SMALED2B
MCID: SPN428
MIFTS: 21

Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant (SMALED2B)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

MalaCards integrated aliases for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant:

Name: Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 58 76 6
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Autosomal Dominant 58 76
Smaled2b 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in utero
death in infancy may occur


HPO:

33
spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant:
Onset and clinical course congenital onset


Classifications:



Summaries for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

OMIM : 58 SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by Storbeck et al., 2017) For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600). (618291)

MalaCards based summary : Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant, is also known as spinal muscular atrophy, lower extremity-predominant, 2b, autosomal dominant. An important gene associated with Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant is BICD2 (BICD Cargo Adaptor 2). Affiliated tissues include brain and skeletal muscle, and related phenotypes are polymicrogyria and scoliosis

UniProtKB/Swiss-Prot : 76 Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant: An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur.

Related Diseases for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

Symptoms & Phenotypes for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

Human phenotypes related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 polymicrogyria 33 very rare (1%) HP:0002126
2 scoliosis 33 HP:0002650
3 kyphosis 33 HP:0002808
4 respiratory insufficiency due to muscle weakness 33 HP:0002747
5 skeletal muscle atrophy 33 HP:0003202
6 micrognathia 33 HP:0000347
7 ventriculomegaly 33 HP:0002119
8 cerebral cortical atrophy 33 HP:0002120
9 arthrogryposis multiplex congenita 33 HP:0002804
10 motor delay 33 HP:0001270
11 talipes equinovarus 33 HP:0001762
12 cerebellar hypoplasia 33 HP:0001321
13 respiratory failure 33 HP:0002878
14 midface retrusion 33 HP:0011800
15 severe muscular hypotonia 33 HP:0006829
16 hypoplasia of the corpus callosum 33 HP:0002079
17 overlapping fingers 33 HP:0010557
18 hand clenching 33 HP:0001188

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Respiratory:
respiratory insufficiency due to muscle weakness
respiratory failure

Skeletal:
arthrogryposis multiplex congenita
joint contractures, severe
fractures in utero

Neurologic Central Nervous System:
cerebellar hypoplasia
enlarged ventricles
cortical atrophy
thin corpus callosum
delayed motor development, severe
more
Head And Neck Ears:
dysplastic ears

Abdomen Gastrointestinal:
poor feeding

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Face:
micrognathia
midface hypoplasia
dysmorphic features (in some patients)

Skeletal Pelvis:
congenital hip dislocation

Skeletal Hands:
overlapping fingers
clenched hands
ulnar deviation of the hands and fingers

Muscle Soft Tissue:
muscle atrophy
hypotonia, severe
increased fibrosis
lack of purposeful movements
fatty replacement of muscle tissue
more
Skeletal Feet:
foot deformities
equinovarus

Clinical features from OMIM:

618291

Drugs & Therapeutics for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant

Genetic Tests for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

Anatomical Context for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

MalaCards organs/tissues related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant:

42
Brain, Skeletal Muscle

Publications for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

Articles related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant:

# Title Authors Year
1
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. ( 30054298 )
2018
2
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. ( 28635954 )
2017
3
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. ( 27751653 )
2016

Variations for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

ClinVar genetic disease variations for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BICD2 NM_001003800.2(BICD2): c.2080C> T (p.Arg694Cys) single nucleotide variant Likely pathogenic rs797045412 GRCh37 Chromosome 9, 95480847: 95480847
2 BICD2 NM_001003800.2(BICD2): c.2080C> T (p.Arg694Cys) single nucleotide variant Likely pathogenic rs797045412 GRCh38 Chromosome 9, 92718565: 92718565
3 BICD2 NM_001003800.2(BICD2): c.1636_1638delAAT (p.Asn546del) deletion Likely pathogenic rs1064795760 GRCh38 Chromosome 9, 92719007: 92719009
4 BICD2 NM_001003800.2(BICD2): c.1636_1638delAAT (p.Asn546del) deletion Likely pathogenic rs1064795760 GRCh37 Chromosome 9, 95481289: 95481291
5 BICD2 NM_001003800.1(BICD2): c.581A> G (p.Gln194Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 95484963: 95484963
6 BICD2 NM_001003800.1(BICD2): c.581A> G (p.Gln194Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 92722681: 92722681

Expression for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant.

Pathways for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

GO Terms for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

Sources for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b,...

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