Gene Summary

Name:
adenylate cyclase 1
Synonyms:
AC1,  I-AC,  D11Bwg1392e

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
hyperactivity Adcy1tm1b(EUCOMM)Wtsi HOM Late adult 3.89×10-21
abnormal coat/hair pigmentation Adcy1tm1b(EUCOMM)Wtsi HOM Middle aged adult 3.85×10-05
abnormal locomotor behavior Adcy1tm1b(EUCOMM)Wtsi HOM Late adult 5.91×10-05
increased circulating creatine kinase level Adcy1tm1b(EUCOMM)Wtsi HOM Late adult 5.56×10-34
abnormal coat/hair pigmentation Adcy1tm1b(EUCOMM)Wtsi HOM Late adult 9.46×10-06
abnormal gait Adcy1tm1b(EUCOMM)Wtsi HOM Late adult 1.99×10-05
increased mean corpuscular volume Adcy1tm1b(EUCOMM)Wtsi HOM Early adult 6.98×10-05
hyperactivity Adcy1tm1b(EUCOMM)Wtsi HOM Early adult 9.00×10-08
increased circulating phosphate level Adcy1tm1b(EUCOMM)Wtsi HOM Late adult 1.14×10-10
increased leukocyte cell number Adcy1tm1b(EUCOMM)Wtsi HOM Early adult 3.54×10-06
increased circulating creatine kinase level Adcy1tm1b(EUCOMM)Wtsi HOM Early adult 3.59×10-05
increased exploration in new environment Adcy1tm1b(EUCOMM)Wtsi HOM Late adult 9.80×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver 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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen 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)
Vascular system N/A heterozygote 0.0% (0 of 2)
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 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Adcy1 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 Adcy1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 44
OMIM:610154

The table below shows human diseases predicted to be associated to Adcy1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Fair hair, Aggressive behavior, Increased LDL cholesterol concentration OMIM:618808
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... OMIM:615234
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hyperphosphatemia, Polyuria, And Seizures
Irritability, Hyperphosphatemia OMIM:239350
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Cerebral cortical atrophy, Hyp... OMIM:619072
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology OMIM:613724
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic tetany ORPHA:36913
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Abnormality of the anterior commissure, Fusion of the left and right... OMIM:617542
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Phenylketonuria
Fair hair, Anxiety, Hyperactivity, Blue irides, Aggressive behavior, Hyperphenylalaninemia, Irrit... OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Happy demeanor, Hypopigmentation of the skin, Hyperactivity, Ataxia, Ir... ORPHA:411515
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Urocanase Deficiency
Fair hair, Blue irides, Ataxia, Aggressive behavior OMIM:276880
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Mental deterioration, Ataxia, Hypertriglyceridemia OMIM:615924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Autosomal Dominant Hypocalcemia
Abnormality of the nail, Anxiety, Hypocalcemia, Emotional lability, Hyperphosphatemia, Alopecia, ... ORPHA:428
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Small nail, Hyperactivity, Broad-based gait, Aggressive behavior OMIM:619470
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Cognitive impairment, Multiple cafe-au-lait spots, Hyperphosphatemia, Alopecia, Abnormal hair qua... ORPHA:457059
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Neutropenia, Increased mean corpuscular volume, Macrocytic ane... ORPHA:2169
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Frontal upsweep of hair, Aggressive behavior OMIM:300983
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Pseudohypoparathyroidism, Type Ia
Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Coffin-Siris Syndrome 8
Long eyelashes, Thick eyebrow, Hyperactivity, Self-injurious behavior, Aggressive behavior, Spars... OMIM:618362
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Ataxia, Melanin pigment... OMIM:256710
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, Ataxia, Partial albinism, White hair, Iris hypopigment... ORPHA:79476
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of the basal ganglia, Primary microcephaly, Hypoplasia of the olfactory bulb, Small b... ORPHA:300570
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
Classic Phenylketonuria
Hypopigmentation of hair, Memory impairment, Self-injurious behavior, Hypopigmentation of the ski... ORPHA:79254
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Abnormality of thalamus morphology, Focal white matter lesions ORPHA:557003
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... ORPHA:33445
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Falls, Aggressive behavior ORPHA:2382
Juvenile Huntington Disease
Hyperactivity, Dementia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Broad-... ORPHA:248111
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Ataxia, Aggressive behavior OMIM:612716
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Neuroferritinopathy
Abnormality of the basal ganglia, Abnormal caudate nucleus morphology, Caudate atrophy, Iron accu... ORPHA:157846
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Increased serum bile acid concentration, Normocytic anemia, Leukemia, I... ORPHA:811
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormality of thalamus morphology, Abnormal putamen morphology ORPHA:88619
Chromosome Xq25 Duplication Syndrome
Thick eyebrow, Hyperactivity, Sparse eyebrow, Anxiety, Highly arched eyebrow OMIM:300979
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Alazami-Yuan Syndrome
Long eyelashes, Thick eyebrow, Hyperactivity, Highly arched eyebrow, Low anterior hairline, Synop... OMIM:617126
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Neuroleptic Malignant Syndrome
Hyponatremia, Anxiety, Hypocalcemia, Hyperkalemia, Hyperuricemia, Elevated circulating creatine k... ORPHA:94093
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Mental deterioration, Sparse scalp hair ORPHA:2611
