Hypotonia-cystinuria syndrome

Preferred Label : Hypotonia-cystinuria syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystinuria with mitochondrial disease; Homozygous 2p16 deletion syndrome;

Included titles and symbols : Homozygous 2p21 deletion syndrome;

Inheritance : Autosomal recessive;

Molecular basis : 2p21del syndrome is a contiguous gene syndrome caused by 179kb deletion containing the SLC3A1 (104614), PREPL (609557), PPM1B (603770), and C2orf34 (609559) genes; HCS is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the SLC3A1 (104614) and PREPL (609557) genes;

Laboratory abnormalities : Lactic acidemia (2p21del); Normal mitochondrial respiratory chain complex I-V (HCS); Transient neonatal hypocalcemia (2p21del); Transient neonatal hypoglycemia (2p21del); Increased urinary cystine, arginine, lysine, and ornithine (HCS and 2p21del); Normal lactate (HCS); Decreased mitochondrial respiratory chain complex (2p21del);

Prefixed ID : #606407;

Details

Origin ID

606407;

UMLS CUI

C1848030;

Currated CISMeF NLP mapping
- Atypical hypotonia-cystinuria syndrome [ICD-11 More detail]
- Atypical hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
- Hypotonia-Cystinuria syndrome [MeSH concept]
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- Hypotonia-cystinuria syndrome [ICD-11 More detail]
- Hypotonia-cystinuria syndrome [MedDRA Preferred Term]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- hypotonia cystinuria syndrome [Disease (Nov.)]
- hypotonia-cystinuria syndrome [DO Concept]
DO Cross reference
- hypotonia-cystinuria syndrome [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central hypotonia [HPO term]
- Contiguous gene syndrome [HPO term]
- Cystinuria [HPO term]
- Decreased fetal movement [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth abnormality [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyperphagia [HPO term]
- Hypocalcemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Lactic acidosis [HPO term]
- Long eyelashes [HPO term]
- Macrotia [HPO term]
- Muscle weakness [HPO term]
- Nasal speech [HPO term]
- Neonatal hypoglycemia [HPO term]
- Neonatal hypotonia [HPO term]
- Nephrolithiasis [HPO term]
- Polyphagia [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Tented upper lip vermilion [HPO term]
Narrower ORDO disease(s)
- 2p21 microdeletion syndrome [ORDO Disease]
Not associated HPO term(s)
- Abnormal activity of mitochondrial respiratory chain [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- 2p21 microdeletion syndrome [ORDO Disease]
- Atypical hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia-cystinuria syndrome [ORDO Disease]
See also inter- (CISMeF)
- Atypical hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atypical hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- Hypotonia-Cystinuria syndrome [MeSH concept]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia-cystinuria syndrome [ICD-11 More detail]
- Hypotonia-cystinuria syndrome [MedDRA Preferred Term]
- hypotonia cystinuria syndrome [Disease (Nov.)]
- hypotonia-cystinuria syndrome [DO Concept]

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