MCID: ALB022
MIFTS: 16

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 53
Microcephaly-Albinism-Digital Anomalies Syndrome 53 49 55
Castro Gago-Pombo-Novo Syndrome 49 55
Albinism-Microcephaly Digital Anomalies Syndrome 49
Microcephaly Albinism Digital Anomalies Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
microcephaly-albinism-digital anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 53 203340
Orphanet 55 ORPHA2513
MESH via Orphanet 42 C537322
UMLS via Orphanet 70 C1859910
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1859910
UMLS 69 C1859910

Summaries for Albinism-Microcephaly-Digital Anomalies Syndrome

NIH Rare Diseases : 49 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 microcephaly, micrognathia and short distal phalanx of finger. Affiliated tissues include skin.

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:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
4 iris hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007730
5 hypopigmentation of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0001010
6 aplasia/hypoplasia of the distal phalanges of the toes 55 31 hallmark (90%) Very frequent (99-80%) HP:0010185
7 pschomotor retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0025356
8 albinism 31 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

MalaCards organs/tissues related to Albinism-Microcephaly-Digital Anomalies Syndrome:

38
Skin

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
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
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