BABS
MCID: BCH004
MIFTS: 31

Bachmann-Bupp Syndrome (BABS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Bachmann-Bupp Syndrome

MalaCards integrated aliases for Bachmann-Bupp Syndrome:

Name: Bachmann-Bupp Syndrome 57 6
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 57 6
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities; Nedaba 57
Nedaba 57
Babs 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
bachmann-bupp syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bachmann-Bupp Syndrome

OMIM® : 57 Bachmann-Bupp syndrome (BABS) is a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, dysmorphic features, and characteristic neuroimaging features (summary by Rodan et al., 2018). (619075) (Updated 05-Mar-2021)

MalaCards based summary : Bachmann-Bupp Syndrome, also known as neurodevelopmental disorder with alopecia and brain abnormalities, is related to global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome and body dysmorphic disorder. An important gene associated with Bachmann-Bupp Syndrome is ODC1 (Ornithine Decarboxylase 1). The drugs Peppermint and Fennel have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone, and related phenotypes are ptosis and cerebral calcification

Related Diseases for Bachmann-Bupp Syndrome

Diseases related to Bachmann-Bupp Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome 11.3
2 body dysmorphic disorder 9.9
3 psychotic disorder 9.9

Symptoms & Phenotypes for Bachmann-Bupp Syndrome

Human phenotypes related to Bachmann-Bupp Syndrome:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 very rare (1%) HP:0000508
2 cerebral calcification 31 very rare (1%) HP:0002514
3 high palate 31 very rare (1%) HP:0000218
4 global developmental delay 31 very rare (1%) HP:0001263
5 hypertelorism 31 very rare (1%) HP:0000316
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 sensorineural hearing impairment 31 very rare (1%) HP:0000407
8 neonatal hypotonia 31 very rare (1%) HP:0001319
9 feeding difficulties in infancy 31 very rare (1%) HP:0008872
10 hypoglycemia 31 very rare (1%) HP:0001943
11 cryptorchidism 31 very rare (1%) HP:0000028
12 dry skin 31 very rare (1%) HP:0000958
13 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
14 downslanted palpebral fissures 31 very rare (1%) HP:0000494
15 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
16 polyhydramnios 31 very rare (1%) HP:0001561
17 thin upper lip vermilion 31 very rare (1%) HP:0000219
18 deeply set eye 31 very rare (1%) HP:0000490
19 sparse scalp hair 31 very rare (1%) HP:0002209
20 high forehead 31 very rare (1%) HP:0000348
21 blepharophimosis 31 very rare (1%) HP:0000581
22 decreased fetal movement 31 very rare (1%) HP:0001558
23 large for gestational age 31 very rare (1%) HP:0001520
24 hyperbilirubinemia 31 very rare (1%) HP:0002904
25 cupped ear 31 very rare (1%) HP:0000378
26 sparse eyelashes 31 very rare (1%) HP:0000653
27 aggressive behavior 31 very rare (1%) HP:0000718
28 generalized hypotonia 31 very rare (1%) HP:0001290
29 small nail 31 very rare (1%) HP:0001792
30 lower limb spasticity 31 very rare (1%) HP:0002061
31 absent eyebrow 31 very rare (1%) HP:0002223
32 dysgenesis of the cerebellar vermis 31 very rare (1%) HP:0002195
33 macrocephaly at birth 31 very rare (1%) HP:0004488
34 perivascular spaces 31 very rare (1%) HP:0012520
35 delayed ability to walk 31 very rare (1%) HP:0031936
36 periventricular cysts 31 very rare (1%) HP:0007109
37 keratosis pilaris 31 very rare (1%) HP:0032152
38 focal polymicrogyria 31 very rare (1%) HP:0032471

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
short corpus callosum
developmental delay
lower extremity spasticity (1 patient)
hypotonia: aggressive behavior (in some patients)
periventricular cysts seen on brain mri
more
Neurologic Behavioral Psychiatric Manifestations:
adhd (in some patients)

Laboratory Abnormalities:
elevated rbc putrescine elevated plasma n-acetylputrescine

Head And Neck Eyes:
hypertelorism
sparse eyelashes
ptosis: blepharophimosis
delayed visual maturation (1 patient)

Skin Nails Hair Hair:
alopecia
sparse scalp hair
sparse eyebrows
absent eyebrows

Head And Neck Face:
high forehead

Prenatal Manifestations Movement:
decreased fetal activity

Head And Neck Ears:
unilateral sensorineural hearing loss (1 patient)
cupped ears (1 patient)

Clinical features from OMIM®:

619075 (Updated 05-Mar-2021)

