ABDS
MCID: ATH001
MIFTS: 28

Athabaskan Brainstem Dysgenesis Syndrome (ABDS)

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

Aliases & Classifications for Athabaskan Brainstem Dysgenesis Syndrome

MalaCards integrated aliases for Athabaskan Brainstem Dysgenesis Syndrome:

Name: Athabaskan Brainstem Dysgenesis Syndrome 58 12 54 60 76 13
Bosley-Salih-Alorainy Syndrome 58 60 76 30 6 41 74
Athabaskan Brainstem Dysgenesis 54 30 6 74
Navajo Brainstem Syndrome 58 12 54 60
Abds 58 54 76
Bsas 54 76 17
Athabascan Brainstem Dysgenesis Syndrome 60 38
Bosley Salih Alorainy Syndrome 54
Narvajo Brainstem Syndrome 76
Human Hoxa1 Syndromes 54
Absd 60

Characteristics:

Orphanet epidemiological data:

60
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:

Disease Ontology 12 DOID:0050682
OMIM 58 601536
KEGG 38 H00727
MESH via Orphanet 46 C535397
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1832215 C1832216
SNOMED-CT via HPO 70 103252009 430099007 60700002

Summaries for Athabaskan Brainstem Dysgenesis Syndrome

NIH Rare Diseases : 54 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.

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. An important gene associated with Athabaskan Brainstem Dysgenesis Syndrome is HOXA1 (Homeobox A1). Affiliated tissues include heart and eye, and related phenotypes are abnormality of brainstem morphology and abnormality of eye movement

Disease Ontology : 12 An autosomal recessive disease that is characterized by brainstem dysgenesis, has material basis in homozygous mutations in the HOXA1 gene.

UniProtKB/Swiss-Prot : 76 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

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

Human phenotypes related to Athabaskan Brainstem Dysgenesis Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of brainstem morphology 33 obligate (100%) HP:0002363
2 abnormality of eye movement 33 hallmark (90%) HP:0000496
3 sensorineural hearing impairment 33 HP:0000407
4 delayed gross motor development 33 HP:0002194
5 abnormal cerebral artery morphology 33 HP:0009145

Clinical features from OMIM:

601536

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 30
2 Athabaskan Brainstem Dysgenesis 30 HOXA1

Anatomical Context for Athabaskan Brainstem Dysgenesis Syndrome

MalaCards organs/tissues related to Athabaskan Brainstem Dysgenesis Syndrome:

