Gene Summary

Name:
zinc finger, ZZ-type with EF hand domain 1
Synonyms:
C130099L13Rik,  8430405D05Rik

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
abnormal sleep behavior Zzef1tm2.1(KOMP)Vlcg HOM   Early adult 4.90×10-06
decreased circulating HDL cholesterol level Zzef1tm2.1(KOMP)Vlcg HOM Early adult 3.08×10-05
increased circulating alkaline phosphatase level Zzef1tm2.1(KOMP)Vlcg HOM Early adult 1.88×10-08
increased mean corpuscular hemoglobin Zzef1tm2.1(KOMP)Vlcg HOM Early adult 6.29×10-07
absent teeth Zzef1tm2.1(KOMP)Vlcg HOM Early adult 2.51×10-05
increased circulating potassium level Zzef1tm2.1(KOMP)Vlcg HOM Early adult 1.77×10-06
decreased circulating calcium level Zzef1tm2.1(KOMP)Vlcg HOM   Early adult 1.61×10-05
abnormal coat/hair pigmentation Zzef1tm2.1(KOMP)Vlcg HOM Early adult 1.99×10-06
decreased circulating cholesterol level Zzef1tm2.1(KOMP)Vlcg HOM Early adult 4.57×10-05
increased kidney weight Zzef1tm2.1(KOMP)Vlcg HOM Early adult 6.02×10-06
decreased body length Zzef1tm2.1(KOMP)Vlcg HOM Early adult 5.50×10-05
hyperactivity Zzef1tm2.1(KOMP)Vlcg HOM Early adult 8.81×10-05
increased coping response Zzef1tm2.1(KOMP)Vlcg HOM Early adult 1.99×10-05
abnormal kidney morphology Zzef1tm2.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating aspartate transaminase level Zzef1tm2.1(KOMP)Vlcg HOM Early adult 5.80×10-05

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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  Section images heterozygote 100% (6 of 6)
Aorta  Wholemount images  Section images heterozygote 100% (6 of 6)
Bone marrow  Section images heterozygote 66.67% (4 of 6)
Brain  Wholemount images  Section images heterozygote 100% (6 of 6)
Brainstem  Section images heterozygote 33.33% (2 of 6)
Brown adipose tissue  Wholemount images  Section images heterozygote 100% (6 of 6)
Cartilage tissue  Section images heterozygote 33.33% (2 of 6)
Cecum  Wholemount images  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (6 of 6)
Cerebral cortex  Section images heterozygote 33.33% (2 of 6)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Diaphragm  Wholemount images  Section images heterozygote 50% (2 of 4)
Duodenum  Wholemount images  Section images heterozygote 100% (4 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (3 of 6)
Esophagus  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Eye  Wholemount images  Section images heterozygote 100% (6 of 6)
Gall bladder  Wholemount images heterozygote 25% (1 of 4)
Gonadal fat pad  Wholemount images  Section images heterozygote 75% (3 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Heart  Section images heterozygote 33.33% (2 of 6)
Hippocampus  Section images heterozygote 33.33% (2 of 6)
Hypothalamus  Section images heterozygote 33.33% (2 of 6)
Ileum  Wholemount images  Section images heterozygote 100% (4 of 4)
Jejunum  Wholemount images  Section images heterozygote 100% (4 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (6 of 6)
Large intestine  Section images heterozygote 100% (6 of 6)
Liver  Wholemount images  Section images heterozygote 100% (6 of 6)
Lung  Wholemount images  Section images heterozygote 100% (6 of 6)
Lymph node  Section images heterozygote 33.33% (2 of 6)
Mammary gland  Section images heterozygote 16.67% (1 of 6)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric lymph node  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (6 of 6)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (6 of 6)
Ovary  Wholemount images  Section images heterozygote 50% (3 of 6)
Oviduct  Wholemount images  Section images heterozygote 50% (3 of 6)
Pancreas  Wholemount images  Section images heterozygote 100% (6 of 6)
Parathyroid gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Parotid gland  Section images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Peripheral nervous system  Section images heterozygote 33.33% (2 of 6)
Peyer's patch  Section images heterozygote 33.33% (2 of 6)
Pituitary gland  Wholemount images  Section images heterozygote 100% (6 of 6)
Prostate gland  Section images heterozygote 16.67% (1 of 6)
Quadriceps  Wholemount images  Section images heterozygote 75% (3 of 4)
Sciatic nerve  Wholemount images  Section images heterozygote 75% (3 of 4)
Skeletal muscle  Section images heterozygote 33.33% (2 of 6)
Skin  Wholemount images  Section images heterozygote 100% (6 of 6)
Small intestine  Section images heterozygote 100% (6 of 6)
Spinal cord  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Spleen  Wholemount images  Section images heterozygote 100% (6 of 6)
Stomach  Wholemount images  Section images heterozygote 100% (6 of 6)
Striatum  Section images heterozygote 33.33% (2 of 6)
Sublingual gland  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 66.67% (4 of 6)
Testis  Wholemount images  Section images heterozygote 50% (3 of 6)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Thyroid gland  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Tongue  Wholemount images  Section images heterozygote 100% (4 of 4)
Trachea  Wholemount images  Section images heterozygote 83.33% (5 of 6)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (6 of 6)
Uterus  Wholemount images  Section images heterozygote 50% (3 of 6)
Vagina  Section images heterozygote 25% (1 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Vascular system  Section images heterozygote 33.33% (2 of 6)
Vesicular gland  Wholemount images  Section images heterozygote 33.33% (2 of 6)
White adipose tissue  Section images heterozygote 33.33% (2 of 6)
Blood N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
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%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

