SMABF2
MCID: SPN380
MIFTS: 26

Spinal Muscular Atrophy with Congenital Bone Fractures 2 (SMABF2)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy with Congenital Bone Fractures 2

MalaCards integrated aliases for Spinal Muscular Atrophy with Congenital Bone Fractures 2:

Name: Spinal Muscular Atrophy with Congenital Bone Fractures 2 57 72 29 6
Smabf2 57 72
Atrophy, Muscular, Spinal, with Congenital Bone Fractures, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in the first days or months of life


HPO:

31
spinal muscular atrophy with congenital bone fractures 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Spinal Muscular Atrophy with Congenital Bone Fractures 2

OMIM® : 57 Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866). (616867) (Updated 05-Apr-2021)

MalaCards based summary : Spinal Muscular Atrophy with Congenital Bone Fractures 2, also known as smabf2, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Spinal Muscular Atrophy with Congenital Bone Fractures 2 is ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1). Affiliated tissues include bone, spinal cord and heart, and related phenotypes are dysphagia and muscle weakness

UniProtKB/Swiss-Prot : 72 Spinal muscular atrophy with congenital bone fractures 2: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.

Related Diseases for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Diseases in the Spinal Muscular Atrophy with Congenital Bone Fractures 1 family:

Spinal Muscular Atrophy with Congenital Bone Fractures 2

Diseases related to Spinal Muscular Atrophy with Congenital Bone Fractures 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 10.3
2 muscular atrophy 10.3
3 hypotonia 10.3
4 distal arthrogryposis 9.9
5 congenital amyoplasia 9.9

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy with Congenital Bone Fractures 2:



Diseases related to Spinal Muscular Atrophy with Congenital Bone Fractures 2

Symptoms & Phenotypes for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Human phenotypes related to Spinal Muscular Atrophy with Congenital Bone Fractures 2:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 very rare (1%) HP:0002015
2 muscle weakness 31 very rare (1%) HP:0001324
3 global developmental delay 31 very rare (1%) HP:0001263
4 neonatal respiratory distress 31 very rare (1%) HP:0002643
5 polyhydramnios 31 very rare (1%) HP:0001561
6 patent ductus arteriosus 31 very rare (1%) HP:0001643
7 areflexia 31 very rare (1%) HP:0001284
8 decreased fetal movement 31 very rare (1%) HP:0001558
9 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
10 premature birth 31 very rare (1%) HP:0001622
11 severe muscular hypotonia 31 very rare (1%) HP:0006829
12 pulmonary hypoplasia 31 very rare (1%) HP:0002089
13 abnormal cortical gyration 31 very rare (1%) HP:0002536
14 patent foramen ovale 31 very rare (1%) HP:0001655
15 multiple prenatal fractures 31 very rare (1%) HP:0005855
16 respiratory failure 31 HP:0002878
17 generalized hypotonia 31 HP:0001290
18 increased variability in muscle fiber diameter 31 HP:0003557
19 peripheral axonal neuropathy 31 HP:0003477
20 axonal loss 31 HP:0003447
21 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
lack of spontaneous movements
spinal muscular atrophy (family a)
alpha-motoneuron degeneration in the spinal cord (family a)
abnormal cortical gyration (family a)

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
microretrognathia
myopathic facies

Skeletal Hands:
camptodactyly
clenched fists

Cardiovascular Heart:
patent foramen ovale
congenital heart defects, mild (in some patients)

Skeletal Feet:
club feet

Chest Ribs Sternum Clavicles And Scapulae:
thin gracile ribs
abnormal bony maturation of the sternum
thin gracile clavicles

Abdomen Gastrointestinal:
poor feeding due to hypotonia

Skeletal Limbs:
fractures, congenital, of the long bones

Skeletal Spine:
increased height of the vertebral bodies

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal hydrops (1 patient)

Neurologic Peripheral Nervous System:
areflexia
axonal neuropathy (family a)
unmyelinated axonal loss (family a)

Respiratory Lung:
pulmonary hypoplasia

Muscle Soft Tissue:
muscle fiber atrophy
hypotonia, generalized, severe
muscles do not contract upon electrical stimulation
muscle fiber immaturity
muscle fiber size variation
more
Head And Neck Mouth:
high-arched palate
tented mouth

Prenatal Manifestations Movement:
fetal hypokinesia
decreased fetal movements

Respiratory:
respiratory distress due to hypotonia

Skeletal:
arthrogryposis, distal and proximal
abnormal ossification

Head And Neck Teeth:
abnormal bony maturation of the teeth

Clinical features from OMIM®:

616867 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Genetic Tests for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Genetic tests related to Spinal Muscular Atrophy with Congenital Bone Fractures 2:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy with Congenital Bone Fractures 2 29 ASCC1

Anatomical Context for Spinal Muscular Atrophy with Congenital Bone Fractures 2

MalaCards organs/tissues related to Spinal Muscular Atrophy with Congenital Bone Fractures 2:

40
Bone, Spinal Cord, Heart

Publications for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Articles related to Spinal Muscular Atrophy with Congenital Bone Fractures 2:

# Title Authors PMID Year
1
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. 61 57 6
31880396 2020
2
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. 57 6
30327447 2019
3
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. 6 57
28218388 2017
4
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. 6 57
26924529 2016
5
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship. 61
32160656 2020

Variations for Spinal Muscular Atrophy with Congenital Bone Fractures 2

ClinVar genetic disease variations for Spinal Muscular Atrophy with Congenital Bone Fractures 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASCC1 NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter) SNV Pathogenic 801334 rs183415577 GRCh37: 10:73956676-73956676
GRCh38: 10:72196918-72196918
2 ASCC1 NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter) SNV Pathogenic 801335 rs866050664 GRCh37: 10:73956730-73956730
GRCh38: 10:72196972-72196972
3 ASCC1 NM_001198800.3:c.(?_490)_(957_?)del Deletion Pathogenic 801336 GRCh37: 10:73887840-73921432
GRCh38:
4 ASCC1 NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter) SNV Pathogenic 801337 rs1389098934 GRCh37: 10:73887854-73887854
GRCh38: 10:72128096-72128096
5 ASCC1 NM_001198800.3(ASCC1):c.626+1G>A SNV Pathogenic 619021 rs747595523 GRCh37: 10:73921295-73921295
GRCh38: 10:72161537-72161537
6 ASCC1 NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) Duplication Pathogenic 224639 rs753324947 GRCh37: 10:73970544-73970545
GRCh38: 10:72210786-72210787
7 ASCC1 NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter) SNV Pathogenic 1029240 GRCh37: 10:73892902-73892902
GRCh38: 10:72133144-72133144
8 ASCC1 NM_001198800.3(ASCC1):c.107A>G (p.Tyr36Cys) SNV Uncertain significance 714485 rs145940742 GRCh37: 10:73972950-73972950
GRCh38: 10:72213192-72213192
9 ASCC1 NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) SNV Benign 31129 rs146370051 GRCh37: 10:73892817-73892817
GRCh38: 10:72133059-72133059

Expression for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Search GEO for disease gene expression data for Spinal Muscular Atrophy with Congenital Bone Fractures 2.

Pathways for Spinal Muscular Atrophy with Congenital Bone Fractures 2

GO Terms for Spinal Muscular Atrophy with Congenital Bone Fractures 2

Sources for Spinal Muscular Atrophy with Congenital Bone Fractures 2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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