Drugs & Therapeutics for Bachmann-Bupp Syndrome

Drugs for Bachmann-Bupp Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peppermint Approved
2
Fennel Approved, Experimental
3 Acidophilus
4 Anise
5 Immunoglobulins
6 interferons
7 Antibodies
8 Antibodies, Blocking

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective Randomized Controlled Study: Lactobacillus Reuteri Versus Herbal Drop in the Treatment of Infantile Colic Completed NCT01855269
2 A Randomized, Controlled, Open-Label Parallel Group Study to Evaluate the Effect of Regularly Scheduled Neutralizing Antibody Testing on Treatment Patterns Versus Usual Care in High-Dose Interferon Treated Patients Completed NCT00336557
3 Microbiome And Multi'Omics In Preterm Birth: The Bacteria And Birth Study (BaBs) Active, not recruiting NCT02392650

Search NIH Clinical Center for Bachmann-Bupp Syndrome

Genetic Tests for Bachmann-Bupp Syndrome

Anatomical Context for Bachmann-Bupp Syndrome

MalaCards organs/tissues related to Bachmann-Bupp Syndrome:

40
Brain, Eye, Bone, Heart, Liver

Publications for Bachmann-Bupp Syndrome

Articles related to Bachmann-Bupp Syndrome:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. 57 6
30239107 2018
2
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. 57
30475435 2018
3
Bispecific antibodies: a novel approach for targeting prominent biomarkers. 61
32614706 2020
4
An evaluation of intensity of delusional belief in patients with delusional infestation pre- and post-treatment in a specialist psychodermatology center. 61
30270706 2020
5
Prominent autistic traits and subthreshold bipolar/mixed features of depression in severe anorexia nervosa. 61
31691722 2020
6
Event-related EEG oscillations in body dysmorphic disorder. 61
31995842 2020
7
Optical properties and source identification of black carbon and brown carbon: comparison of winter and summer haze episodes in Xi'an, Northwest China. 61
31701994 2019
8
Overlap of obsessive-compulsive personality disorder and autism spectrum disorder traits among OCD outpatients: an exploratory study. 61
31375037 2019
9
Comparative Evaluation of the Book-Type Acellular Bone Scaffold and Fibrocartilage Scaffold for Bone-Tendon Healing. 61
30977542 2019
10
Brown carbon in the continental outflow to the North Indian Ocean. 61
31089643 2019
11
Application of a transdiagnostic treatment for emotional disorders to body dysmorphic disorder: A randomized controlled trial. 61
30445389 2019
12
Associations of cortical thickness, surface area and subcortical volumes with insight in drug-naïve adults with obsessive-compulsive disorder. 61
31704545 2019
13
Are Mentalizing Abilities and Insight Related to the Severity of Obsessive-Compulsive Disorder. 61
30122030 2018
14
Morphological characterization of pulmonary microvascular disease in bronchopulmonary dysplasia caused by hyperoxia in newborn mice. 61
29362947 2018
15
Multi-centre phase IV trial to investigate the immunogenicity of a new liquid formulation of recombinant human growth hormone in adults with growth hormone deficiency. 61
29488103 2018
16
Influence of Pre-existing Anti-capsid Neutralizing and Binding Antibodies on AAV Vector Transduction. 61
29766022 2018
17
The relationship between theory of mind and insight in obsessive-compulsive disorder. 61
29426262 2018
18
Anti-Interferon Alpha Antibodies in Patients with High-Risk BCR/ABL-Negative Myeloproliferative Neoplasms Treated with Recombinant Human Interferon-α. 61
29693647 2018
19
Religiosity and religious delusions in schizophrenia - An observational study in a Hindu population. 61
29202427 2018
20
Insight in body dysmorphic disorder (BDD) relative to obsessive-compulsive disorder (OCD) and psychotic disorders: Revisiting this issue in light of DSM-5. 61
28651226 2017
21
Carbohydrate Bis-acetal-Based Substrates as Tunable Fluorescence-Quenched Probes for Monitoring exo-Glycosidase Activity. 61
28631482 2017
22
New drugs, new toxicities: severe side effects of modern targeted and immunotherapy of cancer and their management. 61
28407743 2017
23
Gambling behavior among Macau college and university students. 61
28435769 2017
24
The cross-reactivity of binding antibodies with different interferon beta formulations used as disease-modifying drugs in multiple sclerosis patients. 61
27828855 2016
25
Incidence, characterization, and clinical impact analysis of peginterferon beta1a immunogenicity in patients with multiple sclerosis in the ADVANCE trial. 61
27366230 2016
26
Optical properties of PM2.5 and the impacts of chemical compositions in the coastal city Xiamen in China. 61
27037888 2016
27
The Impact of Vitamin D, Calcium, Protein Supplementation, and Physical Exercise on Bone Metabolism After Bariatric Surgery: The BABS Study. 61
26350034 2016
28
Optical and thermal characteristics of carbonaceous aerosols measured at an urban site in Gwangju, Korea, in the winter of 2011. 61
26452763 2016
29
An intensive study on aerosol optical properties and affecting factors in Nanjing, China. 61
26969543 2016
30
The Impact of Methylprednisolone Pulses during Relapses of Multiple Sclerosis on the Kinetics of Anti-Interferon-Beta Antibodies. 61
26867030 2016
31
The Impact of a Volunteer Postpartum Doula Program on Breastfeeding Success: A Case Study. 61
25900845 2015
32
Human alpha-fetal protein immunoassay using fluorescence suppression with fluorescent-bead/antibody conjugate and enzymatic reaction. 61
25897880 2015
33
Simulations of site-specific target-mediated pharmacokinetic models for guiding the development of bispecific antibodies. 61
25559227 2015
34
The German version of the Brown Assessment of Beliefs Scale (BABS): Development and evaluation of its psychometric properties. 61
25104611 2014
35
A study of poor insight in social anxiety disorder. 61
24972547 2014
36
Psychopathology and quality of life among patients with comorbidity between schizophrenia spectrum disorder and obsessive-compulsive disorder: no evidence for a "schizo-obsessive" subtype. 61
24794642 2014
37
Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development. 61
24009164 2014
38
Antibodies against interferon-beta in neuromyelitis optica patients. 61
24477087 2014
39
Guidelines on the clinical use for the detection of neutralizing antibodies (NAbs) to IFN beta in multiple sclerosis therapy: report from the Italian Multiple Sclerosis Study group. 61
24374787 2014
40
BAb and MxA as functional biomarkers in routine clinical laboratories for the determination of anti-IFN-beta antibodies and their bioactivity levels in multiple sclerosis patients. 61
24547871 2014
41
Breastfeeding initiation and duration in first-time mothers: exploring the impact of father involvement in the early post-partum period. 61
25649998 2014
42
Characterization of carbonaceous aerosols over Delhi in Ganga basin: seasonal variability and possible sources. 61
24728570 2014
43
Efficacy of cognitive behaviour therapy versus anxiety management for body dysmorphic disorder: a randomised controlled trial. 61
25323062 2014
44
Antibodies to interferon beta in patients with multiple sclerosis receiving CinnoVex, rebif, and betaferon. 61
24339712 2013
45
Psychometric evaluation of the Brown Assessment of Beliefs Scale in body dysmorphic disorder. 61
23817164 2013
46
Mentoring through teamwork: lessons learned. 61
23901620 2013
47
Serum levels of IL-17A in patients with relapsing-remitting multiple sclerosis treated with interferon-β. 61
23207971 2013
48
Correlates of insight into different symptom dimensions in obsessive-compulsive disorder. 61
23376865 2013
49
Delusionality of body image beliefs in eating disorders. 61
22494704 2012
50
A comparison of insight in body dysmorphic disorder and obsessive-compulsive disorder. 61
22819678 2012