242 Images

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Wholemount

70 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

X-ray

XRay Images Skull Lateral Orientation

26 Images

Sleep Wake

Wake state (bmp file)

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

26 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Forepaw

26 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

1 Images

Human diseases caused by Zzef1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zzef1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Hypocalcemia, Splenomegaly, Alopecia ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hirsutism, Hepatosplenomegaly, Splenomegaly, Hy... OMIM:612526
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypocalcemia, Nephrocalcinosis, Hyperphosphatemia OMIM:146200
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria, Nephrolithiasis, Long eyelashes ORPHA:163693
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Dental malocclusion, Hyperactivity, Abnormal renal morphology, Dental ... OMIM:610883
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Oculoskeletodental Syndrome
Retrognathia, Abnormality of the frontal hairline, Hypocalcemia, Oligodontia, Abnormality of the ... ORPHA:557003
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly ORPHA:172
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Anorexia, Nail dystrophy, Anemia, Hypokalemia, Hyperpigmentation of the skin, Hyp... OMIM:175500
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair, Aggressive behavior OMIM:618808
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Delay... ORPHA:94089
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology, Nephropathy, Delayed eruption of teeth ORPHA:2238
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia, Nephrocalcinosis OMIM:211000
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Calcium nephrolithiasis, Hypocalce... ORPHA:36913
Phenylketonuria
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Generalized hypopigmentat... OMIM:261600
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypophosphatemia ORPHA:89937
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia, Nephrolithiasis, Long eyelashes, Cystine crystalluria, Tented upper lip... OMIM:606407
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Squalene Synthase Deficiency
Irritability, Retrognathia, Hypospadias, Increased circulating farnesol concentration, Elevated u... OMIM:618156
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Albers-Sch├Ânberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology, Abnormality of the dentition, Carious teeth,... ORPHA:53
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating corticosterone level, Increased circulati... OMIM:610600
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Carious teeth, Hypocalcemic tetany ORPHA:93324
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Ring Chromosome 10 Syndrome
Thin vermilion border, Renal hypoplasia/aplasia, Hypocalcemia, Micrognathia, Long philtrum ORPHA:1438
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Glycine Encephalopathy 1
Irritability, Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Aggress... OMIM:605899
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypercalciuria, Oligodontia, Low posterior hairline, Mucopolysacchari... OMIM:618440
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Hypocalcemia, E... OMIM:612462
Autosomal Dominant Hypocalcemia
Irregular hyperpigmentation, Hypocalcemia, Abnormality of the nail, Hypercalciuria, Depression, E... ORPHA:428
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, High palate, Alveolar ridge overgrowth, Micrognathia... OMIM:235255
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Renal hypoplasia/aplasia, Thrombocytopenia, Hypercalcemia, Renal insufficiency ORPHA:2123
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Anemia, Hypocalcemia, Alopecia, Glossoptosis, Sinusitis, Thrombocytop... ORPHA:47
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Hypocalcemia, Carious teeth, Hypomagnesemia OMIM:244460
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Hyperprolinemia,... OMIM:239500
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Abnormality of the dentition, Nephrolithiasis, Premature loss of primary teeth, Hyp... ORPHA:93160
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating C-reactive protein concentration, Abnormality of the nail, Hypoca... ORPHA:247353
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hemoly... ORPHA:57
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemic seizures, Generalized aminoaciduria, Delayed eruption of teeth, Hypoca... OMIM:264700
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, High palate, Hyponatremia, Renal hy... OMIM:617913
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Abnormal dental enamel morphology, Polyphagia, Episodic hemolytic anemia, Increa... ORPHA:251004
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentratio... OMIM:248250
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, High palate, Alveolar rid... ORPHA:1655
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Abnormality of the nail, Abno... ORPHA:3352
