MCID: BTN003
MIFTS: 56

Biotinidase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Biotinidase Deficiency

MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency 53 12 72 72 23 49 24 55 71 36 28 13 51 41 14 69
Late-Onset Multiple Carboxylase Deficiency 12 23 49 24 55 71
Btd Deficiency 53 12 49 24 55 71
Multiple Carboxylase Deficiency, Juvenile-Onset 53 71 69
Multiple Carboxylase Deficiency, Late-Onset 53 24 71
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 49 24
Juvenile-Onset Multiple Carboxylase Deficiency 12 55
Biotin Deficiency 49 69
Carboxylase Deficiency, Multiple, Late-Onset 24
Deficiency of Biotinidase 12
Biotin Deficiency Disease 69
Mcd Juvenile Form 71
Late-Onset Mcd 71
Biotinidase 13
Biot 24

Characteristics:

Orphanet epidemiological data:

55
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

31
biotinidase deficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated...

Classifications:



Summaries for Biotinidase Deficiency

NIH Rare Diseases : 49 Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed. Last updated: 8/4/2015

MalaCards based summary : Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to holocarboxylase synthetase deficiency and biotin deficiency, and has symptoms including ataxia, muscle weakness and lethargy. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways/superpathways are Biotin metabolism and Vitamin digestion and absorption. The drugs Miconazole and Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and cerebellum.

OMIM : 53 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997). (253260)

UniProtKB/Swiss-Prot : 71 Biotinidase deficiency: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.

Genetics Home Reference : 24 Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.

Disease Ontology : 12 A multiple carboxylase deficiency that involves a deficiency in biotinidase.

GeneReviews: NBK1322

Related Diseases for Biotinidase Deficiency

Diseases related to Biotinidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 50, show less)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 31.8 BTD HLCS
2 biotin deficiency 31.0 BTD HLCS PCCB
3 multiple carboxylase deficiency 31.0 BTD HLCS MCCC2 PCCB
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
5 neuropathy 10.0
6 encephalopathy 10.0
7 carbohydrate metabolic disorder 10.0 BTD HLCS
8 fatal familial insomnia 10.0
9 multiple sclerosis 10.0
10 neuromyelitis optica 10.0
11 galactosemia 9.9
12 ataxia and polyneuropathy, adult-onset 9.9
13 aging 9.9
14 branchiootic syndrome 1 9.9
15 congenital hypothyroidism 9.9
16 hypothyroidism 9.9
17 cerebritis 9.9
18 propionic acidemia 9.8 HLCS PCCB
19 coffin-siris syndrome 1 9.7
20 pancreas, annular 9.7
21 vater/vacterl association 9.7
22 autism 9.7
23 celiac disease 1 9.7
24 hyperlipoproteinemia, type i 9.7
25 leigh syndrome 9.7
26 phenylketonuria 9.7
27 combined immunodeficiency, x-linked 9.7
28 juvenile myelomonocytic leukemia 9.7
29 leukemia 9.7
30 severe combined immunodeficiency 9.7
31 skin disease 9.7
32 basal ganglia calcification 9.7
33 respiratory failure 9.7
34 optic neuritis 9.7
35 vacterl association 9.7
36 candidiasis 9.7
37 neuritis 9.7
38 epilepsy 9.7
39 vaginitis 9.7
40 spinal cord disease 9.7
41 laryngitis 9.7
42 lactic acidosis 9.7
43 myopathy 9.7
44 paraplegia 9.7
45 neuromyelitis optica spectrum disorder 9.7
46 hypertonia 9.7
47 hypotonia 9.7
48 spasticity 9.7
49 organic acidemia 9.6 BTD HLCS PCCB
50 3-methylglutaconic aciduria, type iii 9.4 BTD EIF2B4

Graphical network of the top 20 diseases related to Biotinidase Deficiency:



Diseases related to Biotinidase Deficiency

Symptoms & Phenotypes for Biotinidase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
lethargy
diffuse cerebral atrophy
diffuse cerebellar atrophy
more
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
optic atrophy
conjunctivitis
vision loss

Respiratory:
apnea
tachypnea
breathing problems

Metabolic Features:
metabolic ketoacidosis
organic aciduria

Laboratory Abnormalities:
organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)
mild hyperammonemia
biotinidase deficiency

Abdomen Gastroin testinal:
vomiting
diarrhea
feeding difficulties

Abdomen Liver:
hepatomegaly

Skin Nails Hair Hair:
alopecia

Skin Nails Hair Skin:
seborrheic dermatitis
skin rash
skin infections

Head And Neck Ears:
hearing loss, sensorineural


Clinical features from OMIM:

253260

Human phenotypes related to Biotinidase Deficiency:

55 31 (showing 42, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
3 lethargy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001254
4 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
6 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
7 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
8 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
9 generalized myoclonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002123
10 growth delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001510
11 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
12 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
13 visual field defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001123
14 apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002104
15 coma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001259
16 iris hypopigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007730
17 recurrent fungal infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002841
18 laryngeal stridor 55 31 occasional (7.5%) Occasional (29-5%) HP:0006511
19 metabolic ketoacidosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005979
20 hyperventilation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002883
21 keratoconjunctivitis 55 31 frequent (33%) Frequent (79-30%) HP:0001096
22 desquamation of skin soon after birth 55 31 frequent (33%) Frequent (79-30%) HP:0007549
23 perioral eczema 55 31 frequent (33%) Frequent (79-30%) HP:0011127
24 seizures 31 HP:0001250
25 vomiting 31 HP:0002013
26 diarrhea 31 HP:0002014
27 splenomegaly 31 HP:0001744
28 hepatomegaly 31 HP:0002240
29 sensorineural hearing impairment 31 HP:0000407
30 feeding difficulties in infancy 31 HP:0008872
31 visual loss 31 HP:0000572
32 seborrheic dermatitis 31 HP:0001051
33 conjunctivitis 31 HP:0000509
34 skin rash 31 HP:0000988
35 hyperammonemia 31 HP:0001987
36 abnormality of the cerebellum 55 Occasional (29-5%)
37 recurrent skin infections 31 HP:0001581
38 tachypnea 31 HP:0002789
39 generalized hypotonia 31 HP:0001290
40 organic aciduria 31 HP:0001992
41 diffuse cerebral atrophy 31 HP:0002506
42 diffuse cerebellar atrophy 31 HP:0100275

