MCID: ATH001
MIFTS: 31

Athabaskan Brainstem Dysgenesis Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Athabaskan Brainstem Dysgenesis Syndrome

MalaCards integrated aliases for Athabaskan Brainstem Dysgenesis Syndrome:

Name: Athabaskan Brainstem Dysgenesis Syndrome 53 12 49 55 71 13
Bosley-Salih-Alorainy Syndrome 53 55 71 28 69
Navajo Brainstem Syndrome 53 12 49 55
Athabaskan Brainstem Dysgenesis 49 28 69
Abds 53 49 71
Bsas 49 71
Athabascan Brainstem Dysgenesis Syndrome 55
Bosley Salih Alorainy Syndrome 49
Narvajo Brainstem Syndrome 71
Human Hoxa1 Syndromes 49
Absd 55

Characteristics:

Orphanet epidemiological data:

55
athabaskan brainstem dysgenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
bosley-salih-alorainy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 53 601536
Disease Ontology 12 DOID:0050682
UMLS via Orphanet 70 C1832216 C1832215
ICD10 via Orphanet 33 Q87.8
MESH via Orphanet 42 C535397
SNOMED-CT via HPO 65 60700002 103252009 430099007

Summaries for Athabaskan Brainstem Dysgenesis Syndrome

NIH Rare Diseases : 49 Athabaskan brainstem dysgenesis syndrome (ABDS) is a very rare syndrome described in about 13 Athabaskan Native Americans. The signs and symptoms include inability to move the eyeballs to the sides (horizontal gaze paralysis), deafness, and breathing and swallowing difficulty due to central hypoventilation (a condition where the affected people take shallow breaths (hypoventilate), especially during sleep). All of the the children described so far have had developmental delay and some had seizures, lack of facial movements, heart problems and vocal cord paralysis. ABDS and another condition, known as Bosley-Salih-Alorainy sindrome (BSAS), are caused by mutations in the HOXA1 gene, but only ABDS has central hypoventilation. Treatment includes supplemental oxygen or mechanical ventilation.It is possible that ABDS may be not be all that rare among Athabaskan Native Americans. Therefore, it has been suggested that all Athabaskan Native American children presenting with horizontal gaze palsies and hearing problems be evaluated for this condition. Last updated: 10/12/2016

MalaCards based summary : Athabaskan Brainstem Dysgenesis Syndrome, also known as bosley-salih-alorainy syndrome, is related to charcot-marie-tooth disease, type 4d and myopathy, distal, 4, and has symptoms including sensorineural hearing impairment, abnormality of eye movement and delayed gross motor development. An important gene associated with Athabaskan Brainstem Dysgenesis Syndrome is HOXA1 (Homeobox A1). Affiliated tissues include heart and eye.

UniProtKB/Swiss-Prot : 71 Athabaskan brainstem dysgenesis syndrome: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. Bosley-Salih-Alorainy syndrome: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation.

Description from OMIM: 601536

Related Diseases for Athabaskan Brainstem Dysgenesis Syndrome

Diseases related to Athabaskan Brainstem Dysgenesis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4d 10.9
2 myopathy, distal, 4 10.9
3 aging 10.0
4 glaucoma, primary open angle 10.0
5 open-angle glaucoma 10.0
6 colorectal cancer 9.9
7 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
8 mungan syndrome 9.9
9 melioidosis 9.9
10 melanoma 9.9
11 skin melanoma 9.9
12 acrofacial dysostosis, catania type 9.8
13 cervical cancer 9.8
14 myocardial infarction 9.8
15 cervicitis 9.8
16 acute cholinergic dysautonomia 9.8

Graphical network of the top 20 diseases related to Athabaskan Brainstem Dysgenesis Syndrome:



Diseases related to Athabaskan Brainstem Dysgenesis Syndrome

Symptoms & Phenotypes for Athabaskan Brainstem Dysgenesis Syndrome

Clinical features from OMIM:

601536

Human phenotypes related to Athabaskan Brainstem Dysgenesis Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 abnormality of eye movement 31 hallmark (90%) HP:0000496
3 delayed gross motor development 31 HP:0002194
4 abnormality of brainstem morphology 31 obligate (100%) HP:0002363
5 abnormal cerebral artery morphology 31 HP:0009145

