BAMS
MCID: BSM002
MIFTS: 35

Bosma Arhinia Microphthalmia Syndrome (BAMS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Bosma Arhinia Microphthalmia Syndrome

MalaCards integrated aliases for Bosma Arhinia Microphthalmia Syndrome:

Name: Bosma Arhinia Microphthalmia Syndrome 58 26 76
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism 58 26 76
Bams 58 26 76
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome 26 60
Arhinia, Choanal Atresia, and Microphthalmia 26 74
Arhinia Choanal Atresia Microphthalmia 26 76
Congenital Absence of Nose and Anterior Nasopharynx 76
Arrhinia-Choanal Atresia-Microphthalmia Syndrome 60
Bosma Arhinia-Microphthalmia Syndrome 60
Bosma Henkin Christiansen Syndrome 76
Bosma-Henkin-Christiansen Syndrome 60
Ruprecht Majewski Syndrome 26
Gifford-Bosma Syndrome 26
Bosma Syndrome 26
Bam Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
arrhinia-choanal atresia-microphthalmia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
marked intra- and interfamilial variability
incomplete penetrance has been observed


HPO:

33
bosma arhinia microphthalmia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bosma Arhinia Microphthalmia Syndrome

OMIM : 58 Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence (summary by Graham and Lee, 2006). Also see absence of nasal bones (161480). (603457)

MalaCards based summary : Bosma Arhinia Microphthalmia Syndrome, also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, is related to arhinia choanal atresia microphthalmia and microphthalmia. An important gene associated with Bosma Arhinia Microphthalmia Syndrome is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Affiliated tissues include eye, bone and testes, and related phenotypes are inguinal hernia and cataract

Genetics Home Reference : 26 Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.

CDC : 3 BAM! Body and Mind will tell you everything you need to know about all of the stuff that matters. Whether it’s nutrition, physical activity, stress, safety, or diseases, we’ve got you covered! We designed this specifically for you—kids 9–12 years old—and even have some awesome games and quizzes to test your skills!

UniProtKB/Swiss-Prot : 76 Bosma arhinia microphthalmia syndrome: An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence.

Related Diseases for Bosma Arhinia Microphthalmia Syndrome

Diseases related to Bosma Arhinia Microphthalmia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 arhinia choanal atresia microphthalmia 11.5
2 microphthalmia 10.8
3 muscular dystrophy 10.6
4 cutaneous leishmaniasis 10.4
5 leishmaniasis 10.4
6 choanal atresia, posterior 10.4
7 brachydactyly, type d 10.1
8 kala-azar 1 10.1
9 post-traumatic stress disorder 10.1
10 multiple sclerosis 10.0
11 retinoblastoma 10.0
12 mycosis fungoides 10.0
13 horns in sheep 10.0
14 caronte 10.0
15 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
16 arteriovenous fistula 10.0
17 polymyositis 10.0

Graphical network of the top 20 diseases related to Bosma Arhinia Microphthalmia Syndrome:



Diseases related to Bosma Arhinia Microphthalmia Syndrome

Symptoms & Phenotypes for Bosma Arhinia Microphthalmia Syndrome

Human phenotypes related to Bosma Arhinia Microphthalmia Syndrome:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 60 33 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000023
2 cataract 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000518
3 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
4 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000568
5 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
6 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
7 anosmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000458
8 hyposmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004409
9 aplasia/hypoplasia involving the nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0009924
10 absent nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0100596
11 misalignment of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000692
12 abnormality of the midface 60 33 hallmark (90%) Very frequent (99-80%) HP:0000309
13 failure of eruption of permanent teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006352
14 single naris 60 33 hallmark (90%) Very frequent (99-80%) HP:0009932
15 hypoplasia of the olfactory bulb 60 33 hallmark (90%) Very frequent (99-80%) HP:0040326
16 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
17 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
18 blindness 60 33 frequent (33%) Frequent (79-30%) HP:0000618
19 abdominal wall muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009023
20 cleft palate 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000175
21 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
22 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
23 visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000572
24 choanal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0000453
25 lacrimation abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000632
26 amblyopia 60 33 frequent (33%) Frequent (79-30%) HP:0000646
27 reduced number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0009804
28 gynecomastia 60 33 frequent (33%) Frequent (79-30%) HP:0000771
29 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
30 abnormality of the sense of smell 60 33 frequent (33%) Frequent (79-30%) HP:0004408
31 anophthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000528
32 bifid uvula 60 33 occasional (7.5%) Occasional (29-5%) HP:0000193
33 submucous cleft hard palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000176
34 hearing impairment 33 occasional (7.5%) HP:0000365
35 dental malocclusion 33 occasional (7.5%) HP:0000689
36 corneal opacity 33 occasional (7.5%) HP:0007957
37 hypospadias 33 occasional (7.5%) HP:0000047
38 synophrys 33 occasional (7.5%) HP:0000664
39 hypoplastic labia majora 33 occasional (7.5%) HP:0000059
40 hypoplasia of teeth 33 occasional (7.5%) HP:0000685
41 agenesis of permanent teeth 33 occasional (7.5%) HP:0006349
42 cleft lip 33 occasional (7.5%) HP:0410030
43 primary amenorrhea 33 HP:0000786
44 micropenis 33 HP:0000054
45 coloboma 33 HP:0000589
46 external genital hypoplasia 60 Very frequent (99-80%)
47 aplasia of the nose 33 HP:0009927