UMLS symptoms related to Biotinidase Deficiency:


unspecified visual loss, vomiting, seizures, lethargy, exanthema, diarrhea, ataxia, apnea

Drugs & Therapeutics for Biotinidase Deficiency

Drugs for Biotinidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 17, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2 Antifungal Agents Phase 2
3 Anti-Infective Agents Phase 2
4 Antirheumatic Agents Phase 2
5 Calcineurin Inhibitors Phase 2
6 Cyclosporins Phase 2
7 Dermatologic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
10
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
11 Micronutrients
12 Trace Elements
13 Vitamin B Complex
14 Vitamins
15 Folate Nutraceutical
16 Vitamin B7 Nutraceutical
17 Vitamin B9 Nutraceutical

Interventional clinical trials:

(showing 5, show less)

# Name Status NCT ID Phase Drugs
1 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
2 Topical Cyclosporine Suspension for the Treatment of Brittle Nails Completed NCT01064830 Phase 2 topical cyclosporine ophthalmic suspension 0.05%;vehicle
3 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191
4 Biotin Status in Pregnancy Completed NCT00894920
5 BIOtinidase Test In Optic-Neuropathy Recruiting NCT03268681

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Genetic Tests for Biotinidase Deficiency

Genetic tests related to Biotinidase Deficiency:

# Genetic test Affiliating Genes
1 Biotinidase Deficiency 28 BTD

Anatomical Context for Biotinidase Deficiency

MalaCards organs/tissues related to Biotinidase Deficiency:

38
Skin, Testes, Cerebellum, Brain, Spinal Cord, Eye, Pancreas

Publications for Biotinidase Deficiency

Articles related to Biotinidase Deficiency:

