FADS4
MCID: FTL072
MIFTS: 37

Fetal Akinesia Deformation Sequence 4 (FADS4)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Fetal Akinesia Deformation Sequence 4

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 4:

Name: Fetal Akinesia Deformation Sequence 4 57 72 29 6
Fads4 57 12 72
Fetal Akinesia Deformation Sequence Syndrome 4 12 15
Akinesia, Fetal, Deformation Sequence, Type 4 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
two unrelated families have been reported (last curated april 2019)
death in utero or soon after birth


HPO:

31
fetal akinesia deformation sequence 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Fetal Akinesia Deformation Sequence 4

OMIM® : 57 Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by Bonnin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. (618393) (Updated 20-May-2021)

MalaCards based summary : Fetal Akinesia Deformation Sequence 4, also known as fads4, is related to spinocerebellar ataxia 38 and vitelliform macular dystrophy. An important gene associated with Fetal Akinesia Deformation Sequence 4 is NUP88 (Nucleoporin 88), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Fatty Acyl-CoA Biosynthesis. Affiliated tissues include skeletal muscle and testes, and related phenotypes are kyphosis and high palate

Disease Ontology : 12 A fetal akinesia deformation sequence that has material basis in homozygous or compound heterozygous mutation in NUP88 on chromosome 17p13.2.

UniProtKB/Swiss-Prot : 72 Fetal akinesia deformation sequence 4: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive.

Related Diseases for Fetal Akinesia Deformation Sequence 4

Diseases in the Fetal Akinesia Deformation Sequence 1 family:

Fetal Akinesia Deformation Sequence 2 Fetal Akinesia Deformation Sequence 3
Fetal Akinesia Deformation Sequence 4

Diseases related to Fetal Akinesia Deformation Sequence 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 38 10.0 ELOVL5 ELOVL4
2 vitelliform macular dystrophy 9.9 FADS2 FADS1 ELOVL4
3 lice infestation 9.7 DSCAM ACTB
4 parasitic ectoparasitic infectious disease 9.6 DSCAM ACTB
5 fanconi anemia, complementation group d2 9.4 SCD FADS3 FADS2 ELOVL5 CYB5A
6 autosomal recessive congenital ichthyosis 9.2 ELOVL4 ACTB ABCA1
7 fetal akinesia deformation sequence 1 8.4 SCD NUP88 LINS1 FADS3 FADS2 FADS1

Graphical network of the top 20 diseases related to Fetal Akinesia Deformation Sequence 4:



Diseases related to Fetal Akinesia Deformation Sequence 4

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 4

Human phenotypes related to Fetal Akinesia Deformation Sequence 4:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 HP:0002808
2 high palate 31 HP:0000218
3 short neck 31 HP:0000470
4 skeletal muscle atrophy 31 HP:0003202
5 cryptorchidism 31 HP:0000028
6 retrognathia 31 HP:0000278
7 micrognathia 31 HP:0000347
8 low-set ears 31 HP:0000369
9 broad neck 31 HP:0000475
10 polyhydramnios 31 HP:0001561
11 decreased fetal movement 31 HP:0001558
12 arthrogryposis multiplex congenita 31 HP:0002804
13 rocker bottom foot 31 HP:0001838
14 posteriorly rotated ears 31 HP:0000358
15 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
kyphosis

Head And Neck Face:
retrognathia
micrognathia
mandibular contracture

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Hands:
camptodactyly

Muscle Soft Tissue:
muscle atrophy

Genitourinary External Genitalia Male:
undescended testes

Skeletal Feet:
rocker bottom feet

Chest Ribs Sternum Clavicles And Scapulae:
reduced number of rib pairs

Head And Neck Neck:
short neck
broad neck
hyperextended neck

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal:
arthrogryposis multiplex congenita

Head And Neck Mouth:
high-arched palate

Skeletal Limbs:
contractures

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Nose:
high broad nasal bridge

Clinical features from OMIM®:

618393 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 ABCA1 ACTB AGTR2 DSCAM ELOVL4 FADS1
2 liver/biliary system MP:0005370 9.5 ABCA1 ACTB CYB5A ELOVL5 FADS2 FADS3
3 reproductive system MP:0005389 9.36 ABCA1 ACTB DSCAM ELOVL2 ELOVL4 ELOVL5

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 4

Search Clinical Trials , NIH Clinical Center for Fetal Akinesia Deformation Sequence 4

Genetic Tests for Fetal Akinesia Deformation Sequence 4

Genetic tests related to Fetal Akinesia Deformation Sequence 4:

# Genetic test Affiliating Genes
1 Fetal Akinesia Deformation Sequence 4 29 NUP88

Anatomical Context for Fetal Akinesia Deformation Sequence 4

MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence 4:

40
Skeletal Muscle, Testes

Publications for Fetal Akinesia Deformation Sequence 4

Articles related to Fetal Akinesia Deformation Sequence 4:

# Title Authors PMID Year
1
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. 57 6
30543681 2018
2
Functional desaturase Fads1 (Δ5) and Fads2 (Δ6) orthologues evolved before the origin of jawed vertebrates. 61
22384110 2012

