SMABF1
MCID: SPN382
MIFTS: 27

Spinal Muscular Atrophy with Congenital Bone Fractures 1 (SMABF1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal 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 56 73 29 6
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 52 29
Smabf1 56 73
Atrophy, Muscular, Spinal, with Congenital Bone Fractures, Type 1 39
Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 56
Sma1 with Congenital Bone Fractures 52

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Spinal Muscular Atrophy with Congenital Bone Fractures 1, also known as spinal muscular atrophy type 1 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 hypertelorism and dysphagia

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 11.3

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
spinal muscular atrophy
delayed psychomotor development
alpha-motor neuron degeneration in the spinal cord

Head And Neck Mouth:
narrow mouth
high-arched palate

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Respiratory Lung:
pulmonary hypoplasia

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

Neurologic Peripheral Nervous System:
areflexia
axonal neuropathy
unmyelinated axonal loss

Cardiovascular Vascular:
patent ductus arteriosus

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

Head And Neck Face:
microretrognathia

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

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
2 Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 29

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. 56 6
26924529 2016
2
Severe spinal muscular atrophy variant associated with congenital bone fractures. 56
12503654 2002
3
Spinal muscular atrophy with congenital fractures: postmortem analysis. 56
12503655 2002
4
Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. 56
11826032 2002
5
Spinal muscular atrophy variant with congenital fractures. 56
10528250 1999
6
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. 56
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.760C>T (p.Arg254Ter)SNV Pathogenic 224631 rs869312827 15:64698591-64698591 15:64406392-64406392
2 TRIP4 NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter)SNV Pathogenic 224632 rs761865592 15:64701816-64701816 15:64409617-64409617
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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