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2-hydroxyglutaric aciduria +
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
abdominal obesity-metabolic syndrome +
Acroosteolysis dominant type
ALDH18A1-related de Barsy syndrome
apolipoprotein c-III deficiency
aromatase excess syndrome
arthrogryposis, distal, type 2B3
arthrogryposis-renal dysfunction-cholestasis syndrome +
ASAH1-related disorders +
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autoinflammation with episodic fever and lymphadenopathy
autosomal dominant Alport syndrome
autosomal dominant brachyolmia
autosomal dominant cataract
autosomal dominant centronuclear myopathy
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant coarctation of aorta
autosomal dominant complex spastic paraplegia +
autosomal dominant cutis laxa +
autosomal dominant distal myopathy +
autosomal dominant distal renal tubular acidosis
autosomal dominant dopa-responsive dystonia +
autosomal dominant Ehlers-Danlos syndrome, vascular type
autosomal dominant Emery-Dreifuss muscular dystrophy +
autosomal dominant epidermolytic ichthyosis +
autosomal dominant hereditary sensory and autonomic neuropathy
autosomal dominant hypocalcemia +
autosomal dominant hypohidrotic ectodermal dysplasia +
autosomal dominant hypophosphatemic rickets
autosomal dominant ichthyosis vulgaris +
autosomal dominant intermediate Charcot-Marie-Tooth disease +
autosomal dominant Kenny-Caffey syndrome
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
autosomal dominant medullary cystic kidney disease with or without hyperuricemia +
autosomal dominant myoglobinuria
autosomal dominant nonsyndromic hearing loss +
autosomal dominant oculocutaneous albinism
autosomal dominant omodysplasia
autosomal dominant optic atrophy +
autosomal dominant osteopetrosis +
Autosomal dominant polycystic kidney disease +
autosomal dominant polycystic liver disease +
autosomal dominant popliteal pterygium syndrome
autosomal dominant primary microcephaly +
autosomal dominant progressive external ophthalmoplegia +
autosomal dominant proximal renal tubular acidosis
autosomal dominant proximal spinal muscular atrophy
autosomal dominant pure spastic paraplegia
autosomal dominant rhegmatogenous retinal detachment
autosomal dominant Robinow syndrome
autosomal dominant secondary polycythemia
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia
autosomal dominant spastic ataxia +
autosomal dominant spondylocostal dysostosis
autosomal dominant titinopathy +
autosomal dominant vibratory urticaria
autosomal recessive cutis laxa type 2 +
autosomal recessive proximal renal tubular acidosis
B4GALT1-congenital disorder of glycosylation
Bannayan-Riley-Ruvalcaba syndrome
Beare-Stevenson cutis gyrata syndrome
Birt-Hogg-Dube syndrome +
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome +
branchio-oto-renal syndrome
branchiooculofacial syndrome
breast-ovarian cancer, familial, susceptibility to, 1
Brooke-Spiegler syndrome +
cataract-aberrant oral frenula-growth delay syndrome
charcot-marie-tooth disease, axonal, type 2DD
chondrodysplasia with joint dislocations, gPAPP type
cochleosaccular degeneration-cataract syndrome
COG1-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
congenital disorder of deglycosylation +
congenital disorder of glycosylation +
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
creatine transporter deficiency
Crouzon syndrome-acanthosis nigricans syndrome
cutis laxa, autosomal dominant 3
diffuse nonepidermolytic palmoplantar keratoderma
disorder of lysosomal-related organelles +
disorder of metabolite absorption and transport +
disorder of peptide and amine metabolism +
distal arthrogryposis type 2B1
Duane-radial ray syndrome +
dyskeratosis congenita, autosomal dominant 2
dyskeratosis congenita, autosomal dominant 3
early-onset autosomal dominant Alzheimer disease +
Ehlers-Danlos syndrome, classic type +
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, spondylodysplastic type +
encephalopathy due to sulfite oxidase deficiency +
epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
epilepsy, early-onset, with or without developmental delay
familial hypocalciuric hypercalcemia +
familial hypoparathyroidism +
familial intrahepatic cholestasis +
ferro-cerebro-cutaneous syndrome
generalized juvenile polyposis/juvenile polyposis coli
glass-chapman-hockley syndrome
gluthathione peroxidase deficiency
glycoprotein metabolism disease +
glycosylphosphatidylinositol biosynthesis defect 15
GUCY2D-related dominant retinopathy +
hand-foot-genital syndrome
heart-hand syndrome, Slovenian type
hemolytic anemia due to diphosphoglycerate mutase deficiency
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia +
hereditary lipodystrophy +
hereditary recurrent myoglobinuria +
Houge-Janssens syndrome 2
hyper-IgE recurrent infection syndrome 1, autosomal dominant
hypercalcemia, infantile +
hyperkeratosis-hyperpigmentation syndrome
hypermanganesemia with dystonia +
hyperphosphatasia-intellectual disability syndrome
hypoalphalipoproteinemia, primary, 1
hypophosphatasia + Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).
