ABCDS
MCID: ABC001
MIFTS: 32

Abcd Syndrome (ABCDS)

Categories: Ear diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Abcd Syndrome

MalaCards integrated aliases for Abcd Syndrome:

Name: Abcd Syndrome 57 12 76 75 37 29 13 6 15 40 73
Abcds 57 75
Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness 57
Albinism, Block Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness 12
Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut and Deafness 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
abcd syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Abcd Syndrome

UniProtKB/Swiss-Prot : 75 ABCD syndrome: An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.

MalaCards based summary : Abcd Syndrome, also known as abcds, is related to melanoma and acral lentiginous melanoma. An important gene associated with Abcd Syndrome is EDNRB (Endothelin Receptor Type B), and among its related pathways/superpathways are Calcium signaling pathway and Neuroactive ligand-receptor interaction. Affiliated tissues include small intestine, lung and skin, and related phenotypes are hearing impairment and aganglionic megacolon

Disease Ontology : 12 An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).

Wikipedia : 76 ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the... more...

Description from OMIM: 600501

Related Diseases for Abcd Syndrome

Graphical network of the top 20 diseases related to Abcd Syndrome:



Diseases related to Abcd Syndrome

Symptoms & Phenotypes for Abcd Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin:
albinism

Eyes:
retinal depigmentation

Ears:
bilateral deafness

Misc:
neonatal fatal intestinal dysfunction

Growth:
macrosomia

Hair:
black lock at temporal occipital region

G I:
defective intestinal innervation

Lab:
aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine
abnormal brainstem auditory-evoked potentials


Clinical features from OMIM:

600501

Human phenotypes related to Abcd Syndrome:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 aganglionic megacolon 32 HP:0002251
3 hypopigmentation of the fundus 32 HP:0007894
4 large for gestational age 32 HP:0001520
5 albinism 32 HP:0001022
6 abnormal auditory evoked potentials 32 HP:0006958

Drugs & Therapeutics for Abcd Syndrome

Search Clinical Trials , NIH Clinical Center for Abcd Syndrome

Genetic Tests for Abcd Syndrome

Genetic tests related to Abcd Syndrome:

# Genetic test Affiliating Genes
1 Abcd Syndrome 29 EDNRB

Anatomical Context for Abcd Syndrome

MalaCards organs/tissues related to Abcd Syndrome:

41
Small Intestine, Lung, Skin, Placenta

Publications for Abcd Syndrome

Articles related to Abcd Syndrome:

(show all 20)
# Title Authors Year
1
Featured Article: The ABCDs of Pain Management: A Double-Blind Randomized Controlled Trial Examining the Impact of a Brief Educational Video on Infants' and Toddlers' Pain Scores and Parent Soothing Behavior. ( 29145589 )
2018
2
ABCDs of Professional Introductions: Teaching Nursing Students the Most Fundamental of All Communication Skills. ( 26402911 )
2016
3
The ABCDs of Lifestyle Counseling. ( 27439176 )
2016
4
The ABCDs of Managing Morbidly Obese Patients in Intensive Care Units. ( 27694354 )
2016
5
The ABCDs of melanoma-A complicated morphologic message not intended for the general public. ( 26183998 )
2015
6
Reply to: "The ABCDs of melanoma-A complicated morphologic message not intended for the general public". ( 26183999 )
2015
7
Novice identification of melanoma: not quite as straightforward as the ABCDs. ( 21311845 )
2011
8
The evolution of melanoma diagnosis: 25 years beyond the ABCDs. ( 20671054 )
2010
9
How many ABCDs should we know in dermatology? ( 19873697 )
2009
10
ABCDs of acute stroke intervention. ( 17517269 )
2007
11
A short screen for depression: the AB Clinician Depression Screen (ABCDS). ( 16640793 )
2006
12
The ABCDs of treating the most prevalent childhood disease. ( 16043665 )
2005
13
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. ( 11891690 )
2002
14
The ABCDs of periplasmic copper trafficking. ( 12377116 )
2002
15
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. ( 7778600 )
1995
16
The ABCDs of melanoma: why change? ( 7896969 )
1995
17
ABCDs of Melanoma. ( 8654120 )
1995
18
The rationale of the ABCDs of early melanoma. ( 8245255 )
1993
19
Clinical predictors of malignant pigmented lesions. A comparison of the Glasgow seven-point checklist and the American Cancer Society's ABCDs of pigmented lesions. ( 1740563 )
1992
20
Sunburn and other superficial burns. The ABCDs of management in the first four hours: a personal view. ( 1994202 )
1991

Variations for Abcd Syndrome

ClinVar genetic disease variations for Abcd Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EDNRB NM_000115.4(EDNRB): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs104894391 GRCh37 Chromosome 13, 78477491: 78477491
2 EDNRB NM_000115.4(EDNRB): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs104894391 GRCh38 Chromosome 13, 77903356: 77903356
3 EDNRB NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe) single nucleotide variant not provided rs77132068 GRCh37 Chromosome 13, 78477314: 78477314
4 EDNRB NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe) single nucleotide variant not provided rs77132068 GRCh38 Chromosome 13, 77903179: 77903179

Expression for Abcd Syndrome

Search GEO for disease gene expression data for Abcd Syndrome.

Pathways for Abcd Syndrome

Pathways related to Abcd Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Neuroactive ligand-receptor interaction hsa04080
3 Melanogenesis hsa04916

GO Terms for Abcd Syndrome

Sources for Abcd 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....