ABCDS
MCID: ABC001
MIFTS: 44

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 73 72 36 29 13 6 15 70
Abcds 57 12 72
Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness 57 12
Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut and Deafness 72
Syndrome, Abcd 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
abcd syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050600
OMIM® 57 600501
KEGG 36 H00823
MeSH 44 D014849
UMLS 70 C1838099

Summaries for Abcd Syndrome

UniProtKB/Swiss-Prot : 72 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 crest syndrome and waardenburg syndrome, type 4a. 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. The drugs Methotrexate and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and skin, and related phenotypes are hearing impairment and aganglionic megacolon

Disease Ontology : 12 A syndrome 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).

KEGG : 36 ABCD syndrome is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait.

Wikipedia : 73 ABCD syndrome is the acronym for albinism, black lock of hair, cell migration disorder of the neurocytes... more...

More information 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

Human phenotypes related to Abcd Syndrome:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 aganglionic megacolon 31 HP:0002251
3 large for gestational age 31 HP:0001520
4 hypopigmentation of the fundus 31 HP:0007894
5 albinism 31 HP:0001022
6 abnormal auditory evoked potentials 31 HP:0006958

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Abcd Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 ABCA2 ABCB10 ABCB6 ABCB8 ABCC10 ABCD1

Drugs & Therapeutics for Abcd Syndrome

Drugs for Abcd Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
2
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
4
Bevacizumab Approved, Investigational Phase 2 216974-75-3
5
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
6
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
7
Voriconazole Approved Phase 2 137234-62-9 71616
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10 Folic Acid Antagonists Phase 2
11 Vitamin B9 Phase 2
12 Immunosuppressive Agents Phase 2
13 Antineoplastic Agents, Immunological Phase 2
14 Angiogenesis Inhibitors Phase 2
15 Antirheumatic Agents Phase 2
16 Immunologic Factors Phase 2
17 Alkylating Agents Phase 2
18 Vitamin B Complex Phase 2
19 Folate Phase 2
20 Antimetabolites Phase 2
21 Amebicides Phase 2
22 Protective Agents Phase 2
23 Serine Proteinase Inhibitors Phase 2
24 Antiparasitic Agents Phase 2
25
protease inhibitors Phase 2
26 Antiprotozoal Agents Phase 2
27 Liposomal amphotericin B Phase 2
28 Anti-Infective Agents Phase 2
29 Anti-Bacterial Agents Phase 2
30 Cholesteryl sulfate Phase 2
31 HIV Protease Inhibitors Phase 2
32 Antifungal Agents Phase 2
33
Serine Investigational, Nutraceutical Phase 2 56-45-1 5951
34
Ofloxacin Approved Phase 1 82419-36-1 4583
35
Rifampicin Approved Phase 1 13292-46-1 5381226 5458213
36
Pyrazinamide Approved, Investigational Phase 1 98-96-4 1046
37
Levofloxacin Approved, Investigational Phase 1 100986-85-4 149096
38
Isoniazid Approved, Investigational Phase 1 54-85-3 3767
39
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
40
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
41 Antitubercular Agents Phase 1
42 Omega 3 Fatty Acid Phase 1
43
Nicotine Approved 54-11-5 942 89594
44
Nicotinamide Approved, Investigational 98-92-0 936
45
Tocopherol Approved, Investigational 1406-66-2
46
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
