MCID: ATS418
MIFTS: 12

Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Spinal Muscular Atrophy, Lower...

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

Name: Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 54
Spinal Muscular Atrophy, Lower Extremity Predominant 2, Autosomal Dominant 30 6
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures 54
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy with Contractures 54
Atrophy, Muscular, Spinal, Lower Extremity Predominant, Type 2, Autosomal Dominant 41
Spinal Muscular Atrophy, Lower Extremity-Predominant 2, Autosomal Dominant 54
Smaled2 54

Classifications:



Summaries for Autosomal Dominant Spinal Muscular Atrophy, Lower...

NIH Rare Diseases : 54 Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2) is a rare neurological disease characterized by early-childhood onset of muscle weakness and loss of muscle tissue (muscle atrophy), mostly affecting the muscles of the thighs. It is a subtype of the group of diseases known as spinal muscular atrophy. Symptoms include delayed walking, waddling gait, difficulty walking, foot deformities, and loss of some reflexes. Joint contractures are reported frequently, and a few patients present with congenital hip dysplasia. Other symptoms that have being described are an exaggerated curvature of the lower back (hyperlordosis), increased or decreased muscle tone, small chin (micrognathia), respiratory insufficiency, small head (microcephaly), and extra ridges or folds in the brain surface (polymicrogyria).  Sensation and cognitive function are normal in most cases. Many patients show evident atrophy of the lower limbs and a very broad upper body, which resembles a bodybuilder-like shape. The disease has very slow progression throughout life. It is caused by mutations in the BICD2 gene. Inheritance is autosomal dominant. There is no cure and treatment is directed to the symptoms present in each individual patient.

MalaCards based summary : Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2, also known as spinal muscular atrophy, lower extremity predominant 2, autosomal dominant, is related to spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant and spinal muscular atrophy with lower extremity predominance, and has symptoms including waddling gait An important gene associated with Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 is BICD2 (BICD Cargo Adaptor 2). Affiliated tissues include brain.

Related Diseases for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Diseases in the Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant family:

Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2

Diseases related to Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 11.9
2 spinal muscular atrophy with lower extremity predominance 11.7

Symptoms & Phenotypes for Autosomal Dominant Spinal Muscular Atrophy, Lower...

UMLS symptoms related to Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2:


waddling gait

Drugs & Therapeutics for Autosomal Dominant Spinal Muscular Atrophy, Lower...

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

Genetic Tests for Autosomal Dominant Spinal Muscular Atrophy, Lower...

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

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Lower Extremity Predominant 2, Autosomal Dominant 30 BICD2

Anatomical Context for Autosomal Dominant Spinal Muscular Atrophy, Lower...

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

42
Brain

Publications for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Variations for Autosomal Dominant Spinal Muscular Atrophy, Lower...