Variations for Fetal Akinesia Deformation Sequence 4

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP88 NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr) SNV Pathogenic 625468 rs1567568217 GRCh37: 17:5298293-5298293
GRCh38: 17:5394973-5394973
2 NUP88 NM_002532.6(NUP88):c.1525C>T (p.Arg509Ter) SNV Pathogenic 625469 rs774070092 GRCh37: 17:5292240-5292240
GRCh38: 17:5388920-5388920
3 NUP88 NM_002532.6(NUP88):c.1899_1901del (p.Glu634del) Deletion Pathogenic 625470 rs776532930 GRCh37: 17:5290721-5290723
GRCh38: 17:5387401-5387403
4 NUP88 NM_002532.6(NUP88):c.1510C>T (p.Pro504Ser) SNV Uncertain significance 1029454 GRCh37: 17:5292255-5292255
GRCh38: 17:5388935-5388935
5 NUP88 NM_002532.6(NUP88):c.34G>A (p.Glu12Lys) SNV Uncertain significance 1029455 GRCh37: 17:5322937-5322937
GRCh38: 17:5419617-5419617
6 NUP88 NM_002532.6(NUP88):c.772G>A (p.Gly258Ser) SNV Uncertain significance 1029456 GRCh37: 17:5312138-5312138
GRCh38: 17:5408818-5408818

UniProtKB/Swiss-Prot genetic disease variations for Fetal Akinesia Deformation Sequence 4:

72
# Symbol AA change Variation ID SNP ID
1 NUP88 p.Asp434Tyr VAR_082159 rs156756821

Expression for Fetal Akinesia Deformation Sequence 4

Search GEO for disease gene expression data for Fetal Akinesia Deformation Sequence 4.

Pathways for Fetal Akinesia Deformation Sequence 4

GO Terms for Fetal Akinesia Deformation Sequence 4

Cellular components related to Fetal Akinesia Deformation Sequence 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.13 SYT7 SCD FADS3 FADS2 FADS1 ELOVL5
2 integral component of membrane GO:0016021 10.03 SYT7 SCD FADS3 FADS2 FADS1 ELOVL5
3 endoplasmic reticulum GO:0005783 9.76 SCD FADS3 FADS2 FADS1 ELOVL5 ELOVL4
4 endoplasmic reticulum membrane GO:0005789 9.28 SCD FADS3 FADS2 FADS1 ELOVL5 ELOVL4
5 integral component of endoplasmic reticulum membrane GO:0030176 9.26 SCD ELOVL5 ELOVL4 ELOVL2

Biological processes related to Fetal Akinesia Deformation Sequence 4 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 SCD FADS3 FADS2 FADS1 ELOVL5 ELOVL4
2 oxidation-reduction process GO:0055114 9.92 SCD FADS3 FADS2 FADS1 CYB5A
3 fatty acid metabolic process GO:0006631 9.7 SCD FADS3 FADS2 FADS1 ELOVL5 ELOVL4
4 sphingolipid biosynthetic process GO:0030148 9.69 ELOVL5 ELOVL4 ELOVL2
5 long-chain fatty-acyl-CoA biosynthetic process GO:0035338 9.67 ELOVL5 ELOVL4 ELOVL2
6 very long-chain fatty acid biosynthetic process GO:0042761 9.65 ELOVL5 ELOVL4 ELOVL2
7 fatty acid elongation, polyunsaturated fatty acid GO:0034626 9.63 ELOVL5 ELOVL4 ELOVL2
8 linoleic acid metabolic process GO:0043651 9.62 FADS2 FADS1 ELOVL5 ELOVL2
9 fatty acid elongation, monounsaturated fatty acid GO:0034625 9.61 ELOVL5 ELOVL4 ELOVL2
10 fatty acid elongation, saturated fatty acid GO:0019367 9.58 ELOVL5 ELOVL4 ELOVL2
11 alpha-linolenic acid metabolic process GO:0036109 9.56 FADS2 FADS1 ELOVL5 ELOVL2
12 fatty acid biosynthetic process GO:0006633 9.5 SCD FADS3 FADS2 FADS1 ELOVL5 ELOVL4
13 unsaturated fatty acid biosynthetic process GO:0006636 9.17 SCD FADS3 FADS2 FADS1 ELOVL5 ELOVL4

Molecular functions related to Fetal Akinesia Deformation Sequence 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 very-long-chain 3-ketoacyl-CoA synthase activity GO:0102756 9.5 ELOVL5 ELOVL4 ELOVL2
2 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water GO:0016717 9.43 SCD FADS1
3 3-oxo-lignoceronyl-CoA synthase activity GO:0102338 9.43 ELOVL5 ELOVL4 ELOVL2
4 stearoyl-CoA 9-desaturase activity GO:0004768 9.4 SCD FADS2
5 linoleoyl-CoA desaturase activity GO:0016213 9.37 FADS2 FADS1
6 3-oxo-cerotoyl-CoA synthase activity GO:0102337 9.33 ELOVL5 ELOVL4 ELOVL2
7 3-oxo-arachidoyl-CoA synthase activity GO:0102336 9.13 ELOVL5 ELOVL4 ELOVL2
8 fatty acid elongase activity GO:0009922 8.8 ELOVL5 ELOVL4 ELOVL2

Sources for Fetal Akinesia Deformation Sequence 4

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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