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Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy(GRIDHH)

MedGen UID:
934687
•Concept ID:
C4310720
•
Disease or Syndrome
Synonyms: GRIDHH; GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): IARS1 (9q22.31)
 
Monarch Initiative: MONDO:0014911
OMIM®: 617093
Orphanet: ORPHA541423

Definition

GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016). [from OMIM]

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
•Concept ID:
C0020295
•
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
See: Feature record | Search on this feature
Duplicated collecting system
MedGen UID:
346936
•Concept ID:
C1858565
•
Anatomical Abnormality
A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.
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Fetal growth restriction
MedGen UID:
4693
•Concept ID:
C0015934
•
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
See: Feature record | Search on this feature
Postnatal growth retardation
MedGen UID:
395343
•Concept ID:
C1859778
•
Finding
Slow or limited growth after birth.
See: Feature record | Search on this feature
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Decreased liver function
MedGen UID:
65430
•Concept ID:
C0232744
•
Finding
Reduced ability of the liver to perform its functions.
See: Feature record | Search on this feature
Hepatic steatosis
MedGen UID:
398225
•Concept ID:
C2711227
•
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
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Sensorineural hearing impairment
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
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Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
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Joint laxity
MedGen UID:
39439
•Concept ID:
C0086437
•
Finding
Lack of stability of a joint.
See: Feature record | Search on this feature
Generalized hypotonia
MedGen UID:
346841
•Concept ID:
C1858120
•
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
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Elevated hepatic transaminase
MedGen UID:
338525
•Concept ID:
C1848701
•
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
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Round face
MedGen UID:
116087
•Concept ID:
C0239479
•
Finding
The facial appearance is more circular than usual as viewed from the front.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGrowth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Recent clinical studies

Etiology

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
Am J Hum Genet 2016 Aug 4;99(2):414-22. Epub 2016 Jul 14 doi: 10.1016/j.ajhg.2016.05.027. PMID: 27426735Free PMC Article

Diagnosis

Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.
Patel H, Tze WJ, Crichton JU, McCormick AQ, Robinson GC, Dolman CL
Am J Dis Child 1975 Feb;129(2):175-80. doi: 10.1001/archpedi.1975.02120390017004. PMID: 1119454

Therapy

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
Am J Hum Genet 2016 Aug 4;99(2):414-22. Epub 2016 Jul 14 doi: 10.1016/j.ajhg.2016.05.027. PMID: 27426735Free PMC Article

Prognosis

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
Am J Hum Genet 2016 Aug 4;99(2):414-22. Epub 2016 Jul 14 doi: 10.1016/j.ajhg.2016.05.027. PMID: 27426735Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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