(showing 236, show less)
# Title Authors Year
1
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. ( 29359854 )
2018
2
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. ( 28991128 )
2018
3
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. ( 29353266 )
2018
4
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]. ( 28653700 )
2017
5
Neonatal screening for biotinidase deficiency: A 30-year single center experience. ( 28971021 )
2017
6
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 29240078 )
2017
7
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ( 29025919 )
2017
8
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
9
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
10
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ( 29431165 )
2017
11
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
12
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
13
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
14
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
15
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
16
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
17
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
18
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
19
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
20
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
21
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
22
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
23
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
24
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
25
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
26
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2016
27
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
28
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
29
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
30
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
31
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
32
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
33
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
34
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
35
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
36
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
37
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
38
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
39
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
40
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
41
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
42
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
43
Biotinidase deficiency: Novel mutations in Algerian patients. ( 23481307 )
2014
44
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. ( 24525934 )
2014
45
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. ( 23220796 )
2014
46
Management of anesthesia in biotinidase deficiency. ( 24574621 )
2014
47
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
48
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. ( 24797656 )
2014
49
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. ( 25144890 )
2014
50
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. ( 24630269 )
2014
51
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. ( 25174816 )
2014
52
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). ( 24665318 )
2013
53
Biotinidase deficiency: an atypical presentation. ( 24066991 )
2013
54
Biotinidase deficiency in childhood. ( 24005734 )
2013
55
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. ( 24036022 )
2013
56
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. ( 24169397 )
2013
57
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. ( 23552716 )
2013
58
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. ( 23644139 )
2013
59
Epilepsy in biotinidase deficiency after biotin treatment. ( 23430899 )
2012
60
Biotinidase deficiency in Pakistani children; what needs to be known and done. ( 22755269 )
2012
61
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. ( 22605457 )
2012
62
VACTERL association: a new case with biotinidase deficiency and annular pancreas. ( 22010814 )
2012
63
Clinical utility gene card for: biotinidase deficiency. ( 22378278 )
2012
64
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. ( 22698809 )
2012
65
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". ( 22241090 )
2012
66
Optic neuritis in a child with biotinidase deficiency: case report and literature review. ( 22457589 )
2012
67
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. ( 22579707 )
2012
68
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. ( 21051254 )
2011
69
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature. ( 21907891 )
2011
70
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening. ( 22011816 )
2011
71
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference! ( 22679321 )
2011
72
A girl with spastic tetraparesis associated with biotinidase deficiency. ( 21571559 )
2011
73
Ohtahara syndrome with biotinidase deficiency. ( 21115748 )
2011
74
The neurology of biotinidase deficiency. ( 21696988 )
2011
75
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. ( 21123088 )
2011
76
[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening]. ( 20204226 )
2010
77
Analysis of mutations causing biotinidase deficiency. ( 20556795 )
2010
78
[Epileptic encephalopathy due to partial biotinidase deficiency]. ( 20171151 )
2010
79
Biotinidase deficiency: A treatable cause of infantile seizures. ( 21042519 )
2010
80
Profound biotinidase deficiency: a rare disease among native Swedes. ( 20224900 )
2010
81
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. ( 20508364 )
2010
82
Clinical issues and frequent questions about biotinidase deficiency. ( 20129807 )
2010
83
Two unusual clinical and radiological presentations of biotinidase deficiency. ( 20153672 )
2010
84
Technical standards and guidelines for the diagnosis of biotinidase deficiency. ( 20539236 )
2010
85
Biotinidase deficiency with hypertonia as unusual feature. ( 19179722 )
2009
86
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. ( 19728141 )
2009
87
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. ( 19757147 )
2009
88
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. ( 19509076 )
2009
89
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. ( 18545994 )
2008
90
Profound biotinidase deficiency in a child with predominantly spinal cord disease. ( 18645204 )
2008
91
Biotinidase deficiency. ( 18820388 )
2008
92
Long-term follow-up of hearing loss in biotinidase deficiency. ( 17761663 )
2007
93
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. ( 17621476 )
2007
94
Audiologic findings in children with biotinidase deficiency in Turkey. ( 17161472 )
2007
95
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. ( 17185019 )
2007
96
Hearing loss in biotinidase deficiency: genotype-phenotype correlation. ( 17382128 )
2007
97
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. ( 17710663 )
2007
98
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. ( 16480705 )
2006
99
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. ( 17092467 )
2006
100
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. ( 16435182 )
2005
101
Biotinidase: its role in biotinidase deficiency and biotin metabolism. ( 15992688 )
2005
102
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. ( 15776412 )
2005
103
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. ( 15711955 )
2005
104
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. ( 15877202 )
2005
105
Successful pregnancy in a treated patient with biotinidase deficiency. ( 16151912 )
2005
106
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. ( 15060693 )
2004
107
Biotinidase deficiency: a treatable leukoencephalopathy. ( 15328559 )
2004
108
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. ( 15230462 )
2004
109
[Optic neuropathy in biotinidase deficiency]. ( 15306966 )
2004
110
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male. ( 14716165 )
2004
111
Biotinidase Deficiency: New Directions and Practical Concerns. ( 12791199 )
2003
112
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. ( 14707518 )
2003
113
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. ( 14628140 )
2003
114
Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study. ( 23105388 )
2003
115
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. ( 12618081 )
2003
116
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. ( 13679123 )
2003
117
A case of partial biotinidase deficiency associated with autism. ( 13680408 )
2003
118
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. ( 12766862 )
2003
119
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]. ( 14754524 )
2003
120
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. ( 12227467 )
2002
121
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. ( 12372635 )
2002
122
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. ( 11865279 )
