MCID: HYP365
MIFTS: 24

Hyperphenylalaninemia, Bh4-Deficient, D

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, D

MalaCards integrated aliases for Hyperphenylalaninemia, Bh4-Deficient, D:

Name: Hyperphenylalaninemia, Bh4-Deficient, D 57 75 29 13 6 40
Hyperphenylalaninemia with Primapterinuria 57 59 75 73
Cadh Deficiency 57 75
Pcbd Deficiency 57 75
Hpabh4d 57 75
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 57
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 75
Hyperphenylalaninemia Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 59
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Phs Deficiency 75
Hyperphenylalaninemia Due to Dehydratase Deficiency 59
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency 59
Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 75
Phs Deficiency 75

Characteristics:

Orphanet epidemiological data:

59
pterin-4 alpha-carbinolamine dehydratase deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
generally mild phenotype
neurologic signs are present in the neonatal period only
neurologic signs may not be present
defect in tetrahydrobiopterin (bh4) synthesis
favorable response to bh4 therapy
diabetes mellitus develops in adolescence


HPO:

32
hyperphenylalaninemia, bh4-deficient, d:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 264070
Orphanet 59 ORPHA1578
ICD10 via Orphanet 34 E70.1
UMLS via Orphanet 74 C1849700
MedGen 42 C1849700
MeSH 44 D010661
UMLS 73 C1849700

Summaries for Hyperphenylalaninemia, Bh4-Deficient, D

OMIM : 57 Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported (Thony et al., 1998). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by Ferre et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A (261640). (264070)

MalaCards based summary : Hyperphenylalaninemia, Bh4-Deficient, D, also known as hyperphenylalaninemia with primapterinuria, is related to hyperphenylalaninemia due to dehydratase deficiency and hyperphenylalaninemia, bh4-deficient, a. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, D is PCBD1 (Pterin-4 Alpha-Carbinolamine Dehydratase 1). The drug Aminolevulinic acid has been mentioned in the context of this disorder. Related phenotypes are muscular hypotonia and motor delay

UniProtKB/Swiss-Prot : 75 Hyperphenylalaninemia, BH4-deficient, D: An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor.

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, D

Diseases in the Hyperphenylalaninemia, Bh4-Deficient, B family:

Hyperphenylalaninemia, Bh4-Deficient, C Hyperphenylalaninemia, Bh4-Deficient, a
Hyperphenylalaninemia, Bh4-Deficient, D

Diseases related to Hyperphenylalaninemia, Bh4-Deficient, D via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia due to dehydratase deficiency 11.3
2 hyperphenylalaninemia, bh4-deficient, a 11.0

Symptoms & Phenotypes for Hyperphenylalaninemia, Bh4-Deficient, D

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hypotonia, mild, transient
hypertonia, mild, transient
delayed motor development, mild, transient
tremor, mild, transient endocrine : nonautoimmune diabetes mellitus, juvenile-onset

Laboratory Abnormalities:
hyperphenylalaninemia
increased urinary 7-biopterin (primapterin)
increased urinary neopterin
low serum magnesium
increased urinary magnesium
more

Clinical features from OMIM:

264070

Human phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, D:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 motor delay 32 HP:0001270
3 hypertonia 32 HP:0001276
4 generalized hypotonia 32 HP:0001290
5 tremor 32 HP:0001337
6 hyperphenylalaninemia 32 HP:0004923
7 transient hyperphenylalaninemia 32 HP:0008297

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, D

Drugs for Hyperphenylalaninemia, Bh4-Deficient, D (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved 106-60-5 137

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of the Porphyrias Recruiting NCT01561157

Search NIH Clinical Center for Hyperphenylalaninemia, Bh4-Deficient, D

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, D

Genetic tests related to Hyperphenylalaninemia, Bh4-Deficient, D:

# Genetic test Affiliating Genes
1 Hyperphenylalaninemia, Bh4-Deficient, D 29 PCBD1

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, D

Publications for Hyperphenylalaninemia, Bh4-Deficient, D

Variations for Hyperphenylalaninemia, Bh4-Deficient, D

UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, D:

75
# Symbol AA change Variation ID SNP ID
1 PCBD1 p.Cys82Arg VAR_005528 rs104894177
2 PCBD1 p.Arg88Gln VAR_005529 rs115117837
3 PCBD1 p.Glu97Lys VAR_005530 rs397518416

