Gene Summary

Name:
presenilin 1
Synonyms:
PS-1,  Ad3h,  presenilin-1,  PS1,  S182

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 startle reflex Psen1tm1.1(KOMP)Vlcg HET Early adult 3.46×10-05
abnormal limb morphology Psen1tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal limb morphology Psen1tm1.1(KOMP)Vlcg HOM E18.5 0.00
edema Psen1tm1.1(KOMP)Vlcg HET E15.5 0.00
hemorrhage Psen1tm1.1(KOMP)Vlcg HOM E18.5 0.00
abnormal tail morphology Psen1tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal tail morphology Psen1tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal tail morphology Psen1tm1.1(KOMP)Vlcg HOM E18.5 0.00
unresponsive to tactile stimuli Psen1tm1.1(KOMP)Vlcg HOM E18.5 0.00
preweaning lethality, complete penetrance Psen1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
edema Psen1tm1.1(KOMP)Vlcg HOM E18.5 0.00
cyanosis Psen1tm1.1(KOMP)Vlcg HOM E18.5 0.00
edema Psen1tm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (5 of 5)
Aorta  Section images heterozygote 80% (4 of 5)
Bone marrow  Section images heterozygote 100% (3 of 3)
Brain  Section images heterozygote 100% (5 of 5)
Brainstem  Section images heterozygote 80% (4 of 5)
Brown adipose tissue  Section images heterozygote 100% (3 of 3)
Cartilage tissue  Section images heterozygote 80% (4 of 5)
Cerebellum  Section images heterozygote 100% (5 of 5)
Cerebral cortex  Section images heterozygote 80% (4 of 5)
Colon  Section images heterozygote 100% (1 of 1)
Diaphragm  Section images heterozygote 100% (1 of 1)
Duodenum  Section images heterozygote 100% (1 of 1)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Esophagus  Section images heterozygote 100% (5 of 5)
Eye  Section images heterozygote 100% (5 of 5)
Gonadal fat pad  Section images heterozygote 100% (1 of 1)
Harderian gland  Section images heterozygote 100% (1 of 1)
Heart  Section images heterozygote 80% (4 of 5)
Hippocampus  Section images heterozygote 40% (2 of 5)
Hypothalamus  Section images heterozygote 40% (2 of 5)
Ileum  Section images heterozygote 100% (1 of 1)
Kidney  Section images heterozygote 100% (5 of 5)
Large intestine  Section images heterozygote 100% (5 of 5)
Liver  Section images heterozygote 100% (5 of 5)
Lung  Section images heterozygote 100% (5 of 5)
Lymph node  Section images heterozygote 40% (2 of 5)
Mammary gland  Section images heterozygote 40% (2 of 5)
Midbrain  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Section images heterozygote 100% (5 of 5)
Ovary  Section images heterozygote 40% (2 of 5)
Oviduct  Section images heterozygote 40% (2 of 5)
Pancreas  Section images heterozygote 100% (5 of 5)
Penis  Section images heterozygote 100% (1 of 1)
Peripheral nervous system  Section images heterozygote 40% (2 of 5)
Peyer's patch  Section images heterozygote 40% (2 of 5)
Pituitary gland  Section images heterozygote 60% (3 of 5)
Quadriceps  Section images heterozygote 100% (1 of 1)
Sciatic nerve  Section images heterozygote 100% (1 of 1)
Skeletal muscle  Section images heterozygote 80% (4 of 5)
Skin  Section images heterozygote 100% (5 of 5)
Small intestine  Section images heterozygote 100% (5 of 5)
Spinal cord  Section images heterozygote 80% (4 of 5)
Spleen  Section images heterozygote 100% (5 of 5)
Stomach  Section images heterozygote 100% (5 of 5)
Striatum  Section images heterozygote 40% (2 of 5)
Sublingual gland  Section images heterozygote 100% (1 of 1)
Submandibular gland  Section images heterozygote 100% (3 of 3)
Testis  Section images heterozygote 40% (2 of 5)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (5 of 5)
Thyroid gland  Section images heterozygote 80% (4 of 5)
Tongue  Section images heterozygote 100% (1 of 1)
Trachea  Section images heterozygote 100% (5 of 5)
Trigeminal V nerve  Section images heterozygote 100% (1 of 1)
Urinary bladder  Section images heterozygote 100% (3 of 3)
Uterus  Section images heterozygote 40% (2 of 5)
Vas deferens  Section images heterozygote 100% (1 of 1)
Vascular system  Section images heterozygote 80% (4 of 5)
Vesicular gland  Section images heterozygote 33.33% (1 of 3)
White adipose tissue  Section images heterozygote 40% (2 of 5)
Blood N/A heterozygote 0.0% (0 of 1)
Cecum N/A heterozygote 0.0% (0 of 1)
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Lower urinary tract N/A heterozygote 40% (2 of 5)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 5)
Stomach pyloric region N/A heterozygote Not available
Vagina 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 66.67% (4 of 6)
Embryo N/A homozygote Ambiguous
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 66.67% (4 of 6)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 66.67% (4 of 6)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 66.67% (4 of 6)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 66.67% (4 of 6)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 66.67% (4 of 6)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 66.67% (4 of 6)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 66.67% (4 of 6)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 66.67% (4 of 6)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 66.67% (4 of 6)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 66.67% (4 of 6)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 66.67% (4 of 6)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 50% (3 of 6)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 50% (3 of 6)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 66.67% (4 of 6)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 66.67% (4 of 6)
Maxillary process N/A homozygote Ambiguous
N/A Ambiguous
Meckel's cartilage N/A homozygote Ambiguous
Midbrain N/A heterozygote 66.67% (4 of 6)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (3 of 6)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 50% (3 of 6)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (4 of 6)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 66.67% (4 of 6)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood 0.0%
bone marrow 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
diaphragm 0.0%
duodenum 3.82% (5 of 131)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
ileum 13.33% (16 of 120)
jejunum 9.23% (12 of 130)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 292)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