2002
123
[Biotinidase deficiency--a case report]. ( 12608316 )
2002
124
[Biotinidase deficiency and eye]. ( 12608322 )
2002
125
Seventeen novel mutations that cause profound biotinidase deficiency. ( 12359137 )
2002
126
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. ( 11998918 )
2002
127
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. ( 11952077 )
2002
128
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. ( 11388594 )
2001
129
Mutations in BTD causing biotinidase deficiency. ( 11668630 )
2001
130
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. ( 11313766 )
2001
131
Novel mutations cause biotinidase deficiency in Turkish children. ( 10801053 )
2000
132
Cutaneous and neurologic manifestations of biotinidase deficiency. ( 10849128 )
2000
133
Biotinidase deficiency--a treatable entity. ( 10932969 )
2000
134
Reversible deafness caused by biotinidase deficiency. ( 11033293 )
2000
135
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. ( 10801060 )
2000
136
Biotinidase deficiency: a treatable genetic disorder in the Saudi population. ( 11924114 )
1999
137
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. ( 10400129 )
1999
138
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. ( 10206677 )
1998
139
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. ( 9705240 )
1998
140
Delayed-onset profound biotinidase deficiency. ( 9506660 )
1998
141
Incidence of biotinidase deficiency in Turkish newborns. ( 9825985 )
1998
142
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. ( 9654207 )
1998
143
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. ( 9516011 )
1998
144
[Prevalence study of biotinidase deficiency in newborns]. ( 9713119 )
1998
145
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency. ( 9764646 )
1998
146
Profound biotinidase deficiency in two asymptomatic adults. ( 9375914 )
1997
147
Biotinidase deficiency: result of treatment with biotin from age 12 years. ( 10728214 )
1997
148
Biotinidase deficiency: two cases of very early presentation. ( 9433861 )
1997
149
Cerebral metabolic changes in biotinidase deficiency. ( 9427142 )
1997
150
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. ( 9232193 )
1997
151
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. ( 9099842 )
1997
152
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. ( 9396567 )
1997
153
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene. ( 9158148 )
1997
154
Biotinidase deficiency with neurological features resembling multiple sclerosis. ( 9323568 )
1997
155
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. ( 9433860 )
1997
156
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. ( 8894703 )
1996
157
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. ( 8750607 )
1995
158
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. ( 7550325 )
1995
159
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. ( 8593541 )
1995
160
Screening for biotinidase deficiency in some skin diseases. ( 7761790 )
1994
161
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. ( 7843204 )
1994
162
Infantile spasms as the initial symptom of biotinidase deficiency. ( 8283357 )
1994
163
Biotinidase deficiency in Scotland. ( 8050627 )
1994
164
Biotinidase deficiency: early neurological presentation. ( 8138076 )
1994
165
First trimester prenatal exclusion of biotinidase deficiency. ( 7707701 )
1994
166
Cerebral metabolic change after treatment in biotinidase deficiency. ( 8412000 )
1993
167
Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. ( 8327062 )
1993
168
Reversal of brain atrophy with biotin treatment in biotinidase deficiency. ( 8232780 )
1993
169
Ophthalmologic findings in biotinidase deficiency. ( 8278163 )
1993
170
Biotinidase Deficiency ( 20301497 )
1993
171
Characterization of seizures associated with biotinidase deficiency. ( 8327137 )
1993
172
Cerebrospinal fluid organic acids in biotinidase deficiency. ( 7609439 )
1993
173
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]. ( 8053766 )
1993
174
Neuropathology of biotinidase deficiency. ( 1441928 )
1992
175
Biotinidase deficiency: a rare cause of laryngeal stridor. ( 1592565 )
1992
176
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. ( 1729884 )
1992
177
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. ( 1561012 )
1992
178
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity. ( 1524870 )
1992
179
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum. ( 1599976 )
1992
180
Neonatal screening for biotinidase deficiency. ( 1503382 )
1992
181
Biotinidase deficiency. ( 1927696 )
1991
182
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. ( 1896047 )
1991
183
Neonatal screening for biotinidase deficiency in east-Hungary. ( 1779652 )
1991
184
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. ( 1877614 )
1991
185
Worldwide survey of neonatal screening for biotinidase deficiency. ( 1779651 )
1991
186
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities. ( 1706649 )
1991
187
Rat as a potential model for hearing loss in biotinidase deficiency. ( 2018287 )
1991
188
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. ( 2109151 )
1990
189
Screening for biotinidase deficiency in newborns: worldwide experience. ( 2314964 )
1990
190
Partial biotinidase deficiency: clinical and biochemical features. ( 2295967 )
1990
191
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. ( 2356250 )
1990
192
Partial biotinidase deficiency associated with Coffin-Siris syndrome. ( 2373113 )
1990
193
Biotinidase deficiency in black children. ( 2329428 )
1990
194
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. ( 2587127 )
1989
195
Biotinidase deficiency associated with severe combined immunodeficiency. ( 2568564 )
1989
196
Requirement of high biotin doses in a case of biotinidase deficiency. ( 2515382 )
1989
197
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. ( 2502673 )
1989
198
Neonatal screening for biotinidase deficiency. A pilot study in Scotland. ( 2515386 )
1989
199
"Cerebral" lactic acidosis and biotinidase deficiency. ( 3234447 )
1988
200
Simon has biotinidase deficiency. ( 3195302 )
1988
201
Neonatal screening for biotinidase deficiency in north eastern Italy. ( 3391228 )
1988
202
Basal ganglia calcifications in a case of biotinidase deficiency. ( 3399084 )
1988
203
Biotinidase deficiency: a survey of 10 cases. ( 3196050 )
1988
204
Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). ( 3148376 )
1988
205
Sudden death associated with biotinidase deficiency. ( 3822661 )
1987
206
A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency. ( 3660404 )
1987
207
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. ( 3658339 )
1987
208
A qualitative assessment of biotinidase deficiency. ( 3500673 )
1987
209
Biotinidase deficiency: metabolites in CSF. ( 3099073 )
1986
210
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. ( 3944695 )
1986
211
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. ( 3762868 )
1986
212
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. ( 3095002 )
1986
213
Screening for biotinidase deficiency. ( 3702961 )
1986
214
Long-term auditory and visual complications of biotinidase deficiency. ( 4054050 )
1985
215
Biotinidase deficiency associated with renal loss of biocytin and biotin. ( 3925858 )
1985
216
Biotinidase deficiency: factors responsible for the increased biotin requirement. ( 3930842 )
1985
217
Biotinidase deficiency. ( 3925856 )
1985
218
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. ( 3926500 )
1985
219
Biotinidase deficiency: presymptomatic treatment. ( 4015175 )
1985
220
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. ( 4000223 )
1985
221
Neurologic symptoms of biotinidase deficiency: possible explanation. ( 4033935 )
1985
222
Biotinidase deficiency: a novel vitamin recycling defect. ( 3930841 )
1985
223
Biotinidase deficiency: initial clinical features and rapid diagnosis. ( 4073853 )
1985
224
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. ( 3930850 )
1985
225
A screening method for biotinidase deficiency in newborns. ( 6690118 )
1984
226
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin. ( 6434861 )
1984
227
Detection of biocytin in urine of children with congenital biotinidase deficiency. ( 6438010 )
1984
228
Phenotypic variability in biotinidase deficiency. ( 6726540 )
1984
229
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. ( 6434860 )
1984
230
Biotinidase deficiency: clinical course and biochemical findings. ( 6438396 )
1984
231
Potential for prenatal diagnosis of biotinidase deficiency. ( 6483793 )
1984
232
Phenotypic variation in biotinidase deficiency. ( 6875714 )
1983
233
Biotinidase deficiency in juvenile multiple carboxylase deficiency. ( 6135890 )
1983
234
Biotinidase deficiency and the eye and ear. ( 6137736 )
1983
235
Hearing loss in biotinidase deficiency. ( 6139700 )
1983
236
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. ( 6883721 )
1983