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
cataract (in some patients)
absent or blind nasolacrimal ducts
microphthalmia (including clinical anophthalmia)
coloboma (iris, retina, and/or optic nerve)
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
choanal atresia
anosmia
arhinia

Head And Neck Face:
midface hypoplasia

Genitourinary:
hypogonadotropic hypogonadism

Head And Neck Ears:
hearing loss (in some patients)
dysmorphic ears (in some patients)

Respiratory:
breathing difficulties due to choanal atresia (in some patients)

Genitourinary External Genitalia Female:
hypoplastic labia majora (in some patients)
inguinal hernia (rare)

Neurologic Central Nervous System:
olfactory bulb agenesis
normal intelligence (in most patients)

Head And Neck Mouth:
cleft palate
high-arched palate
cleft lip (rare)

Genitourinary Internal Genitalia Female:
primary amenorrhea

Genitourinary External Genitalia Male:
micropenis
hypospadias (rare)
inguinal hernia (in some patients)

Skeletal Skull:
hypoplastic maxilla
absent nasal bones
absent nasal spine of frontal bone
absent vomer
absent nasal conchae
more
Endocrine Features:
hypogonadotropic hypogonadism
low testosterone levels
low luteinizing hormone (lh) levels
low follicle stimulating hormone (fsh) levels
low estrogen levels

Head And Neck Teeth:
malocclusion (in some patients)
crowded dentition (in some patients)
missing teeth (in some patients)
hypoplastic teeth (in some patients)

Chest Breasts:
absent thelarche (in some patients)

Skeletal:
decreased bone mineralization (in some patients)

Clinical features from OMIM:

603457

Drugs & Therapeutics for Bosma Arhinia Microphthalmia Syndrome

Search Clinical Trials , NIH Clinical Center for Bosma Arhinia Microphthalmia Syndrome

Genetic Tests for Bosma Arhinia Microphthalmia Syndrome

Anatomical Context for Bosma Arhinia Microphthalmia Syndrome

MalaCards organs/tissues related to Bosma Arhinia Microphthalmia Syndrome:

42
Eye, Bone, Testes, Olfactory Bulb, Retina

Publications for Bosma Arhinia Microphthalmia Syndrome

Articles related to Bosma Arhinia Microphthalmia Syndrome:

# Title Authors Year
1
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. ( 29980640 )
2018
2
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. ( 28067911 )
2017
3
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28546579 )
2017
4
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28067909 )
2017
5
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. ( 26842768 )
2016
6
Bosma arhinia microphthalmia syndrome. ( 16353241 )
2006

Variations for Bosma Arhinia Microphthalmia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bosma Arhinia Microphthalmia Syndrome:

