BAMS
MCID: BSM002
MIFTS: 40

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 57 25 74
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism 57 25 74
Bams 57 25 74
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome 25 59
Arhinia, Choanal Atresia, and Microphthalmia 25 72
Arhinia Choanal Atresia Microphthalmia 25 74
Congenital Absence of Nose and Anterior Nasopharynx 74
Arrhinia-Choanal Atresia-Microphthalmia Syndrome 59
Bosma Arhinia-Microphthalmia Syndrome 59
Bosma Henkin Christiansen Syndrome 74
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:



External Ids:

OMIM 57 603457
MeSH 44 D000013
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1863878
MedGen 42 C1863878
UMLS 72 C1863878

Summaries for Bosma Arhinia Microphthalmia Syndrome

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. The key feature of BAMS is arhinia, which is the absence of an external nose. While most people with BAMS are born without a nose, some affected individuals have a severely underdeveloped (hypoplastic) nose. Affected individuals may also be missing the brain structure involved in the sense of smell (olfactory bulb). Because of these abnormalities, people with BAMS have an impaired ability to smell and, consequently, to taste. In most people with BAMS, the eyeballs are abnormally small (microphthalmia) or absent (anophthalmia), which causes severe vision impairment or blindness. Additional eye abnormalities common in BAMS include a gap or hole in one of several structures of the eye (coloboma) and clouding of the lenses of the eyes (cataracts). Additional head and face abnormalities that can occur in people with BAMS include a high arch or opening in the roof of the mouth (high-arched or cleft palate), absence of the sinuses behind the nose (paranasal sinuses), blockage of the nasal passages (choanal atresia), narrowing of the tear ducts (nasolacrimal duct stenosis), or a small upper jaw (hypoplastic maxilla). Many of these abnormalities contribute to difficulty breathing, particularly in affected babies. Some affected individuals have abnormal external ears. Individuals with BAMS also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, these hormone problems often result in delayed puberty. Affected males may also have underdeveloped reproductive tissues and undescended testes (cryptorchidism).

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 olfactory bulb, and related phenotypes are inguinal hernia and cataract

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 : 74 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 top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 arhinia choanal atresia microphthalmia 11.7
2 microphthalmia 10.9
3 muscular dystrophy 10.8
4 facioscapulohumeral muscular dystrophy 1 10.7
5 facioscapulohumeral muscular dystrophy 2 10.7
6 hypogonadotropic hypogonadism 10.6
7 hypogonadism 10.6
8 hypogonadotropism 10.6
9 leishmaniasis 10.5
10 kala-azar 1 10.5
11 cutaneous leishmaniasis 10.5
12 colobomatous microphthalmia 10.4
13 inguinal hernia 10.4
14 cryptorchidism, unilateral or bilateral 10.4
15 coloboma of macula 10.4
16 choanal atresia, posterior 10.4
17 hypertelorism 10.4
18 acute kidney failure 10.3
19 spinal cord injury 10.2
20 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
21 post-traumatic stress disorder 10.1
22 substance abuse 10.1
23 kidney disease 10.1
24 acute stress disorder 10.1
25 compartment syndrome 10.1
26 adult respiratory distress syndrome 10.1
27 lymphocytic leukemia 10.1
28 helix syndrome 10.1
29 leukemia, acute lymphoblastic 10.1
30 myeloma, multiple 10.1
31 burkitt lymphoma 10.1
32 gastroenteritis 9.9
33 vaccinia 9.9
34 plague 9.9
35 hypokalemia 9.9
36 familial retinoblastoma 9.9
37 herpes simplex 9.9
38 chickenpox 9.9
39 visceral leishmaniasis 9.9
40 irritable bowel syndrome 9.9
41 splenomegaly 9.9
42 pik3ca-related overgrowth syndrome 9.9
43 pneumothorax 9.9
44 thrombocytopenia 9.9
45 disease of mental health 9.9
46 leukemia 9.9
47 neutropenia 9.9
48 disseminated intravascular coagulation 9.9
49 thalassemia 9.9
50 mucositis 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

Human phenotypes related to Bosma Arhinia Microphthalmia Syndrome:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000023
2 cataract 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000518
3 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
4 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000568
5 anosmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000458
6 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
7 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
8 hyposmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004409
9 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
10 absent nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0100596
11 misalignment of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000692
12 abnormality of the midface 59 32 hallmark (90%) Very frequent (99-80%) HP:0000309
13 failure of eruption of permanent teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006352
14 single naris 59 32 hallmark (90%) Very frequent (99-80%) HP:0009932
15 hypoplasia of the olfactory bulb 59 32 hallmark (90%) Very frequent (99-80%) HP:0040326
16 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
17 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
18 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
19 abdominal wall muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009023
20 cleft palate 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000175
21 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
22 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
23 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
24 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
25 choanal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000453
26 anophthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000528
27 lacrimation abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000632
28 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
29 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
30 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
31 abnormality of the sense of smell 59 32 frequent (33%) Frequent (79-30%) HP:0004408
32 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
33 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
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 hypospadias 32 occasional (7.5%) HP:0000047
38 synophrys 32 occasional (7.5%) HP:0000664
39 hypoplastic labia majora 32 occasional (7.5%) HP:0000059
40 cleft lip 32 occasional (7.5%) HP:0410030
41 agenesis of permanent teeth 32 occasional (7.5%) HP:0006349
42 hypoplasia of teeth 32 occasional (7.5%) HP:0000685
43 primary amenorrhea 32 HP:0000786
44 micropenis 32 HP:0000054
45 coloboma 32 HP:0000589
46 external genital hypoplasia 59 Very frequent (99-80%)
47 aplasia of the nose 32 HP:0009927