47
Ethanol Approved Early Phase 1 64-17-5 702
48
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
49
Phenylpropanolamine Approved, Vet_approved, Withdrawn 14838-15-4 26934
50
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Alternans Before Cardioverter Defibrillator (ABCD) Trial Completed NCT00187291 Phase 3
2 ABCDE: A Phase II Randomized Study of Adjuvant Bevacizumab, Metronomic Chemotherapy (CM), Diet and Exercise After Preoperative Chemotherapy for Breast Cancer Unknown status NCT00925652 Phase 2 Bevacizumab;Cyclophosphamide;Methotrexate
3 An Open, Multicenter Clinical Study to Evaluate the Safety, Efficacy, and Population Pharmacokinetics of ABCD for Invasive Candidiasis and Invasive Aspergillosis Not yet recruiting NCT04225195 Phase 2 Amphotericin B cholesteryl sulfate complex for injection(ABCD)
4 Clinical Trial Phase I of Antituberculosis Dry Powder Aerosols Unknown status NCT01785927 Phase 1
5 Pronovum - An Open-label, Randomized, Single-dose Study to Evaluate the Bioavailability of Omega-3 Food Supplements in Healthy Male and Female Subjects. Completed NCT02376608 Phase 1
6 Pharmacokinetics, Safety and Tolerability of Single Infusion of Amphotericin B Colloidal Dispersion In Healthy Subjects in China Completed NCT03577509 Phase 1 ABCD
7 Prospective Study on Hemostasis Alterations in Patients Undergoing Neuro Surgical Glioma Resection Acronym: (ABCD Study: Acute Brain Coagulopathy Development Study) Unknown status NCT02652897
8 Standard Motorcycle Child Safety Helmet Initiative Program for the Safety of Child Pillion Riders in Malaysia Unknown status NCT03619473
9 Optimized Admission to the Intensive Care Unit by Using Crisis Resource Management (CRM) Unknown status NCT03268967
10 A Pharmacy Liaison-Patient Navigation Intervention to Reduce Inpatient and Emergency Department Utilization Among Primary Care Patients in a Medicaid Accountable Care Organization: A Pragmatic Trial Completed NCT03919084
11 Healthy Relationships Training Study: Comparing the Efficacy of a Mindfulness-Based Skills Training to a Psychoeducational Intervention at Reducing Dating Violence on College Campuses Completed NCT03950128
12 Awakening-Breathing Coordination, Delirium Monitoring/Management & Early Mobility (ABCDE) Protocol Completed NCT01413009
13 Bioavailability of Vitamin D in Cod Liver Oil and Multivitamin Tablets in Healthy Subjects in Norway Completed NCT01482689
14 A Multicentric Randomized Controlled Trial Comparing the Efficacy of Passive Versus Active Educational Interventions in Increasing the Ability of Laypersons in Recognizing Skin Lesions at Risk for MELAnoma Completed NCT04507048
15 Partner Assistance in Learning and Performing Skin Self-Examination Completed NCT01013844
16 Metabolomics in Beer Research: Identification of Biomarkers for Acute Intake of Beer and Alcohol in Individuals With a High or Low Habitual Intake, and Acute Effects on Plasma Glucose and Insulin Response Compared to Regular Soda Completed NCT02449577 Early Phase 1
17 The "ABCDE" Score as a Five-step Vascular Ultrasound Examination in Heart Failure:a Multi-center Study Recruiting NCT03771209
18 Whack-a-Mole: Testing an Intervention to Increase Melanoma Identification Recruiting NCT04069104
19 A Integration of Respiratory Medicine and Prevention Multi-center Study to Determine the Prevalence and Influence of Pertussis on Chronic Obstructive Pulmonary Disease Exacerbation in Shenzhen by National Respiratory Diseases Clinical Medicine Research Center Not yet recruiting NCT04694430