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Hypocalcemic seizures, Hypocalcemia, Micrognathia, Bifid uvula, Long philt... OMIM:241410
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Generalized hirsutism, Anonychia, Renal insufficiency ORPHA:1563
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Rhabdoid Tumor
Irritability, Renal neoplasm, Hematuria, Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Hypocalcemia, Carious teeth, Thromb... OMIM:259700
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemic seizures, Hepatomegaly, Generalized aminoaciduria, Delayed eruption of... ORPHA:289157
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Oliguria, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia... ORPHA:31824
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting, Increased circulating renin level OMIM:203400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Narrow mouth, Sparse eyebrow, Micrognathia, Hypocholesterolemia, Micr... OMIM:618810
Celiac Disease, Susceptibility To, 1
Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Recurrent aphthous stomatitis, Hypocalcem... OMIM:212750
Zimmermann-Laband Syndrome
Supernumerary tooth, Hepatomegaly, Hypoplastic fingernail, Gingival fibromatosis, Anterior open-b... ORPHA:3473
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Nail dystrophy, Decreased number of sweat glands, Yellow-brown discoloration... ORPHA:69087
Juvenile Nephropathic Cystinosis
Polydipsia, Low-molecular-weight proteinuria, Hypokalemia, Renal phosphate wasting, Hypocalcemia,... ORPHA:411634
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Low posterior hairline, Leukopenia, Splenomegaly, Neutropenia, Hirsutism, Focal ... OMIM:617303
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypophosphatasia
Irritability, Abnormality of the dentition, Hypercalcemia, Anemia ORPHA:436
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Uncombable hair, Abnormality of the dentition, Abnormality of r... ORPHA:1264
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Renal Hypoplasia, Bilateral
Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl... ORPHA:97362
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Long upper lip, Recurrent hand flapping, Compulsive behaviors, Impulsiv... OMIM:309548
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Anemia OMIM:620366
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Wide mouth, Splenomegaly, Long philtrum, Hypoalbuminem... OMIM:608776
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Urinary incontinence, Hyperuricemia, Hypocalcemia, ... ORPHA:94093
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B... ORPHA:199306
Sanjad-Sakati Syndrome
Thin vermilion border, Hypoplasia of penis, Hypocalcemia, Abnormal dental enamel morphology, Abno... ORPHA:2323
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Hyperactivity, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Elevated circulating... OMIM:266510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Hypospadias, Hypopigmentation of hair, Narrow mouth, Generalized... ORPHA:1355
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Leukopenia, Pancytopenia, Hypocalcemia, Renal tubular acidosis, Tooth malposition, ... ORPHA:2785
Maternal Uniparental Disomy Of Chromosome 4
Depression, Neurogenic bladder, Elevated circulating creatine kinase concentration, Abetalipoprot... ORPHA:96180
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Alazami-Yuan Syndrome
Highly arched eyebrow, Hyperactivity, Dental crowding, Hirsutism, High palate, Narrow mouth, Syno... OMIM:617126
Timothy Syndrome
Hypocalcemia, Cardiomegaly, Microdontia, Thin upper lip vermilion OMIM:601005
Osteopetrosis, Autosomal Recessive 5
Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hy... OMIM:259720
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Nephrocalcino... OMIM:611590
Hartnup Disorder
Hyperactivity, Emotional lability, Glossitis, Attention deficit hyperactivity disorder, Elevated ... OMIM:234500
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Micrognathia, Hypomagnesemia, Renal d... OMIM:618183
Cholera
Acute kidney injury, Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal ... ORPHA:173
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Hypophosphatasia, Infantile
Anorexia, Irritability, Anemia, Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyr... OMIM:241500
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Long eyelashes, Renal hypoplasia, Hyperechogenic ki... OMIM:617595
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Adamantinoma
Hypercalcemia ORPHA:55881
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus ORPHA:3319
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia, Renal salt wasting, Hyperaldosteronism OMIM:264350
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administr... ORPHA:79444
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Nail dystrophy, Neutropenia, Iron deficiency anemia, Reduced proport... ORPHA:37042
Hypoadrenocorticism, Familial
Hyperkalemia, Abnormality of skin pigmentation, Hyponatremia OMIM:240200
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomega... ORPHA:848
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Oligodontia, Sparse eyelashes, Sparse lateral eyebrow, ... ORPHA:1787
