56 ORPHA2513
MESH via Orphanet 43 C537322
UMLS via Orphanet 70 C1859910
ICD10 via Orphanet 34 Q87.8
SNOMED-CT via HPO 65 15890002 18064000

Summaries for Albinism-Microcephaly-Digital Anomalies Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2513disease definitionmicrocephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.epidemiologyit has been described in two sibs.clinical descriptionboth brother and sister had psychomotor retardation and died in the course of a respiratory infection.genetic counselingthe reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessivetrait.visit the orphanet disease page for more resources. last updated: 10/1/2010

MalaCards based summary : Albinism-Microcephaly-Digital Anomalies Syndrome, is also known as microcephaly-albinism-digital anomalies syndrome, and has symptoms including albinism

Description from OMIM: 203340

Related Diseases for Albinism-Microcephaly-Digital Anomalies Syndrome

Symptoms & Phenotypes for Albinism-Microcephaly-Digital Anomalies Syndrome

Clinical features from OMIM:

203340

Human phenotypes related to Albinism-Microcephaly-Digital Anomalies Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 albinism 32 HP:0001022

Drugs & Therapeutics for Albinism-Microcephaly-Digital Anomalies Syndrome

Search Clinical Trials , NIH Clinical Center for Albinism-Microcephaly-Digital Anomalies Syndrome

Genetic Tests for Albinism-Microcephaly-Digital Anomalies Syndrome

Anatomical Context for Albinism-Microcephaly-Digital Anomalies Syndrome

Publications for Albinism-Microcephaly-Digital Anomalies Syndrome

Variations for Albinism-Microcephaly-Digital Anomalies Syndrome

Expression for Albinism-Microcephaly-Digital Anomalies Syndrome

Search GEO for disease gene expression data for Albinism-Microcephaly-Digital Anomalies Syndrome.

Pathways for Albinism-Microcephaly-Digital Anomalies Syndrome

GO Terms for Albinism-Microcephaly-Digital Anomalies Syndrome

Sources for Albinism-Microcephaly-Digital Anomalies Syndrome

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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