ClinVar genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, D:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCBD1 NM_000281.3(PCBD1): c.259G> T (p.Glu87Ter) single nucleotide variant Pathogenic rs104894172 GRCh37 Chromosome 10, 72643763: 72643763
2 PCBD1 NM_000281.3(PCBD1): c.259G> T (p.Glu87Ter) single nucleotide variant Pathogenic rs104894172 GRCh38 Chromosome 10, 70884006: 70884006
3 PCBD1 NM_000281.3(PCBD1): c.244T> C (p.Cys82Arg) single nucleotide variant Pathogenic rs104894177 GRCh37 Chromosome 10, 72643778: 72643778
4 PCBD1 NM_000281.3(PCBD1): c.244T> C (p.Cys82Arg) single nucleotide variant Pathogenic rs104894177 GRCh38 Chromosome 10, 70884021: 70884021
5 PCBD1 NM_000281.3(PCBD1): c.236C> T (p.Thr79Ile) single nucleotide variant Pathogenic rs121913014 GRCh37 Chromosome 10, 72643786: 72643786
6 PCBD1 NM_000281.3(PCBD1): c.236C> T (p.Thr79Ile) single nucleotide variant Pathogenic rs121913014 GRCh38 Chromosome 10, 70884029: 70884029
7 PCBD1 NM_000281.3(PCBD1): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic rs121913015 GRCh37 Chromosome 10, 72643730: 72643730
8 PCBD1 NM_000281.3(PCBD1): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic rs121913015 GRCh38 Chromosome 10, 70883973: 70883973
9 PCBD1 NM_000281.3(PCBD1): c.263G> A (p.Arg88Gln) single nucleotide variant no interpretation for the single variant rs115117837 GRCh37 Chromosome 10, 72643759: 72643759
10 PCBD1 NM_000281.3(PCBD1): c.263G> A (p.Arg88Gln) single nucleotide variant no interpretation for the single variant rs115117837 GRCh38 Chromosome 10, 70884002: 70884002
11 PCBD1 NM_000281.3(PCBD1): c.79G> T (p.Glu27Ter) single nucleotide variant no interpretation for the single variant rs727505360 GRCh37 Chromosome 10, 72645611: 72645611
12 PCBD1 NM_000281.3(PCBD1): c.79G> T (p.Glu27Ter) single nucleotide variant no interpretation for the single variant rs727505360 GRCh38 Chromosome 10, 70885854: 70885854
13 PCBD1 NM_000281.3(PCBD1): c.205G> A (p.Val69Met) single nucleotide variant Uncertain significance rs200188190 GRCh37 Chromosome 10, 72644920: 72644920
14 PCBD1 NM_000281.3(PCBD1): c.205G> A (p.Val69Met) single nucleotide variant Uncertain significance rs200188190 GRCh38 Chromosome 10, 70885163: 70885163
15 PCBD1 NM_000281.3(PCBD1): c.313T> C (p.Ter105Gln) single nucleotide variant Pathogenic rs770334825 GRCh37 Chromosome 10, 72643709: 72643709
16 PCBD1 NM_000281.3(PCBD1): c.313T> C (p.Ter105Gln) single nucleotide variant Pathogenic rs770334825 GRCh38 Chromosome 10, 70883952: 70883952
17 PCBD1 NM_000281.3(PCBD1): c.179T> C (p.Leu60Pro) single nucleotide variant Uncertain significance rs768330993 GRCh37 Chromosome 10, 72644946: 72644946
18 PCBD1 NM_000281.3(PCBD1): c.179T> C (p.Leu60Pro) single nucleotide variant Uncertain significance rs768330993 GRCh38 Chromosome 10, 70885189: 70885189

Expression for Hyperphenylalaninemia, Bh4-Deficient, D

Search GEO for disease gene expression data for Hyperphenylalaninemia, Bh4-Deficient, D.

Pathways for Hyperphenylalaninemia, Bh4-Deficient, D

GO Terms for Hyperphenylalaninemia, Bh4-Deficient, D

Sources for Hyperphenylalaninemia, Bh4-Deficient, D

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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36 IUPHAR
37 KEGG
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40 LOVD
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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