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Huppke-Brendel syndrome(CCHLND; HPBDS)

MedGen UID:
1659966
Concept ID:
C4751114
Disease or Syndrome
Synonyms: ACETYL-CoA TRANSPORTER DEFICIENCY; Congenital cataract-hearing loss-severe developmental delay syndrome; Congenital cataracts, hearing loss, and neurodegeneration
SNOMED CT: Congenital cataract, hearing loss, severe developmental delay syndrome (773648002); Congenital cataract, deafness, severe developmental delay syndrome (773648002); Lethal neurodegenerative disorder due to copper transport defect (773648002)
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).
 
Gene (location): SLC33A1 (3q25.31)
 
Monarch Initiative: MONDO:0013772
OMIM®: 614482
Orphanet: ORPHA300313

Disease characteristics

Excerpted from the GeneReview: Huppke-Brendel Syndrome
Huppke-Brendel syndrome (HBS) is characterized by bilateral congenital cataracts, sensorineural hearing loss, and severe developmental delay. To date, six individuals with HBS have been reported in the literature. All presented in infancy with axial hypotonia; motor delay was apparent in the first few months of life with lack of head control and paucity of limb movement. Seizures have been reported infrequently. In all individuals described to date serum copper and ceruloplasmin levels were very low or undetectable. Brain MRI examination showed hypomyelination, cerebellar hypoplasia mainly affecting the vermis, and wide subarachnoid spaces. None of the individuals reported to date were able to sit or walk independently. All affected individuals died between age ten months and six years. [from GeneReviews]
Authors:
Parayil Sankaran Bindu  |  Shwetha Chiplunkar  |  VP Vandana, et. al.   view full author information

Additional description

From OMIM
Huppke-Brendel syndrome (HPBDS) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination (summary by Huppke et al., 2012).  http://www.omim.org/entry/614482

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Widened subarachnoid space
MedGen UID:
375826
Concept ID:
C1846151
Finding
An increase in size of the anatomic space between the arachnoid membrane and pia mater.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
CNS hypomyelination
MedGen UID:
892446
Concept ID:
C4025616
Finding
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Decreased circulating ceruloplasmin concentration
MedGen UID:
472980
Concept ID:
C0240997
Finding
Decreased concentration of ceruloplasmin in the blood.
Decreased circulating copper concentration
MedGen UID:
488831
Concept ID:
C0268070
Disease or Syndrome
A reduced concentration of copper in the blood.
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHuppke-Brendel syndrome

Recent clinical studies

Diagnosis

Chiplunkar S, Bindu PS, Nagappa M, Bineesh C, Govindaraj P, Gayathri N, Bharath MM, Arvinda HR, Mathuranath PS, Sinha S, Taly AB
Metab Brain Dis 2016 Oct;31(5):1195-8. Epub 2016 Jun 15 doi: 10.1007/s11011-016-9854-6. PMID: 27306358
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

Therapy

Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

Prognosis

Chiplunkar S, Bindu PS, Nagappa M, Bineesh C, Govindaraj P, Gayathri N, Bharath MM, Arvinda HR, Mathuranath PS, Sinha S, Taly AB
Metab Brain Dis 2016 Oct;31(5):1195-8. Epub 2016 Jun 15 doi: 10.1007/s11011-016-9854-6. PMID: 27306358
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

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