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 57
Microcephaly-Albinism-Digital Anomalies Syndrome 57 53 59
Castro Gago-Pombo-Novo Syndrome 53 59
Albinism-Microcephaly Digital Anomalies Syndrome 53
Microcephaly Albinism Digital Anomalies Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
microcephaly-albinism-digital anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 57 203340
Orphanet 59 ORPHA2513
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 45 C537322
UMLS via Orphanet 74 C1859910
MedGen 42 C1859910
UMLS 73 C1859910

Summaries for Albinism-Microcephaly-Digital Anomalies Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Albinism-Microcephaly-Digital Anomalies Syndrome, is also known as microcephaly-albinism-digital anomalies syndrome. Affiliated tissues include skin, and related phenotypes are microcephaly and micrognathia

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
3 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
4 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
5 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
6 aplasia/hypoplasia of the distal phalanges of the toes 59 32 hallmark (90%) Very frequent (99-80%) HP:0010185
7 pschomotor retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0025356
8 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

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

41
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
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
Content
Loading form....