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Gait ataxia, Emoti... ORPHA:98818
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Increased circulat... ORPHA:95512
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism ORPHA:85288
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Anxiety, Self-injurious behavior, Hyp... OMIM:271980
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Abnormality of skin pigmentation, Broad-based gait, Aggressive behavior ORPHA:457260
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Sparse eyebrow, Highly arched eyebrow ORPHA:521258
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Abnormal basa... ORPHA:363558
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morp... ORPHA:79264
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal globus pallidus morphology, ... ORPHA:70474
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Waddling gait,... ORPHA:157215
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Hypocalcemia, Hyperactivity, Blue irides, Hyperphosphatemia, Red hair ORPHA:280651
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Calcinosis, Hyperphosphatemia, Hypoca... ORPHA:79444
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... ORPHA:231222
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Cach Syndrome
Cerebral atrophy, T2 hypointense thalamus, Dysgyria, Microcephaly, Dilation of lateral ventricles ORPHA:135
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Thick eyebrow, Hyperactivity, Unsteady gait, Broad-based gait OMIM:617865
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Alopecia, Gait disturbance ORPHA:93160
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Aggressive be... ORPHA:228360
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Acrodysostosis 1 With Or Without Hormone Resistance
Melanocytic nevus, Hyperphosphatemia, Blue irides OMIM:101800
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Intellectual Developmental Disorder, Autosomal Recessive 61
Long eyelashes, Thick eyebrow, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Synophrys OMIM:617773
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Cognitive impairment, Multiple cafe-au-lait ... ORPHA:100
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, Progressive psyc... ORPHA:363400
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Calcinosis, Hyperphosphatemia, Hypoca... ORPHA:79443
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Hypoplastic hippocampus, Primary microcepha... ORPHA:2177
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Microcephaly, Decreased thalamic volume, Type II lissencephaly, Poly... ORPHA:370959
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology, Hypoplasia of ... ORPHA:254930
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Self-biting, Hyperactivity, Hypokalemia OMIM:618314
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Alopecia universalis, Irritability, Hypophosphatemia, Difficulty walking OMIM:277440
Japanese Encephalitis
Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substantia nigra morphology, Abnorm... ORPHA:79139
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hirsutism OMIM:300434
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcephaly, Abnormality of thalamus morphology ORPHA:2959
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Synophrys OMIM:615541
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Elevated circulating creatine kinase concentration, Hyperphos... ORPHA:466650
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity, Secondary mi... ORPHA:485421
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormality of the basal ganglia, Hypointensity of cerebral white matter on MRI, ... ORPHA:83597
Cystinosis
Hypokalemia, Hypophosphatemia, Gait disturbance ORPHA:213
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Highly arched eyebrow, Aggressive behavior OMIM:618342
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior ORPHA:382
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:264700
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Inability to walk, Progressive neurologic deterioration, Ataxia ORPHA:70472
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Autosomal Recessive Spastic Paraplegia Type 23
Spastic gait, Vitiligo, Silver-gray hair, Multiple lentigines, Waddling gait ORPHA:101003
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia ORPHA:59315
Rasmussen Subacute Encephalitis
Cognitive impairment, Memory impairment, Hyperactivity, Inability to walk, Emotional lability, Ir... ORPHA:1929
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... OMIM:209950
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Difficulty walking OMIM:600081
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Leigh Syndrome
Agenesis of corpus callosum, Encephalomalacia, Diffuse spongiform leukoencephalopathy, Focal T2 h... ORPHA:506
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Irritability, Hypophosphatemia, Difficulty walking ORPHA:289157
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Alop... ORPHA:31824
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Happy demeanor, Hypopigmentation of the skin, Ataxia, Iris hypopigmenta... ORPHA:411511
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Difficulty walking, Hypophosphatemia OMIM:241530
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Happy demeanor, Hypopigmentation of the skin, Hyperactivity, Ataxia, Ir... ORPHA:98794
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Agenesis of corpus callosum, Porencephalic cyst, Polymicrog... OMIM:156810
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Self-injurious behavior, Hyperactivity, Ataxia, Highly arched eyebrow, Syn... ORPHA:228402
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Hyperintensity of cerebral white matter on MRI, Cerebral atrophy, T2 hypointense thalamus ORPHA:1947
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune hemolytic anemia, Hyperactivity, Autoimm... ORPHA:760
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Unsteady gait, Progressive ... ORPHA:485350
