Spinal Muscular Atrophy with Congenital Bone Fractures 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SMABF1 MCID: SPN382 MIFTS: 25	Spinal Muscular Atrophy with Congenital Bone Fractures 1 (SMABF1) Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616866

OMIM Phenotypic Series ⁵⁷ PS616866

MeSH ⁴⁴ D009134

MedGen ⁴¹ C4225177 CN235620

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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.

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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

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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)

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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

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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

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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

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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	Knierim E...Schuelke M	26924529	2016
2	Severe spinal muscular atrophy variant associated with congenital bone fractures. ⁵⁷	Felderhoff-Mueser U...Obladen M	12503654	2002
3	Spinal muscular atrophy with congenital fractures: postmortem analysis. ⁵⁷	Van Toorn R...Wilmshurst JM	12503655	2002
4	Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. ⁵⁷	Courtens W...Scheffer H	11826032	2002
5	Spinal muscular atrophy variant with congenital fractures. ⁵⁷	Kelly TE...Prior TW	10528250	1999
6	Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. ⁵⁷	Borochowitz Z...Blazer S	1865475	1991

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Genes for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Genes related to Spinal Muscular Atrophy with Congenital Bone Fractures 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TRIP4	Thyroid Hormone Receptor Interactor 4	Protein Coding	1054.23	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Summaries Variants (show sections)	26924529

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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

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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.

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Pathways for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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GO Terms for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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Sources for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spinal Muscular Atrophy with Congenital Bone Fractures 1 (SMABF1)

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

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Related Diseases for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Diseases in the Spinal Muscular Atrophy with Congenital Bone Fractures 1 family:

Diseases related to Spinal Muscular Atrophy with Congenital Bone Fractures 1 via text searches within MalaCards or GeneCards Suite gene sharing:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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

Publications for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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

Genes for Spinal Muscular Atrophy with Congenital Bone Fractures 1

Genes related to Spinal Muscular Atrophy with Congenital Bone Fractures 1 (1 elite genes):

Variations for Spinal Muscular Atrophy with Congenital Bone Fractures 1

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

Expression 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