Search 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:

40
Small Intestine, Liver, Skin, Spinal Cord

Publications for Abcd Syndrome

Articles related to Abcd Syndrome:

(show top 50) (show all 51)
# Title Authors PMID Year
1
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. 61 57 6
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. 57 6 61
7778600 1995
3
Depigmentations of the general and oral tissues and their genetic foundations. 57
397773 1979
4
Identification and Expression Characterization of ATP-Binding Cassette (ABC) Transporter Genes in Melon Fly. 61
33806814 2021
5
Donor-Acceptor Bicyclopropyls as 1,6-Zwitterionic Intermediates: Synthesis and Reactions with 4-Phenyl-1,2,4-triazoline-3,5-dione and Terminal Acetylenes. 61
33175521 2020
6
Comment on: Coronavirus 2019 in Geriatrics and Long-Term Care: The ABCDs of COVID-19. 61
32770838 2020
7
Multiple ATP-binding cassette transporters genes are involved in thiamethoxam resistance in Aphis gossypii glover. 61
32527432 2020
8
Comparison of Mobile and Fixed-Site Black Carbon Measurements for High-Resolution Urban Pollution Mapping. 61
32525662 2020
9
Comment on: Coronavirus Disease 2019 in Geriatrics and Long-Term Care: The ABCDs of COVID-19. 61
32392616 2020
10
Comment on: Coronavirus 2019 in Geriatrics and Long-Term Care: The ABCDs of COVID-19. 61
32403159 2020
11
Coronavirus Disease 2019 in Geriatrics and Long-Term Care: The ABCDs of COVID-19. 61
32212386 2020
12
Personality neuroscience and psychopathology: should we start with biology and look for neural-level factors? 61
32524065 2020
13
The ABCDs of ResUS - Resuscitation Ultrasound. 61
31312543 2019
14
Parental Psychological Distress Moderates the Impact of a Video Intervention to Help Parents Manage Young Child Vaccination Pain. 61
30137497 2018
15
Medical Students' Knowledge, Attitudes, and Behaviors With Regard to Skin Cancer and Sun-Protective Behaviors. 61
29889933 2018
16
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. 61
29145589 2018
17
A New Black Carbon Sensor for Dense Air Quality Monitoring Networks. 61
29494528 2018
18
Genome-wide identification, phylogenetic analysis, and expression profiles of ATP-binding cassette transporter genes in the oriental fruit fly, Bactrocera dorsalis (Hendel) (Diptera: Tephritidae). 61
29121518 2018
19
Genome-wide analysis of ATP binding cassette (ABC) transporters in tomato. 61
30048467 2018
20
Electronic Information Standards to Support Obesity Prevention and Bridge Services Across Systems, 2010-2015. 61
29072985 2017
21
Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy. 61
29079071 2017
22
Quantitative ABCD parameters measured by a multispectral digital skin lesion analysis device for evaluation of suspicious pigmented skin lesions strongly correlate with clinical ABCD observations. 61
29469735 2017
23
Genome-wide analysis of ATP-binding cassette (ABC) transporters in the sweetpotato whitefly, Bemisia tabaci. 61
28446145 2017
24
Genome-Wide Identification and Expression Profiling of ATP-Binding Cassette (ABC) Transporter Gene Family in Pineapple (Ananas comosus (L.) Merr.) Reveal the Role of AcABCG38 in Pollen Development. 61
29312399 2017
25
The ABCDs of Managing Morbidly Obese Patients in Intensive Care Units. 61
27694354 2016
26
The ABCDs of Lifestyle Counseling. 61
27439176 2016
27
ABCDs of Professional Introductions: Teaching Nursing Students the Most Fundamental of All Communication Skills. 61
26402911 2016
28
Genome-Wide Identification, Characterization and Phylogenetic Analysis of ATP-Binding Cassette (ABC) Transporter Genes in Common Carp (Cyprinus carpio). 61
27058731 2016
29
Role of family D ATP-binding cassette transporters (ABCD) in cancer. 61
26517907 2015
30
Reply to: "The ABCDs of melanoma-A complicated morphologic message not intended for the general public". 61
26183999 2015
31
The ABCDs of melanoma-A complicated morphologic message not intended for the general public. 61
26183998 2015
32
Novice identification of melanoma: not quite as straightforward as the ABCDs. 61
21311845 2011
33
The evolution of melanoma diagnosis: 25 years beyond the ABCDs. 61
20671054 2010
34
How many ABCDs should we know in dermatology? 61
19873697 2009
35
ABCDs of acute stroke intervention. 61
17517269 2007
36
The peroxisomal ABC transporter family. 61
17039367 2007
37
A short screen for depression: the AB Clinician Depression Screen (ABCDS). 61
16640793 2006
38
Cutaneous melanoma: public health approach to early detection. 61
16405567 2006
39
The ABCDs of treating the most prevalent childhood disease. 61
16043665 2005
40
Cutaneous melanoma: update on prevention, screening, diagnosis, and treatment. 61
16050450 2005
41
Melanomas in prepubescent children: review comprehensively, critique historically, criteria diagnostically, and course biologically. 61
12775985 2003
42
The ABCDs of periplasmic copper trafficking. 61
12377116 2002
43
The ABC rule for clinical detection of subungual melanoma. 61
10642684 2000
44
[Epiluminescence microscopic characteristics of small malignant melanoma]. 61
9486362 1997
45
ABCDs of Melanoma. 61
8654120 1995
46
The ABCDs of melanoma: why change? 61
7896969 1995
47
The rationale of the ABCDs of early melanoma. 61
8245255 1993
48
Clinical predictors of malignant pigmented lesions. A comparison of the Glasgow seven-point checklist and the American Cancer Society's ABCDs of pigmented lesions. 61
1740563 1992
49
Changing trends in melanoma treatment and the expanding role of the dermatologist. 61
1934641 1991
50
Sunburn and other superficial burns. The ABCDs of management in the first four hours: a personal view. 61
1994202 1991