134 Images

Embryo LacZ

LacZ images wholemount

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

Sleep Wake

Wake state (bmp file)

15 Images

Gross Morphology Embryo E14.5-E15.5

Images

8 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Forepaw

9 Images

MicroCT E18.5

Embryo reconstruction

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Gross Morphology Embryo E18.5

Images

4 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Psen1 mutations

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

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

The table below shows human diseases associated to Psen1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Psen1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Lipedema
Edema OMIM:614103
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Cerebral cortex with spongiform changes, Neurofibrillary tangles OMIM:605055
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr... OMIM:616185
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... OMIM:400044
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
Alzheimer Disease 9, Susceptibility To
Hippocampal atrophy, Cerebral cortical atrophy, Neurofibrillary tangles OMIM:608907
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Omphalocele ORPHA:85174
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... OMIM:229070
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Lymphatic Malformation 2
Lymphedema OMIM:611944
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles OMIM:619132
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax ORPHA:93304
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Costal cartilage calcification, Chondrocalcinosis, Costochondr... OMIM:118610
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... OMIM:615411
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Dilatio... OMIM:607432
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Hemivertebrae, Unilateral vertebral ... OMIM:613686
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormality of the abdominal wall, Lumbar hyperlordosis, Narrow vertebral interpedicular distance... OMIM:602557
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... OMIM:609813
Dementia, Lewy Body
Lewy bodies OMIM:127750
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Pectus carinatum, ... OMIM:609223
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, O... ORPHA:93267
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Alzheimer Disease 4
Cerebral amyloid angiopathy, Neurofibrillary tangles OMIM:606889
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles OMIM:616840
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Facial palsy, Subarachnoid hemo... ORPHA:36382
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Schneckenbecken Dysplasia
Narrow chest, Narrow vertebral interpedicular distance, Short ribs, Platyspondyly, Short neck, An... OMIM:269250
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Prune belly, Thoracolumbar scoliosis, Cervical ribs, Omphalocele OMIM:601389
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Short digit, Rhizomelic arm shortening... ORPHA:397715
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Platyspondyly, Herniation of intervertebral nuclei, Int... OMIM:601216
Femoral-Facial Syndrome
Vertebral segmentation defect, Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the... ORPHA:1988
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Trigonocephaly 1
Lumbar hemivertebrae, Omphalocele OMIM:190440
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles OMIM:607485
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Cerebral amyloid angiopathy, Neurofibrillary tangles OMIM:117300
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Partial agene... OMIM:604213
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... OMIM:271630
Acalvaria
Hydrocephalus, Holoprosencephaly, Omphalocele, Abnormality of neuronal migration, Spina bifida ORPHA:945
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607822
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... OMIM:224300
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Spondylocamptodactyly
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly OMIM:600000
Caudal Duplication
Vertebral segmentation defect, Myelomeningocele, Bifid sacrum, Omphalocele, Abnormal sacrum morph... ORPHA:1756
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Pectus carinatum, Interver... OMIM:271530
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Thanatophoric Dysplasia Type 2
Narrow chest, Kyphosis, Hydrocephalus, Limitation of joint mobility, Holoprosencephaly, Redundant... ORPHA:93274
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Thanatophoric Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Hydrocephalus, Redundant skin, Hip dysplasia, Platyspond... ORPHA:2655
