SMALED2B
MCID: SPN428
MIFTS: 22

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 57 74 29 6
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Autosomal Dominant 57 74
Smaled2b 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

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

OMIM : 57 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 macrocephaly

UniProtKB/Swiss-Prot : 74 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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 polymicrogyria 32 very rare (1%) HP:0002126
2 macrocephaly 32 HP:0000256
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 respiratory insufficiency due to muscle weakness 32 HP:0002747
6 micrognathia 32 HP:0000347
7 skeletal muscle atrophy 32 HP:0003202
8 feeding difficulties 32 HP:0011968
9 abnormality of the pinna 32 HP:0000377
10 ventriculomegaly 32 HP:0002119
11 cerebral cortical atrophy 32 HP:0002120
12 arthrogryposis multiplex congenita 32 HP:0002804
13 motor delay 32 HP:0001270
14 congenital hip dislocation 32 HP:0001374
15 talipes equinovarus 32 HP:0001762
16 cerebellar hypoplasia 32 HP:0001321
17 respiratory failure 32 HP:0002878
18 decreased fetal movement 32 HP:0001558
19 midface retrusion 32 HP:0011800
20 severe muscular hypotonia 32 HP:0006829
21 hypoplasia of the corpus callosum 32 HP:0002079
22 overlapping fingers 32 HP:0010557
23 hand clenching 32 HP:0001188

Symptoms via clinical synopsis from OMIM:

57
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,...

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

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 29 BICD2

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:

41
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 PMID Year
1
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 8 71
30054298 2018
2
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. 8 71
28635954 2017
3
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. 8 71
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 GRCh37 Pos GRCh38 Pos
1 BICD2 NM_001003800.2(BICD2): c.581A> G (p.Gln194Arg) single nucleotide variant Pathogenic 9:95484963-95484963 9:92722681-92722681
2 BICD2 NM_001003800.2(BICD2): c.1636_1638del (p.Asn546del) deletion Likely pathogenic rs1064795760 9:95481289-95481291 9:92719007-92719009
3 BICD2 NM_001003800.2(BICD2): c.2080C> T (p.Arg694Cys) single nucleotide variant Likely pathogenic rs797045412 9:95480847-95480847 9:92718565-92718565

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant:

74
# Symbol AA change Variation ID SNP ID
1 BICD2 p.Gln194Arg VAR_081854
2 BICD2 p.Cys542Trp VAR_081855
3 BICD2 p.Arg694Cys VAR_081857

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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73 UMLS via Orphanet
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