Variations for Biotinidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Biotinidase Deficiency:

71 (showing 9, show less)
# Symbol AA change Variation ID SNP ID
1 BTD p.Phe128Val VAR_005113 rs397514355
2 BTD p.Ala171Thr VAR_005114 rs13073139
3 BTD p.Asp228Tyr VAR_005115 rs397514380
4 BTD p.His323Arg VAR_005116 rs397507176
5 BTD p.Asp444His VAR_005117 rs13078881
6 BTD p.Gly451Asp VAR_005118 rs397514419
7 BTD p.Gln456His VAR_005119 rs80338685
8 BTD p.Thr532Met VAR_005120 rs104893688
9 BTD p.Arg538Cys VAR_005121 rs80338686

ClinVar genetic disease variations for Biotinidase Deficiency:

6 (showing 157, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
2 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
3 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh37 Chromosome 3, 15677022: 15677022
4 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh37 Chromosome 3, 15677057: 15677057
5 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
6 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh37 Chromosome 3, 15677076: 15677076
7 BTD H65fs insertion Pathogenic
8 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh37 Chromosome 3, 15677080: 15677080
9 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
10 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh37 Chromosome 3, 15677132: 15677140
11 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh37 Chromosome 3, 15677134: 15677134
12 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh37 Chromosome 3, 15677148: 15677148
13 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh37 Chromosome 3, 15677164: 15677164
14 BTD NM_000060.4(BTD): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs397514350 GRCh37 Chromosome 3, 15677184: 15677184
15 BTD NM_000060.4(BTD): c.310G> T (p.Asp104Tyr) single nucleotide variant Pathogenic rs397514351 GRCh37 Chromosome 3, 15683415: 15683415
16 BTD NM_000060.4(BTD): c.334G> C (p.Glu112Gln) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
17 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
18 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh37 Chromosome 3, 15683446: 15683446
19 BTD NM_000060.4(BTD): c.356A> G (p.Asn119Ser) single nucleotide variant Pathogenic rs397514353 GRCh37 Chromosome 3, 15683461: 15683461
20 BTD NM_000060.4(BTD): c.364A> G (p.Arg122Gly) single nucleotide variant Pathogenic rs397514354 GRCh37 Chromosome 3, 15683469: 15683469
21 BTD NM_000060.4(BTD): c.382T> G (p.Phe128Val) single nucleotide variant Pathogenic rs397514355 GRCh37 Chromosome 3, 15683487: 15683487
22 BTD NM_000060.4(BTD): c.393delC (p.Phe131Leufs) deletion Pathogenic rs397514356 GRCh37 Chromosome 3, 15683498: 15683498
23 BTD NM_000060.4(BTD): c.424C> A (p.Pro142Thr) single nucleotide variant Pathogenic/Likely pathogenic rs397514357 GRCh37 Chromosome 3, 15683529: 15683529
24 BTD NM_000060.4(BTD): c.443G> A (p.Arg148His) single nucleotide variant Pathogenic/Likely pathogenic rs367902696 GRCh37 Chromosome 3, 15683548: 15683548
25 BTD NM_000060.4(BTD): c.445T> C (p.Phe149Leu) single nucleotide variant Pathogenic rs397514359 GRCh37 Chromosome 3, 15683550: 15683550
26 BTD NM_000060.4(BTD): c.454A> C (p.Thr152Pro) single nucleotide variant Pathogenic rs374681173 GRCh37 Chromosome 3, 15683559: 15683559
27 BTD NM_000060.4(BTD): c.459G> A (p.Glu153Glu=) single nucleotide variant Pathogenic/Likely pathogenic rs397514360 GRCh37 Chromosome 3, 15683564: 15683564
28 BTD NM_000060.4(BTD): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic rs397514362 GRCh37 Chromosome 3, 15685829: 15685829
29 BTD NM_000060.4(BTD): c.469C> T (p.Arg157Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514363 GRCh37 Chromosome 3, 15685832: 15685832
30 BTD NM_000060.4(BTD): c.485C> T (p.Ala162Val) single nucleotide variant Pathogenic rs397514364 GRCh37 Chromosome 3, 15685848: 15685848
31 BTD NM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs) deletion Pathogenic rs397514365 GRCh37 Chromosome 3, 15685853: 15685854
32 BTD NM_000060.4(BTD): c.515A> G (p.Asn172Ser) single nucleotide variant Pathogenic rs397514366 GRCh37 Chromosome 3, 15685878: 15685878
33 BTD NM_000060.4(BTD): c.528G> T (p.Lys176Asn) single nucleotide variant Pathogenic/Likely pathogenic rs397514367 GRCh37 Chromosome 3, 15685891: 15685891
34 BTD NM_000060.4(BTD): c.544delA (p.Ser182Valfs) deletion Pathogenic rs397514368 GRCh37 Chromosome 3, 15685907: 15685907
35 BTD NM_000060.4(BTD): c.557G> A (p.Cys186Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514369 GRCh37 Chromosome 3, 15685920: 15685920
36 BTD NM_000060.4(BTD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs397514370 GRCh37 Chromosome 3, 15685946: 15685946
37 BTD NM_000060.4(BTD): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs397514371 GRCh37 Chromosome 3, 15685947: 15685947
38 BTD NM_000060.4(BTD): c.587C> G (p.Thr196Arg) single nucleotide variant Pathogenic rs397514372 GRCh37 Chromosome 3, 15685950: 15685950
39 BTD NM_000060.4(BTD): c.594_596delCGT (p.Val199del) deletion Pathogenic rs397514373 GRCh37 Chromosome 3, 15685957: 15685959
40 BTD NM_000060.4(BTD): c.594delC (p.Val199Cysfs) deletion Pathogenic rs397514374 GRCh37 Chromosome 3, 15685957: 15685957
41 BTD NM_000060.4(BTD): c.595G> A (p.Val199Met) single nucleotide variant Pathogenic/Likely pathogenic rs397514375 GRCh37 Chromosome 3, 15685958: 15685958
42 BTD NM_000060.4(BTD): c.605A> T (p.Asn202Ile) single nucleotide variant Pathogenic rs397514376 GRCh37 Chromosome 3, 15685968: 15685968