76 (show all 23)
# Symbol AA change Variation ID SNP ID
1 SMCHD1 p.Leu107Pro VAR_078869 rs113540273
2 SMCHD1 p.Met129Lys VAR_078870 rs113540273
3 SMCHD1 p.Ala134Ser VAR_078871
4 SMCHD1 p.Ser135Cys VAR_078872 rs105751964
5 SMCHD1 p.Ser135Ile VAR_078873 rs105751964
6 SMCHD1 p.Ser135Asn VAR_078874 rs105751964
7 SMCHD1 p.Glu136Asp VAR_078875 rs105751964
8 SMCHD1 p.Glu136Gly VAR_078876
9 SMCHD1 p.Gly137Glu VAR_078877 rs105751964
10 SMCHD1 p.Asn139His VAR_078879 rs113540273
11 SMCHD1 p.Leu141Phe VAR_078880 rs105751964
12 SMCHD1 p.Phe171Val VAR_078881 rs113540274
13 SMCHD1 p.Ala242Gly VAR_078884 rs113540274
14 SMCHD1 p.Trp342Ser VAR_078886
15 SMCHD1 p.Gln345Arg VAR_078888 rs105751963
16 SMCHD1 p.His348Arg VAR_078889 rs105751964
17 SMCHD1 p.Gln400Leu VAR_078890 rs105751964
18 SMCHD1 p.Asp420Val VAR_078891 rs113540274
19 SMCHD1 p.Glu473Gln VAR_078894 rs113540274
20 SMCHD1 p.Lys518Glu VAR_078895
21 SMCHD1 p.Thr523Lys VAR_078896 rs113540274
22 SMCHD1 p.Asn524Ser VAR_078897 rs113540274
23 SMCHD1 p.Arg552Gln VAR_078899 rs886042392

ClinVar genetic disease variations for Bosma Arhinia Microphthalmia Syndrome:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMCHD1 NM_015295.2(SMCHD1): c.1655G> A (p.Arg552Gln) single nucleotide variant Uncertain significance rs886042392 GRCh37 Chromosome 18, 2703697: 2703697
2 SMCHD1 NM_015295.2(SMCHD1): c.1655G> A (p.Arg552Gln) single nucleotide variant Uncertain significance rs886042392 GRCh38 Chromosome 18, 2703699: 2703699
3 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh38 Chromosome 18, 2694687: 2694687
4 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh37 Chromosome 18, 2694685: 2694685
5 SMCHD1 NM_015295.2(SMCHD1): c.1043A> G (p.His348Arg) single nucleotide variant Pathogenic rs1057519640 GRCh38 Chromosome 18, 2697034: 2697034
6 SMCHD1 NM_015295.2(SMCHD1): c.1043A> G (p.His348Arg) single nucleotide variant Pathogenic rs1057519640 GRCh37 Chromosome 18, 2697032: 2697032
7 SMCHD1 NM_015295.2(SMCHD1): c.423G> C (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh38 Chromosome 18, 2667030: 2667030
8 SMCHD1 NM_015295.2(SMCHD1): c.423G> C (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh37 Chromosome 18, 2667029: 2667029
9 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh38 Chromosome 18, 2697898: 2697898
10 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh37 Chromosome 18, 2697896: 2697896
11 SMCHD1 NM_015295.2(SMCHD1): c.408A> C (p.Glu136Asp) single nucleotide variant Pathogenic rs1057519643 GRCh38 Chromosome 18, 2667015: 2667015
12 SMCHD1 NM_015295.2(SMCHD1): c.408A> C (p.Glu136Asp) single nucleotide variant Pathogenic rs1057519643 GRCh37 Chromosome 18, 2667014: 2667014
13 SMCHD1 NM_015295.2(SMCHD1): c.410G> A (p.Gly137Glu) single nucleotide variant Pathogenic rs1057519644 GRCh38 Chromosome 18, 2667017: 2667017
14 SMCHD1 NM_015295.2(SMCHD1): c.410G> A (p.Gly137Glu) single nucleotide variant Pathogenic rs1057519644 GRCh37 Chromosome 18, 2667016: 2667016
15 SMCHD1 NM_015295.2(SMCHD1): c.403A> T (p.Ser135Cys) single nucleotide variant Pathogenic rs1057519645 GRCh38 Chromosome 18, 2667010: 2667010
16 SMCHD1 NM_015295.2(SMCHD1): c.403A> T (p.Ser135Cys) single nucleotide variant Pathogenic rs1057519645 GRCh37 Chromosome 18, 2667009: 2667009
17 SMCHD1 NM_015295.2(SMCHD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs1057519646 GRCh38 Chromosome 18, 2667011: 2667011
18 SMCHD1 NM_015295.2(SMCHD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs1057519646 GRCh37 Chromosome 18, 2667010: 2667010
19 SMCHD1 NM_015295.2(SMCHD1): c.404G> T (p.Ser135Ile) single nucleotide variant Pathogenic rs1057519646 GRCh38 Chromosome 18, 2667011: 2667011
20 SMCHD1 NM_015295.2(SMCHD1): c.404G> T (p.Ser135Ile) single nucleotide variant Pathogenic rs1057519646 GRCh37 Chromosome 18, 2667010: 2667010
21 SMCHD1 NM_015295.2(SMCHD1): c.386T> A (p.Met129Lys) single nucleotide variant Pathogenic rs1135402738 GRCh38 Chromosome 18, 2666993: 2666993
22 SMCHD1 NM_015295.2(SMCHD1): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs1135402737 GRCh38 Chromosome 18, 2666927: 2666927
23 SMCHD1 NM_015295.2(SMCHD1): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs1135402737 GRCh37 Chromosome 18, 2666926: 2666926
24 SMCHD1 NM_015295.2(SMCHD1): c.386T> A (p.Met129Lys) single nucleotide variant Pathogenic rs1135402738 GRCh37 Chromosome 18, 2666992: 2666992
25 SMCHD1 NM_015295.2(SMCHD1): c.415A> C (p.Asn139His) single nucleotide variant Pathogenic rs1135402739 GRCh38 Chromosome 18, 2667022: 2667022
26 SMCHD1 NM_015295.2(SMCHD1): c.415A> C (p.Asn139His) single nucleotide variant Pathogenic rs1135402739 GRCh37 Chromosome 18, 2667021: 2667021
27 SMCHD1 NM_015295.2(SMCHD1): c.423G> T (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh38 Chromosome 18, 2667030: 2667030
28 SMCHD1 NM_015295.2(SMCHD1): c.423G> T (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh37 Chromosome 18, 2667029: 2667029
29 SMCHD1 NM_015295.2(SMCHD1): c.511T> G (p.Phe171Val) single nucleotide variant Pathogenic rs1135402740 GRCh38 Chromosome 18, 2674018: 2674018
30 SMCHD1 NM_015295.2(SMCHD1): c.511T> G (p.Phe171Val) single nucleotide variant Pathogenic rs1135402740 GRCh37 Chromosome 18, 2674017: 2674017
31 SMCHD1 NM_015295.2(SMCHD1): c.725C> G (p.Ala242Gly) single nucleotide variant Pathogenic rs1135402741 GRCh37 Chromosome 18, 2688478: 2688478
32 SMCHD1 NM_015295.2(SMCHD1): c.725C> G (p.Ala242Gly) single nucleotide variant Pathogenic rs1135402741 GRCh38 Chromosome 18, 2688480: 2688480
33 SMCHD1 NM_015295.2(SMCHD1): c.1259A> T (p.Asp420Val) single nucleotide variant Pathogenic rs1135402742 GRCh38 Chromosome 18, 2697958: 2697958
34 SMCHD1 NM_015295.2(SMCHD1): c.1259A> T (p.Asp420Val) single nucleotide variant Pathogenic rs1135402742 GRCh37 Chromosome 18, 2697956: 2697956
35 SMCHD1 NM_015295.2(SMCHD1): c.1417G> C (p.Glu473Gln) single nucleotide variant Pathogenic rs1135402743 GRCh38 Chromosome 18, 2700613: 2700613
36 SMCHD1 NM_015295.2(SMCHD1): c.1417G> C (p.Glu473Gln) single nucleotide variant Pathogenic rs1135402743 GRCh37 Chromosome 18, 2700611: 2700611
37 SMCHD1 NM_015295.2(SMCHD1): c.1568C> A (p.Thr523Lys) single nucleotide variant Pathogenic rs1135402744 GRCh37 Chromosome 18, 2700837: 2700837
38 SMCHD1 NM_015295.2(SMCHD1): c.1568C> A (p.Thr523Lys) single nucleotide variant Pathogenic rs1135402744 GRCh38 Chromosome 18, 2700839: 2700839
39 SMCHD1 NM_015295.2(SMCHD1): c.1571A> G (p.Asn524Ser) single nucleotide variant Pathogenic rs1135402745 GRCh37 Chromosome 18, 2700840: 2700840
40 SMCHD1 NM_015295.2(SMCHD1): c.1571A> G (p.Asn524Ser) single nucleotide variant Pathogenic rs1135402745 GRCh38 Chromosome 18, 2700842: 2700842

Expression for Bosma Arhinia Microphthalmia Syndrome

Search GEO for disease gene expression data for Bosma Arhinia Microphthalmia Syndrome.

Pathways for Bosma Arhinia Microphthalmia Syndrome

GO Terms for Bosma Arhinia Microphthalmia Syndrome

Sources for Bosma Arhinia Microphthalmia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....