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Ectopic kidney, Short philtrum, Delayed eruption of teeth, Hyp... ORPHA:2136
Gracile Bone Dysplasia
Hypocalcemia, Ankyloglossia, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Normocytic anemia, Renal salt wasting, Hyperpigmentation of the skin, Hyp... ORPHA:95409
Rothmund-Thomson Syndrome
Nail dysplasia, Aplastic anemia, Small nail, Hypopigmentation of the skin, Microdontia, Sparse ha... ORPHA:2909
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:177735
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis OMIM:239199
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria, Hypercalcemia ORPHA:284400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Pulp calcification, Enamel hypoplasia... OMIM:211900
Blue Diaper Syndrome
Blue urine, Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia ORPHA:94086
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Brittle hair, Highly arche... OMIM:617412
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Griscelli Syndrome Type 2
Premature graying of hair, Hepatomegaly, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia... ORPHA:79477
Pearson Syndrome
Steatorrhea, Reticulocytosis, Hypophosphatemia, Splenomegaly, Dysphagia, Lacticaciduria, Neutrope... ORPHA:699
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-cha... OMIM:608836
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Hypocalcemia, Recurrent urinary tract infections, Increased circulating myel... ORPHA:36234
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Hepatomegaly, Thick lower lip vermilion, Short philtrum, Highly arched eye... OMIM:618342
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting, Decreased circulating cortisol level OMIM:614736
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Long eyelashes, Inappropriate laughter, Tented upper lip vermilion, Craniofacial os... OMIM:618476
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Urinary incontinence, Dental crowding, Eruption failure, High palate, Compulsive b... ORPHA:476126
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen... OMIM:619902
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Recurrent urinary tract infections, Vesicoureter... ORPHA:502
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Velocardiofacial Syndrome
Retrognathia, Hypocalcemia, Emotional lability, Velopharyngeal insufficiency, Cleft palate, Pierr... OMIM:192430
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hyperactivity OMIM:615924
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease... ORPHA:94059
Cranioectodermal Dysplasia 1
High, narrow palate, Hepatomegaly, Widely spaced teeth, Thin nail, Slow-growing hair, Hypocalcemi... OMIM:218330
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Hypocalcem... ORPHA:31826
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... OMIM:616730
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Smith-Magenis Syndrome
Hypertriglyceridemia, Orofacial cleft, Everted upper lip vermilion, Head-banging, Hyperactivity, ... OMIM:182290
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypocalcemia, Hypercalciuria, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia ORPHA:682
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Depression, Parathormone-independent increased renal tubular calc... OMIM:600740
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Short philtrum, Hypocalcemia, Micropenis, Thin upper lip vermilion OMIM:607143
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administr... ORPHA:79443
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hyperc... OMIM:239200
Classic Phenylketonuria
Hypopigmentation of hair, Depression, Hyperphenylalaninemia, Hypopigmentation of the skin, Attent... ORPHA:79254
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Mandibular prognathia, Hypopigmentation of the skin, Pol... ORPHA:411515
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Short philtrum, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Thrombocyt... ORPHA:163979
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypokalemia, Reduced circulating cortisol-binding globulin concentration, Decreased circu... OMIM:611489
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Hypospadias, Micropenis OMIM:614732
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia, Glucocortocoid-insensitive primary... ORPHA:171876
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Hyperpigmentation of the skin, ... ORPHA:168569
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Leukonychia, Long upper lip, High palate, Abnormality of the dentition, Spar... ORPHA:77258
Oncogenic Osteomalacia
Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting ORPHA:352540
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Delayed eruption of teeth, Hyperactivity, High palate, Sparse scalp... OMIM:223370
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Cleft upper lip, Cleft palate, Hyperechogenic kidneys OMIM:613885
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Enamel hypoplas... OMIM:103580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Trichorhinophalangeal Syndrome, Type Iii
Supernumerary tooth, Dental crowding, Sparse lateral eyebrow, Sparse hair, Smooth philtrum, Long ... OMIM:190351
Addison Disease
Hyperkalemia, Anorexia, Normocytic anemia, Renal salt wasting, Hyperpigmentation of the skin, Hyp... ORPHA:85138
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism ORPHA:79476
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Impaired renal tubular ... OMIM:604278
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Calvarial osteosclerosis, Nephrolithiasis, Hypercalcemia, Hyperphosphatemia OMIM:617994
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Infantile Myofibromatosis
Irregular hyperpigmentation, Abnormality of the kidney, Gingival fibromatosis, Abnormal hair morp... ORPHA:2591
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Thin vermilion border, Glomerulopathy, Supernumerary tooth, Abnormal hair morphology, Microscopic... ORPHA:86818
Familial Hypoaldosteronism
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Hyponatremia, Proximal renal... ORPHA:427
Acrootoocular Syndrome
Grayish enamel, Supernumerary tooth, High, narrow palate, Dental malocclusion, Hyperpigmented nev... ORPHA:2980
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperpigmentation of the skin, Hyperactivity, Nephrolithiasi... OMIM:619827
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone ORPHA:3145
East Syndrome
Polydipsia, Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomag... ORPHA:199343
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Long philtrum, Hair-pulling, Nail-biting, Hypocalcemia, Emotional lability, Mandibular prognathia... OMIM:620330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Penoscrotal hypospadias, Hypospadias, Hyperpigmentation of the ... ORPHA:90791
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Liddle Syndrome
Nephropathy, Hypokalemia, Renal insufficiency ORPHA:526
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatomegaly, Anemia, Hyperuricemia, Tubuloin... ORPHA:79259
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol l... ORPHA:320
Mirage Syndrome
Hyperkalemia, Anemia, Hypospadias, Recurrent urinary tract infections, Microphallus, Hyponatremia... OMIM:617053
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Micrognathia OMIM:618272
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... OMIM:232220
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Highly arched eyebrow, Hyperactivity, Polyphagia, Everted lower lip vermilio... ORPHA:228402
Hyperlysinemia, Type I
Argininuria, Anemia, Hyperactivity, Hyperlysinemia, Hypoornithinemia, Ornithinuria, Hyperlysinuri... OMIM:238700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Glucocorticoid Deficiency
Hyperkalemia, Anorexia, Renal salt wasting, Recurrent urinary tract infections, Hyponatremia, Hyp... ORPHA:361
Trichodermodysplasia-Dental Alterations Syndrome
Supernumerary tooth, Sparse or absent eyelashes, Brittle hair, Delayed eruption of teeth, Sparse ... ORPHA:3353
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Double Outlet Right Ventricle
Hypocalcemia, Submucous cleft hard palate, Cleft palate, Narrow mouth ORPHA:3426
Craniofacioskeletal Syndrome
Hypospadias, Short philtrum, Hypocalcemia, Hypoplastic frontal sinuses, Micrognathia, Hydronephro... OMIM:300712
Schwartz-Jampel Syndrome
Everted lower lip vermilion, Abnormal eyebrow morphology, Long philtrum, Irritability, Nephrolith... ORPHA:800
Cleidocranial Dysplasia
Supernumerary tooth, Dystrophic fingernails, High, narrow palate, Delayed eruption of teeth, Abno... ORPHA:1452
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Impulsivity, Wide mouth, Few cafe-au-lait spots, Dysphagia, Bruxism, Medial flar... OMIM:619503
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Urinary incontinence, Iron deficiency anemia, Hypokalemia, Renal tub... ORPHA:358
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Abnormal hair morphology, Oligodontia, Microdontia, Abnormal fingern... OMIM:604625
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria, Hyp... OMIM:212065
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Tiger tail banding, Coarse hair OMIM:616390
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, Highly arched eyebrow, Hyperactivity, Hirsutism,... OMIM:613684
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Cafe-au-lait spot, Hypercalcemia, Proteinuria, Axillary fr... OMIM:171420
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Cartilage-Hair Hypoplasia
Abnormal palate morphology, Hepatomegaly, Anemia, Hypocalcemia, Gingival overgrowth, Mucopolysacc... ORPHA:175
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Thick hair, Heavy proteinuria, Long eyelashes, Nephrotic syndrome, Abnor... ORPHA:505248
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Anemia OMIM:127000
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Delayed eruption of teeth, Hypocalcemia, Abnormality of hair texture, Prema... ORPHA:667
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multi... OMIM:613095
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Alg12-Cdg
Hypospadias, Short philtrum, Small nail, B lymphocytopenia, Low posterior hairline, Hyponatremia,... ORPHA:79324
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency ORPHA:35710
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hyperaldost... OMIM:613677
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Anemia, He... OMIM:276700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolyti... OMIM:608885
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Hepatomegaly, Hypotriglyceridemia, ... ORPHA:14
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
22Q11.2 Deletion Syndrome
Splenomegaly, Multiple renal cysts, Long philtrum, Hypospadias, Short philtrum, Hypocalcemia, Pol... ORPHA:567
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Dental malocclusi... OMIM:234100
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... OMIM:232200
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Metaphyseal Chondrodysplasia, Jansen Type
Tooth malposition, Hypercalciuria, Hyperphosphaturia, Micrognathia, Nephrocalcinosis, Hypercalcem... OMIM:156400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Pigmentary retinopathy, Left ventricular hypertrophy ORPHA:746
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Leukocytosi... ORPHA:544482
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Tooth agenesis, Wide mouth, Long philtrum, Advance... ORPHA:818
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Liver Disease, Severe Congenital
Nail dystrophy, Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopenia, Splenomegaly, Cardiom... OMIM:619991
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Nephrocalcinosis, Hypoph... ORPHA:534
Kaufman Oculocerebrofacial Syndrome
High palate, Narrow mouth, Carious teeth, Sparse eyebrow, Micrognathia, Sparse hair, Smooth philt... OMIM:244450
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair, Aminoaciduria OMIM:250900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth, Lymphopenia, Reduced natural kill... OMIM:619752
Rabson-Mendenhall Syndrome
Premature graying of hair, Polydipsia, Advanced eruption of teeth, Thick hair, Hypokalemia, Long ... ORPHA:769
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Orofaciodigital Syndrome I
Supernumerary tooth, Polycystic kidney dysplasia, High palate, Ankyloglossia, Alveolar ridge over... OMIM:311200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Tangier Disease
Hypertriglyceridemia, Nail dystrophy, Anemia, Hepatosplenomegaly, Thrombocytopenia, Left ventricu... ORPHA:31150
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Supernumerary tooth, Nail dystrophy, Delayed eruption of teeth, Absent... OMIM:268400
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Abnormality of the kidney, Hypopigmentatio... ORPHA:895
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hyperpigmentation o... ORPHA:231226
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Beta-Thalassemia Major
Anisopoikilocytosis, Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia... ORPHA:231214
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hypospadias, Hyperactivity, Mandibular prognathia, Malar flattening, Blue irides, Fair ... OMIM:614613
Lead Poisoning
Abnormal T cell morphology, Anorexia, Decreased HDL cholesterol concentration, Anemia, Delayed er... ORPHA:330015
Orofacial Cleft 15
High anterior hairline, Palate fistula, Bilateral cleft palate, Distichiasis, Sparse eyelashes, S... OMIM:616788
Cyanosis, Transient Neonatal
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia OMIM:267200
Liddle Syndrome 1
Decreased circulating renin level, Renal insufficiency, Hypokalemia OMIM:177200
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Anemia, Decreased glomerular filtration rate, Acute... ORPHA:340
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Anemia, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent uri... ORPHA:93598
Diaphanospondylodysostosis
Enlarged kidney, Hypoplastic fingernail, Nephroblastomatosis, Micrognathia, Nephrogenic rest, Cle... OMIM:608022
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Nance-Horan Syndrome
Supernumerary tooth, Mandibular prognathia, Abnormality of the dentition ORPHA:627
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Renal salt wasting, Xanthelasma, Anemia, Steatorrhea, Vacuola... ORPHA:275761
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Widely-spaced maxillary central incisors, Hypospadias, Short philtrum... ORPHA:363686
Cystinosis
Polydipsia, Hypokalemia, Nephropathy, Hypophosphatemia, Motor stereotypy, Proteinuria, Renal insu... ORPHA:213
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Narrow palate, Hypospadias, Pil... ORPHA:353281
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hyperplasia of the maxilla, Anemia, Malar prominence, Reti... ORPHA:846
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia, Sialadenitis ORPHA:64744
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Hyperactivity, Everted lower lip vermilion, Microdontia, Wide mouth, Dysphagia, ... OMIM:615873
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Small nail, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ... ORPHA:364577
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Abnormal circulating lipid concentration, ... ORPHA:381
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Hypopigmentation of hair, Tongue thrusting, Mandibular prognathia, Hypopigme... ORPHA:411511
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:601678
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Vitamin D-Dependent Rickets, Type 2A