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
Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

Head And Neck Nose:
anosmia
choanal atresia
arhinia

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility Recruiting NCT01511588

Search 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, Olfactory Bulb, Brain, Testes, Skeletal Muscle, Retina

Publications for Bosma Arhinia Microphthalmia Syndrome

Articles related to Bosma Arhinia Microphthalmia Syndrome:

(show top 50) (show all 150)
# Title Authors PMID Year
1
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 38 8 71
28067909 2017
2
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 38 8 71
28067911 2017
3
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. 38 8 71
26842768 2016
4
Bosma arhinia microphthalmia syndrome. 38 8 71
16353241 2006
5
Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. 8 71
26440771 2016
6
Congenital arhinia. 8 71
23852095 2014
7
Hypogonadotropic hypogonadism presenting with arhinia: a case report. 8 71
23432817 2013
8
Congenital absence of the nose: a case report and literature review. 8 71
11321738 2001
9
Familial arhinia, choanal atresia, and microphthalmia. 8 71
8723126 1996
10
Simultaneous construction of an internal and external nose in an infant with arhinia. 8 71
8446727 1993
11
Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. 8 71
6802865 1981
12
[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)]. 8 71
672092 1978
13
Congenital absence of the nose and anterior nasopharynx. Report of two cases. 8 71
5032329 1972
14
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 71
23143600 2012
15
Congenital arhinia: molecular-genetic analysis of five patients. 8
17304554 2007
16
Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2). 8
15372519 2004
17
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. 38
31243061 2019
18
A single-cell atlas of mouse brain macrophages reveals unique transcriptional identities shaped by ontogeny and tissue environment. 38
31061494 2019
19
Pseudomonas aeruginosa biofilm is a potent inducer of phagocyte hyperinflammation. 38
30887082 2019
20
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. 38
30698748 2019
21
Application of Trichoderma Strains and Metabolites Enhances Soybean Productivity and Nutrient Content. 38
30657682 2019
22
The evolution of functional complexity within the β-amylase gene family in land plants. 38
30819112 2019
23
High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology. 38
30510233 2018
24
Review: The Arabidopsis β-amylase (BAM) gene family: Diversity of form and function. 38
30348315 2018
25
Flexible Bronchoscopy Under Bronchoscopist-Administered Moderate Sedation Versus General Anesthesia: A Comparative Study in Children. 38
30279995 2018
26
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. 38
29980640 2018
27
Human tissue-engineered skeletal muscle: a novel 3D in vitro model for drug disposition and toxicity after intramuscular injection. 38
30111779 2018
28
[Resistin promotes the production of inflammatory factors in cultured bovine alveolar macrophages and its mechanism]. 38
30384863 2018
29
SVEngine: an efficient and versatile simulator of genome structural variations with features of cancer clonal evolution. 38
29982625 2018
30
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. 38
29748383 2018
31
Truncated BAM receptors interfere the apical meristematic activity in a dominant negative manner when ectopically expressed in Arabidopsis. 38
29606214 2018
32
Quaternary Structure, Salt Sensitivity, and Allosteric Regulation of β-AMYLASE2 From Arabidopsis thaliana. 38
30154813 2018
33
Platelet-rich plasma-based bioactive membrane as a new advanced wound care tool. 38
27863057 2018
34
Engineering of Human Skeletal Muscle With an Autologous Deposited Extracellular Matrix. 38
30177884 2018
35
Development and psychometric properties of the Basic Amputee Mobility Score for use in patients with a major lower extremity amputation. 38
28858422 2018
36
Development and field validation of a community-engaged particulate matter air quality monitoring network in Imperial, California, USA. 38
28829718 2017
37
Arabidopsis β-Amylase2 Is a K+-Requiring, Catalytic Tetramer with Sigmoidal Kinetics. 38
29066669 2017
38
Synthesis and Applications of Boronate Affinity Materials: From Class Selectivity to Biomimetic Specificity. 38
28849912 2017
39
Reliability and validity of the Beliefs About Medication Scale in pediatric inflammatory bowel disease. 38
29119807 2017
40
Ammonium Ionic Liquid Solubilities in Water and Micellar Formation. 38
28677969 2017
41
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 38
28546579 2017
42
The Epigenetic Regulator SMCHD1 in Development and Disease. 38
28222895 2017
43
A causal relationship between knowledge of Sanskrit language and results of Bachelor of Ayurvedic Medicine and Surgery examination: An analytical study. 38
29861594 2017
44
High performing solution-coated electrolyte-gated organic field-effect transistors for aqueous media operation. 38
28004824 2016
45
Anchoring PEG-oleate to cell membranes stimulates reactive oxygen species production. 38
27544656 2016
46
VariantBam: filtering and profiling of next-generational sequencing data using region-specific rules. 38
27153727 2016
47
Benzothiazole Amphiphiles Ameliorate Amyloid β-Related Cell Toxicity and Oxidative Stress. 38
27055069 2016
48
Topological organization of connectivity strength in the rat connectome. 38
25697666 2016
49
Application of Lateral and Distance Spacers in an Oligonucleotide Based Immobilization System for Bioactive Molecules onto Titanium Implants. 38
26779926 2016
50
Do Legal Issues Deserve Space in Specialty Medical Journals ? 38
27730795 2016

Variations for Bosma Arhinia Microphthalmia Syndrome

ClinVar genetic disease variations for Bosma Arhinia Microphthalmia Syndrome:

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

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

74 (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

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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