43 BTD NM_000060.4(BTD): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs372844636 GRCh37 Chromosome 3, 15685994: 15685994
44 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh37 Chromosome 3, 15686006: 15686006
45 BTD NM_000060.4(BTD): c.652G> C (p.Glu218Gln) single nucleotide variant Pathogenic rs397514378 GRCh37 Chromosome 3, 15686015: 15686015
46 BTD NM_000060.4(BTD): c.654G> C (p.Glu218Asp) single nucleotide variant Pathogenic rs397514379 GRCh37 Chromosome 3, 15686017: 15686017
47 BTD NM_000060.4(BTD): c.682G> T (p.Asp228Tyr) single nucleotide variant Pathogenic rs397514380 GRCh37 Chromosome 3, 15686045: 15686045
48 BTD NM_000060.4(BTD): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs397514381 GRCh37 Chromosome 3, 15686072: 15686072
49 BTD NM_000060.4(BTD): c.743T> C (p.Ile248Thr) single nucleotide variant Pathogenic/Likely pathogenic rs397514382 GRCh37 Chromosome 3, 15686106: 15686106
50 BTD NM_000060.4(BTD): c.757C> T (p.Pro253Ser) single nucleotide variant Pathogenic rs397514383 GRCh37 Chromosome 3, 15686120: 15686120
51 BTD NM_000060.4(BTD): c.764T> C (p.Ile255Thr) single nucleotide variant Pathogenic rs397514384 GRCh37 Chromosome 3, 15686127: 15686127
52 BTD NM_000060.4(BTD): c.794A> T (p.His265Leu) single nucleotide variant Pathogenic rs397514385 GRCh37 Chromosome 3, 15686157: 15686157
53 BTD NM_000060.4(BTD): c.933T> G (p.Ser311Arg) single nucleotide variant Pathogenic rs397514386 GRCh37 Chromosome 3, 15686296: 15686296
54 BTD NM_000060.4(BTD): c.814T> G (p.Trp272Gly) single nucleotide variant Pathogenic rs397514387 GRCh37 Chromosome 3, 15686177: 15686177
55 BTD NM_000060.4(BTD): c.832C> G (p.Leu278Val) single nucleotide variant Pathogenic rs397514388 GRCh37 Chromosome 3, 15686195: 15686195
56 BTD NM_000060.4(BTD): c.833T> C (p.Leu278Pro) single nucleotide variant Pathogenic rs397514389 GRCh37 Chromosome 3, 15686196: 15686196
57 BTD NM_000060.4(BTD): c.836T> G (p.Leu279Trp) single nucleotide variant Pathogenic rs397514390 GRCh37 Chromosome 3, 15686199: 15686199
58 BTD NM_000060.4(BTD): c.887T> G (p.Val296Gly) single nucleotide variant Pathogenic rs397514391 GRCh37 Chromosome 3, 15686250: 15686250
59 BTD NM_000060.4(BTD): c.896C> T (p.Ala299Val) single nucleotide variant Pathogenic rs397514392 GRCh37 Chromosome 3, 15686259: 15686259
60 BTD NM_000060.4(BTD): c.929G> A (p.Gly310Glu) single nucleotide variant Pathogenic rs397514393 GRCh37 Chromosome 3, 15686292: 15686292
61 BTD NM_000060.4(BTD): c.932G> A (p.Ser311Asn) single nucleotide variant Pathogenic rs397514394 GRCh37 Chromosome 3, 15686295: 15686295
62 BTD NM_000060.4(BTD): c.933delT (p.Ser311Argfs) deletion Pathogenic/Likely pathogenic rs397514395 GRCh37 Chromosome 3, 15686296: 15686296
63 BTD NM_000060.4(BTD): c.934G> A (p.Gly312Ser) single nucleotide variant Pathogenic rs397514396 GRCh37 Chromosome 3, 15686297: 15686297
64 BTD NM_000060.4(BTD): c.935G> A (p.Gly312Asp) single nucleotide variant Pathogenic rs377651057 GRCh37 Chromosome 3, 15686298: 15686298
65 BTD NM_000060.4(BTD): c.1049delC (p.Ala350Glufs) deletion Pathogenic rs397514397 GRCh37 Chromosome 3, 15686412: 15686412
66 BTD NM_000060.4(BTD): c.1052delC (p.Thr351Lysfs) deletion Pathogenic rs397514398 GRCh37 Chromosome 3, 15686415: 15686415
67 BTD NM_000060.4(BTD): c.1096T> C (p.Ser366Pro) single nucleotide variant Pathogenic rs397514399 GRCh37 Chromosome 3, 15686459: 15686459
68 BTD NM_000060.4(BTD): c.1106C> T (p.Pro369Leu) single nucleotide variant Pathogenic rs397514400 GRCh37 Chromosome 3, 15686469: 15686469
69 BTD NM_000060.4(BTD): c.1334G> T (p.Gly445Val) single nucleotide variant Pathogenic rs397514402 GRCh37 Chromosome 3, 15686697: 15686697
70 BTD NM_000060.4(BTD): c.1191_1192delGA (p.Glu397Aspfs) deletion Pathogenic rs397514403 GRCh37 Chromosome 3, 15686554: 15686555
71 BTD NM_000060.4(BTD): c.1211C> T (p.Thr404Ile) single nucleotide variant Pathogenic rs397514405 GRCh37 Chromosome 3, 15686574: 15686574
72 BTD NM_000060.4(BTD): c.1214T> C (p.Leu405Pro) single nucleotide variant Pathogenic rs397514406 GRCh37 Chromosome 3, 15686577: 15686577
73 BTD NM_000060.4(BTD): c.1227_1241delGGGAAAGGAAGGCTAins11 indel Pathogenic rs672601248 GRCh37 Chromosome 3, 15686590: 15686604
74 BTD NM_000060.4(BTD): c.1239delC (p.Tyr414Ilefs) deletion Pathogenic rs397514407 GRCh37 Chromosome 3, 15686602: 15686602
75 BTD NM_000060.4(BTD): c.1252T> C (p.Cys418Arg) single nucleotide variant Pathogenic rs397514408 GRCh37 Chromosome 3, 15686615: 15686615
76 BTD NM_000060.4(BTD): c.1249G> T (p.Val417Phe) single nucleotide variant Pathogenic rs397514409 GRCh37 Chromosome 3, 15686612: 15686612
77 BTD NM_000060.4(BTD): c.1253G> C (p.Cys418Ser) single nucleotide variant Pathogenic rs397514410 GRCh37 Chromosome 3, 15686616: 15686616
78 BTD NM_000060.4(BTD): c.1264dupC (p.Leu422Profs) duplication Pathogenic rs397514411 GRCh37 Chromosome 3, 15686627: 15686627
79 BTD NM_000060.4(BTD): c.1267T> C (p.Cys423Arg) single nucleotide variant Pathogenic rs397514412 GRCh37 Chromosome 3, 15686630: 15686630
80 BTD NM_000060.4(BTD): c.1268G> C (p.Cys423Ser) single nucleotide variant Pathogenic rs397514413 GRCh37 Chromosome 3, 15686631: 15686631
81 BTD NM_000060.4(BTD): c.1271G> A (p.Cys424Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
82 BTD NM_000060.4(BTD): c.1275T> G (p.Tyr425Ter) single nucleotide variant Pathogenic rs397514414 GRCh37 Chromosome 3, 15686638: 15686638