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

6 (show top 50) (show all 184)
# 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_001003800.1(BICD2): c.320C> T (p.Ser107Leu) single nucleotide variant Pathogenic rs398123028 GRCh37 Chromosome 9, 95491439: 95491439
4 BICD2 NM_001003800.1(BICD2): c.320C> T (p.Ser107Leu) single nucleotide variant Pathogenic rs398123028 GRCh38 Chromosome 9, 92729157: 92729157
5 BICD2 NM_001003800.1(BICD2): c.2108C> T (p.Thr703Met) single nucleotide variant Pathogenic/Likely pathogenic rs371707778 GRCh37 Chromosome 9, 95480229: 95480229
6 BICD2 NM_001003800.1(BICD2): c.2108C> T (p.Thr703Met) single nucleotide variant Pathogenic/Likely pathogenic rs371707778 GRCh38 Chromosome 9, 92717947: 92717947
7 BICD2 NM_015250.3(BICD2): c.563A> C (p.Asn188Thr) single nucleotide variant Pathogenic rs398123029 GRCh37 Chromosome 9, 95484981: 95484981
8 BICD2 NM_015250.3(BICD2): c.563A> C (p.Asn188Thr) single nucleotide variant Pathogenic rs398123029 GRCh38 Chromosome 9, 92722699: 92722699
9 BICD2 NM_001003800.1(BICD2): c.2321A> G (p.Glu774Gly) single nucleotide variant Pathogenic rs398123030 GRCh37 Chromosome 9, 95477683: 95477683
10 BICD2 NM_001003800.1(BICD2): c.2321A> G (p.Glu774Gly) single nucleotide variant Pathogenic rs398123030 GRCh38 Chromosome 9, 92715401: 92715401
11 BICD2 NM_015250.3(BICD2): c.1523A> C (p.Lys508Thr) single nucleotide variant Pathogenic rs398123031 GRCh37 Chromosome 9, 95481404: 95481404
12 BICD2 NM_015250.3(BICD2): c.1523A> C (p.Lys508Thr) single nucleotide variant Pathogenic rs398123031 GRCh38 Chromosome 9, 92719122: 92719122
13 BICD2 NM_015250.3(BICD2): c.1502G> C (p.Arg501Pro) single nucleotide variant Pathogenic rs398123032 GRCh37 Chromosome 9, 95481425: 95481425
14 BICD2 NM_015250.3(BICD2): c.1502G> C (p.Arg501Pro) single nucleotide variant Pathogenic rs398123032 GRCh38 Chromosome 9, 92719143: 92719143
15 BICD2 NM_001003800.1(BICD2): c.269A> G (p.Lys90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61754130 GRCh37 Chromosome 9, 95491490: 95491490
16 BICD2 NM_001003800.1(BICD2): c.269A> G (p.Lys90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61754130 GRCh38 Chromosome 9, 92729208: 92729208
17 BICD2 NM_001003800.1(BICD2): c.2142G> C (p.Lys714Asn) single nucleotide variant Uncertain significance rs777986224 GRCh37 Chromosome 9, 95480195: 95480195
18 BICD2 NM_001003800.1(BICD2): c.2142G> C (p.Lys714Asn) single nucleotide variant Uncertain significance rs777986224 GRCh38 Chromosome 9, 92717913: 92717913
19 BICD2 NM_001003800.1(BICD2): c.1044G> A (p.Leu348=) single nucleotide variant Benign/Likely benign rs77530912 GRCh37 Chromosome 9, 95482600: 95482600
20 BICD2 NM_001003800.1(BICD2): c.1044G> A (p.Leu348=) single nucleotide variant Benign/Likely benign rs77530912 GRCh38 Chromosome 9, 92720318: 92720318
21 BICD2 NM_001003800.1(BICD2): c.2445G> A (p.Pro815=) single nucleotide variant Benign/Likely benign rs34451610 GRCh37 Chromosome 9, 95477559: 95477559
22 BICD2 NM_001003800.1(BICD2): c.2445G> A (p.Pro815=) single nucleotide variant Benign/Likely benign rs34451610 GRCh38 Chromosome 9, 92715277: 92715277
23 BICD2 NM_001003800.1(BICD2): c.1620C> T (p.His540=) single nucleotide variant Likely benign rs375331979 GRCh37 Chromosome 9, 95481307: 95481307
24 BICD2 NM_001003800.1(BICD2): c.1620C> T (p.His540=) single nucleotide variant Likely benign rs375331979 GRCh38 Chromosome 9, 92719025: 92719025
25 BICD2 NM_001003800.1(BICD2): c.1250A> G (p.Asp417Gly) single nucleotide variant Uncertain significance rs55658812 GRCh37 Chromosome 9, 95481677: 95481677
26 BICD2 NM_001003800.1(BICD2): c.1250A> G (p.Asp417Gly) single nucleotide variant Uncertain significance rs55658812 GRCh38 Chromosome 9, 92719395: 92719395
27 BICD2 NM_001003800.1(BICD2): c.1806G> A (p.Thr602=) single nucleotide variant Benign/Likely benign rs138300993 GRCh37 Chromosome 9, 95481121: 95481121
28 BICD2 NM_001003800.1(BICD2): c.1806G> A (p.Thr602=) single nucleotide variant Benign/Likely benign rs138300993 GRCh38 Chromosome 9, 92718839: 92718839
29 BICD2 NM_001003800.1(BICD2): c.72C> G (p.Ala24=) single nucleotide variant Benign/Likely benign rs545512590 GRCh37 Chromosome 9, 95526955: 95526955
30 BICD2 NM_001003800.1(BICD2): c.72C> G (p.Ala24=) single nucleotide variant Benign/Likely benign rs545512590 GRCh38 Chromosome 9, 92764673: 92764673
31 BICD2 NM_001003800.1(BICD2): c.1069C> T (p.Arg357Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202119238 GRCh38 Chromosome 9, 92719576: 92719576
32 BICD2 NM_001003800.1(BICD2): c.1069C> T (p.Arg357Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202119238 GRCh37 Chromosome 9, 95481858: 95481858
33 BICD2 NM_001003800.1(BICD2): c.355C> A (p.Leu119Ile) single nucleotide variant Uncertain significance rs377156663 GRCh37 Chromosome 9, 95491404: 95491404
34 BICD2 NM_001003800.1(BICD2): c.355C> A (p.Leu119Ile) single nucleotide variant Uncertain significance rs377156663 GRCh38 Chromosome 9, 92729122: 92729122
35 BICD2 NM_001003800.1(BICD2): c.1659G> A (p.Met553Ile) single nucleotide variant Uncertain significance rs374912668 GRCh37 Chromosome 9, 95481268: 95481268
36 BICD2 NM_001003800.1(BICD2): c.1659G> A (p.Met553Ile) single nucleotide variant Uncertain significance rs374912668 GRCh38 Chromosome 9, 92718986: 92718986
37 BICD2 NM_001003800.1(BICD2): c.1376C> T (p.Thr459Met) single nucleotide variant Uncertain significance rs777065935 GRCh37 Chromosome 9, 95481551: 95481551
38 BICD2 NM_001003800.1(BICD2): c.1376C> T (p.Thr459Met) single nucleotide variant Uncertain significance rs777065935 GRCh38 Chromosome 9, 92719269: 92719269
39 BICD2 NM_001003800.1(BICD2): c.1725C> G (p.Pro575=) single nucleotide variant Likely benign rs201343832 GRCh37 Chromosome 9, 95481202: 95481202
40 BICD2 NM_001003800.1(BICD2): c.1725C> G (p.Pro575=) single nucleotide variant Likely benign rs201343832 GRCh38 Chromosome 9, 92718920: 92718920
41 BICD2 NM_001003800.1(BICD2): c.1438G> A (p.Ala480Thr) single nucleotide variant Uncertain significance rs140188204 GRCh37 Chromosome 9, 95481489: 95481489
42 BICD2 NM_001003800.1(BICD2): c.1438G> A (p.Ala480Thr) single nucleotide variant Uncertain significance rs140188204 GRCh38 Chromosome 9, 92719207: 92719207
43 BICD2 NM_001003800.1(BICD2): c.1556G> T (p.Ser519Ile) single nucleotide variant Uncertain significance rs940304129 GRCh37 Chromosome 9, 95481371: 95481371
44 BICD2 NM_001003800.1(BICD2): c.1556G> T (p.Ser519Ile) single nucleotide variant Uncertain significance rs940304129 GRCh38 Chromosome 9, 92719089: 92719089
45 BICD2 NM_001003800.1(BICD2): c.2536T> C (p.Cys846Arg) single nucleotide variant Uncertain significance rs760624844 GRCh38 Chromosome 9, 92715186: 92715186
46 BICD2 NM_001003800.1(BICD2): c.2536T> C (p.Cys846Arg) single nucleotide variant Uncertain significance rs760624844 GRCh37 Chromosome 9, 95477468: 95477468
47 BICD2 NM_001003800.1(BICD2): c.1749C> T (p.Pro583=) single nucleotide variant Likely benign rs777813587 GRCh38 Chromosome 9, 92718896: 92718896
48 BICD2 NM_001003800.1(BICD2): c.1749C> T (p.Pro583=) single nucleotide variant Likely benign rs777813587 GRCh37 Chromosome 9, 95481178: 95481178
49 BICD2 NM_001003800.1(BICD2): c.1725C> T (p.Pro575=) single nucleotide variant Likely benign rs201343832 GRCh38 Chromosome 9, 92718920: 92718920
50 BICD2 NM_001003800.1(BICD2): c.1725C> T (p.Pro575=) single nucleotide variant Likely benign rs201343832 GRCh37 Chromosome 9, 95481202: 95481202

Expression for Autosomal Dominant Spinal Muscular Atrophy, Lower...

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