MCID: ATH001
MIFTS: 27

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 54 12 50 56 71 13
Bosley-Salih-Alorainy Syndrome 54 24 56 71 29 69
Athabaskan Brainstem Dysgenesis 50 29 69
Navajo Brainstem Syndrome 12 50 56
Abds 50 24 71
Bsas 50 24 71
Athabaskan Brain Stem Dysgenesis Syndrome 24
Athabascan Brainstem Dysgenesis Syndrome 56
Bosley Salih Alorainy Syndrome 50
Narvajo Brainstem Syndrome 71
Human Hoxa1 Syndromes 50
Absd 56

Characteristics:

Orphanet epidemiological data:

56
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 54 601536
Disease Ontology 12 DOID:0050682
UMLS via Orphanet 70 C1832216 C1832215
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 43 C535397

Summaries for Athabaskan Brainstem Dysgenesis Syndrome

NIH Rare Diseases : 50 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 myopathy, distal, 4 and charcot-marie-tooth disease, type 4d, and has symptoms including sensorineural hearing impairment, delayed gross motor development and abnormality of eye movement. An important gene associated with Athabaskan Brainstem Dysgenesis Syndrome is HOXA1 (Homeobox A1). Affiliated tissues include heart, brain 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:

id Related Disease Score Top Affiliating Genes
1 myopathy, distal, 4 10.8
2 charcot-marie-tooth disease, type 4d 10.8
3 open-angle glaucoma 10.0
4 cervicitis 9.8
5 myocardial infarction 9.8
6 skin melanoma 9.8
7 colorectal cancer 9.8
8 melioidosis 9.8
9 hiv-1 9.8
10 melanoma 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:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 delayed gross motor development 32 HP:0002194
3 abnormality of eye movement 32 hallmark (90%) HP:0000496
4 abnormality of brainstem morphology 32 obligate (100%) HP:0002363
5 abnormality of cerebral artery 32 HP:0009145

Drugs & Therapeutics for Athabaskan Brainstem Dysgenesis Syndrome

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Bosley-Salih-Alorainy Syndrome 29 24 HOXA1
2 Athabaskan Brainstem Dysgenesis 29
3 Athabaskan Brain Stem Dysgenesis Syndrome 24 HOXA1

Anatomical Context for Athabaskan Brainstem Dysgenesis Syndrome

MalaCards organs/tissues related to Athabaskan Brainstem Dysgenesis Syndrome:

39
Heart, Brain, Eye

Publications for Athabaskan Brainstem Dysgenesis Syndrome

Variations for Athabaskan Brainstem Dysgenesis Syndrome

ClinVar genetic disease variations for Athabaskan Brainstem Dysgenesis Syndrome:

6
id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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