hypopigmentation-punctate palmoplantar keratoderma syndrome
hypotonia-failure to thrive-microcephaly syndrome
IMPG1-related dominant retinopathy +
inborn aminoacylase deficiency +
inborn carbohydrate metabolic disorder +
inborn disorder of amino acid and other organic acid metabolism +
inborn disorder of amino acid metabolism +
inborn disorder of biogenic amine metabolism and transport +
inborn disorder of energy metabolism +
inborn disorder of porphyrin metabolism +
inborn disorder of purine or pyrimidine metabolism +
inborn glycerol kinase deficiency +
inborn metal metabolism disorder +
inborn mitochondrial metabolism disorder +
inclusion body myopathy and brain white matter abnormalities
inherited lipid metabolism disorder +
inherited thyroid metabolism disease +
intellectual developmental disorder 60 with seizures
intellectual developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual disability, autosomal dominant +
intellectual disability, autosomal dominant 14
intellectual disability, autosomal dominant 16
intellectual disability, autosomal dominant 29
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
isolated congenital adermatoglyphia
juvenile cataract-microcornea-renal glucosuria syndrome
Larsen-like syndrome, B3GAT3 type
lysosomal storage disease +
macrocephaly-autism syndrome
mandibuloacral dysplasia +
mandibulofacial dysostosis-microcephaly syndrome
melanoma, cutaneous malignant, susceptibility to, 2
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
MGAT2-congenital disorder of glycosylation
microcephalic osteodysplastic dysplasia, Saul-Wilson type
mucopolysaccharidosis or mucopolysaccharidosis-like disorder +
mucopolysaccharidosis-plus syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A
multiple endocrine neoplasia type 2B
multiple endocrine neoplasia type 4
multiple epiphyseal dysplasia type 4
muscular dystrophy, limb-girdle, autosomal dominant +
NAD(P)HX dehydratase deficiency
neurodegeneration with brain iron accumulation +
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
neurohypophyseal diabetes insipidus
neuronopathy, distal hereditary motor, autosomal dominant +
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
NOG-related symphalangism spectrum disorder +
Noonan syndrome with multiple lentigines
normophosphatemic familial tumoral calcinosis
palmoplantar keratoderma-spastic paralysis syndrome
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
plasma protein metabolism disease +
pontocerebellar hypoplasia type 1
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
PROM1-related dominant retinopathy +
pseudohypoparathyroidism +
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
retinoschisis, autosomal dominant
RFT1-congenital disorder of glycosylation
Scapuloperoneal spinal muscular atrophy
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
SLC35A2-congenital disorder of glycosylation
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
sodium channelopathy-related small fiber neuropathy
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
spondyloepimetaphyseal dysplasia with multiple dislocations
spondyloepimetaphyseal dysplasia, PAPSS2 type
spondyloepiphyseal dysplasia tarda, autosomal dominant
spondyloepiphyseal dysplasia with congenital joint dislocations
SSR4-congenital disorder of glycosylation
sterol biosynthesis disorder +
sulfation-related bone disorder
sulfide quinone oxidoreductase deficiency
temtamy preaxial brachydactyly syndrome
thanatophoric dysplasia type 1
thiopurine metabolic disease +
thrombophilia due to protein S deficiency, autosomal dominant
Treacher-Collins syndrome +
trichorhinophalangeal syndrome type I or III
trichorhinophalangeal syndrome type II
tumoral calcinosis, hyperphosphatemic, familial, 2
tumoral calcinosis, hyperphosphatemic, familial, 3
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
vitamin metabolic disorder +
Waldenstrom macroglobulinemia
Wiedemann-Rautenstrauch syndrome
XYLT1-congenital disorder of glycosylation
Zellweger spectrum disorders +
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