Slc35A2-Cdg
Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contracture, Failure to thrive in infan... ORPHA:356961
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Hemiparkinsonism-Hemiatrophy Syndrome
Brain atrophy, Cerebral cortical hemiatrophy, Scoliosis, Hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the ver... ORPHA:2790
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognat... ORPHA:2522
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Boomerang Dysplasia
Narrow chest, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature... ORPHA:1263
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... OMIM:108720
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Abnormal bone structur... ORPHA:485
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Intraventricular hemorrhage, Scoliosis, Vertebral compression fracture OMIM:616507
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Hydrocephalus, Coarse metaphyseal trabecularization, Hal... ORPHA:2635
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr... ORPHA:101029
Fibrochondrogenesis
Narrow chest, Wide anterior fontanel, Short ribs, Camptodactyly of finger, Short neck, Abnormal f... ORPHA:2021
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Short neck, Hammertoe, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosi... OMIM:618000
Severe X-Linked Intellectual Disability, Gustavson Type
Brain atrophy, Small for gestational age, Micrognathia, Recurrent upper respiratory tract infecti... ORPHA:3078
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesi... OMIM:300067
Marshall-Smith Syndrome
Hydrocephalus, Pectus excavatum, Short sternum, Accelerated skeletal maturation, Slender finger, ... OMIM:602535
Brachyolmia Type 2
Platyspondyly OMIM:613678
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Pectus excavatum, Clinodactyly of the 5th finger, Cutis laxa, Craniosynosto... OMIM:619451
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Schmorl's node, Platyspondyly OMIM:604864
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Anomalous pulmonary venous return, Camptodac... ORPHA:2311
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... OMIM:611603
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Diaphanospondylodysostosis
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... ORPHA:66637
Fanconi Anemia, Complementation Group I
Decreased body weight, Decreased response to growth hormone stimulation test, Absent thumb, Pallo... OMIM:609053
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly OMIM:616583
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Familial Congenital Mirror Movements
Fused cervical vertebrae, Agenesis of corpus callosum ORPHA:238722
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Micromelia, Spina bifida occulta, Pectus carin... ORPHA:64755
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Brain Small Vessel Disease 2
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria OMIM:614483
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... ORPHA:1801
Thanatophoric Dysplasia Type 1
Hydrocephalus, Excessive wrinkled skin, Femoral bowing, Platyspondyly, Micromelia, Bowing of the ... ORPHA:1860
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Malan Overgrowth Syndrome
Pectus excavatum, Accelerated skeletal maturation, Scoliosis, Slender long bone, Lateral ventricl... ORPHA:420179
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Familial Afibrinogenemia
Miscarriage, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis ORPHA:98880
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebra... ORPHA:40
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Osteogenesis Imperfecta, Type Ix
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Pectus carinatum... OMIM:259440
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Omphalocele
Omphalocele ORPHA:660
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Intraventricular hemorrhage, Scoliosis, Death in adolescence, Neonatal death,... OMIM:619055
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Hypothyroidism, Congenital, Nongoitrous, 4
Severe postnatal growth retardation, Wide anterior fontanel, Omphalocele, Umbilical hernia OMIM:275100
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Cutis Laxa, Autosomal Recessive, Type Iib
Failure to thrive, Hydrocephalus, Pectus excavatum, Bruising susceptibility, Excessive wrinkled s... OMIM:612940
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Hypermobility of interphalangeal joints, Cervical he... ORPHA:508498
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Micrognathia OMIM:221950
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Platyspondyly ORPHA:163665
