SMABF1
MCID: SPN382
MIFTS: 25

Spinal Muscular Atrophy with Congenital Bone Fractures 1 (SMABF1)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy with Congenital Bone Fractures 1

MalaCards integrated aliases for Spinal Muscular Atrophy with Congenital Bone Fractures 1:

Name: Spinal Muscular Atrophy with Congenital Bone Fractures 1 57 73 29 6
Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 57 73
Smabf1 57 73
Atrophy, Muscular, Spinal, with Congenital Bone Fractures, Type 1 39
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 20
Sma1 with Congenital Bone Fractures 20

Characteristics:

OMIM®:

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

Miscellaneous:
onset in utero
most patients die in the first months or years of life


HPO:

31
spinal muscular atrophy with congenital bone fractures 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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). (616866) (Updated 05-Mar-2021)

MalaCards based summary : Spinal Muscular Atrophy with Congenital Bone Fractures 1, also known as spinal muscular atrophy, type i, with congenital bone fractures, is related to spinal muscular atrophy with congenital bone fractures 2. An important gene associated with Spinal Muscular Atrophy with Congenital Bone Fractures 1 is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include bone, spinal cord and heart, and related phenotypes are dysphagia and high palate

UniProtKB/Swiss-Prot : 73 Spinal muscular atrophy with congenital bone fractures 1: 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 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy with congenital bone fractures 2 11.0

Symptoms & Phenotypes for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Human phenotypes related to Spinal Muscular Atrophy with Congenital Bone Fractures 1:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 very rare (1%) HP:0002015
2 high palate 31 very rare (1%) HP:0000218
3 muscle weakness 31 very rare (1%) HP:0001324
4 global developmental delay 31 very rare (1%) HP:0001263
5 hypertelorism 31 very rare (1%) HP:0000316
6 congestive heart failure 31 very rare (1%) HP:0001635
7 hypohidrosis 31 very rare (1%) HP:0000966
8 neonatal respiratory distress 31 very rare (1%) HP:0002643
9 narrow mouth 31 very rare (1%) HP:0000160
10 patent ductus arteriosus 31 very rare (1%) HP:0001643
11 areflexia 31 very rare (1%) HP:0001284
12 decreased fetal movement 31 very rare (1%) HP:0001558
13 microretrognathia 31 very rare (1%) HP:0000308
14 arthrogryposis multiplex congenita 31 very rare (1%) HP:0002804
15 premature birth 31 very rare (1%) HP:0001622
16 severe muscular hypotonia 31 very rare (1%) HP:0006829
17 oligohydramnios 31 very rare (1%) HP:0001562
18 cardiomyopathy 31 very rare (1%) HP:0001638
19 pulmonary hypoplasia 31 very rare (1%) HP:0002089
20 increased variability in muscle fiber diameter 31 very rare (1%) HP:0003557
21 secundum atrial septal defect 31 very rare (1%) HP:0001684
22 muscle fiber atrophy 31 very rare (1%) HP:0100295
23 patent foramen ovale 31 very rare (1%) HP:0001655
24 multiple prenatal fractures 31 very rare (1%) HP:0005855
25 osteopenia 31 HP:0000938
26 flexion contracture 31 HP:0001371
27 decreased muscle mass 31 HP:0003199
28 pectus excavatum 31 HP:0000767
29 congenital hip dislocation 31 HP:0001374
30 arachnodactyly 31 HP:0001166
31 rocker bottom foot 31 HP:0001838
32 respiratory distress 31 HP:0002098
33 generalized hypotonia 31 HP:0001290
34 generalized amyotrophy 31 HP:0003700
35 hypertrichosis 31 HP:0000998
36 peripheral axonal neuropathy 31 HP:0003477
37 degeneration of anterior horn cells 31 HP:0002398
38 generalized edema 31 HP:0007430
39 axonal loss 31 HP:0003447
40 diaphragmatic eventration 31 HP:0009110
41 spinal muscular atrophy 31 HP:0007269
42 lack of spontaneous play 31 HP:0000721
43 acute infantile spinal muscular atrophy 31 HP:0007280

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
narrow mouth
high-arched palate

Neurologic Peripheral Nervous System:
areflexia
axonal neuropathy
unmyelinated axonal loss

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Neurologic Central Nervous System:
spinal muscular atrophy
delayed psychomotor development
alpha-motor neuron 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

Cardiovascular Heart:
atrial septal defect
patent foramen ovale
cardiac failure (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
microretrognathia

Respiratory Lung:
pulmonary hypoplasia

Prenatal Manifestations Movement:
decreased fetal movements

Abdomen Gastrointestinal:
poor feeding due to hypotonia

Skeletal Limbs:
fractures, congenital, of the long bones

Clinical features from OMIM®:

616866 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Genetic Tests for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Genetic tests related to Spinal Muscular Atrophy with Congenital Bone Fractures 1:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy with Congenital Bone Fractures 1 29 TRIP4

Anatomical Context for Spinal Muscular Atrophy with Congenital Bone Fractures 1

MalaCards organs/tissues related to Spinal Muscular Atrophy with Congenital Bone Fractures 1:

40
Bone, Spinal Cord, Heart

Publications for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Articles related to Spinal Muscular Atrophy with Congenital Bone Fractures 1:

# Title Authors PMID Year
1
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
2
Severe spinal muscular atrophy variant associated with congenital bone fractures. 57
12503654 2002
3
Spinal muscular atrophy with congenital fractures: postmortem analysis. 57
12503655 2002
4
Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. 57
11826032 2002
5
Spinal muscular atrophy variant with congenital fractures. 57
10528250 1999
6
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. 57
1865475 1991

Variations for Spinal Muscular Atrophy with Congenital Bone Fractures 1

ClinVar genetic disease variations for Spinal Muscular Atrophy with Congenital Bone Fractures 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIP4 NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter) SNV Pathogenic 224632 rs761865592 15:64701816-64701816 15:64409617-64409617
2 TRIP4 NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter) SNV Pathogenic 224631 rs869312827 15:64698591-64698591 15:64406392-64406392
3 TRIP4 NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter) SNV Likely pathogenic 432682 rs147303485 15:64701909-64701909 15:64409710-64409710

Expression for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Search GEO for disease gene expression data for Spinal Muscular Atrophy with Congenital Bone Fractures 1.

Pathways for Spinal Muscular Atrophy with Congenital Bone Fractures 1

GO Terms for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Sources for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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