Gene Summary

Name:
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Synonyms:
Dat1,  DAT

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
absent teeth Slc6a3tm1b(KOMP)Wtsi HOM Early adult 5.63×10-07
increased circulating sodium level Slc6a3tm1b(KOMP)Wtsi HET Early adult 1.12×10-10
decreased circulating free fatty acids level Slc6a3tm1b(KOMP)Wtsi HET Early adult 5.19×10-07
increased heart weight Slc6a3tm1b(KOMP)Wtsi HET Early adult 4.64×10-10
abnormal tooth morphology Slc6a3tm1b(KOMP)Wtsi HOM Early adult 3.38×10-06
hyperactivity Slc6a3tm1b(KOMP)Wtsi HET Early adult 4.95×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography 2

Rod and cone PDF

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Slc6a3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc6a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Infantile Dystonia-Parkinsonism
Chorea, Irritability, Bradykinesia ORPHA:238455
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia OMIM:613135

The table below shows human diseases predicted to be associated to Slc6a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Isolated Growth Hormone Deficiency, Type Iv
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... OMIM:618157
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... OMIM:173100
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:300425
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... OMIM:221750
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test, Acromicria, Short stature, Reduced circula... OMIM:612781
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Autism
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Taurodontism
Taurodontia OMIM:272700
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur... OMIM:618160
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Pituitary dw... OMIM:262710
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Memory impairm... ORPHA:251623
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ... OMIM:300123
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71526
Panhypopituitarism, X-Linked
Panhypopituitarism, Pituitary dwarfism OMIM:312000
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... OMIM:612079
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, Truncal ataxia... OMIM:608636
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation OMIM:617171
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Steatocystoma Multiplex
Natal tooth OMIM:184500
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Difficulty walking, Ina... OMIM:300148
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism... OMIM:616784
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Endocardial Fibroelastosis
Cognitive impairment, Sandal gap, Anterior hypopituitarism, Cryptorchidism ORPHA:2022
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion... OMIM:614963
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Short stature ORPHA:1261
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism OMIM:612702
Cog2-Cdg
Small pituitary gland, Psychomotor deterioration ORPHA:435934
Rhyns Syndrome
Hypoplastic ilia, Hypopituitarism, Small epiphyses, Abnormal acetabulum morphology, Abnormal long... ORPHA:140976
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Short stature, Anterio... OMIM:182230
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:300495
Kearns-Sayre Syndrome
Anterior hypopituitarism, Ataxia ORPHA:480
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... ORPHA:275864
Non-Acquired Isolated Growth Hormone Deficiency
Genu valgum, Delayed puberty, Abdominal obesity, Short stature, Growth delay, Anterior hypopituit... ORPHA:631
Temple Syndrome
Precocious puberty, Small hand, Decreased response to growth hormone stimulation test, Postnatal ... ORPHA:254516
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
N-Acetylaspartate Deficiency
Broad-based gait, Short attention span, Self-mutilation, Truncal ataxia, Unsteady gait, Motor ste... OMIM:614063
4H Leukodystrophy
Mental deterioration, Decreased response to growth hormone stimulation test, Abnormality of thyro... ORPHA:289494
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism OMIM:614880
Oliver-Mcfarlane Syndrome
Severe short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypo... OMIM:275400
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Galloway-Mowat Syndrome 6
Growth delay, Decreased response to growth hormone stimulation test, Intrauterine growth retardat... OMIM:618347
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Septopreoptic Holoprosencephaly
Precocious puberty, Short attention span, Central diabetes insipidus, Dysphagia, Anterior hypopit... ORPHA:280195
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test, Aggressive behavior, Hy... OMIM:615286
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Triple A Syndrome
Short stature, Adrenal insufficiency, Anterior hypopituitarism, Ataxia ORPHA:869
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Proximal p... ORPHA:502430
Ziegler-Huang Syndrome
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... OMIM:620501
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Cryptorchidism, Cognitive impairment, Brachydactyly, Short stature, Ante... ORPHA:2863
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test, Short stature, Waddling gait OMIM:616224
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio... ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy OMIM:612069
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Decreased response to growth hormone stimulation test, Decreased testicular size, Sel... ORPHA:457240
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia OMIM:304800
Spinocerebellar Ataxia Type 27
Memory impairment, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, G... ORPHA:98764
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, Hy... OMIM:300942
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:620152
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... OMIM:620651
X-Linked Hypohidrotic Ectodermal Dysplasia
Short distal phalanx of finger, Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism ORPHA:181
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect DECIPHER:39
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... ORPHA:453533
Rhyns Syndrome