42
Heart, Eye

Publications for Athabaskan Brainstem Dysgenesis Syndrome

Variations for Athabaskan Brainstem Dysgenesis Syndrome

ClinVar genetic disease variations for Athabaskan Brainstem Dysgenesis Syndrome:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXA1 NM_005522.4(HOXA1): c.84C> G (p.Tyr28Ter) single nucleotide variant Pathogenic rs104894017 GRCh38 Chromosome 7, 27095829: 27095829
2 HOXA1 NM_005522.4(HOXA1): c.175dup (p.Val59Glyfs) duplication Pathogenic GRCh38 Chromosome 7, 27095738: 27095738
3 HOXA1 NM_005522.4(HOXA1): c.175dup (p.Val59Glyfs) duplication Pathogenic GRCh37 Chromosome 7, 27135357: 27135357
4 HOXA1 NM_005522.4(HOXA1): c.84C> G (p.Tyr28Ter) single nucleotide variant Pathogenic rs104894017 GRCh37 Chromosome 7, 27135448: 27135448
5 HOXA1 NM_005522.4(HOXA1): c.76C> T (p.Arg26Ter) single nucleotide variant Pathogenic rs104894018 GRCh37 Chromosome 7, 27135456: 27135456
6 HOXA1 NM_005522.4(HOXA1): c.76C> T (p.Arg26Ter) single nucleotide variant Pathogenic rs104894018 GRCh38 Chromosome 7, 27095837: 27095837
7 HOXA1 NM_005522.4(HOXA1): c.185delG (p.Gly62Valfs) deletion Pathogenic GRCh37 Chromosome 7, 27135347: 27135347
8 HOXA1 NM_005522.4(HOXA1): c.185delG (p.Gly62Valfs) deletion Pathogenic GRCh38 Chromosome 7, 27095728: 27095728
9 HOXA1 NM_005522.4(HOXA1): c.*1387C> G single nucleotide variant Uncertain significance rs558870068 GRCh38 Chromosome 7, 27093053: 27093053
10 HOXA1 NM_005522.4(HOXA1): c.*1387C> G single nucleotide variant Uncertain significance rs558870068 GRCh37 Chromosome 7, 27132672: 27132672
11 HOXA1 NM_005522.4(HOXA1): c.*1345T> C single nucleotide variant Uncertain significance rs114796827 GRCh38 Chromosome 7, 27093095: 27093095
12 HOXA1 NM_005522.4(HOXA1): c.*1345T> C single nucleotide variant Uncertain significance rs114796827 GRCh37 Chromosome 7, 27132714: 27132714
13 HOXA1 NM_005522.4(HOXA1): c.*1150C> T single nucleotide variant Uncertain significance rs886062254 GRCh38 Chromosome 7, 27093290: 27093290
14 HOXA1 NM_005522.4(HOXA1): c.*1150C> T single nucleotide variant Uncertain significance rs886062254 GRCh37 Chromosome 7, 27132909: 27132909
15 HOXA1 NM_005522.4(HOXA1): c.*907A> G single nucleotide variant Likely benign rs76826100 GRCh38 Chromosome 7, 27093533: 27093533
16 HOXA1 NM_005522.4(HOXA1): c.*907A> G single nucleotide variant Likely benign rs76826100 GRCh37 Chromosome 7, 27133152: 27133152
17 HOXA1 NM_005522.4(HOXA1): c.*563G> C single nucleotide variant Uncertain significance rs117011404 GRCh38 Chromosome 7, 27093877: 27093877
18 HOXA1 NM_005522.4(HOXA1): c.*563G> C single nucleotide variant Uncertain significance rs117011404 GRCh37 Chromosome 7, 27133496: 27133496
19 HOXA1 NM_005522.4(HOXA1): c.*250G> C single nucleotide variant Uncertain significance rs886062256 GRCh38 Chromosome 7, 27094190: 27094190
20 HOXA1 NM_005522.4(HOXA1): c.*250G> C single nucleotide variant Uncertain significance rs886062256 GRCh37 Chromosome 7, 27133809: 27133809
21 HOXA1 NM_005522.4(HOXA1): c.*56C> A single nucleotide variant Likely benign rs56012816 GRCh38 Chromosome 7, 27094384: 27094384
22 HOXA1 NM_005522.4(HOXA1): c.*56C> A single nucleotide variant Likely benign rs56012816 GRCh37 Chromosome 7, 27134003: 27134003
23 HOXA1 NM_005522.4(HOXA1): c.825C> T (p.Ile275=) single nucleotide variant Uncertain significance rs886062257 GRCh38 Chromosome 7, 27094623: 27094623
24 HOXA1 NM_005522.4(HOXA1): c.825C> T (p.Ile275=) single nucleotide variant Uncertain significance rs886062257 GRCh37 Chromosome 7, 27134242: 27134242
25 HOXA1 NM_005522.4(HOXA1): c.653-12A> G single nucleotide variant Uncertain significance rs761281990 GRCh38 Chromosome 7, 27094807: 27094807
26 HOXA1 NM_005522.4(HOXA1): c.653-12A> G single nucleotide variant Uncertain significance rs761281990 GRCh37 Chromosome 7, 27134426: 27134426
