3-methylglutaconic aciduria type 4

General Information (adopted from Orphanet):

Synonyms, Signs: MGA, TYPE IV
MGCA4
MGA4
Number of Symptoms 44
OrphanetNr: 67048
OMIM Id: 250951
ICD-10: E71.1
UMLs: C0574085
MeSH:
MedDRA:
Snomed: 297233004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 3-methylglutaconic aciduria
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001992) Organic aciduria Very frequent [Orphanet] 28 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0003344) 3-Methylglutaric aciduria 6 / 7739
4
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
5
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
6
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
7
 (HPO:0007703) Abnormality of retinal pigmentation Occasional [Orphanet] 21 / 7739
8
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
9
 (HPO:0011097) Epileptic spasms Very frequent [Orphanet] 45 / 7739
10
 (HPO:0002133) Status epilepticus Very frequent [Orphanet] 59 / 7739
11
 (HPO:0001284) Areflexia 198 / 7739
12
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
13
 (HPO:0002121) Absence seizures Very frequent [Orphanet] 62 / 7739
14
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
15
 (HPO:0001265) Hyporeflexia 208 / 7739
16
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
17
 (HPO:0011147) Typical absence seizures Very frequent [Orphanet] 33 / 7739
18
 (HPO:0001270) Motor delay Very frequent [Orphanet] 322 / 7739
19
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 1089 / 7739
20
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 114 / 7739
21
 (HPO:0011344) Severe global developmental delay 46 / 7739
22
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 853 / 7739
23
 (HPO:0001257) Spasticity Very frequent [Orphanet] 251 / 7739
24
 (HPO:0002063) Rigidity Very frequent [Orphanet] 92 / 7739
25
 (HPO:0000954) Single transverse palmar crease 162 / 7739
26
 (HPO:0007598) Bilateral single transverse palmar creases 13 / 7739
27
 (HPO:0000023) Inguinal hernia 181 / 7739
28
 (HPO:0001682) Subaortic stenosis 17 / 7739
29
 (HPO:0004381) Supravalvular aortic stenosis 6 / 7739
30
 (HPO:0001639) Hypertrophic cardiomyopathy Frequent [Orphanet] 137 / 7739
31
 (HPO:0200128) Biventricular hypertrophy 11 / 7739
32
 (HPO:0001644) Dilated cardiomyopathy Frequent [Orphanet] 141 / 7739
33
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
34
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
35
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
36
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] hallmark [HPO] 859 / 7739
37
 (HPO:0001319) Neonatal hypotonia 101 / 7739
38
 (HPO:0007033) Cerebellar dysplasia 13 / 7739
39
 (HPO:0007360) Aplasia/Hypoplasia of the cerebellum Frequent [Orphanet] 10 / 7739
40
 (HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis Frequent [Orphanet] typical [HPO] 15 / 7739
41
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
42
 (HPO:0002335) Agenesis of cerebellar vermis Frequent [Orphanet] typical [HPO] 25 / 7739
43
 (HPO:0001320) Cerebellar vermis hypoplasia Frequent [Orphanet] typical [HPO] 57 / 7739
44
 (OMIM) Cerebellar dysgenesis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by ...
Clinical Description OMIM Chitayat et al. (1992) described an 18-year-old man, born of consanguineous Italian parents, with severe psychomotor retardation. At birth, he showed poor growth, was hypotonic, with absent reflexes and respiratory distress. Congenital deformities included bilateral inguinal hernia, undescended ...