83 BTD NM_000060.4(BTD): c.1284C> A (p.Tyr428Ter) single nucleotide variant Pathogenic rs35145938 GRCh37 Chromosome 3, 15686647: 15686647
84 BTD NM_000060.4(BTD): c.1313A> G (p.Tyr438Cys) single nucleotide variant Pathogenic rs397514415 GRCh37 Chromosome 3, 15686676: 15686676
85 BTD NM_000060.4(BTD): c.1314T> A (p.Tyr438Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514416 GRCh37 Chromosome 3, 15686677: 15686677
86 BTD NM_000060.4(BTD): c.1333G> A (p.Gly445Arg) single nucleotide variant Pathogenic rs397514417 GRCh37 Chromosome 3, 15686696: 15686696
87 BTD NM_000060.4(BTD): c.1339C> T (p.His447Tyr) single nucleotide variant Pathogenic rs397514418 GRCh37 Chromosome 3, 15686702: 15686702
88 BTD NM_000060.4(BTD): c.1352G> A (p.Gly451Asp) single nucleotide variant Pathogenic rs397514419 GRCh37 Chromosome 3, 15686715: 15686715
89 BTD NM_000060.4(BTD): c.1369G> A (p.Val457Met) single nucleotide variant Pathogenic rs146600671 GRCh37 Chromosome 3, 15686732: 15686732
90 BTD NM_000060.4(BTD): c.1384delA (p.Arg462Glyfs) deletion Pathogenic rs397514420 GRCh37 Chromosome 3, 15686747: 15686747
91 BTD NM_000060.4(BTD): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs397514421 GRCh37 Chromosome 3, 15686751: 15686751
92 BTD NM_000060.4(BTD): c.1432G> C (p.Ala478Pro) single nucleotide variant Pathogenic rs181396238 GRCh37 Chromosome 3, 15686795: 15686795
93 BTD NM_000060.4(BTD): c.1455C> G (p.His485Gln) single nucleotide variant Pathogenic rs201604102 GRCh37 Chromosome 3, 15686818: 15686818
94 BTD NM_000060.4(BTD): c.1459T> C (p.Trp487Arg) single nucleotide variant Pathogenic rs397514422 GRCh37 Chromosome 3, 15686822: 15686822
95 BTD NM_000060.4(BTD): c.1459delT (p.Trp487Glyfs) deletion Pathogenic/Likely pathogenic rs397514423 GRCh37 Chromosome 3, 15686822: 15686822
96 BTD NM_000060.4(BTD): c.1463G> A (p.Gly488Asp) single nucleotide variant Pathogenic rs397514424 GRCh37 Chromosome 3, 15686826: 15686826
97 BTD NM_000060.4(BTD): c.1489C> T (p.Pro497Ser) single nucleotide variant Pathogenic rs138818907 GRCh37 Chromosome 3, 15686852: 15686852
98 BTD NM_000060.4(BTD): c.1493dupT (p.Leu498Phefs) duplication Pathogenic rs397514425 GRCh37 Chromosome 3, 15686856: 15686856
99 BTD NM_000060.4(BTD): c.1511T> A (p.Met504Lys) single nucleotide variant Pathogenic rs397514426 GRCh37 Chromosome 3, 15686874: 15686874
100 BTD NM_000060.4(BTD): c.1531C> G (p.Gln511Glu) single nucleotide variant Pathogenic rs397514427 GRCh37 Chromosome 3, 15686894: 15686894
101 BTD NM_000060.4(BTD): c.1610G> A (p.Gly537Glu) single nucleotide variant Pathogenic rs397514428 GRCh37 Chromosome 3, 15686973: 15686973
102 BTD NM_000060.4(BTD): c.1613G> A (p.Arg538His) single nucleotide variant Pathogenic rs397514429 GRCh37 Chromosome 3, 15686976: 15686976
103 BTD NM_000060.4(BTD): c.1616dupT (p.Leu539Phefs) duplication Pathogenic rs397514430 GRCh37 Chromosome 3, 15686979: 15686979
104 BTD NM_000060.4(BTD): c.1627G> C (p.Asp543His) single nucleotide variant Pathogenic rs397514432 GRCh37 Chromosome 3, 15686990: 15686990
105 BTD NM_000060.4(BTD): c.664G> C (p.Asp222His) single nucleotide variant Pathogenic rs200337373 GRCh37 Chromosome 3, 15686027: 15686027
106 BTD NM_000060.4(BTD): c.1001T> A (p.Ile334Asn) single nucleotide variant Pathogenic rs397514433 GRCh37 Chromosome 3, 15686364: 15686364
107 BTD NM_000060.4(BTD): c.1432G> A (p.Ala478Thr) single nucleotide variant Pathogenic rs181396238 GRCh37 Chromosome 3, 15686795: 15686795
108 BTD NM_000060.4(BTD): c.629A> G (p.Tyr210Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397507174 GRCh38 Chromosome 3, 15644485: 15644485
109 BTD NM_000060.4(BTD): c.559C> T (p.Pro187Ser) single nucleotide variant Pathogenic rs397507173 GRCh37 Chromosome 3, 15685922: 15685922
110 BTD NM_000060.4(BTD): c.734G> A (p.Cys245Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397507175 GRCh37 Chromosome 3, 15686097: 15686097
111 BTD NM_000060.4(BTD): c.326T> G (p.Val109Gly) single nucleotide variant Pathogenic rs397507172 GRCh37 Chromosome 3, 15683431: 15683431
112 BTD NM_000060.4(BTD): c.470G> A (p.Arg157His) single nucleotide variant Pathogenic rs146015592 GRCh37 Chromosome 3, 15685833: 15685833
113 BTD NM_000060.4(BTD): c.184G> A (p.Val62Met) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
114 BTD NM_000060.4(BTD): c.236G> A (p.Arg79His) single nucleotide variant Pathogenic rs397514343 GRCh37 Chromosome 3, 15677122: 15677122
115 BTD NM_000060.4(BTD): c.245C> A (p.Ala82Asp) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
116 BTD NM_000060.4(BTD): c.128A> G (p.His43Arg) single nucleotide variant Pathogenic rs146011150 GRCh37 Chromosome 3, 15677014: 15677014
117 BTD NM_000060.4(BTD): c.407dupA (p.Val137Glyfs) insertion Pathogenic rs397514439 GRCh37 Chromosome 3, 15683512: 15683512
118 BTD NM_000060.4(BTD): c.1158G> A (p.Trp386Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514434 GRCh37 Chromosome 3, 15686521: 15686521
119 BTD NM_000060.4(BTD): c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) deletion Pathogenic rs397514404 GRCh37 Chromosome 3, 15686604: 15686615
120 BTD NM_000060.4(BTD): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs397514436 GRCh37 Chromosome 3, 15677078: 15677078
121 BTD NM_000060.4(BTD): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic rs397514437 GRCh37 Chromosome 3, 15685881: 15685881
122 BTD NM_000060.4(BTD): c.758C> T (p.Pro253Leu) single nucleotide variant Pathogenic rs397514438 GRCh37 Chromosome 3, 15686121: 15686121