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies OMIM:614251
Ring Chromosome 21 Syndrome
Holoprosencephaly, Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Abnormal thorax m... ORPHA:1445
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Bilateral talipes equinovarus, Micrognathia, Short neck, Lateral ventricle dila... ORPHA:284417
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cyanosis And Hepatic Disease
Cyanosis, Clubbing OMIM:219400
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Omphalocele OMIM:258320
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Ovoid vertebral bodie... OMIM:609052
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Advanced ossification of carpal bones, Kyphoscoliosis, Decreased body weight, ... OMIM:615349
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Parkinson Disease 21
Lewy bodies OMIM:616361
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Morquio Syndrome C
Platyspondyly OMIM:252300
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... ORPHA:331
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Stroke, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of ne... OMIM:300049
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles ORPHA:1020
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... OMIM:305620
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Chilblain Lupus 2
Edema OMIM:614415
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Anauxetic Dysplasia 3
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Pectus excavatum, Metaphyseal ... OMIM:618853
Second Metatarsal-Metacarpal Syndrome
Platyspondyly OMIM:269630
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Platyspondyly, Scoliosis, Anterior rib cupping, Thoracic hypoplasia OMIM:602271
Distal Monosomy 10Q
Failure to thrive, 2-3 toe cutaneous syndactyly, Lumbar hyperlordosis, Pectus excavatum, Clinodac... ORPHA:96148
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Kyphosis, Abnormal sternum morphology, Medial calcification of medium-sized arte... OMIM:177850
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Pulmo... OMIM:265000
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Isolated Hemihyperplasia
Myelomeningocele, Scoliosis, Asymmetry of the thorax, Inguinal hernia ORPHA:2128
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Scarf Syndrome
Short sternum, Cutis laxa, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, P... ORPHA:3134
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Cyanosis, Hydrops fetalis, Pulmonar... ORPHA:2414
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax ORPHA:93283
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... OMIM:184100
Mosaic Trisomy 1
2-3 finger syndactyly, Finger clinodactyly, Pulmonary hypoplasia, Complete duplication of thumb p... ORPHA:1692
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Accelerated skeletal maturation, Craniosynostosis, Osteopenia, Metacarpophalangeal... OMIM:245600
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Bro... OMIM:612852
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies OMIM:619133
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Hypophosphatasia, Infantile
Failure to thrive, Stillbirth, Widely patent fontanelles and sutures, Metaphyseal cupping, Bowing... OMIM:241500
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Tapered finger, Short finger OMIM:302000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Flexion contracture, Small for gestational age, Partial agenesis of the corpus ... ORPHA:79243
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Fibrochondrogenesis 1
Wide anterior fontanel, Joint contracture of the hand, Thin ribs, Short ribs, Long clavicles, Thi... OMIM:228520
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Overlapping toe, 2-3 toe syndactyly, Cerebral atrophy, Adducted thumb, Contracture of t... ORPHA:464738
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Dysplastic corpus callosum, Clinodactyly of the 5th finger, Tapered toe, Dilated thir... ORPHA:544488
Lamb-Shaffer Syndrome
Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia ORPHA:530983
Diaminopentanuria
Neurodegeneration OMIM:222350
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Miller-Dieker Syndrome
Growth delay, Lissencephaly, Omphalocele ORPHA:531
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Cervical vertebral bodies with decreased anteroposterior diame... OMIM:606842
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, S... ORPHA:93352
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb OMIM:108450
Non-Functioning Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... ORPHA:91349
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Omphalocele, Abnormally ossified vertebrae ORPHA:3035