Radial bowing, Decreased response to growth hormone stimulation test, Short stature, Brachydactyl... OMIM:602152
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Boomerang Dysplasia
Finger syndactyly, Decreased response to growth hormone stimulation test, Abnormal tibia morpholo... ORPHA:1263
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Growth delay, Increased circulating prolactin concentration, Decreased circulating T4... ORPHA:99832
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I... ORPHA:2410
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters OMIM:226650
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Failure to thrive, Severe short stature OMIM:245590
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Williams-Beuren Region Duplication Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Attenti... OMIM:609757
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo... OMIM:608747
Hyperprolactinemia
Increased circulating prolactin concentration OMIM:615555
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypopituitarism, Dec... ORPHA:90695
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H... ORPHA:3008
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Prominent fingertip pads, Failure to thrive, Bilateral cryptorchidism, Decrease... ORPHA:485405
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, ... OMIM:600795
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Decreased response to growth hormone stimulation test, Postnatal growth ret... OMIM:614732
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test, Abnormal toe morphology, Aplasia/Hypoplasi... OMIM:216100
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Arachnodactyly, Hypothyroidism, Short stature OMIM:619013
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Partial atrioventricular canal defect, Impulsivity, Hyperactivity... OMIM:620423
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Toe syndactyly, Anterior hypopituitarism, Hypothalamic hamartoma, Pos... OMIM:241800
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Depression, Decreased response to growth hormone stimulation test, Hyper... OMIM:601853
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:608049
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis OMIM:615508
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Giant Axonal Neuropathy
Falls, Difficulty walking, Genu valgum, Distal sensory impairment, Unsteady gait, Abnormal pituit... ORPHA:643
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... ORPHA:91351
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Anorexia ORPHA:178029
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Panhypopituitarism, Decreased testicular size, Intrauterine growth retardation,... OMIM:300953
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy OMIM:617830
Spinocerebellar Ataxia 21
Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Cognitive impairme... OMIM:607454
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Decreased respo... OMIM:610978
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Abnormal epiphysis morp... ORPHA:90674
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia ORPHA:627
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98793
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98754
Myopathy, Mitochondrial, And Ataxia
Depression, Increased circulating prolactin concentration, Difficulty walking, Inability to walk,... OMIM:617675
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... ORPHA:94089
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:177904
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:177901
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Paresthesia, Adrenocorticotropic h... ORPHA:251937
Immunodeficiency 54
Failure to thrive, Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retar... OMIM:609981
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Small hand, Decreased response to growth hormone ... OMIM:300845
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Manganese Poisoning
Memory impairment, Confusion, Inappropriate laughter, Akinesia, Aggressive behavior, Gait disturb... ORPHA:306682
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Motor stereotypy, Irritability OMIM:617393
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Hypohidrosis, Growth delay, Failure to thrive ORPHA:98813
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard... OMIM:606407
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
15Q24 Microdeletion Syndrome
Small hand, Clinodactyly, Failure to thrive, Decreased response to growth hormone stimulation tes... ORPHA:94065
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Genu valgum, Short stature, Hip dislocation ORPHA:436174
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Inability to walk OMIM:617820
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Intrauterine growth ret... ORPHA:363528
Pseudohypoparathyroidism Type 1C
Polyphagia, Short metacarpal, Broad distal phalanx of the thumb, Depression, Short 3rd metacarpal... ORPHA:79444
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:177735
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Delayed puberty, Failure to thrive, Growth delay OMIM:600462
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Hypopituitarism, Addictive alcohol use, Hypothyroidism, Cognitive impairment, ... ORPHA:90065
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Intrauterine gr... OMIM:180860
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism OMIM:264350
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Hip dysplasia, ... OMIM:601427
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ... ORPHA:174
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Avascular... ORPHA:93308
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... OMIM:617412
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:1435
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Hypothyroidism, Ataxia ORPHA:324737
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Aromatic L-Amino Acid Decarboxylase Deficiency
Failure to thrive, Increased circulating prolactin concentration, Irritability, Hyperhidrosis, Sh... ORPHA:35708
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Snakebite Envenomation
Hypopituitarism, Neuromuscular dysphagia, Pseudobulbar paralysis ORPHA:449285