Variations for Abcd Syndrome

ClinVar genetic disease variations for Abcd Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) SNV Pathogenic 16640 rs104894391 GRCh37: 13:78477491-78477491
GRCh38: 13:77903356-77903356
2 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) SNV not provided 585146 rs77132068 GRCh37: 13:78477314-78477314
GRCh38: 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:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Neuroactive ligand-receptor interaction hsa04080
3 Melanogenesis hsa04916

Pathways related to Abcd Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 TAP2 ABCG4 ABCF1 ABCE1 ABCD4 ABCD2
2
Show member pathways
12.49 ABCG4 ABCF1 ABCE1 ABCD2 ABCD1 ABCC10
3 11.17 PXMP2 ABCD4 ABCD2 ABCD1

GO Terms for Abcd Syndrome

Cellular components related to Abcd Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.18 TAP2 PXMP2 EDNRB ABCG4 ABCD4 ABCD2
2 membrane GO:0016020 10.06 TAP2 PXMP2 EDNRB ABCG4 ABCF3 ABCF1
3 mitochondrion GO:0005739 9.93 PXMP2 ABCE1 ABCD1 ABCB8 ABCB6 ABCB10
4 lysosome GO:0005764 9.73 ABCD4 ABCD1 ABCB9 ABCA2
5 lysosomal membrane GO:0005765 9.72 ABCD4 ABCD1 ABCC10 ABCB9 ABCA2
6 peroxisome GO:0005777 9.56 PXMP2 ABCD4 ABCD2 ABCD1
7 MHC class I peptide loading complex GO:0042824 9.4 TAP2 ABCB9
8 peroxisomal membrane GO:0005778 9.26 PXMP2 ABCD4 ABCD2 ABCD1
9 ATP-binding cassette (ABC) transporter complex GO:0043190 8.92 ABCD4 ABCB8 ABCB6 ABCA2

Biological processes related to Abcd Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.55 ABCD2 ABCD1
2 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.54 TAP2 ABCB9
3 fatty acid beta-oxidation GO:0006635 9.54 ABCD4 ABCD2 ABCD1
4 very long-chain fatty acid metabolic process GO:0000038 9.52 ABCD2 ABCD1
5 negative regulation of reactive oxygen species biosynthetic process GO:1903427 9.51 ABCD2 ABCD1
6 peptide transport GO:0015833 9.49 TAP2 ABCB9
7 neuron projection maintenance GO:1990535 9.48 ABCD2 ABCD1
8 positive regulation of fatty acid beta-oxidation GO:0032000 9.46 ABCD2 ABCD1
9 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.43 TAP2 ABCB9
10 peroxisome organization GO:0007031 9.43 ABCD4 ABCD2 ABCD1
11 myelin maintenance GO:0043217 9.4 ABCD2 ABCD1
12 transmembrane transport GO:0055085 9.4 TAP2 ABCG4 ABCF1 ABCD4 ABCD2 ABCD1
13 very long-chain fatty acid catabolic process GO:0042760 9.33 ABCD4 ABCD2 ABCD1
14 positive regulation of unsaturated fatty acid biosynthetic process GO:2001280 9.32 ABCD2 ABCD1
15 peroxisomal long-chain fatty acid import GO:0015910 9.13 ABCD4 ABCD2 ABCD1

Molecular functions related to Abcd Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.1 TAP2 ABCG4 ABCF3 ABCF1 ABCE1 ABCD4
2 ATP binding GO:0005524 10 TAP2 ABCG4 ABCF3 ABCF1 ABCE1 ABCD4
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.7 TAP2 ABCG4 ABCD4 ABCD2 ABCD1 ABCC10
4 long-chain fatty acid transporter activity GO:0005324 9.5 ABCD4 ABCD2 ABCD1
5 ATPase activity GO:0016887 9.47 TAP2 ABCG4 ABCF3 ABCF1 ABCE1 ABCD4
6 MHC class I protein binding GO:0042288 9.46 TAP2 ABCB9
7 TAP1 binding GO:0046978 9.43 TAP2 ABCB9
8 peptide antigen-transporting ATPase activity GO:0015433 9.4 TAP2 ABCB9
9 peptide-transporting ATPase activity GO:0015440 9.37 TAP2 ABCB9

Sources for Abcd Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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