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
increased mean platelet volume Ptprstm1b(KOMP)Mbp HET Early adult 8.37×10-05
enlarged heart Ptprstm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ptprstm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal uterus morphology Ptprstm1b(KOMP)Mbp HET Early adult 0.00
abnormal heart morphology Ptprstm1b(KOMP)Mbp HET Early adult 0.00
hydrometra Ptprstm1b(KOMP)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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 N/A heterozygote 75% (3 of 4)
Aorta N/A heterozygote 100% (4 of 4)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote 50% (2 of 4)
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote 50% (2 of 4)
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (2 of 4)
Eye N/A heterozygote 50% (2 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Gonadal fat pad N/A heterozygote 50% (1 of 2)
Harderian gland N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (2 of 4)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 50% (2 of 4)
Hypothalamus N/A heterozygote 50% (2 of 4)
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 50% (2 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 50% (1 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Ovary N/A heterozygote 25% (1 of 4)
Oviduct 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)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 50% (2 of 4)
Prostate gland N/A heterozygote 50% (2 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)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 25% (1 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 25% (1 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 50% (2 of 4)
Tongue N/A heterozygote 50% (2 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 50% (2 of 4)
Vesicular gland N/A heterozygote 50% (1 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

141 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, P... OMIM:612702
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Cachexia ORPHA:2576
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Ethanolaminosis
Cardiomegaly OMIM:227150
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Decreased testicular size, Cryptorchidism, Primary amenorrhea OMIM:614880
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hy... OMIM:146110
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hyp... OMIM:610628
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadism, Reduced response to gonadotropin-releasing horm... OMIM:616030
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadism, Decreased serum testosterone concentration, Dec... OMIM:614897
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hyposmia OMIM:615266
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... OMIM:614858
Isolated Growth Hormone Deficiency, Type Iv
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... OMIM:618157
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Anosmia, Decreased serum testosterone concentration, Hypothalamic gona... OMIM:618841
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Decreased circulating gonadotropin concentration, Decreased s... OMIM:614841
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary ameno... OMIM:614839
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone... OMIM:613038
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... OMIM:612079
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... OMIM:173100
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... ORPHA:453533
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonad... OMIM:147950
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hyposmia, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Absence of pubertal development, Decreased testicular size, Azoospermia, Cryptorchidism,... OMIM:614837
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Anosmia, Delayed puberty OMIM:615270
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gona... OMIM:308700
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia, Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal... OMIM:619755
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... OMIM:221750
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidis... OMIM:308750
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Depressed nasal ridge, Growth delay, Ectopic anterior pituitary glan... ORPHA:90695
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteiniz... OMIM:614842
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short stature, Short nose OMIM:302950
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... ORPHA:398079
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormalit... ORPHA:1135
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development, Anosmia OMIM:615267
Pulmonary Blastoma
Weight loss ORPHA:64741
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... OMIM:169400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Growth delay, Absence of secondary sex characte... ORPHA:2232
Ziegler-Huang Syndrome
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... OMIM:620501
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Hyposmia OMIM:244200
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Anterior pitu... OMIM:182230
Thumb Agenesis, Short Stature, And Immunodeficiency
Short stature, Anosmia, Delayed puberty OMIM:274190
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Decreased testicular size, Hypogonadotropic hypogonadism, Bifid nose, Hyposmia OMIM:614838
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism OMIM:612370
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Body Mass Index Quantitative Trait Locus 19
Anosmia, Increased serum leptin, Obesity, Hyperinsulinemia, Hyposmia OMIM:617885
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesi... ORPHA:54595
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... ORPHA:398069
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia, Miscarriage ORPHA:99928
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Agenesis of... ORPHA:226307
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:98754
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Depressed nasal ridge, Ectopic anterior... ORPHA:95494
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hyposmia OMIM:615996
Kallmann Syndrome
Anosmia, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Decr... ORPHA:478
Septo-Optic Dysplasia Spectrum
Anosmia, Obesity, Cryptorchidism, Agenesis of corpus callosum, Maternal diabetes, Anterior pituit... ORPHA:3157
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:98793
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... ORPHA:91347
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:177904
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:177901
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... ORPHA:231144
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Takenouchi-Kosaki Syndrome
Cryptorchidism, Abnormal cardiac septum morphology, Thrombocytopenia, Hypospadias, Pulmonic steno... OMIM:616737
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Meningioma
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... ORPHA:2495
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Huntington Disease
Abnormal libido, Weight loss, Abnormality of the sense of smell, Decreased body mass index ORPHA:399
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Cryptorchidism, Left ventricular hypertrophy, Thrombocytopenia, Anemia, Hypospadias OMIM:611209
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Johnson Neuroectodermal Syndrome
Severe short stature, Choanal atresia, Anosmia, Failure to thrive, Hypogonadism, Bulbous nose ORPHA:2316
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Cog2-Cdg
Small pituitary gland ORPHA:435934
Idiopathic Achalasia
Weight loss ORPHA:930
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Death in infancy, Hypothyroidism,... ORPHA:95496
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Fg Syndrome Type 1
Small pituitary gland, Choanal atresia, Slender build, Prominent nose, Cryptorchidism, Short stature ORPHA:93932
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Intrauterine growth retardation, Cachexia OMIM:616801
Renpenning Syndrome
Severe short stature, Cachexia, Growth delay ORPHA:3242
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Galactose Epimerase Deficiency
Weight loss, Growth delay ORPHA:79238
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... OMIM:147250
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Syndromic Diarrhea
Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Splenomegaly, Ventricular septal def... ORPHA:84064
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Thrombocytosis, Hepatomegaly, Hypos... OMIM:222470
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Adrenocorticotropin deficient adrenal insufficiency... ORPHA:293978
Wolman Disease
Cachexia, Growth delay ORPHA:75233
Christianson Syndrome
Cachexia ORPHA:85278
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... OMIM:618187
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Bardet-Biedl Syndrome 17
Hypogonadism, Anosmia, Obesity, Hyposmia OMIM:615994
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Acromelic Frontonasal Dysplasia
Bifid nasal tip, Broad nasal tip, Hypopituitarism, Thick nasal alae, Cryptorchidism, Agenesis of ... ORPHA:1827
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morphology, Short nose ORPHA:1295
Aredyld Syndrome
Short stature, Intrauterine growth retardation, Cachexia ORPHA:1133
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Hereditary Central Diabetes Insipidus
Weight loss, Growth delay ORPHA:30925
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Elevated circulating thyroid-stimul... OMIM:613457
Congenital Toxoplasmosis
Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Severe failure to thrive, Cachexia, Intrauterine growth retardation ORPHA:371364
Chronic Hiccup
Weight loss ORPHA:396
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Short stature ORPHA:702
Isaacs Syndrome
Weight loss ORPHA:84142
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Intrauterine growth re... OMIM:619004
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Neonatal death OMIM:618186
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Lateral ventricle dilatation, Decreased response to growth hormone stimulation t... ORPHA:177907
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Thrombocytopenia, Hypospadias... ORPHA:487796
Huntington Disease-Like 2
Weight loss ORPHA:98934
Kleine-Levin Syndrome
Decreased libido, Parosmia ORPHA:33543
Silver-Russell Syndrome
Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine growth retardat... ORPHA:813
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Marcus-Gunn Syndrome
Postnatal growth retardation, Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Depressed nasal bridge, Wide nasal bridge, Disproportionate short-limb sho... OMIM:619479
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus OMIM:619151
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Cachexia, Growth delay, Failure to thrive ORPHA:217346
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia, Short stature OMIM:210745
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Short stature, Anosmia ORPHA:2057
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Second... OMIM:617565
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... ORPHA:251066
Aural Atresia, Congenital
Hyposmia OMIM:607842
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Abnormality of the sense of smell ORPHA:3201
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadi... ORPHA:2326
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Musk, Inability To Smell
Anosmia OMIM:254150
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
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
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Agenesis of ... OMIM:151050
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Isolated Exencephaly
Depressed nasal bridge, Agenesis of corpus callosum, Maternal diabetes, Anterior pituitary hypopl... ORPHA:563612
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ... ORPHA:2177
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Microphthalmia, Syndromic 3
Postnatal growth retardation, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypog... OMIM:206900
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Hydrolethalus
Cryptorchidism, Abnormality of the sense of smell, Agenesis of corpus callosum ORPHA:2189
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Rett Syndrome
Short stature, Cachexia OMIM:312750
Majeed Syndrome
Cachexia, Weight loss, Failure to thrive ORPHA:77297
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg... OMIM:235200
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss, Growth delay OMIM:266600
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Young-Onset Parkinson Disease
Female sexual dysfunction, Male sexual dysfunction, Hyposmia ORPHA:2828
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Hirschsprung Disease
Failure to thrive in infancy, Weight loss, Short stature ORPHA:388
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr... ORPHA:3109
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Male infertility, Chronic rhinitis OMIM:244400
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... OMIM:256550
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Primary Myelofibrosis
Cachexia ORPHA:824
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
X-Linked Intellectual Disability, Cabezas Type
Short stature, Cachexia, Obesity ORPHA:85293
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism OMIM:619718
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
14Q22Q23 Microdeletion Syndrome
Underdeveloped nasal alae, Cryptorchidism, Agenesis of corpus callosum, Adrenal hypoplasia, Anter... ORPHA:264200
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Focal Myositis
Weight loss ORPHA:48918
Pseudo-Torch Syndrome 3
Anemia, Cardiomegaly, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Breast hypoplasia, Intrauterine growth retardation, Narrow nasal tip, Prominen... ORPHA:464306
Moebius Syndrome
Breast aplasia, Hypogonadotropic hypogonadism, Death in infancy, Abnormality of the sense of smell ORPHA:570
Seckel Syndrome
Short stature, Intrauterine growth retardation, Cachexia ORPHA:808
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Failure to thrive OMIM:610965
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Hypogonadism, Cryptorchidism, Absent nares, Single naris ORPHA:2250
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Abnorma... OMIM:400044
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Huntington Disease-Like 2
Weight loss OMIM:606438
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... OMIM:620642
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Holoprosencephaly
Choanal atresia, Depressed nasal ridge, Anosmia, Aplasia/Hypoplasia involving the nose, Failure t... ORPHA:2162
Gorlin Syndrome
Wide nasal bridge, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hypogonadi... ORPHA:377
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology, Thrombocytopenia ORPHA:3320
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Abnormality of the sense of smell ORPHA:958
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Apla... OMIM:603457
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sense of smell, Wide nose ORPHA:284160
Waardenburg Syndrome, Type 4C
Hypogonadism, Anosmia, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Reticular Dysgenesis
Weight loss, Failure to thrive ORPHA:33355
Bardet-Biedl Syndrome
Irregular menstruation, Depressed nasal bridge, Hypogonadism, Decreased testicular size, Obesity,... ORPHA:110
Holoprosencephaly 9
Anterior pituitary agenesis, Choanal atresia, Broad nasal tip, Depressed nasal bridge, Single nar... OMIM:610829
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Central Diabetes Insipidus
Weight loss, Failure to thrive ORPHA:178029
Refsum Disease, Classic
Anosmia OMIM:266500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Leopard Syndrome 1
Depressed nasal ridge, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ... OMIM:151100
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Whipple Disease
Cachexia ORPHA:3452
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Mast Cell Sarcoma
Weight loss ORPHA:66661
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Campomelic Dysplasia
Short stature, Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Depressed nasal bridge, Failure to thrive, Decreased response to growth ho... OMIM:619503
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Prominent nasal bridge, Int... OMIM:619841
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Slender build, Narrow nasal br... ORPHA:466791
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri... ORPHA:79330
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Perry Syndrome
Weight loss ORPHA:178509
Trisomy 18
Short stature, Intrauterine growth retardation, Cachexia, Growth delay ORPHA:3380
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias OMIM:616897
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Follicular Lymphoma
Weight loss ORPHA:545
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Refsum Disease
Anosmia ORPHA:773
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Pleural Mesothelioma
Weight loss ORPHA:50251
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Intrauterine growth retardation, Weight loss, Proportionate short stature ORPHA:3208
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome