MCID: SPN380
MIFTS: 17

Spinal Muscular Atrophy with Congenital Bone Fractures 2

Categories: Genetic diseases, Bone diseases, Muscle 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 75 6
Smabf2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in the first months or years of life
one consanguineous turkish family has been reported (last curated march 2016)


HPO:

32
spinal muscular atrophy with congenital bone fractures 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinal Muscular Atrophy with Congenital Bone Fractures 2

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Spinal Muscular Atrophy with Congenital Bone Fractures 2, is also known as smabf2. 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 and spinal cord, and related phenotypes are global developmental delay and areflexia

Description from OMIM: 616867

Related Diseases for Spinal Muscular Atrophy with Congenital Bone Fractures 2

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Peripheral Nervous System:
areflexia
axonal neuropathy
unmyelinated axonal loss

Cardiovascular Heart:
patent foramen ovale

Prenatal Manifestations Movement:
decreased fetal movements

Abdomen Gastrointestinal:
poor feeding due to hypotonia

Skeletal Limbs:
fractures, congenital, of the long bones

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Respiratory Lung:
pulmonary hypoplasia

Neurologic Central Nervous System:
abnormal cortical gyration
delayed psychomotor development
spinal muscular atrophy
alpha-motoneuron degeneration in the spinal cord

Respiratory:
respiratory distress due to hypotonia

Skeletal:
arthrogryposis, distal and proximal

Muscle Soft Tissue:
hypotonia, generalized, severe
muscles do not contract upon electrical stimulation
muscle fiber immaturity
muscle fiber size variation
neurogenic atrophy


Clinical features from OMIM:

616867

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 very rare (1%) HP:0001263
2 areflexia 32 very rare (1%) HP:0001284
3 generalized hypotonia 32 HP:0001290
4 muscle weakness 32 very rare (1%) HP:0001324
5 decreased fetal movement 32 very rare (1%) HP:0001558
6 polyhydramnios 32 very rare (1%) HP:0001561
7 premature birth 32 very rare (1%) HP:0001622
8 patent ductus arteriosus 32 very rare (1%) HP:0001643
9 patent foramen ovale 32 very rare (1%) HP:0001655
10 dysphagia 32 very rare (1%) HP:0002015
11 pulmonary hypoplasia 32 very rare (1%) HP:0002089
12 abnormal cortical gyration 32 very rare (1%) HP:0002536
13 neonatal respiratory distress 32 very rare (1%) HP:0002643
14 arthrogryposis multiplex congenita 32 very rare (1%) HP:0002804
15 respiratory failure 32 HP:0002878
16 axonal loss 32 HP:0003447
17 peripheral axonal neuropathy 32 HP:0003477
18 increased variability in muscle fiber diameter 32 HP:0003557
19 multiple prenatal fractures 32 very rare (1%) HP:0005855
20 severe muscular hypotonia 32 very rare (1%) HP:0006829
21 spinal muscular atrophy 32 HP:0007269

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

Anatomical Context for Spinal Muscular Atrophy with Congenital Bone Fractures 2

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

41
Bone, Spinal Cord

Publications for Spinal Muscular Atrophy with Congenital Bone Fractures 2

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 Variation Type Significance SNP ID Assembly Location
1 ASCC1 NM_001198799.2(ASCC1): c.157dupG (p.Glu53Glyfs) duplication Pathogenic rs753324947 GRCh37 Chromosome 10, 73970545: 73970545
2 ASCC1 NM_001198799.2(ASCC1): c.157dupG (p.Glu53Glyfs) duplication Pathogenic rs753324947 GRCh38 Chromosome 10, 72210787: 72210787

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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