Huntington disease-like 3

General Information (adopted from Orphanet):

Synonyms, Signs: HUNTINGTON DISEASE-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL RECESSIVE
HDL3
Number of Symptoms 21
OrphanetNr: 157946
OMIM Id: 604802
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Huntington disease-like syndrome
 -Rare genetic disease
 -Rare neurologic disease
Miscellaneous movement disorder due to genetic neurodegenerative disease
 -Rare genetic disease
Miscellaneous movement disorder due to neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0002072) Chorea 53 / 7739
3
 (HPO:0002300) Mutism 28 / 7739
4
 (HPO:0001268) Mental deterioration 88 / 7739
5
 (HPO:0001257) Spasticity 251 / 7739
6
 (HPO:0002317) Unsteady gait 45 / 7739
7
 (HPO:0002167) Neurological speech impairment 308 / 7739
8
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
9
 (HPO:0001332) Dystonia 197 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0001250) Seizures 1245 / 7739
12
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
13
 (HPO:0001371) Flexion contracture 220 / 7739
14
 (HPO:0002607) Bowel incontinence 33 / 7739
15
 (HPO:0002340) Caudate atrophy 4 / 7739
16
 (OMIM) Frontal cortical atophy 1 / 7739
17
 (OMIM) Speech disturbance 2 / 7739
18
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
19
 (HPO:0006913) Frontal cortical atrophy 2 / 7739
20
 (MedDRA:10021639) Incontinence 11 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Al-Tahan et al. (1999) described a Saudi family with an autosomal recessive Huntington disease (143100)-like neurodegenerative disorder. Five of 10 sibs, 3 sisters and 2 brothers, from a first-cousin marriage presented with clinical and radiologic features simulating juvenile ...