27 HOXA1 NM_005522.4(HOXA1): c.566A> C (p.Glu189Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs17500494 GRCh38 Chromosome 7, 27095347: 27095347
28 HOXA1 NM_005522.4(HOXA1): c.566A> C (p.Glu189Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs17500494 GRCh37 Chromosome 7, 27134966: 27134966
29 HOXA1 NM_005522.4(HOXA1): c.207C> T (p.His69=) single nucleotide variant Conflicting interpretations of pathogenicity rs577426612 GRCh37 Chromosome 7, 27135325: 27135325
30 HOXA1 NM_005522.4(HOXA1): c.207C> T (p.His69=) single nucleotide variant Conflicting interpretations of pathogenicity rs577426612 GRCh38 Chromosome 7, 27095706: 27095706
31 HOXA1; HOXA2 NM_006735.3(HOXA2): c.*108C> T single nucleotide variant Likely benign rs117630421 GRCh37 Chromosome 7, 27140237: 27140237
32 HOXA1; HOXA2 NM_006735.3(HOXA2): c.*108C> T single nucleotide variant Likely benign rs117630421 GRCh38 Chromosome 7, 27100618: 27100618
33 HOXA1 NM_005522.4(HOXA1): c.*331C> A single nucleotide variant Uncertain significance rs886062255 GRCh38 Chromosome 7, 27094109: 27094109
34 HOXA1 NM_005522.4(HOXA1): c.*331C> A single nucleotide variant Uncertain significance rs886062255 GRCh37 Chromosome 7, 27133728: 27133728
35 HOXA1 NM_005522.4(HOXA1): c.*181G> A single nucleotide variant Uncertain significance rs145102625 GRCh38 Chromosome 7, 27094259: 27094259
36 HOXA1 NM_005522.4(HOXA1): c.*181G> A single nucleotide variant Uncertain significance rs145102625 GRCh37 Chromosome 7, 27133878: 27133878
37 HOXA1 NM_005522.4(HOXA1): c.691G> A (p.Ala231Thr) single nucleotide variant Uncertain significance rs779419910 GRCh38 Chromosome 7, 27094757: 27094757
38 HOXA1 NM_005522.4(HOXA1): c.691G> A (p.Ala231Thr) single nucleotide variant Uncertain significance rs779419910 GRCh37 Chromosome 7, 27134376: 27134376
39 HOXA1 NM_005522.4(HOXA1): c.549C> A (p.Leu183=) single nucleotide variant Uncertain significance rs778780253 GRCh38 Chromosome 7, 27095364: 27095364
40 HOXA1 NM_005522.4(HOXA1): c.549C> A (p.Leu183=) single nucleotide variant Uncertain significance rs778780253 GRCh37 Chromosome 7, 27134983: 27134983
41 HOXA1; HOXA2 NM_005522.4(HOXA1): c.436C> A (p.His146Asn) single nucleotide variant Benign/Likely benign rs45571645 GRCh37 Chromosome 7, 27135096: 27135096
42 HOXA1; HOXA2 NM_005522.4(HOXA1): c.436C> A (p.His146Asn) single nucleotide variant Benign/Likely benign rs45571645 GRCh38 Chromosome 7, 27095477: 27095477
43 HOXA1 NM_005522.4(HOXA1): c.255C> G (p.Asn85Lys) single nucleotide variant Uncertain significance rs886062259 GRCh37 Chromosome 7, 27135277: 27135277
44 HOXA1 NM_005522.4(HOXA1): c.255C> G (p.Asn85Lys) single nucleotide variant Uncertain significance rs886062259 GRCh38 Chromosome 7, 27095658: 27095658
45 HOXA1 NM_005522.4(HOXA1): c.216T> C (p.His72=) single nucleotide variant Uncertain significance rs886062260 GRCh37 Chromosome 7, 27135316: 27135316
46 HOXA1 NM_005522.4(HOXA1): c.216T> C (p.His72=) single nucleotide variant Uncertain significance rs886062260 GRCh38 Chromosome 7, 27095697: 27095697
47 HOXA1; HOXA2 NM_005522.4(HOXA1): c.213C> T (p.His71=) single nucleotide variant Benign/Likely benign rs2074398 GRCh37 Chromosome 7, 27135319: 27135319
48 HOXA1; HOXA2 NM_005522.4(HOXA1): c.213C> T (p.His71=) single nucleotide variant Benign/Likely benign rs2074398 GRCh38 Chromosome 7, 27095700: 27095700
49 HOXA1 NM_005522.4(HOXA1): c.165G> A (p.Val55=) single nucleotide variant Uncertain significance rs886062261 GRCh37 Chromosome 7, 27135367: 27135367
50 HOXA1 NM_005522.4(HOXA1): c.165G> A (p.Val55=) single nucleotide variant Uncertain significance rs886062261 GRCh38 Chromosome 7, 27095748: 27095748

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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