Gene Summary

Name:
drebrin 1
Synonyms:
drebrin A,  drebrin E2

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
increased exploration in new environment Dbn1tm1b(KOMP)Wtsi HET   Early adult 6.86×10-06
syndactyly Dbn1tm1b(KOMP)Wtsi HET E15.5 0.00
decreased circulating HDL cholesterol level Dbn1tm1a(KOMP)Wtsi HOM Early adult 7.29×10-07
preweaning lethality, incomplete penetrance Dbn1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal liver morphology Dbn1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal allantois morphology Dbn1em2(IMPC)Mbp HOM E9.5 0.00
decreased body weight Dbn1tm1a(KOMP)Wtsi HOM Early adult 5.71×10-14
increased lean body mass Dbn1tm1b(KOMP)Wtsi HET Early adult 3.39×10-05
preweaning lethality, complete penetrance Dbn1tm1b(KOMP)Wtsi HOM   Early adult 0.00
preweaning lethality, incomplete penetrance Dbn1tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased prepulse inhibition Dbn1tm1b(KOMP)Wtsi HET   Early adult 1.07×10-05
decreased circulating fructosamine level Dbn1tm1a(KOMP)Wtsi HOM Early adult 2.87×10-05
decreased circulating free fatty acids level Dbn1tm1b(KOMP)Wtsi HET Early adult 1.10×10-06
increased circulating creatinine level Dbn1tm1b(KOMP)Wtsi HET Early adult 1.84×10-05
abnormal heart morphology Dbn1tm1b(KOMP)Wtsi HET Early adult 0.00
decreased circulating serum albumin level Dbn1tm1a(KOMP)Wtsi HOM Early adult 1.21×10-05
enlarged heart Dbn1tm1b(KOMP)Wtsi HET Early adult 0.00
increased leukocyte cell number Dbn1tm1a(KOMP)Wtsi HOM Early adult 1.23×10-06
increased CD8-positive, alpha-beta T cell number Dbn1tm1b(KOMP)Wtsi HET   Early adult 0.00
abnormal vertebrae morphology Dbn1tm1b(KOMP)Wtsi HET Early adult 1.98×10-05
increased circulating phosphate level Dbn1tm1b(KOMP)Wtsi HET Early adult 3.20×10-05
microcephaly Dbn1tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal coat appearance Dbn1em1(IMPC)Bay HOM Early adult 5.31×10-06
abnormal embryo size Dbn1tm1b(KOMP)Wtsi HOM E18.5 0.00
increased fasting circulating glucose level Dbn1tm1b(KOMP)Wtsi HET Early adult 7.69×10-06
abnormal embryo turning Dbn1em2(IMPC)Mbp HOM E9.5 0.00
increased circulating magnesium level Dbn1tm1b(KOMP)Wtsi HET Early adult 4.97×10-05
decreased grip strength Dbn1tm1b(KOMP)Wtsi HET Early adult 7.72×10-06
decreased vertical activity Dbn1tm1b(KOMP)Wtsi HET   Early adult 5.44×10-05
increased bone mineral content Dbn1tm1b(KOMP)Wtsi HET Early adult 3.34×10-08
microcephaly Dbn1tm1b(KOMP)Wtsi HET E15.5 0.00
decreased circulating serum albumin level Dbn1tm1b(KOMP)Wtsi HET Early adult 8.10×10-06
increased circulating alkaline phosphatase level Dbn1tm1b(KOMP)Wtsi HET Early adult 3.33×10-05
abnormal chorioallantoic fusion Dbn1em2(IMPC)Mbp HOM E9.5 0.00
decreased total body fat amount Dbn1tm1b(KOMP)Wtsi HET Early adult 9.44×10-12
increased leukocyte cell number Dbn1tm1a(KOMP)Wtsi HET Early adult 5.82×10-08
decreased mean platelet volume Dbn1tm1b(KOMP)Wtsi HET Early adult 3.71×10-06
no spontaneous movement Dbn1tm1b(KOMP)Wtsi HOM E18.5 0.00
hyperactivity Dbn1em1(IMPC)Bay HOM Early adult 6.81×10-10
unresponsive to tactile stimuli Dbn1tm1b(KOMP)Wtsi HET E18.5 0.00
decreased circulating cholesterol level Dbn1tm1b(KOMP)Wtsi HET Early adult 3.53×10-09
increased circulating chloride level Dbn1tm1b(KOMP)Wtsi HET Early adult 2.70×10-07
syndactyly Dbn1tm1b(KOMP)Wtsi HOM E15.5 0.00
increased red blood cell distribution width Dbn1tm1b(KOMP)Wtsi HET Early adult 6.23×10-08
unresponsive to tactile stimuli Dbn1tm1b(KOMP)Wtsi HOM E18.5 0.00
decreased total body fat amount Dbn1tm1a(KOMP)Wtsi HOM Early adult 1.11×10-17
decreased total retina thickness Dbn1tm1b(KOMP)Wtsi HET   Early adult 2.06×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (12 of 24)
Aorta N/A heterozygote 25% (6 of 24)
Blood vessel N/A heterozygote 25% (1 of 4)
Blood N/A heterozygote 0.0% (0 of 8)
Bone marrow N/A heterozygote 0.0% (0 of 8)
Bone N/A heterozygote 29.41% (5 of 17)
Brain N/A heterozygote 100% (24 of 24)
Brainstem N/A heterozygote 62.5% (15 of 24)
Brown adipose tissue N/A heterozygote 0.0% (0 of 22)
Cartilage tissue N/A heterozygote 4.17% (1 of 24)
Cecum N/A heterozygote 50% (7 of 14)
Cerebellum N/A heterozygote 83.33% (20 of 24)
Cerebral cortex N/A heterozygote 66.67% (16 of 24)
Chest bone N/A heterozygote 0.0% (0 of 12)
Colon N/A heterozygote 66.67% (8 of 12)
Cranium N/A heterozygote 12.5% (1 of 8)
Diaphragm N/A heterozygote 0.0% (0 of 12)
Duodenum N/A heterozygote 80% (8 of 10)
Epididymis N/A heterozygote 21.43% (3 of 14)
Esophagus N/A heterozygote 25% (5 of 20)
Eye N/A heterozygote 41.67% (10 of 24)
Gall bladder N/A heterozygote 0.0% (0 of 20)
Gonadal fat pad N/A heterozygote 0.0% (0 of 10)
Harderian gland N/A heterozygote 0.0% (0 of 12)
Heart N/A heterozygote 0.0% (0 of 24)
Hindlimb N/A heterozygote 0.0% (0 of 12)
Hippocampus N/A heterozygote 66.67% (16 of 24)
Hypothalamus N/A heterozygote 66.67% (16 of 24)
Ileum N/A heterozygote 70% (7 of 10)
Jejunum N/A heterozygote 60% (6 of 10)
Kidney N/A heterozygote 75% (18 of 24)
Large intestine N/A heterozygote 83.33% (20 of 24)
Liver N/A heterozygote 0.0% (0 of 24)
Lower urinary tract N/A heterozygote 29.17% (7 of 24)
Lung N/A heterozygote 0.0% (0 of 24)
Lymph node N/A heterozygote 0.0% (0 of 24)
Main olfactory bulb N/A heterozygote 50% (4 of 8)
Mammary gland N/A heterozygote 4.17% (1 of 24)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 10)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 14)
Midbrain N/A heterozygote 83.33% (10 of 12)
Esophagus N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 79.17% (19 of 24)
Oral epithelium N/A heterozygote 8.33% (1 of 12)
Ovary N/A heterozygote 29.17% (7 of 24)
Oviduct N/A heterozygote 33.33% (8 of 24)
Pancreas N/A heterozygote 12.5% (3 of 24)
Parathyroid gland N/A heterozygote 15% (3 of 20)
Parotid gland N/A heterozygote 0.0% (0 of 12)
Penis N/A heterozygote 33.33% (4 of 12)
Peripheral nervous system N/A heterozygote 62.5% (15 of 24)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 20)
Pituitary gland N/A heterozygote 70.83% (17 of 24)
Prostate gland N/A heterozygote 12.5% (3 of 24)
Quadriceps N/A heterozygote 10% (1 of 10)
Sciatic nerve N/A heterozygote 25% (3 of 12)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 20)
Skin N/A heterozygote 12.5% (3 of 24)
Small intestine N/A heterozygote 75% (18 of 24)
Spinal cord N/A heterozygote 100% (24 of 24)
Spleen N/A heterozygote 0.0% (0 of 24)
Stomach pyloric region N/A heterozygote 0.0% (0 of 12)
Stomach N/A heterozygote 58.33% (14 of 24)
Striatum N/A heterozygote 66.67% (16 of 24)
Sublingual gland N/A heterozygote 16.67% (2 of 12)
Submandibular gland N/A heterozygote 7.14% (1 of 14)
Testis N/A heterozygote 41.67% (10 of 24)
Thalamus N/A heterozygote 75% (6 of 8)
Thymus N/A heterozygote 4.17% (1 of 24)
Thyroid gland N/A heterozygote 25% (6 of 24)
Tongue N/A heterozygote 41.67% (5 of 12)
Trachea N/A heterozygote 0.0% (0 of 24)
Trigeminal V nerve N/A heterozygote 57.14% (8 of 14)
Urinary bladder N/A heterozygote 37.5% (6 of 16)
Uterus N/A heterozygote 37.5% (9 of 24)
Vagina N/A heterozygote 0.0% (0 of 12)
Vas deferens N/A heterozygote 14.29% (2 of 14)
Vascular system N/A heterozygote 10% (2 of 20)
Vesicular gland N/A heterozygote 7.14% (1 of 14)
White adipose tissue N/A heterozygote 0.0% (0 of 24)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (7 of 7)
Heart atrium N/A homozygote 100% (3 of 3)
Axial skeleton N/A heterozygote 100% (7 of 7)
Axial skeleton N/A homozygote 100% (3 of 3)
Brain N/A heterozygote 83.33% (15 of 18)
Brain N/A homozygote 83.33% (5 of 6)
Central nervous system ganglion N/A heterozygote 60% (3 of 5)
N/A Ambiguous
Cranium N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Ear N/A heterozygote 77.78% (14 of 18)
Ear N/A homozygote 66.67% (4 of 6)
Embryo N/A heterozygote 100% (18 of 18)
Embryo N/A homozygote 100% (6 of 6)
Outer ear N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Eye N/A heterozygote 88.89% (16 of 18)
Eye N/A homozygote 83.33% (5 of 6)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Footplate N/A heterozygote 55.56% (10 of 18)
Footplate N/A homozygote 0.0% (0 of 6)
Forearm N/A heterozygote 75% (6 of 8)
N/A Ambiguous
Forebrain N/A heterozygote 83.33% (15 of 18)
Forebrain N/A homozygote 83.33% (5 of 6)
Forelimb N/A heterozygote 88.89% (16 of 18)
Forelimb N/A homozygote 83.33% (5 of 6)
Fronto-nasal process N/A heterozygote 85.71% (6 of 7)
Fronto-nasal process N/A homozygote 100% (3 of 3)
Gut N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Handplate N/A heterozygote 55.56% (10 of 18)
Handplate N/A homozygote Ambiguous
Head mesenchyme N/A heterozygote 100% (7 of 7)
Head mesenchyme N/A homozygote 100% (2 of 2)
Head N/A heterozygote 88.89% (16 of 18)
Head N/A homozygote 83.33% (5 of 6)
Heart ventricle N/A heterozygote 100% (7 of 7)
Heart ventricle N/A homozygote 100% (3 of 3)
Heart N/A heterozygote 50% (9 of 18)
Heart N/A homozygote 66.67% (4 of 6)
Hindbrain N/A heterozygote 83.33% (15 of 18)
Hindbrain N/A homozygote 83.33% (5 of 6)
Hindlimb N/A heterozygote 88.89% (16 of 18)
Hindlimb N/A homozygote 83.33% (5 of 6)
Humerus pre-cartilage condensation N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Inner ear N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Intestine N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Liver N/A heterozygote 22.22% (4 of 18)
Liver N/A homozygote 16.67% (1 of 6)
Lower leg N/A heterozygote 75% (6 of 8)
N/A Ambiguous
Lung N/A heterozygote 50% (9 of 18)
Lung N/A homozygote 66.67% (4 of 6)
Mandibular process N/A heterozygote 83.33% (15 of 18)
Mandibular process N/A homozygote 66.67% (4 of 6)
Maxillary process N/A heterozygote 83.33% (15 of 18)
Maxillary process N/A homozygote 66.67% (4 of 6)
Meckel's cartilage N/A heterozygote 100% (5 of 5)
Meckel's cartilage N/A homozygote 100% (3 of 3)
Mesonephros of female N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Mesonephros of male N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Metanephros N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Midbrain N/A heterozygote 83.33% (15 of 18)
Midbrain N/A homozygote 83.33% (5 of 6)
Nasal septum N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Nose N/A heterozygote 80% (8 of 10)
Nose N/A homozygote 100% (3 of 3)
Notochord N/A heterozygote 100% (7 of 7)
Notochord N/A homozygote 100% (3 of 3)
Oral cavity N/A heterozygote 55.56% (10 of 18)
Oral cavity N/A homozygote 66.67% (4 of 6)
Outflow tract N/A heterozygote 100% (7 of 7)
Outflow tract N/A homozygote 100% (3 of 3)
Pancreas N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Pharynx N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 77.78% (7 of 9)
Skeleton N/A homozygote 100% (3 of 3)
Skin N/A heterozygote 61.11% (11 of 18)
Skin N/A homozygote 66.67% (4 of 6)
Spinal cord N/A heterozygote 75% (6 of 8)
Spinal cord N/A homozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 72.22% (13 of 18)
Tail somite N/A homozygote 66.67% (4 of 6)
Tail N/A heterozygote 83.33% (15 of 18)
Tail N/A homozygote 83.33% (5 of 6)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tongue N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Trachea N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Trunk mesenchyme N/A heterozygote 100% (7 of 7)
Trunk mesenchyme N/A homozygote 66.67% (2 of 3)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Upper arm N/A heterozygote 75% (6 of 8)
N/A Ambiguous
Upper leg N/A heterozygote 75% (6 of 8)
N/A Ambiguous
Urinary system N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Vibrissa N/A heterozygote 77.78% (7 of 9)
Vibrissa N/A homozygote 100% (3 of 3)

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
blood vessel
bone 0.0%
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
cranium
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%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
oesophagus
olfactory lobe 0.0%
oral epithelium 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%
peyer's patch
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skeletal muscle tissue
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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa 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 Wholemount

248 Images

X-ray

XRay Images Forepaw

87 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

Adult LacZ

LacZ Images Section

359 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

139 Images

X-ray

XRay Images Whole Body Dorso Ventral

140 Images

X-ray

XRay Images Skull Lateral Orientation

101 Images

Embryo LacZ

LacZ images wholemount

113 Images

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

4 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Hind Leg and Hip

26 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

110 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

MicroCT E18.5

Embryo reconstruction

23 Images

X-ray

XRay Images Forepaw

16 Images

MicroCT E14.5-E15.5

Embryo reconstruction

16 Images

Electrocardiogram (ECG)

Waveform Image

26 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

Gross Pathology and Tissue Collection

Images

9 Images

Combined SHIRPA and Dysmorphology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Sleep Wake

Wake state (bmp file)

3 Images

Gross Morphology Embryo E14.5-E15.5

Images

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Gross Morphology Embryo E9.5

Images

1 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Auditory Brain Stem Response

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

18 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Electroretinography

Cone waveform (pdf format)

3 Images

Electroretinography

Rod waveform (pdf format)

3 Images

Legacy Phenotype Associated Images

View all 472 images

View all 13 images

View all 6 images

View all 6 images

Human diseases caused by Dbn1 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 Dbn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Microcephaly 24, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Primary microcephaly, Cerebellar vermis hypoplasia OMIM:618179
Schizophrenia 15
Hyperactivity OMIM:613950
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Spinal Muscular Atrophy With Impaired Intellectual Development
Microcephaly, Syndactyly OMIM:271109
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, Megalencephaly, ... OMIM:615938
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... OMIM:600384
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Microce... OMIM:211369
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... OMIM:613752
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly OMIM:613681
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Microcephaly, Sandal gap OMIM:251220
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive i... OMIM:618805
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Abnormality of the liver, Retinal degeneration, Decreased LDL... ORPHA:79320
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Secondary microcephaly, Short middle phalanx of the 2nd finger, ... OMIM:614326
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Depression, Osteomalacia, Multiple lipomas, Hypophosphatemia,... OMIM:600740
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc... OMIM:267700
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Lethargy, Hypophosphatemia, Chronic hepati... ORPHA:469
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... OMIM:251255
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly ORPHA:88643
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... ORPHA:3268
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Elevated circulating creatine ki... OMIM:208920
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger ORPHA:391646
Blue Diaper Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased proinsulin:... ORPHA:94086
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Kyphosis, Failure to thrive, Retinopathy, Hyper... OMIM:239000
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, H... ORPHA:94089
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... ORPHA:1667
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Citrullinemia Type Ii
Hepatic steatosis, Delirium, Hepatomegaly, Mania, Hypoproteinemia, Memory impairment, Irritabilit... ORPHA:247585
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Elevated circulating c... OMIM:608104
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Short neck, Enamel hypoplasia, Cog... OMIM:612462
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa... OMIM:619013
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Increa... ORPHA:36913
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cellulitis, Failure to thrive, Lymphocytosis, Thrombocytopenia, E... OMIM:617718
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosi... OMIM:603553
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Short neck, Lipodystrophy,... OMIM:608776
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Short neck, Subcutaneous ossification, Enamel hy... OMIM:103580
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Rod-cone dyst... ORPHA:14
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... ORPHA:166024
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ... OMIM:617872
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Pancreatitis, Hypercalcemia OMIM:145981
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop... OMIM:226990
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... OMIM:614814
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Lymphopenia, Pericardial effusion, Hypocalc... ORPHA:90362
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre... ORPHA:158061
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Decreased liver function, Abnormal heart morphology, Scoliosis, ... ORPHA:79327
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger OMIM:618725
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Ataxia, Howell-Jolly bodies, Depression, Dementia, Sideroblastic anemia, Pappenheimer bodies, Ery... OMIM:301310
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosi... ORPHA:292
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... OMIM:102510
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver... OMIM:617021
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Failure to thri... ORPHA:358
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspart... OMIM:615558
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Anemia, Weight loss, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Genetic Recurrent Myoglobinuria
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Fatigable weakness of... ORPHA:99845
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp... OMIM:127000
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase conce... OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:212065
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Depression, Type I diabetes mellitus, Hypocholesterolemia,... ORPHA:96180
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol... ORPHA:247598
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Pancreatitis, Lipoma, H... ORPHA:405
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypomagnesemia, Leuko... ORPHA:94093
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... OMIM:212140
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transamina... ORPHA:367
Autosomal Dominant Hypocalcemia
Optic atrophy, Depression, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Fatigable weakness, E... ORPHA:428
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypercalcemia OMIM:145980
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Chorioretinal hypopigmentation, Optic atrophy, Inability to walk, Hypertrophic c... OMIM:617303
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia ORPHA:280062
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... OMIM:210250
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... ORPHA:699
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... ORPHA:79319
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Cognitive impairment, Ataxia, Elevated circulatin... OMIM:616267
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Hypoglycemia, Lymphopenia, Hypertriglyceridemia, Ataxia OMIM:617575
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai... ORPHA:88618
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Generalized aminoaciduria, Hepatic failure, Rickets, Fail... ORPHA:2088
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Neurodevelopmental Disorder With Language Delay And Seizures
Attention deficit hyperactivity disorder, Ventricular septal defect, Hypomagnesemia OMIM:619908
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:620152
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Failure ... OMIM:618329
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Angioid streaks of the fundus, Enamel hypoplasia, Subperiosteal ... OMIM:211900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptoc... OMIM:618278
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Depression, Hypocalcemic tetany, Obesity, Confusion, Red... ORPHA:79443
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Spinal canal stenosis, Calvarial hyperostosis, Epiphyseal stipp... OMIM:101800
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... OMIM:602579
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Linear Verrucous Nevus Syndrome
Mental deterioration, Reduced bone mineral density, Retinopathy, Aplasia/Hypoplasia of the fovea,... ORPHA:2611
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... OMIM:619091
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... ORPHA:79324
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Failure ... ORPHA:289157
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia