BILAPES
MCID: BRK013
MIFTS: 19

Birk-Landau-Perez Syndrome (BILAPES)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Birk-Landau-Perez Syndrome

MalaCards integrated aliases for Birk-Landau-Perez Syndrome:

Name: Birk-Landau-Perez Syndrome 57 72 6
Bilapes 57 72
Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome 58
Cerebrorenal Syndrome, Perez Type 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in first years of life after normal development
not all patients develop renal insufficiency
one consanguineous saudi arabian bedouin family has been reported (last curated july 2017)


HPO:

31
birk-landau-perez syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Birk-Landau-Perez Syndrome

UniProtKB/Swiss-Prot : 72 Birk-Landau-Perez syndrome: An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy.

MalaCards based summary : Birk-Landau-Perez Syndrome, is also known as bilapes. An important gene associated with Birk-Landau-Perez Syndrome is SLC30A9 (Solute Carrier Family 30 Member 9). Affiliated tissues include eye, and related phenotypes are ptosis and ataxia

More information from OMIM: 617595

Related Diseases for Birk-Landau-Perez Syndrome

Symptoms & Phenotypes for Birk-Landau-Perez Syndrome

Human phenotypes related to Birk-Landau-Perez Syndrome:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 ataxia 31 HP:0001251
3 developmental regression 31 HP:0002376
4 dyskinesia 31 HP:0100660
5 cognitive impairment 31 HP:0100543
6 renal insufficiency 31 HP:0000083
7 dystonia 31 HP:0001332
8 hyperkalemia 31 HP:0002153
9 choreoathetosis 31 HP:0001266
10 oculomotor apraxia 31 HP:0000657
11 tubulointerstitial nephritis 31 HP:0001970
12 difficulty walking 31 HP:0002355
13 loss of speech 31 HP:0002371
14 muscular hypotonia of the trunk 31 HP:0008936
15 limb hypertonia 31 HP:0002509
16 hyperechogenic kidneys 31 HP:0004719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
oculomotor apraxia
saccadic eye movements
abnormal eye movements
lack of visual fixation

Genitourinary Kidneys:
renal insufficiency
hyperechogenic kidneys
renal biopsy shows tubulointerstitial nephritis

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Cardiovascular Vascular:
hypertension due to renal dysfunction

Neurologic Central Nervous System:
ataxia
developmental regression
dyskinesia
cognitive impairment
dystonia
more
Laboratory Abnormalities:
hyperkalemia

Head And Neck Neck:
poor neck control

Clinical features from OMIM®:

617595 (Updated 05-Apr-2021)

Drugs & Therapeutics for Birk-Landau-Perez Syndrome

Search Clinical Trials , NIH Clinical Center for Birk-Landau-Perez Syndrome

Genetic Tests for Birk-Landau-Perez Syndrome

Anatomical Context for Birk-Landau-Perez Syndrome

MalaCards organs/tissues related to Birk-Landau-Perez Syndrome:

40
Eye

Publications for Birk-Landau-Perez Syndrome

Articles related to Birk-Landau-Perez Syndrome:

# Title Authors PMID Year
1
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. 57 6
28334855 2017

Variations for Birk-Landau-Perez Syndrome

ClinVar genetic disease variations for Birk-Landau-Perez Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC30A9 NM_006345.4(SLC30A9):c.1049_1051del (p.Ala350del) Deletion Pathogenic 431049 rs1131692331 GRCh37: 4:42067341-42067343
GRCh38: 4:42065324-42065326
2 SLC30A9 NM_006345.4(SLC30A9):c.1416_1417insT (p.Arg473Ter) Insertion Pathogenic 1032432 GRCh37: 4:42072706-42072707
GRCh38: 4:42070689-42070690

Expression for Birk-Landau-Perez Syndrome

Search GEO for disease gene expression data for Birk-Landau-Perez Syndrome.

Pathways for Birk-Landau-Perez Syndrome

GO Terms for Birk-Landau-Perez Syndrome

Sources for Birk-Landau-Perez Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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