MCID: BSM002
MIFTS: 30

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 54 25 71
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism 25 71
Arhinia, Choanal Atresia, and Microphthalmia 25 69
Arhinia Choanal Atresia Microphthalmia 25 71
Bams 25 71
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome 56
Congenital Absence of Nose and Anterior Nasopharynx 71
Arrhinia-Choanal Atresia-Microphthalmia Syndrome 56
Bosma Arhinia-Microphthalmia Syndrome 56
Bosma Henkin Christiansen Syndrome 71
Bosma-Henkin-Christiansen Syndrome 56
Ruprecht Majewski Syndrome 25
Gifford-Bosma Syndrome 25
Bosma Syndrome 25
Bam Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant

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


Classifications:



Summaries for Bosma Arhinia Microphthalmia Syndrome

OMIM : 54
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, and has symptoms including hypertelorism, choanal atresia and cleft palate. 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 retina.

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.

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:

id Related Disease Score Top Affiliating Genes
1 arhinia choanal atresia microphthalmia 11.2
2 microphthalmia 10.5
3 muscular dystrophy 10.3
4 cutaneous leishmaniasis 10.1
5 leishmaniasis 10.1
6 retinoblastoma 9.8

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:

54

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

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
Head And Neck- Face:
midface hypoplasia

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

Genitourinary:
hypogonadotropic hypogonadism

Skeletal- Skull:
hypoplastic maxilla
absent nasal bones
absent nasal spine of frontal bone
absent vomer
absent nasal conchae
more
Head And Neck- Teeth:
missing teeth (in some patients)
malocclusion (in some patients)
crowded dentition (in some patients)
hypoplastic teeth (in some patients)

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

Skeletal:
decreased bone mineralization (in some patients)

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

Head And Neck- Nose:
choanal atresia
anosmia
arhinia

Genitourinary- Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hypogonadotropic hypogonadism
low testosterone levels
low follicle stimulating hormone (fsh) levels
low luteinizing hormone (lh) levels
low estrogen levels

Genitourinary- Internal Genitalia Female:
primary amenorrhea

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

Chest- Breasts:
absent thelarche (in some patients)

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


Clinical features from OMIM:

603457

Human phenotypes related to Bosma Arhinia Microphthalmia Syndrome:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
2 choanal atresia 56 32 frequent (33%) Frequent (79-30%) HP:0000453
3 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
4 microphthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000568
5 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
6 midface retrusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0011800
7 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
8 hypogonadotrophic hypogonadism 56 32 frequent (33%) Frequent (79-30%) HP:0000044
9 lacrimation abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000632
10 reduced number of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0009804
11 abnormality of the sense of smell 56 32 frequent (33%) Frequent (79-30%) HP:0004408
12 aplasia/hypoplasia involving the nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0009924
13 hypogonadism 32 HP:0000135
14 hyposmia 32 HP:0004409
15 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:

39
Eye, Bone, Retina, Olfactory Bulb

Publications for Bosma Arhinia Microphthalmia Syndrome

Articles related to Bosma Arhinia Microphthalmia Syndrome:

id Title Authors Year
1
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. ( 28067911 )
2017
2
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28067909 )
2017
3
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28546579 )
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)
id 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

ClinVar genetic disease variations for Bosma Arhinia Microphthalmia Syndrome:

6 (show all 19)
id 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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