MCID: ABC001
MIFTS: 26

Abcd Syndrome

Categories: Genetic diseases, Gastrointestinal diseases, Neuronal diseases, Ear 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, and related phenotypes are hearing impairment and albinism

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

Diseases related to Abcd Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 melanoma 11.3
2 acral lentiginous melanoma 10.9
3 carotid stenosis 9.9
4 crest syndrome 9.7
5 albinism 9.7
6 adrenoleukodystrophy 9.7
7 stroke, ischemic 9.7
8 aspergillosis 9.7
9 keratoconus 9.7
10 q fever 9.7
11 cryptococcosis 9.7
12 blastomycosis 9.7
13 coccidioidomycosis 9.7
14 sporotrichosis 9.7
15 histoplasmosis 9.7
16 babesiosis 9.7
17 hirschsprung disease 2 9.2 EDNRB EDNRB-AS1
18 waardenburg syndrome, type 4a 9.0 EDNRB EDNRB-AS1

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
Growth:
macrosomia

Hair:
black lock at temporal occipital region

Ears:
bilateral deafness

Misc:
neonatal fatal intestinal dysfunction

Skin:
albinism

Eyes:
retinal depigmentation

GI:
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 albinism 32 HP:0001022
3 large for gestational age 32 HP:0001520
4 aganglionic megacolon 32 HP:0002251
5 abnormal auditory evoked potentials 32 HP:0006958
6 hypopigmentation of the fundus 32 HP:0007894

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

Publications for Abcd Syndrome

Articles related to Abcd Syndrome:

# Title Authors Year
1
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. ( 11891690 )
2002
2
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. ( 7778600 )
1995

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

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
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