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Aggressive behavior ORPHA:500180
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Hyperactivity, Inability to walk, Motor deterioration, Ataxia... ORPHA:168491
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hyperactivity, Aggressive behavior, Progressive neurologic deterioration, Synophrys,... OMIM:252920
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Gand Syndrome
Sparse hair, Hyperactivity OMIM:615074
Myoclonic-Astatic Epilepsy
Hyperactivity, Frontal balding, Ataxia, Unsteady gait, Abnormal emotion/affect behavior, Attentio... ORPHA:1942
Cinca Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentra... OMIM:607115
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Synophrys OMIM:615824
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Hyperactivity, Ataxia, Aggressive behavior OMIM:610042
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:300958
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder OMIM:614294
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Hyperactivity, Blue irides, Red hair OMIM:614613
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology ORPHA:48818
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Hyperactivity, Athetosis, Ataxia, Self-mutilation ORPHA:52503
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
Rubinstein-Taybi Syndrome 2
Hyperactivity, Hirsutism, Long eyelashes OMIM:613684
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Secondary microcephaly, Fusion of the left and right thalami, Hypoplasia of the corpus callosum OMIM:619306
Graves Disease, Susceptibility To, 1
Hyperactivity, Onycholysis, Irritability OMIM:275000
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Partial albinism, Iris hypop... ORPHA:79477
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Gait imbalance, Br... ORPHA:98795
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
X-Linked Adrenoleukodystrophy
Cognitive impairment, Hyperactivity, Dementia, Aggressive behavior, Gait disturbance, Attention d... ORPHA:43
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Happy demeanor, Ataxia, Gait disturbance OMIM:614104
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Memory impairment, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Gai... ORPHA:139396
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Hyperactivity, Mental deterioration, Ataxia, Unsteady gait, Emotional ... ORPHA:35069
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Hereditary Cryohydrocytosis With Reduced Stomatin
Microcephaly, Decreased thalamic volume, Cerebral white matter hypoplasia, Intracerebral perivent... ORPHA:168577
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Hyperactivity, Ataxia, Alopecia OMIM:601853
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Hyperactivity, Ataxia, Hypervalinemia, Elevated circulating creatine kinase conce... OMIM:615673
Glass Syndrome
Happy demeanor, Hyperactivity, Nail dysplasia, Aggressive behavior, Sparse hair, Broad-based gait OMIM:612313
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Castleman Disease
Decreased mean corpuscular volume, Anemia, Elevated circulating C-reactive protein concentration,... ORPHA:160
Meningioma
Focal T2 hypointense thalamic lesion, Neoplasm of the posterior pituitary, Increased circulating ... ORPHA:2495
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein concentration,... ORPHA:97214
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Hypointensity of cerebral white matter on MRI ORPHA:845
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Multiple cafe-au-lait spots, Large cafe-au-lait macules with irregu... ORPHA:249
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Self-mutilation OMIM:103050
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Hyperactivity, Mental deterioratio... ORPHA:163681
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Thalamic hemorrhage ORPHA:464321
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Hyperactivity, Elevated... ORPHA:247585
Cri-Du-Chat Syndrome
Premature graying of hair, Anxiety, Hyperactivity, Conspicuously happy disposition, Aggressive be... OMIM:123450
Infantile Nephropathic Cystinosis
Hypokalemia, Cognitive impairment, Abnormal blood ion concentration, Pigmentary retinopathy, Hypo... ORPHA:411629
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis ORPHA:514
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hyperactivity, Motor deterioration, Synophrys, Hirsutism OMIM:252930
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Hyperactivity, Blue irides, Progressive gait ataxia, Bro... OMIM:105830
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Low anterior hairline, Neonatal hyperbilirubinemia, Cafe-au-lait spot, Low posteri... ORPHA:73272
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypopigmentation of hair, Cognitive impairment, Hyp... ORPHA:167
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Aggressive behavior, Synophrys ORPHA:391307
Argininemia
Spastic gait, Hyperactivity, Irritability, Hyperargininemia, Hyperammonemia OMIM:207800
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Highly arched eyebrow, Aggressive behavior OMIM:600430
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Hyperactivity, Gait disturbance, Curly hair, Cafe-au-lait spot ORPHA:457485
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Cystinosis, Nephropathic
Hypopigmentation of hair, Hypokalemia, Hyponatremia, Hypopigmentation of the skin, Hypophosphatem... OMIM:219800
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypopituita... ORPHA:54595
Angelman Syndrome
Fair hair, Happy demeanor, Self-injurious behavior, Hypopigmentation of the skin, Inability to wa... ORPHA:72
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Hypothalami... ORPHA:2822
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Ataxia, Nail dystrophy, Sparse scalp hair, Generalized hypopigmentatio... ORPHA:3322
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Low frustration tolerance, Shuffling gait, Thick eyebrow, Hyperactivity, Aggress... OMIM:300534