Seckel syndrome 1

Preferred Label : Seckel syndrome 1;

Symbol : SCKL1;

CISMeF acronym : SCKL; SCKL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCKL; Seckel-type dwarfism; Nanocephalic dwarfism; Microcephalic primordial dwarfism I; Bird-headed dwarfism;

Description : Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). - Genetic Heterogeneity of Seckel Syndrome Other forms of Seckel syndrome include SCKL2 (606744), caused by mutation in the RBBP8 gene (604124) on chromosome 18q11; SCKL3 (608664), on chromosome 14q; SCKL4 (613676), caused by mutation in the CENPJ gene (609279) on chromosome 13q12; SCKL5 (613823), caused by mutation in the CEP152 gene (613529) on chromosome 15q21; SCKL6 (614728), caused by mutation in the CEP63 gene (614724) on chromosome 3q22; and SCKL7 (614851), caused by mutation in the NIN gene (608684) on chromosome 14q22.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATR serine/threonine kinase gene (ATR, 601215.0001);

Prefixed ID : #210600;

Details

Origin ID

210600;

UMLS CUI

C4551474;

Automatic exact mappings (from CISMeF team)
- ATR serine/threonine kinase [ORDO Gene]
- ATR serine/threonine kinase [HGNC gene]
- ATR wt Allele [NCIt concept]
- Seckel Syndrome [NCIt concept]
- Seckel syndrome [DO Concept]
- Seckel syndrome [ORDO Disease]
Broader ORDO disease(s)
- Seckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Seckel syndrome 1 [DO Concept]
- Seckel syndrome 1 [MeSH concept]
- seckel syndrome 1 [MeSH Supplementary Concept]
DO Cross reference
- Seckel syndrome 1 [DO Concept]
Genes related to phenotype
- Atr serine/threonine kinase [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormal finger flexion creases [HPO term]
- Abnormality of the pinna [HPO term]
- Abnormally large globe [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypertrophy [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow flexion contracture [HPO term]
- Enamel hypoplasia [HPO term]
- Facial asymmetry [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hyperactivity [HPO term]
- Hypoplasia of proximal fibula [HPO term]
- Hypoplasia of proximal radius [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Ivory epiphyses [HPO term]
- Large basal ganglia [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Pachygyria [HPO term]
- Pancytopenia [HPO term]
- Pes planus [HPO term]
- Postnatal growth retardation [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent nose [HPO term]
- Proportionate short stature [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Selective tooth agenesis [HPO term]
- Short stature, proportionate [HPO term]
- Single transverse palmar crease [HPO term]
- Sloping forehead [HPO term]
- Small anterior fontanelle [HPO term]
- Strabismus [HPO term]
- Talipes [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel Syndrome [NCIt concept]
- Seckel syndrome [ORDO Disease]
- Seckel syndrome [DO Concept]
- Seckel syndrome [PASCAL descriptor]
- Seckel syndrome (disorder) [SNOMED CT concept]
- Seckel syndrome 1 [MeSH concept]
- Seckel syndrome 1 [DO Concept]
- seckel syndrome [SNOMED Notion]
- seckel syndrome 1 [MeSH Supplementary Concept]

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