MCID: BSM002
MIFTS: 35

Bosma Arhinia Microphthalmia Syndrome

Categories: Genetic diseases, Reproductive diseases, Smell/Taste 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 57 25 75
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism 57 25 75
Bams 57 25 75
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome 25 59
Arhinia, Choanal Atresia, and Microphthalmia 25 73
Arhinia Choanal Atresia Microphthalmia 25 75
Congenital Absence of Nose and Anterior Nasopharynx 75
Arrhinia-Choanal Atresia-Microphthalmia Syndrome 59
Bosma Arhinia-Microphthalmia Syndrome 59
Bosma Henkin Christiansen Syndrome 75
Bosma-Henkin-Christiansen Syndrome 59
Ruprecht Majewski Syndrome 25
Gifford-Bosma Syndrome 25
Bosma Syndrome 25
Bam Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
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. 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 hypertelorism and high palate

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.

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 10.7
3 muscular dystrophy 10.4
4 cutaneous leishmaniasis 10.3
5 leishmaniasis 10.3
6 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:

57
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
GenitourinaryInternal GenitaliaMale:
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)

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 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

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:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 inguinal hernia 59 32 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000023
4 cataract 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000518
5 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
6 abdominal wall muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009023
7 cleft palate 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000175
8 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
9 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
10 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
11 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000568
12 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
13 choanal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000453
14 lacrimation abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000632
15 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
16 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
17 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
18 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
19 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
20 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
21 abnormality of the sense of smell 59 32 frequent (33%) Frequent (79-30%) HP:0004408
22 anophthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000528
23 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
24 anosmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000458
25 hyposmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004409
26 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
27 absent nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0100596
28 misalignment of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000692
29 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
30 abnormality of the midface 59 32 hallmark (90%) Very frequent (99-80%) HP:0000309
31 failure of eruption of permanent teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006352
32 single naris 59 32 hallmark (90%) Very frequent (99-80%) HP:0009932
33 hypoplasia of the olfactory bulb 59 32 hallmark (90%) Very frequent (99-80%) HP:0040326
34 hearing impairment 32 occasional (7.5%) HP:0000365
35 dental malocclusion 32 occasional (7.5%) HP:0000689
36 corneal opacity 32 occasional (7.5%) HP:0007957
37 primary amenorrhea 32 HP:0000786
38 hypospadias 32 occasional (7.5%) HP:0000047
39 synophrys 32 occasional (7.5%) HP:0000664
40 hypoplastic labia majora 32 occasional (7.5%) HP:0000059
41 micropenis 32 HP:0000054
42 coloboma 32 HP:0000589
43 hypoplasia of teeth 32 occasional (7.5%) HP:0000685
44 external genital hypoplasia 59 Very frequent (99-80%)
45 agenesis of permanent teeth 32 occasional (7.5%) HP:0006349
46 cleft lip 32 occasional (7.5%) HP:0410030
47 aplasia of the nose 32 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:

41
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:

75 (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 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 GRCh37 Chromosome 18, 2667016: 2667016
14 SMCHD1 NM_015295.2(SMCHD1): c.410G> A (p.Gly137Glu) single nucleotide variant Pathogenic rs1057519644 GRCh38 Chromosome 18, 2667017: 2667017
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.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs1135402737 GRCh38 Chromosome 18, 2666927: 2666927
22 SMCHD1 NM_015295.2(SMCHD1): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs1135402737 GRCh37 Chromosome 18, 2666926: 2666926
23 SMCHD1 NM_015295.2(SMCHD1): c.386T> A (p.Met129Lys) single nucleotide variant Pathogenic rs1135402738 GRCh38 Chromosome 18, 2666993: 2666993
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

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