Fetal akinesia deformation sequence 1

Preferred Label : Fetal akinesia deformation sequence 1;

Symbol : FADS1;

CISMeF acronym : FADS; FADS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arthrogryposis multiplex congenita with pulmonary hypoplasia; Pena-shokeir syndrome, type I; Fetal akinesia sequence; Fetal akinesia deformation sequence; FADS;

Description : The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the skeletal muscle receptor tyrosine kinase gene (MUSK, 601296.0006); Caused by mutation in the downstream of tyrosine kinase 7 gene (DOK7, 610285.0009); Caused by mutation in the 43-kD receptor-association protein of the synapse, gene (RAPSN, 601592.0013);

Prefixed ID : #208150;

Details

Origin ID

208150;

UMLS CUI

C1276035;

Automatic exact mappings (from CISMeF team)
- FADS1 Gene [NCIt concept]
- FANCD2 wt Allele [NCIt concept]
- Fatty Acid Desaturase 1 [NCIt concept]
- PSEN1 wt Allele [NCIt concept]
- RAPSN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Fetal Akinesia Deformation Sequence [NCIt concept]
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia sequence [HPO term]
- Pena Shokeir syndrome, type 1 [MeSH concept]
- Pena-Shokeir syndrome type I (disorder) [SNOMED CT concept]
- fetal akinesia deformation sequence [Disease (Nov.)]
- fetal akinesia deformation sequence syndrome 1 [DO Concept]
- fetal akinesia sequence [ICD-11 More detail]
- pena shokeir syndrome, type 1 [MeSH Supplementary Concept]
DO Cross reference
- fetal akinesia deformation sequence syndrome 1 [DO Concept]
False automatic mappings
- Flavin-Adenine dinucleotide [MeSH concept]
- Riboflavin dinucleotide (substance) [SNOMED CT concept]
- flavin-adenine dinucleotide [Substance BNPC]
- flavin-adenine dinucleotide [MeSH Descriptor]
Genes related to phenotype
- Muscle, skeletal, receptor tyrosine kinase [OMIM gene]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Absent septum pellucidum [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly of finger [HPO term]
- Cavum septum pellucidum [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cleft palate [HPO term]
- Congenital vertical talus [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal tip [HPO term]
- Elbow ankylosis [HPO term]
- Fetal akinesia sequence [HPO term]
- Generalized amyotrophy [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Neurogenic muscle atrophy [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature birth [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Rocker bottom foot [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Short umbilical cord [HPO term]
- Slender long bone [HPO term]
- Small for gestational age [HPO term]
- Small placenta [HPO term]
- Small, posteriorly rotated ears [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Thin ribs [HPO term]
- Thin, gracile long bones [HPO term]
- Thoracic hypoplasia [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
ORDO concept(s)
- Fetal akinesia deformation sequence [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal Akinesia Deformation Sequence [NCIt concept]
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia sequence [HPO term]
- Pena Shokeir syndrome, type 1 [MeSH concept]
- Pena-Shokeir syndrome type I (disorder) [SNOMED CT concept]
- fetal akinesia deformation sequence syndrome [DO Concept]
- pena shokeir syndrome, type 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Pena-Shokeir Syndrome [NCIt concept]
- fetal akinesia deformation sequence syndrome [DO Concept]

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