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Sel... OMIM:618922
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Abnormal de... ORPHA:69087
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Proximal placement of thumb OMIM:618624
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... ORPHA:1897
Acrootoocular Syndrome
Small for gestational age, Short toe, Sandal gap, Short finger, Decreased response to growth horm... ORPHA:2980
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Fanconi Anemia, Complementation Group W
Absent thumb, Decreased response to growth hormone stimulation test, Intrauterine growth retardat... OMIM:617784
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Cognitive impairment, Progressive cerebellar ataxia ORPHA:98773
Pseudohypoparathyroidism Type 1A
Polyphagia, Short metacarpal, Choreoathetosis, Broad distal phalanx of the thumb, Depression, Sho... ORPHA:79443
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Pi... ORPHA:199299
Kallmann Syndrome
Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased testicular s... ORPHA:478
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Unilateral cleft lip, Micrognathia, Malar flattening, Oligodontia, Supernume... ORPHA:1787
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... OMIM:101800
Zimmermann-Laband Syndrome
Bifid uvula, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossia, High palate... ORPHA:3473
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Dominant Beta-Thalassemia
Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Genu valgum, ... ORPHA:231226
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogonadism, Absence of puber... ORPHA:398069
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogona... ORPHA:398079
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,... OMIM:615516
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas... ORPHA:2232
Sheehan Syndrome
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:91355
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Genu valgum, Ch... OMIM:216550
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Co... ORPHA:561854
Fg Syndrome Type 1
Small pituitary gland, Attention deficit hyperactivity disorder, Short stature, Cryptorchidism ORPHA:93932
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Polyphag... ORPHA:293987
Meningioma
Increased circulating prolactin concentration, Difficulty walking, Emotional lability, Neoplasm o... ORPHA:2495
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Severe short stature, Clinodactyly, Bilateral cryptorchidism, Decreased response to growth hormon... OMIM:618336
Trichorhinophalangeal Syndrome Type 2
Abnormality of the dentition, Long philtrum, Abnormal palate morphology, Thin upper lip vermilion... ORPHA:502
Wiedemann-Steiner Syndrome
Rhizomelia, Clinodactyly, Failure to thrive, Decreased response to growth hormone stimulation tes... ORPHA:319182
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Depression, Somatic sensory dysfunction, Increased circulating prolactin concentration, Difficult... ORPHA:502423
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponatremia, Restl... ORPHA:100924
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed puberty... ORPHA:280679
Perry Syndrome
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Disinhibition, Frontotemporal dem... OMIM:168605
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Neurodegeneration With Brain Iron Accumulation 5
Dementia, Aggressive behavior, Akinesia, Mental deterioration OMIM:300894
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Trichorhinophalangeal Syndrome, Type Iii
Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth OMIM:190351
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ... OMIM:618728
Prader-Willi Syndrome
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorchidis... OMIM:176270
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Beta-Thalassemia Major
Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Genu valgum, ... ORPHA:231214
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ... ORPHA:2177
Landau-Kleffner Syndrome
Memory impairment, Short attention span, Gait ataxia, Aggressive behavior, Attention deficit hype... ORPHA:98818
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,... ORPHA:1827
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Decreased response to growth hormone stimulation test, Postnatal growth retardation, ... OMIM:241410
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Long philtrum, Micrognathia, Long upper lip, High palate, Supernume... ORPHA:77258
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Deeah Syndrome
Impaired pain sensation, Decreased response to growth hormone stimulation test, Panhypopituitaris... OMIM:619004
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Short stature, Diabetes insipid... ORPHA:3157
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Decreased response to growth hormone stimulation... OMIM:609053
Classic Progressive Supranuclear Palsy Syndrome
Mental deterioration, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Social and occupa... ORPHA:240071
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia OMIM:619718
Isolated Cleft Lip
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... ORPHA:199302
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Gait ataxia, Stereotypical hand wringing, Compulsive ... OMIM:618917
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Delayed epiphyseal ossification, Congenital hip dislocation, Growth delay, Fl... OMIM:616007
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Supernumerary tooth, Persistence of primary teeth OMIM:619752
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Xq28 (MECP2) duplication
Depression, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Short stature, Anterior hypopituitarism OMIM:147250
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Loss of ambulation, Dysphagia, Cognitive impairment, Motor deteri... ORPHA:79264
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Premature adrenarche, Clinodactyly, Failure to thrive, Decreased response to ... ORPHA:96182
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Difficulty walking, Abnormal tibia morphology, Ovarian cyst... ORPHA:249
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia