Gene Summary

Name:
protein tyrosine phosphatase, receptor type, S
Synonyms:
Ptpt9,  PTP-NU3,  RPTPsigma,  PTPsigma

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Ptprstm1b(KOMP)Mbp HET Early adult 0.00
abnormal uterus morphology Ptprstm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ptprstm1b(KOMP)Mbp HOM   Early adult 0.00
hydrometra Ptprstm1b(KOMP)Mbp HET Early adult 0.00
enlarged heart Ptprstm1b(KOMP)Mbp HET Early adult 0.00
hyperactivity Ptprstm1b(KOMP)Mbp HET   Early adult 1.11×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 25% (2 of 8)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 25% (2 of 8)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 25% (2 of 8)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 25% (2 of 8)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 25% (2 of 8)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 25% (2 of 8)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 25% (2 of 8)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 25% (2 of 8)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 8)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 25% (2 of 8)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 25% (2 of 8)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 25% (2 of 8)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 25% (2 of 8)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 25% (2 of 8)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 25% (2 of 8)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 25% (2 of 8)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 25% (2 of 8)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 8)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 25% (2 of 8)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 25% (2 of 8)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 25% (2 of 8)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
blood 0.0%
bone marrow 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cecum 3.17% (11 of 347)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
chest bone Unavailable
colon 9.17% (11 of 120)
diaphragm 0.0%
duodenum 0.88% (1 of 114)
epididymis 13.28% (17 of 128)
esophagus 1.57% (6 of 381)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.19% (1 of 540)
hindlimb 0.0%
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
ileum 10.92% (13 of 119)
jejunum 4.96% (6 of 121)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
stomach pyloric region 0.0%
striatum 0.55% (3 of 547)
sublingual gland 0.0%
submandibular gland 1.59% (2 of 126)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
tongue 4.39% (5 of 114)
trachea 0.55% (3 of 547)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.11% (15 of 365)
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 1.72% (1 of 58)
brain 1.09% (5 of 460)
central nervous system ganglion 1.56% (1 of 64)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
gut 1.92% (1 of 52)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
nose 1.43% (1 of 70)
oral cavity 0.22% (1 of 455)
placenta 14.29% (5 of 35)
skeleton 1.54% (1 of 65)
skin 0.21% (1 of 469)
spinal cord 0.0%
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)
trachea 1.89% (1 of 53)
urinary system 1.72% (1 of 58)

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

141 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

36 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ptprs 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 Ptprs by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism... OMIM:612702
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Cachexia ORPHA:2576
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
8p23.1 deletion syndrome
Cryptorchidism, Atrial septal defect, Hyperactivity, Abnormal heart morphology, Atrioventricular ... DECIPHER:39
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size OMIM:614880
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Severe short stature, Decreased serum insulin-like growth factor 1... OMIM:618157
Bardet-Biedl Syndrome 19
Hyposmia, Obesity, Hypogonadism OMIM:615996
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism, Obesity, Diabetes mel... OMIM:610628
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Primary amenorrhea, Cryptorchidi... OMIM:618841
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea OMIM:614839
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia, Primary amenorrhea, Cryptorchidism, Hypogonadism, Decreased testicular size OMIM:616030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Primary amenorrhea, Azoospermia, Cryptorchidism, Hyposmia, Decreased testicular size OMIM:614897
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Azoospermia,... OMIM:614837
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular size OMIM:614858
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism, Decreased serum testo... OMIM:614841
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Agenesis of corpus callosum, Cryptorc... OMIM:147950
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Abnormality of thalamus morphology, Hyposmia, Leukoencephalopathy, Hypergonadotropic... OMIM:613724
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Microcephaly, Short stature, Short nasal septum, Short nose, Depressed nasal bridge, Hyp... OMIM:302950
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Immunodeficiency 8
Hyperactivity OMIM:615401
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, S... ORPHA:231720
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Pituitary dwarfism, Anterior hypopituitar... OMIM:221750
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Anosmia, D... OMIM:308700
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Non-Acquired Panhypopituitarism
Infertility, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Anterior pituitary ... ORPHA:90695
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Premature ... ORPHA:398079
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Growth delay, Increased circulating T4 level, Decreased circulating free T3, Short statu... ORPHA:171706
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia, Hypogonadism OMIM:615267
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Anosmia, D... OMIM:308750
Ane Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Delayed puberty, Abnormal response ... ORPHA:157954
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased ... ORPHA:91355
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Diabetes insipidus, Short stature, Ab... OMIM:182230
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Cryptorchi... ORPHA:2232
Diencephalic Syndrome
Decreased body weight, Cachexia ORPHA:1672
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Anosmia OMIM:113480
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia OMIM:614842
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Decreased circula... OMIM:301033
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Short stature, Delayed puberty OMIM:274190
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism, Anosmia, Decreased testicular size OMIM:614838
Tuberculosis
Weight loss ORPHA:3389
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Infertility, Primary amenorrhea, Premature pubarche, Central hypothyroidis... ORPHA:398069
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Anosmia OMIM:612370
Cog2-Cdg
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... ORPHA:435934
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving th... ORPHA:1135
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Pulmonary Blastoma
Weight loss ORPHA:64741
Huntington Disease
Cerebral atrophy, Caudate atrophy, Degeneration of the striatum, Abnormal libido, Abnormality of ... ORPHA:399
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Septo-optic dysplasia, Decreased response to growth hormone stimulation test, Decrea... ORPHA:95494
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea OMIM:244200
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypopituitarism, Cryptorchidism, Short stature... OMIM:615849
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Short stature, Decreased serum insulin-like growth factor 1, Hypop... ORPHA:67045
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosu... ORPHA:3157
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypogonadism, Central hypothyroidism OMIM:616113
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Anosmia, P... ORPHA:478
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 level, ... ORPHA:226307
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Delayed puberty, Amenorrh... ORPHA:95619
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Hyperactivity, Ventricular septal defect, Attention deficit hyperacti... OMIM:618504
Johnson Neuroectodermal Syndrome
Anosmia, Bulbous nose, Severe short stature, Choanal atresia, Microcephaly, Failure to thrive, Hy... ORPHA:2316
Meningioma
Focal T2 hypointense thalamic lesion, Decreased serum estradiol, Increased circulating prolactin ... ORPHA:2495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Recurrent upper respiratory tract infections, Decreased circula... ORPHA:293978
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Joubert Syndrome 38
Small pituitary gland, Short stature, Decreased serum insulin-like growth factor 1, Decreased res... OMIM:619476
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Obesity OMIM:617885
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Septo-optic dysplasia, Primary amenorrhea, Abnormality of the hypothalamus-pituit... ORPHA:95496
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Midnasal stenosis, Anterior hypopituitarism, Choanal atresia... OMIM:147250
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Adrenocorticotropic hormone deficiency, Ovarian cyst, Oligosperm... ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Gorlin Syndrome
Cerebral calcification, Hypogonadotropic hypogonadism, Cryptorchidism, Wide nasal bridge, Abnorma... ORPHA:377
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Small for gestational age, Severe intrauterine growth retardatio... ORPHA:231144
Fg Syndrome Type 1
Small pituitary gland, Slender build, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, ... ORPHA:93932
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Anosmia, Choanal stenosis, Growth delay, Microcephaly, Short statu... OMIM:147770
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea, Precocious puberty OMIM:604931
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Intrauterine growth retardation, Hypoplasti... ORPHA:2177
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Morm Syndrome
Micropenis, Hyperactivity ORPHA:75858
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropic ... ORPHA:2965
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Hypothyroidism, Anosmia, Depressed nasal ridge, Ab... ORPHA:442
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Renpenning Syndrome
Severe short stature, Growth delay, Cachexia ORPHA:3242
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Deviated nasal septum, Anosmia, Wide nasal bridge OMIM:600679
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Acromelic Frontonasal Dysplasia
Broad nasal tip, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Hypopituitarism, Cry... ORPHA:1827
Idiopathic Achalasia
Weight loss ORPHA:930
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Ichthyosis And Male Hypogonadism
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Anosmia, Male hypogonadism OMIM:308200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Intrauterine growth retardation, Failure to thrive in infancy OMIM:616801
Bardet-Biedl Syndrome 17
Hyposmia, Anosmia, Obesity, Hypogonadism OMIM:615994
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Premature Ovarian Failure 7
Hypoplasia of the uterus, Premature ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Hyperactivity, Dextrocardia, Attention deficit hyperactivity disorder, Abnormal c... OMIM:614294
Christianson Syndrome
Cachexia ORPHA:85278
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, Abnormality of the sense of smell, Short stature ORPHA:3201
Deeah Syndrome
Decreased body weight, Intrauterine growth retardation, Anterior pituitary hypoplasia, Panhypopit... OMIM:619004
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Abnormality of the nares, Short nose ORPHA:1295
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Aredyld Syndrome
Short stature, Intrauterine growth retardation, Cachexia ORPHA:1133
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the corpus callos... OMIM:619479
Pelizaeus-Merzbacher Disease
Short stature, Cachexia, Failure to thrive in infancy ORPHA:702
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Anosmia, Abnormality of the hypothalamus-pituitary axis, Azoosperm... ORPHA:251066
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Hypogonadotropic hypogonadism, Anteverted nares, Underdeveloped nasolabial fold,... ORPHA:177907
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Isaacs Syndrome
Weight loss ORPHA:84142
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Chronic Hiccup
Weight loss ORPHA:396
Hydrolethalus
Agenesis of corpus callosum, Cryptorchidism, Anencephaly, Abnormality of the sense of smell, Abse... ORPHA:2189
Marcus-Gunn Syndrome
Postnatal growth retardation, Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Anterior pitu... OMIM:206900
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Pituitary null cell adenoma, Amenorr... ORPHA:251937
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia ORPHA:298
Silver-Russell Syndrome
Intrauterine growth retardation, Failure to thrive in infancy, Obesity, Short stature, Cachexia, ... ORPHA:813
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Short stature, Anosmia, Wide nasal bridge OMIM:210745
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Short stature, Intrauterine growth retardation, Cachexia ORPHA:371364
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Premature Ovarian Failure 6
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612310
Huntington Disease-Like 2
Weight loss ORPHA:98934
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Depressed nasal bridge, Maternal diab... ORPHA:563612
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Short stature, Anosmia ORPHA:2057
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
19Q13.11 Microdeletion Syndrome
Growth delay, Failure to thrive, Intrauterine growth retardation, Cachexia ORPHA:217346
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity OMIM:617126
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:603041
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Cryptorchidism, Micropenis, Dysplastic tricuspid valv... OMIM:618280
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Total anosmia, Growth delay, Short stature, Bilateral cryptorchidi... ORPHA:2326
Aural Atresia, Congenital
Hyposmia OMIM:607842
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Dyrk1A-Related Intellectual Disability Syndrome
Intrauterine growth retardation, Anterior pituitary hypoplasia, Small for gestational age, Crypto... ORPHA:464306
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Microcephaly, Thyroiditis, Short stature, Decreased serum insulin-like growth factor 1, Postnatal... OMIM:618985
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian i... OMIM:615300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Micropenis, Blind vagina, Aplasia of th... ORPHA:90797
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia, Miscarriage ORPHA:99928
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Atrial septal defect, Hyperactivity, Abnormal heart morphology, Attention deficit... ORPHA:352490
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Cryptorchidism, Hypoplasia of the olfactory bulb, Hyposmia, ... ORPHA:2250
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly OMIM:615924
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Parkinson Disease 8, Autosomal Dominant
Substantia nigra gliosis, Lewy bodies, Hyposmia OMIM:607060
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Fragile X Syndrome
Hyperactivity, Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal OMIM:300624
Rett Syndrome
Short stature, Cachexia OMIM:312750
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Holoprosencephaly 9
Abnormal cortical gyration, Single naris, Anterior pituitary hypoplasia, Panhypopituitarism, Cryp... OMIM:610829
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Testicular atrophy, Cardi... OMIM:235200
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Short stature, ... OMIM:301035
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Ciliary Dyskinesia, Primary, 1
Anosmia, Chronic rhinitis, Nasal polyposis, Recurrent bronchitis, Male infertility OMIM:244400
Coffin-Siris Syndrome 7
Abnormal heart morphology, Hyperactivity, Abnormal cardiac septum morphology OMIM:618027
14Q22Q23 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum, Anterior pituitary h... ORPHA:264200
Hirschsprung Disease
Short stature, Weight loss, Failure to thrive in infancy ORPHA:388
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Cryptorchidism, Hyperactivity, Precocious puberty, Ventricular septal defect... ORPHA:3306
Young-Onset Parkinson Disease
Hyposmia, Male sexual dysfunction, Female sexual dysfunction ORPHA:2828
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:400044
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
X-Linked Intellectual Disability, Cabezas Type
Short stature, Obesity, Cachexia ORPHA:85293
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Huntington Disease-Like 2
Weight loss OMIM:606438
Amed Syndrome, Digenic
Hypoplasia of the uterus, Attention deficit hyperactivity disorder OMIM:619151
Moebius Syndrome
Abnormality of the sense of smell, Death in infancy, Hypogonadotropic hypogonadism, Breast aplasia ORPHA:570
Meacham Syndrome
Tetralogy of Fallot, Conotruncal defect, Cryptorchidism, Abnormal vagina morphology, Atrial septa... ORPHA:3097
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Holoprosencephaly
Absent nares, Anosmia, Diabetes insipidus, Failure to thrive in infancy, Depressed nasal ridge, P... ORPHA:2162
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Abnormality... ORPHA:284160
Seckel Syndrome
Short stature, Intrauterine growth retardation, Cachexia ORPHA:808
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Primary Myelofibrosis
Cachexia ORPHA:824
Focal Myositis
Weight loss ORPHA:48918
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Dysplastic pulmonary valve OMIM:300958
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Hyperactivity OMIM:615824
Xfe Progeroid Syndrome
Severe short stature, Failure to thrive, Cachexia OMIM:610965
Mend Syndrome
Cryptorchidism, Hyperactivity, Aortic valve stenosis OMIM:300960
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism, Aplasia of the nose, ... OMIM:603457
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Hyperactivity, Pulmonic stenosis OMIM:619239
Refsum Disease, Classic
Anosmia OMIM:266500
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Imperforate hymen OMIM:237100
Waardenburg Syndrome, Type 4C
Cryptorchidism, Anosmia, Hypogonadism, Lacrimal gland hypoplasia OMIM:613266
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Leopard Syndrome 1
Depressed nasal ridge, Cryptorchidism, Aplasia of the ovary, Short stature, Hyposmia, Delayed men... OMIM:151100
Kufor-Rakeb Syndrome
Hyposmia, Anosmia OMIM:606693
Hereditary Late-Onset Parkinson Disease
Hyposmia, Lewy bodies, Cerebral cortical atrophy, Weight loss ORPHA:411602
Hodgkin Lymphoma
Weight loss ORPHA:98293
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism OMIM:300143
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty ORPHA:457260
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge, Short stature ORPHA:140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Anterior pituitary hypoplasia, Slender build, Cryptorchidism, Supernu... ORPHA:466791
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Whipple Disease
Cachexia ORPHA:3452
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Mast Cell Sarcoma
Weight loss ORPHA:66661
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell, Intrauterine growth retardation ORPHA:958
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Attention deficit hyperactivity disorder OMIM:618798
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrotum, Ambiguous geni... ORPHA:83628
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Cryptorchidism, Prominent nasolabial fold, Failure to thrive, Depressed na... OMIM:619503
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556037
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Refsum Disease
Anosmia ORPHA:773
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Chordee, Intrauterine growth retardation, Miscarriage, Bilateral cryptorchidism, ... ORPHA:96179
47,Xyy Syndrome
Varicocele, Cryptorchidism, Azoospermia, Hyperactivity, Micropenis, Oligospermia, Macroorchidism,... ORPHA:8
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism ORPHA:85327
Trisomy 18
Growth delay, Short stature, Intrauterine growth retardation, Cachexia ORPHA:3380
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Intrauterine growth retardation, Posterior pituitary hypop... ORPHA:75389
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Hyperactivity, Abnormal heart morpholo... ORPHA:485405
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Vaginal atresia, Abnormal heart morphology ORPHA:2237
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Stankiewicz-Isidor Syndrome
Cryptorchidism, Micropenis, Hyperactivity, Shawl scrotum, Ventricular septal defect, Truncus arte... OMIM:617516
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the basal ganglia, Hyposmia, Enc... ORPHA:68
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hypospadias OMIM:616897
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Failure to thrive, Severe short-limb dwarfism, Weight loss ORPHA:1842
Perry Syndrome
Weight loss ORPHA:178509
Follicular Lymphoma
Weight loss ORPHA:545
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Increased circulating androgen conc... ORPHA:90794