MCID: BSM002
MIFTS: 35

Bosma Arhinia Microphthalmia Syndrome

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

Aliases & Classifications for Bosma Arhinia Microphthalmia Syndrome

MalaCards integrated aliases for Bosma Arhinia Microphthalmia Syndrome:

Name: Bosma Arhinia Microphthalmia Syndrome 53 24 71
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism 53 24 71
Bams 53 24 71
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome 24 55
Arhinia, Choanal Atresia, and Microphthalmia 24 69
Arhinia Choanal Atresia Microphthalmia 24 71
Congenital Absence of Nose and Anterior Nasopharynx 71
Arrhinia-Choanal Atresia-Microphthalmia Syndrome 55
Bosma Arhinia-Microphthalmia Syndrome 55
Bosma Henkin Christiansen Syndrome 71
Bosma-Henkin-Christiansen Syndrome 55
Ruprecht Majewski Syndrome 24
Gifford-Bosma Syndrome 24
Bosma Syndrome 24
Bam Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant

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


HPO:

31
bosma arhinia microphthalmia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bosma Arhinia Microphthalmia Syndrome

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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, and has symptoms including anosmia, hyposmia and hypertelorism. 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.

Genetics Home Reference : 24 Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 arhinia choanal atresia microphthalmia 11.4
2 microphthalmia 10.6
3 muscular dystrophy 10.4
4 leishmaniasis 10.2
5 kala-azar 1 10.2
6 cutaneous leishmaniasis 10.2
7 retinoblastoma 9.9

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Nose:
anosmia
choanal atresia
arhinia

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

Genitourinary Internal Genitalia Female:
primary amenorrhea

Head And Neck Face:
midface hypoplasia

Genitourinary:
hypogonadotropic hypogonadism

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

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)

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

Head And Neck Eyes:
hypertelorism
cataract (in some patients)
synophrys (in some patients)
absent or blind nasolacrimal ducts
microphthalmia (including clinical anophthalmia)
more
Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

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

Skeletal:
decreased bone mineralization (in some patients)


Clinical features from OMIM:

603457

Human phenotypes related to Bosma Arhinia Microphthalmia Syndrome:

55 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anosmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000458
2 hyposmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004409
3 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
4 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
5 inguinal hernia 55 31 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000023
6 cataract 55 31 occasional (7.5%) Very frequent (99-80%) HP:0000518
7 blindness 55 31 frequent (33%) Frequent (79-30%) HP:0000618
8 abdominal wall muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0009023
9 cleft palate 55 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000175
10 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
11 hypogonadotrophic hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000044
12 hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000135
13 microphthalmia 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000568
14 visual loss 55 31 frequent (33%) Frequent (79-30%) HP:0000572
15 choanal atresia 55 31 frequent (33%) Frequent (79-30%) HP:0000453
16 lacrimation abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000632
17 amblyopia 55 31 frequent (33%) Frequent (79-30%) HP:0000646
18 reduced number of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0009804
19 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
20 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
21 gynecomastia 55 31 frequent (33%) Frequent (79-30%) HP:0000771
22 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
23 abnormality of the sense of smell 55 31 frequent (33%) Frequent (79-30%) HP:0004408
24 anophthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000528
25 bifid uvula 55 31 occasional (7.5%) Occasional (29-5%) HP:0000193
26 aplasia/hypoplasia involving the nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0009924
27 absent nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0100596
28 misalignment of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000692
29 submucous cleft hard palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000176
30 abnormality of the midface 55 31 hallmark (90%) Very frequent (99-80%) HP:0000309
31 failure of eruption of permanent teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0006352
32 single naris 55 31 hallmark (90%) Very frequent (99-80%) HP:0009932
33 hypoplasia of the olfactory bulb 55 31 hallmark (90%) Very frequent (99-80%) HP:0040326
34 hearing impairment 31 occasional (7.5%) HP:0000365
35 dental malocclusion 31 occasional (7.5%) HP:0000689
36 corneal opacity 31 occasional (7.5%) HP:0007957
37 primary amenorrhea 31 HP:0000786
38 hypospadias 31 occasional (7.5%) HP:0000047
39 synophrys 31 occasional (7.5%) HP:0000664
40 hypoplastic labia majora 31 occasional (7.5%) HP:0000059
41 micropenis 31 HP:0000054
42 coloboma 31 HP:0000589
43 hypoplasia of teeth 31 occasional (7.5%) HP:0000685
44 external genital hypoplasia 55 Very frequent (99-80%)
45 agenesis of permanent teeth 31 occasional (7.5%) HP:0006349
46 cleft lip 31 occasional (7.5%) HP:0410030
47 aplasia of the nose 31 HP:0009927

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:

38
Eye, Bone, Testes, Olfactory Bulb, Retina

Publications for Bosma Arhinia Microphthalmia Syndrome

Articles related to Bosma Arhinia Microphthalmia Syndrome:

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

Variations for Bosma Arhinia Microphthalmia Syndrome

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

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

ClinVar genetic disease variations for Bosma Arhinia Microphthalmia Syndrome:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh38 Chromosome 18, 2694687: 2694687
2 SMCHD1 NM_015295.2(SMCHD1): c.1043A> G (p.His348Arg) single nucleotide variant Pathogenic rs1057519640 GRCh38 Chromosome 18, 2697034: 2697034
3 SMCHD1 NM_015295.2(SMCHD1): c.423G> C (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh38 Chromosome 18, 2667030: 2667030
4 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh38 Chromosome 18, 2697898: 2697898
5 SMCHD1 NM_015295.2(SMCHD1): c.408A> C (p.Glu136Asp) single nucleotide variant Pathogenic rs1057519643 GRCh38 Chromosome 18, 2667015: 2667015
6 SMCHD1 NM_015295.2(SMCHD1): c.410G> A (p.Gly137Glu) single nucleotide variant Pathogenic rs1057519644 GRCh37 Chromosome 18, 2667016: 2667016
7 SMCHD1 NM_015295.2(SMCHD1): c.403A> T (p.Ser135Cys) single nucleotide variant Pathogenic rs1057519645 GRCh38 Chromosome 18, 2667010: 2667010
8 SMCHD1 NM_015295.2(SMCHD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs1057519646 GRCh38 Chromosome 18, 2667011: 2667011
9 SMCHD1 NM_015295.2(SMCHD1): c.404G> T (p.Ser135Ile) single nucleotide variant Pathogenic rs1057519646 GRCh38 Chromosome 18, 2667011: 2667011
10 SMCHD1 NM_015295.2(SMCHD1): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs1135402737 GRCh38 Chromosome 18, 2666927: 2666927
11 SMCHD1 NM_015295.2(SMCHD1): c.386T> A (p.Met129Lys) single nucleotide variant Pathogenic rs1135402738 GRCh38 Chromosome 18, 2666993: 2666993
12 SMCHD1 NM_015295.2(SMCHD1): c.415A> C (p.Asn139His) single nucleotide variant Pathogenic rs1135402739 GRCh38 Chromosome 18, 2667022: 2667022
13 SMCHD1 NM_015295.2(SMCHD1): c.423G> T (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh38 Chromosome 18, 2667030: 2667030
14 SMCHD1 NM_015295.2(SMCHD1): c.511T> G (p.Phe171Val) single nucleotide variant Pathogenic rs1135402740 GRCh38 Chromosome 18, 2674018: 2674018
15 SMCHD1 NM_015295.2(SMCHD1): c.725C> G (p.Ala242Gly) single nucleotide variant Pathogenic rs1135402741 GRCh37 Chromosome 18, 2688478: 2688478
16 SMCHD1 NM_015295.2(SMCHD1): c.1259A> T (p.Asp420Val) single nucleotide variant Pathogenic rs1135402742 GRCh38 Chromosome 18, 2697958: 2697958
17 SMCHD1 NM_015295.2(SMCHD1): c.1417G> C (p.Glu473Gln) single nucleotide variant Pathogenic rs1135402743 GRCh38 Chromosome 18, 2700613: 2700613
18 SMCHD1 NM_015295.2(SMCHD1): c.1568C> A (p.Thr523Lys) single nucleotide variant Pathogenic rs1135402744 GRCh37 Chromosome 18, 2700837: 2700837
19 SMCHD1 NM_015295.2(SMCHD1): c.1571A> G (p.Asn524Ser) single nucleotide variant Pathogenic rs1135402745 GRCh37 Chromosome 18, 2700840: 2700840

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

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