FADS4
MCID: FTL072
MIFTS: 13

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 58 6
Fads4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618393

Summaries for Fetal Akinesia Deformation Sequence 4

OMIM : 58 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)

MalaCards based summary : Fetal Akinesia Deformation Sequence 4, is also known as fads4. An important gene associated with Fetal Akinesia Deformation Sequence 4 is NUP88 (Nucleoporin 88). Affiliated tissues include testes.

Related Diseases for Fetal Akinesia Deformation Sequence 4

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 4

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Spine:
kyphosis

Skeletal:
arthrogryposis multiplex congenita

Skeletal Hands:
camptodactyly

Muscle Soft Tissue:
muscle atrophy

Prenatal Manifestations Movement:
decreased fetal movements

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 Face:
micrognathia
retrognathia
mandibular contracture

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Mouth:
high-arched palate

Skeletal Limbs:
contractures

Genitourinary External Genitalia Male:
undescended testes

Head And Neck Nose:
high broad nasal bridge

Clinical features from OMIM:

618393

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

Anatomical Context for Fetal Akinesia Deformation Sequence 4

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

42
Testes

Publications for Fetal Akinesia Deformation Sequence 4

Articles related to Fetal Akinesia Deformation Sequence 4:

# Title Authors Year
1
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. ( 30543681 )
2018

Variations for Fetal Akinesia Deformation Sequence 4

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP88 NM_002532.6(NUP88): c.1300G> T (p.Asp434Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 5394973: 5394973
2 NUP88 NM_002532.6(NUP88): c.1300G> T (p.Asp434Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 5298293: 5298293
3 NUP88 NM_002532.6(NUP88): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 5388920: 5388920
4 NUP88 NM_002532.6(NUP88): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 5292240: 5292240
5 NUP88 NM_002532.6(NUP88): c.1899_1901del (p.Glu634del) deletion Pathogenic GRCh38 Chromosome 17, 5387401: 5387403
6 NUP88 NM_002532.6(NUP88): c.1899_1901del (p.Glu634del) deletion Pathogenic GRCh37 Chromosome 17, 5290721: 5290723

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

Sources for Fetal Akinesia Deformation Sequence 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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