123 BTD NM_000060.4(BTD): c.1394dupG (p.Leu466Serfs) duplication Pathogenic/Likely pathogenic rs397514440 GRCh37 Chromosome 3, 15686757: 15686757
124 BTD NM_000060.4(BTD): c.1508_1512delGGATG (p.Gly503Aspfs) deletion Pathogenic rs398123138 GRCh37 Chromosome 3, 15686871: 15686875
125 BTD NM_000060.4(BTD): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs587783002 GRCh37 Chromosome 3, 15677143: 15677143
126 BTD NM_000060.4(BTD): c.455C> G (p.Thr152Arg) single nucleotide variant Pathogenic rs587783003 GRCh37 Chromosome 3, 15683560: 15683560
127 BTD NM_000060.4(BTD): c.683A> G (p.Asp228Gly) single nucleotide variant Pathogenic rs587783004 GRCh37 Chromosome 3, 15686046: 15686046
128 BTD NM_000060.4(BTD): c.701C> T (p.Thr234Ile) single nucleotide variant Pathogenic rs587783005 GRCh37 Chromosome 3, 15686064: 15686064
129 BTD NM_000060.4(BTD): c.898A> C (p.Asn300His) single nucleotide variant Pathogenic/Likely pathogenic rs587783006 GRCh37 Chromosome 3, 15686261: 15686261
130 BTD NM_000060.4(BTD): c.1372dupT (p.Cys458Leufs) duplication Pathogenic rs587783007 GRCh37 Chromosome 3, 15686735: 15686735
131 BTD NM_000060.4(BTD): c.310-15delT deletion Pathogenic rs587783008 GRCh37 Chromosome 3, 15683400: 15683400
132 BTD NM_000060.4(BTD): c.202_205dupATCC (p.Leu69Hisfs) duplication Likely pathogenic rs786204672 GRCh37 Chromosome 3, 15677088: 15677091
133 BTD NM_000060.4(BTD) indel Likely pathogenic rs672601248 GRCh37 Chromosome 3, 15686590: 15686604
134 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh37 Chromosome 3, 15676984: 15676990
135 BTD BTD, 15-BP DEL/11-BP INS indel Pathogenic
136 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh37 Chromosome 3, 15686958: 15686958
137 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
138 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs119103232 GRCh37 Chromosome 3, 15676986: 15676986
139 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Pathogenic/Likely pathogenic rs13078881 GRCh37 Chromosome 3, 15686693: 15686693
140 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh37 Chromosome 3, 15686118: 15686118
141 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh37 Chromosome 3, 15686731: 15686731
142 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic rs104893686 GRCh37 Chromosome 3, 15686570: 15686570
143 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh37 Chromosome 3, 15677121: 15677121
144 BTD NM_000060.4(BTD): c.1612C> A (p.Arg538Ser) single nucleotide variant Likely pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
145 BTD NM_000060.4(BTD): c.1410dupC (p.Cys471Leufs) duplication Pathogenic/Likely pathogenic rs886041559 GRCh37 Chromosome 3, 15686773: 15686773
146 BTD NM_000060.4(BTD): c.43A> T (p.Arg15Ter) single nucleotide variant Likely pathogenic rs143058480 GRCh38 Chromosome 3, 15601893: 15601893
147 BTD NM_000060.4(BTD): c.44+1G> A single nucleotide variant Likely pathogenic rs1057516440 GRCh38 Chromosome 3, 15601895: 15601895
148 BTD NM_000060.4(BTD): c.44+1G> C single nucleotide variant Likely pathogenic rs1057516440 GRCh38 Chromosome 3, 15601895: 15601895
149 BTD NM_000060.4(BTD): c.44+1G> T single nucleotide variant Likely pathogenic rs1057516440 GRCh37 Chromosome 3, 15643402: 15643402
150 BTD NM_000060.4(BTD): c.44+1delG deletion Likely pathogenic rs1057517114 GRCh37 Chromosome 3, 15643402: 15643402
151 BTD NM_000060.4(BTD): c.107dupA (p.Tyr36Terfs) duplication Likely pathogenic rs1057516812 GRCh38 Chromosome 3, 15635486: 15635486
152 BTD NM_000060.4(BTD): c.309+1G> T single nucleotide variant Likely pathogenic rs373249212 GRCh38 Chromosome 3, 15635689: 15635689
153 BTD NM_000060.4(BTD): c.372_375dupCATT (p.Tyr126Hisfs) duplication Likely pathogenic rs1057516223 GRCh38 Chromosome 3, 15641970: 15641973
154 BTD NM_000060.4(BTD): c.1129G> T (p.Glu377Ter) single nucleotide variant Likely pathogenic rs1057516252 GRCh38 Chromosome 3, 15644985: 15644985
155 BTD NM_000060.4(BTD): c.1170_1171dupTC (p.Pro391Leufs) duplication Likely pathogenic rs1057517256 GRCh38 Chromosome 3, 15645026: 15645027
156 BTD NM_000060.4(BTD): c.1307_1308delAG (p.Glu436Alafs) deletion Likely pathogenic rs1057517225 GRCh38 Chromosome 3, 15645163: 15645164
157 BTD NM_000060.4(BTD): c.1324delG (p.Val442Serfs) deletion Likely pathogenic rs1057517362 GRCh38 Chromosome 3, 15645180: 15645180

Expression for Biotinidase Deficiency

Search GEO for disease gene expression data for Biotinidase Deficiency.

Pathways for Biotinidase Deficiency

Pathways related to Biotinidase Deficiency according to KEGG:

36
(showing 2, show less)
# Name Kegg Source Accession
1 Biotin metabolism hsa00780
2 Vitamin digestion and absorption hsa04977

Pathways related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 BTD HLCS LPL MCCC2 PCCB
2
Show member pathways
11.63 BTD HLCS LPL MCCC2 PCCB
3
Show member pathways
11.39 MCCC2 PCCB
4
Show member pathways
11.24 MCCC2 PCCB
5
Show member pathways
10.23 MCCC2 PCCB
6 9.43 BTD HLCS

GO Terms for Biotinidase Deficiency

Cellular components related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 BTD MCCC2 PCCB

Biological processes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 response to glucose GO:0009749 9.16 EIF2B4 LPL
2 fatty acid biosynthetic process GO:0006633 8.96 LPL PCCB
3 biotin metabolic process GO:0006768 8.92 BTD HLCS MCCC2 PCCB

Molecular functions related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.8 HLCS MCCC2 PCCB

Sources for Biotinidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....