Variations for Bachmann-Bupp Syndrome

ClinVar genetic disease variations for Bachmann-Bupp Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ODC1 NM_002539.3(ODC1):c.1241+1G>T SNV Pathogenic 983285 2:10581634-10581634 2:10441508-10441508
2 ODC1 NM_002539.3(ODC1):c.1240_1241dup (p.Trp414fs) Duplication Pathogenic 983286 2:10581634-10581635 2:10441508-10441509
3 ODC1 NM_002539.3(ODC1):c.1255C>T (p.Gln419Ter) SNV Pathogenic 983287 2:10580981-10580981 2:10440855-10440855
4 ODC1 NM_001287190.1:c.1242_1263del22 Deletion Pathogenic 983288 2:10580973-10580994 2:10440847-10440868
5 ODC1 NM_002539.3(ODC1):c.1342A>T (p.Lys448Ter) SNV Pathogenic 983289 2:10580894-10580894 2:10440768-10440768
6 ODC1 NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs) Deletion Likely pathogenic 978044 2:10580920-10580923 2:10440794-10440797

Expression for Bachmann-Bupp Syndrome

Search GEO for disease gene expression data for Bachmann-Bupp Syndrome.

Pathways for Bachmann-Bupp Syndrome

GO Terms for Bachmann-Bupp Syndrome

Sources for Bachmann-Bupp Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....