Drugs & Therapeutics for Athabaskan Brainstem Dysgenesis Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Athabaskan Brainstem Dysgenesis Syndrome

Genetic Tests for Athabaskan Brainstem Dysgenesis Syndrome

Genetic tests related to Athabaskan Brainstem Dysgenesis Syndrome:

# Genetic test Affiliating Genes
1 Bosley-Salih-Alorainy Syndrome 28
2 Athabaskan Brainstem Dysgenesis 28 HOXA1

Anatomical Context for Athabaskan Brainstem Dysgenesis Syndrome

MalaCards organs/tissues related to Athabaskan Brainstem Dysgenesis Syndrome:

38
Heart, Eye

Publications for Athabaskan Brainstem Dysgenesis Syndrome

Articles related to Athabaskan Brainstem Dysgenesis Syndrome:

(show all 14)
# Title Authors Year
1
Synthesis, biological evaluation and molecular modelling studies of novel ACD- and ABD-ring steroidomimetics as inhibitors of CYP17. ( 18024111 )
2008
2
A subgroup of HOX Abd-B gene is differentially expressed in cervical cancer. ( 16803519 )
2006
3
Dissecting the regulatory landscape of the Abd-B gene of the bithorax complex. ( 16818450 )
2006
4
Visualization of trans-homolog enhancer-promoter interactions at the Abd-B Hox locus in the Drosophila embryo. ( 15572134 )
2004
5
Differential expression of the Drosophila BX-C in polytene chromosomes in cells of larval fat bodies: a cytological approach to identifying in vivo targets of the homeotic Ubx, Abd-A and Abd-B proteins. ( 12835385 )
2003
6
[The endothelin-1 level in blood serum of patients with primary open angle glaucoma abd its influence on the static perimetry abd Gdx changes]. ( 12608303 )
2002
7
Replacement of Fab-7 by the gypsy or scs insulator disrupts long-distance regulatory interactions in the Abd-B gene of the bithorax complex. ( 11741549 )
2001
8
Transvection in the Drosophila Abd-B domain: extensive upstream sequences are involved in anchoring distant cis-regulatory regions to the promoter. ( 9611211 )
1998
9
[Angiotensin-converting enzyme inhibitors following a myocardial infarct: clinical abd echographic indications]. ( 9036352 )
1997
10
The Abd-B-like Hox homeodomain proteins can be subdivided by the ability to form complexes with Pbx1a on a novel DNA target. ( 9079637 )
1997
11
Ectopic expression of UBX and ABD-B proteins during Drosophila embryogenesis: competition, not a functional hierarchy, explains phenotypic suppression. ( 1363544 )
1992
12
Molecular definition of the morphogenetic and regulatory functions and the cis-regulatory elements of the Drosophila Abd-B homeotic gene. ( 1680045 )
1991
13
Expression and regulation of the abd-A gene of Drosophila. ( 1983117 )
1990
14
Different transcripts of the Drosophila Abd-B gene correlate with distinct genetic sub-functions. ( 2903050 )
1988

Variations for Athabaskan Brainstem Dysgenesis Syndrome

ClinVar genetic disease variations for Athabaskan Brainstem Dysgenesis Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXA1 HOXA1, 1-BP INS, 175G insertion Pathogenic
2 HOXA1 NM_005522.4(HOXA1): c.84C> G (p.Tyr28Ter) single nucleotide variant Pathogenic rs104894017 GRCh37 Chromosome 7, 27135448: 27135448
3 HOXA1 NM_005522.4(HOXA1): c.76C> T (p.Arg26Ter) single nucleotide variant Pathogenic rs104894018 GRCh37 Chromosome 7, 27135456: 27135456
4 HOXA1 HOXA1, 1-BP DEL, 185G deletion Pathogenic

Expression for Athabaskan Brainstem Dysgenesis Syndrome

Search GEO for disease gene expression data for Athabaskan Brainstem Dysgenesis Syndrome.

Pathways for Athabaskan Brainstem Dysgenesis Syndrome

GO Terms for Athabaskan Brainstem Dysgenesis Syndrome

Sources for Athabaskan Brainstem Dysgenesis Syndrome

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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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