Macs syndrome - CISMeF

Preferred Label : Macs syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrocephaly, alopecia, cutis laxa, and scoliosis; Tall forehead, sparse hair, skin hyperextensibility, and scoliosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RAS and RAB interactor 2 gene (RIN2, 610222.0001);

Prefixed ID : #613075;

Details

Origin ID

613075;

UMLS CUI

C2751321;

Currated CISMeF NLP mapping
- Macrocephaly – alopecia – cutis laxa – scoliosis syndrome [ICD-11 More detail]
- Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) [SNOMED CT concept]
- RIN2 syndrome [ORDO Disease]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH concept]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH Supplementary Concept]
Genes related to phenotype
- Ras and rab interactor 2 [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Bronchiectasis [HPO term]
- Bruising susceptibility [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Decreased body weight [HPO term]
- Downslanted palpebral fissures [HPO term]
- Eclabion [HPO term]
- Gingival overgrowth [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- Hyperextensible skin [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Irregular dentition [HPO term]
- Joint hypermobility [HPO term]
- Osteoporosis [HPO term]
- Palpebral edema [HPO term]
- Pes planus [HPO term]
- Prolonged bleeding time [HPO term]
- Redundant skin [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse hair [HPO term]
- Thick lower lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Urethral stenosis [HPO term]
ORDO concept(s)
- RIN2 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrocephaly – alopecia – cutis laxa – scoliosis syndrome [ICD-11 More detail]
- Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) [SNOMED CT concept]
- RIN2 syndrome [ORDO Disease]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH Supplementary Concept]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH concept]

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